########################################### ___ ___ ___ ___ ___ ___ ___ / /\ / /\ / /\ /__/\ / /\ /__/\ / /\ ___ / /::\ / /::\ / /::\ \ \:\ / /::\ \ \:\ / /:/_ / /\ / /:/\:\ / /:/\:\ / /:/\:\ \__\:\ / /:/\:\ \ \:\ / /:/ /\ / /:/ / /:/ \:\ / /:/~/:/ / /:/~/:/ ___ / /::\ / /:/~/::\ _____\__\:\ / /:/ /:/_ / /:/ /__/:/ \__\:\ /__/:/ /:/___ /__/:/ /:/ /__/\ /:/\:\ /__/:/ /:/\:\ /__/::::::::\ /__/:/ /:/ /\ / /::\ \ \:\ / /:/ \ \:\/:::::/ \ \:\/:/ \ \:\/:/__\/ \ \:\/:/__\/ \ \:\~~\~~\/ \ \:\/:/ /:/ /__/:/\:\ \ \:\ /:/ \ \::/~~~~ \ \::/ \ \::/ \ \::/ \ \:\ ~~~ \ \::/ /:/ \__\/ \:\ \ \:\/:/ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\/:/ \ \:\ \ \::/ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\ \ \::/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ ___ ___ ___ ___ / /\ / /\ / /\ / /\ / /::\ / /::\ / /::\ / /:/_ / /:/\:\ / /:/\:\ / /:/\:\ / /:/ /\ / /:/~/:/ / /:/~/::\ / /:/~/:/ / /:/ /:/_ /__/:/ /:/___ /__/:/ /:/\:\ /__/:/ /:/___ /__/:/ /:/ /\ \ \:\/:::::/ \ \:\/:/__\/ \ \:\/:::::/ \ \:\/:/ /:/ \ \::/~~~~ \ \::/ \ \::/~~~~ \ \::/ /:/ \ \:\ \ \:\ \ \:\ \ \:\/:/ \ \:\ \ \:\ \ \:\ \ \::/ \__\/ \__\/ \__\/ \__\/ _____ ___ ___ ___ ___ ___ / /::\ ___ / /\ / /\ / /\ / /\ / /\ / /:/\:\ / /\ / /:/_ / /:/_ / /::\ / /:/_ / /:/_ / /:/ \:\ / /:/ / /:/ /\ / /:/ /\ / /:/\:\ / /:/ /\ / /:/ /\ /__/:/ \__\:| /__/::\ / /:/ /::\ / /:/ /:/_ / /:/~/::\ / /:/ /::\ / /:/ /:/_ \ \:\ / /:/ \__\/\:\__ /__/:/ /:/\:\ /__/:/ /:/ /\ /__/:/ /:/\:\ /__/:/ /:/\:\ /__/:/ /:/ /\ \ \:\ /:/ \ \:\/\ \ \:\/:/~/:/ \ \:\/:/ /:/ \ \:\/:/__\/ \ \:\/:/~/:/ \ \:\/:/ /:/ \ \:\/:/ \__\::/ \ \::/ /:/ \ \::/ /:/ \ \::/ \ \::/ /:/ \ \::/ /:/ \ \::/ /__/:/ \__\/ /:/ \ \:\/:/ \ \:\ \__\/ /:/ \ \:\/:/ \__\/ \__\/ /__/:/ \ \::/ \ \:\ /__/:/ \ \::/ \__\/ \__\/ \__\/ \__\/ \__\/ ___ ___ ___ ___ ___ / /\ /__/\ ___ / /\ / /\ / /\ ___ / /::\ \ \:\ / /\ / /::\ / /::\ / /:/_ /__/| / /:/\:\ \ \:\ / /:/ / /:/\:\ ___ ___ / /:/\:\ / /:/ /\ | |:| / /:/ \:\ _____\__\:\ / /:/ / /:/ \:\ /__/\ / /\ / /:/ \:\ / /:/_/::\ | |:| /__/:/ \__\:\ /__/::::::::\ / /::\ /__/:/ \__\:\ \ \:\ / /:/ /__/:/ \__\:\ /__/:/__\/\:\ __|__|:| \ \:\ / /:/ \ \:\~~\~~\/ /__/:/\:\ \ \:\ / /:/ \ \:\ /:/ \ \:\ / /:/ \ \:\ /~~/:/ /__/::::\ \ \:\ /:/ \ \:\ ~~~ \__\/ \:\ \ \:\ /:/ \ \:\/:/ \ \:\ /:/ \ \:\ /:/ ~\~~\:\ \ \:\/:/ \ \:\ \ \:\ \ \:\/:/ \ \::/ \ \:\/:/ \ \:\/:/ \ \:\ \ \::/ \ \:\ \__\/ \ \::/ \__\/ \ \::/ \ \::/ \__\/ ########################################### ORPHANET RARE DISEASE ONTOLOGY Release notes : Version: 2.0 Date : 12th Jan 2015 The ORDO version 2.0 represents a major release of the ontology. It comes with addition of several new classes and relationships. We have added more Epidemiology data such as - Annual Incidence, Case/Family, prevalence at birth and lifetime prevalence. We also have added gain/loss of function of gene along with chromosomal location for the gene. The genetic material has now sub-types. The geographical location has also been added. In addition to this the annotation for the database cross-references mapping types have also been added i.e. if its a Narrow term mapped to Broader term etc. More modes of inheritance has also been included. 1. No. of classes modified: 11871 2. No. of classes that have been added: 233 3. No. of classes that have been deleted: 66 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_123198 Label: MER proto-oncogene, tyrosine kinase - 'MER proto-oncogene, tyrosine kinase' SubClassOf 'gene' - 'MER proto-oncogene, tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'MER proto-oncogene, tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'MER proto-oncogene, tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MER proto-oncogene, tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123196 Label: multiple endocrine neoplasia I - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zollinger-Ellison syndrome' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' - 'multiple endocrine neoplasia I' SubClassOf 'gene' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' + 'multiple endocrine neoplasia I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zollinger-Ellison syndrome' + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' + 'multiple endocrine neoplasia I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_121053 Label: desmin - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desminopathy' - 'desmin' SubClassOf 'gene' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1E' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' + 'desmin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desminopathy' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' + 'desmin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1E' Class: http://www.orpha.net/ORDO/Orphanet_121059 Label: deoxyguanosine kinase - 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' - 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' - 'deoxyguanosine kinase' SubClassOf 'gene' + 'deoxyguanosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' + 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' + 'deoxyguanosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254424 Label: Annular lichen planus - 'Annular lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Annular lichen planus' SubClassOf 'disease' - 'Annular lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Annular lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Annular lichen planus' SubClassOf 'disease' + 'Annular lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Annular lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_121056 Label: deafness, autosomal dominant 5 - 'deafness, autosomal dominant 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'deafness, autosomal dominant 5' SubClassOf 'gene' + 'deafness, autosomal dominant 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'deafness, autosomal dominant 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'deafness, autosomal dominant 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_324761 Label: Microcephalic primordial dwarfism - 'Microcephalic primordial dwarfism' SubClassOf 'group of disorders' + 'Microcephalic primordial dwarfism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324764 Label: Trichorhinophalangeal syndrome - 'Trichorhinophalangeal syndrome' SubClassOf 'group of disorders' + 'Trichorhinophalangeal syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325537 Label: 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors - '46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors' SubClassOf 'group of disorders' + '46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123191 Label: Mediterranean fever - 'Mediterranean fever' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial Mediterranean fever' - 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' - 'Mediterranean fever' SubClassOf 'gene' - 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'Mediterranean fever' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial Mediterranean fever' + 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' + 'Mediterranean fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'Mediterranean fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_324767 Label: Non-familial rare disease with dilated cardiomyopathy - 'Non-familial rare disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial rare disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168960 Label: Refractory anemia with excess blasts in transformation - 'Refractory anemia with excess blasts in transformation' SubClassOf 'disease' - 'Refractory anemia with excess blasts in transformation' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Refractory anemia with excess blasts in transformation' SubClassOf 'disease' + 'Refractory anemia with excess blasts in transformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_121062 Label: 24-dehydrocholesterol reductase - '24-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmosterolosis' - '24-dehydrocholesterol reductase' SubClassOf 'gene' + '24-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '24-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmosterolosis' + '24-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121066 Label: 7-dehydrocholesterol reductase - '7-dehydrocholesterol reductase' SubClassOf 'gene' - '7-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Lemli-Opitz syndrome' + '7-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string + '7-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Lemli-Opitz syndrome' + '7-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_168966 Label: Composite lymphoma - 'Composite lymphoma' SubClassOf 'disease' - 'Composite lymphoma' SubClassOf 'part_of' some 'Lymphoma' + 'Composite lymphoma' SubClassOf 'disease' + 'Composite lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_121069 Label: desert hedgehog - 'desert hedgehog' SubClassOf 'gene' - 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY gonadal dysgenesis - motor and sensory neuropathy' - 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'desert hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desert hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY gonadal dysgenesis - motor and sensory neuropathy' + 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_156532 Label: Rare syndrome with cardiac malformations - 'Rare syndrome with cardiac malformations' SubClassOf 'group of disorders' + 'Rare syndrome with cardiac malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254411 Label: Annular atrophic lichen planus - 'Annular atrophic lichen planus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Annular atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Annular atrophic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Annular atrophic lichen planus' SubClassOf 'disease' + 'Annular atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Annular atrophic lichen planus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Annular atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Annular atrophic lichen planus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_325546 Label: Sex chromosome disorder of sex development - 'Sex chromosome disorder of sex development' SubClassOf 'group of disorders' + 'Sex chromosome disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221339 Label: lamin B2 - 'lamin B2' SubClassOf 'gene' - 'lamin B2' SubClassOf 'Major susceptibility factor in' some 'Partial acquired lipodystrophy' + 'lamin B2' SubClassOf 'Major susceptibility factor in' some 'Partial acquired lipodystrophy' + 'lamin B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_404584 Label: Rare genetic bone development disorder - 'Rare genetic bone development disorder' SubClassOf 'group of disorders' + 'Rare genetic bone development disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121073 Label: diaphanous-related formin 1 - 'diaphanous-related formin 1' SubClassOf 'gene' - 'diaphanous-related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diaphanous-related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269646 Label: family with sequence similarity 20, member A - 'family with sequence similarity 20, member A' SubClassOf 'gene' - 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta - nephrocalcinosis' - 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta and gingival hyperplasia syndrome' + 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta - nephrocalcinosis' + 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta and gingival hyperplasia syndrome' + 'family with sequence similarity 20, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 20, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_240651 Label: G-protein signaling modulator 2 - 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-McCullough syndrome' - 'G-protein signaling modulator 2' SubClassOf 'gene' + 'G-protein signaling modulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'G-protein signaling modulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-McCullough syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168999 Label: Malignant melanoma of the mucosa - 'Malignant melanoma of the mucosa' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malignant melanoma of the mucosa' SubClassOf 'disease' - 'Malignant melanoma of the mucosa' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Malignant melanoma of the mucosa' SubClassOf 'disease' + 'Malignant melanoma of the mucosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_77828 Label: Genetic obesity - 'Genetic obesity' SubClassOf 'group of disorders' + 'Genetic obesity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221348 Label: small nuclear ribonucleoprotein 200kDa (U5) - 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'gene' - 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221346 Label: neuroblastoma RAS viral (v-ras) oncogene homolog - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Large congenital melanocytic nevus' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'gene' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Large congenital melanocytic nevus' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_77830 Label: Rare genetic odontologic disease - 'Rare genetic odontologic disease' SubClassOf 'group of disorders' + 'Rare genetic odontologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221342 Label: transmembrane protein 216 - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'transmembrane protein 216' SubClassOf 'gene' - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'transmembrane protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'transmembrane protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_404580 Label: Juvenile polyarthritis - 'Juvenile polyarthritis' SubClassOf 'group of disorders' + 'Juvenile polyarthritis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325511 Label: 46,XY disorder of sex development due to cholesterol synthesis defect - '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404574 Label: Genetic syndrome with limb reduction defects - 'Genetic syndrome with limb reduction defects' SubClassOf 'group of disorders' + 'Genetic syndrome with limb reduction defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121086 Label: disrupted in renal carcinoma 2 - 'disrupted in renal carcinoma 2' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'disrupted in renal carcinoma 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404577 Label: Genetic syndrome with limb malformations as a major feature - 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' - 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Congenital limb malformation' + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Genetic congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_121084 Label: disrupted in renal carcinoma 1 - 'disrupted in renal carcinoma 1' SubClassOf 'gene' - 'disrupted in renal carcinoma 1' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_168984 Label: CLAPO syndrome - 'CLAPO syndrome' SubClassOf 'part_of' some 'Lymphatic malformation' - 'CLAPO syndrome' SubClassOf 'malformation syndrome' - 'CLAPO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLAPO syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CLAPO syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'CLAPO syndrome' SubClassOf 'malformation syndrome' + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'CLAPO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphatic malformation' + 'CLAPO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_240663 Label: Kruppel-like factor 1 (erythroid) - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'gene' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type IV' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type IV' + 'Kruppel-like factor 1 (erythroid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Kruppel-like factor 1 (erythroid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' Class: http://www.orpha.net/ORDO/Orphanet_306122 Label: phosphoinositide-3-kinase, regulatory subunit 2 (beta) - 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'gene' - 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_240658 Label: tyrosyl-tRNA synthetase 2, mitochondrial - 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_325524 Label: Classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' - 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_238998 Label: phosphodiesterase 6G, cGMP-specific, rod, gamma - 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'gene' - 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221356 Label: lipoxygenase homology domains 1 - 'lipoxygenase homology domains 1' SubClassOf 'gene' - 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'lipoxygenase homology domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'lipoxygenase homology domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_325529 Label: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_238991 Label: histone deacetylase 4 - 'histone deacetylase 4' SubClassOf 'gene' - 'histone deacetylase 4' SubClassOf 'Role in the phenotype of' some '2q37 microdeletion syndrome' + 'histone deacetylase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histone deacetylase 4' SubClassOf 'Role in the phenotype of' some '2q37 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404571 Label: Dysostosis of genetic origin with limb anomaly as a major feature - 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_360173 Label: myosin, heavy chain 7B, cardiac muscle, beta - 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' - 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'gene' + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121012 Label: deleted in azoospermia 1 - 'deleted in azoospermia 1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 1' SubClassOf 'gene' + 'deleted in azoospermia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.223"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_1486 Label: Lethal congenital contracture syndrome type 1 - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Lethal congenital contracture syndrome' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'malformation syndrome' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Thoracic malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf 'malformation syndrome' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_123158 Label: matrilin 3 - 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 5' - 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' - 'matrilin 3' SubClassOf 'gene' + 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 5' + 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' + 'matrilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24-p23"^^http://www.w3.org/2001/XMLSchema#string + 'matrilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1487 Label: Cooks syndrome - 'Cooks syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cooks syndrome' SubClassOf 'malformation syndrome' - 'Cooks syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cooks syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cooks syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Cooks syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cooks syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Cooks syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Cooks syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cooks syndrome' SubClassOf 'malformation syndrome' + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Cooks syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cooks syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121018 Label: deleted in azoospermia 3 - 'deleted in azoospermia 3' SubClassOf 'gene' - 'deleted in azoospermia 3' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'deleted in azoospermia 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.223"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 3' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_1488 Label: Cooper-Jabs syndrome - 'Cooper-Jabs syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cooper-Jabs syndrome' SubClassOf 'malformation syndrome' - 'Cooper-Jabs syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cooper-Jabs syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf 'malformation syndrome' + 'Cooper-Jabs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cooper-Jabs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_252202 Label: Constitutional mismatch repair deficiency syndrome - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'disease' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'disease' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1489 Label: Whooping cough - 'Whooping cough' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Whooping cough' SubClassOf 'disease' + 'Whooping cough' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Whooping cough' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121016 Label: deleted in azoospermia 2 - 'deleted in azoospermia 2' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 2' SubClassOf 'gene' + 'deleted in azoospermia 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 2' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_240672 Label: apolipoprotein L, 1 - 'apolipoprotein L, 1' SubClassOf 'gene' - 'apolipoprotein L, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'apolipoprotein L, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein L, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apolipoprotein L, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_404568 Label: Dysostosis of genetic origin - 'Dysostosis of genetic origin' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1482 Label: Gonococcal conjunctivitis - 'Gonococcal conjunctivitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' - 'Gonococcal conjunctivitis' SubClassOf 'disease' + 'Gonococcal conjunctivitis' SubClassOf 'disease' + 'Gonococcal conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' Class: http://www.orpha.net/ORDO/Orphanet_123154 Label: microtubule associated serine/threonine kinase-like - 'microtubule associated serine/threonine kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' - 'microtubule associated serine/threonine kinase-like' SubClassOf 'gene' + 'microtubule associated serine/threonine kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'microtubule associated serine/threonine kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microtubule associated serine/threonine kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_1484 Label: Contractures - ectodermal dysplasia - cleft lip/palate - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'malformation syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1485 Label: Arthrogryposis - hyperkeratosis, lethal form - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_254463 Label: Lichen planus pigmentosus - 'Lichen planus pigmentosus' SubClassOf 'disease' - 'Lichen planus pigmentosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lichen planus pigmentosus' SubClassOf 'has_prevalence' some 'Unknown' - 'Lichen planus pigmentosus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Lichen planus pigmentosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Lichen planus pigmentosus' SubClassOf 'disease' + 'Lichen planus pigmentosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1480 Label: Ventricular septal defect - 'Ventricular septal defect' SubClassOf 'has_prevalence' some '1 / 1000' - 'Ventricular septal defect' SubClassOf 'group of disorders' - 'Ventricular septal defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "418.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'group of disorders' + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "272.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "444.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_404560 Label: Familial atypical multiple mole melanoma syndrome - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'disease' - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'disease' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_353921 Label: chloride channel accessory 4 - 'chloride channel accessory 4' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' - 'chloride channel accessory 4' SubClassOf 'gene' + 'chloride channel accessory 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel accessory 4' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' + 'chloride channel accessory 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182058 Label: Primary orthostatic hypotension - 'Primary orthostatic hypotension' SubClassOf 'group of disorders' + 'Primary orthostatic hypotension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182054 Label: Rare thrombotic disease of hematologic origin - 'Rare thrombotic disease of hematologic origin' SubClassOf 'group of disorders' + 'Rare thrombotic disease of hematologic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280062 Label: Calciphylaxis - 'Calciphylaxis' SubClassOf 'group of disorders' + 'Calciphylaxis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Calciphylaxis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Calciphylaxis' SubClassOf 'group of disorders' + 'Calciphylaxis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_182050 Label: MYH9-related disease - 'MYH9-related disease' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'MYH9-related disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MYH9-related disease' SubClassOf 'disease' - 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'MYH9-related disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'MYH9-related disease' SubClassOf 'part_of' some 'Primary glomerular disease' + 'MYH9-related disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'MYH9-related disease' SubClassOf 'disease' + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'MYH9-related disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MYH9-related disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_280065 Label: Calciphylaxis cutis - 'Calciphylaxis cutis' SubClassOf 'part_of' some 'Calciphylaxis' - 'Calciphylaxis cutis' SubClassOf 'disease' - 'Calciphylaxis cutis' SubClassOf 'part_of' some 'Skin vascular disease' + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Calciphylaxis' + 'Calciphylaxis cutis' SubClassOf 'disease' + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_401370 Label: cyclin D2 - 'cyclin D2' SubClassOf 'gene' - 'cyclin D2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_280068 Label: Visceral calciphylaxis - 'Visceral calciphylaxis' SubClassOf 'part_of' some 'Calciphylaxis' - 'Visceral calciphylaxis' SubClassOf 'disease' + 'Visceral calciphylaxis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Calciphylaxis' + 'Visceral calciphylaxis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_240669 Label: centrosomal protein 152kDa - 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'centrosomal protein 152kDa' SubClassOf 'gene' - 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 152kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 152kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269639 Label: alanyl-tRNA synthetase 2, mitochondrial - 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 8' + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 8' Class: http://www.orpha.net/ORDO/Orphanet_240686 Label: chromobox homolog 2 - 'chromobox homolog 2' SubClassOf 'gene' - 'chromobox homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'chromobox homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromobox homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'chromobox homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121025 Label: dihydrolipoamide branched chain transacylase E2 - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'gene' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermittent maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermediate maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thiamine-responsive maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306182 Label: dystonia 2, torsion (autosomal recessive) - 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT2 type' - 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'gene' + 'dystonia 2, torsion (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT2 type' + 'dystonia 2, torsion (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "reserved"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121027 Label: DNA cross-link repair 1C - 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DCLRE1C deficiency' - 'DNA cross-link repair 1C' SubClassOf 'gene' + 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DCLRE1C deficiency' + 'DNA cross-link repair 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'DNA cross-link repair 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_306184 Label: dystonia 17 - 'dystonia 17' SubClassOf 'gene' - 'dystonia 17' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT17 type' + 'dystonia 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.22-q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 17' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT17 type' Class: http://www.orpha.net/ORDO/Orphanet_1497 Label: X-linked complicated corpus callosum dysgenesis - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'part_of' some 'L1 syndrome' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1495 Label: Intellectual disability - hypoplastic corpus callosum - preauricular tag - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'malformation syndrome' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'malformation syndrome' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_123167 Label: methylcrotonoyl-CoA carboxylase 2 (beta) - 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'gene' - 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1496 Label: Corpus callosum agenesis - neuronopathy - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'disease' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corpus callosum agenesis - neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "47.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1493 Label: Vici syndrome - 'Vici syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vici syndrome' SubClassOf 'malformation syndrome' - 'Vici syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Vici syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Vici syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Vici syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Vici syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Vici syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Vici syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Vici syndrome' SubClassOf 'malformation syndrome' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Vici syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123164 Label: methylcrotonoyl-CoA carboxylase 1 (alpha) - 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'gene' - 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121020 Label: deleted in azoospermia 4 - 'deleted in azoospermia 4' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 4' SubClassOf 'gene' + 'deleted in azoospermia 4' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'deleted in azoospermia 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1492 Label: Corpus callosum agenesis - double urinary collecting system - 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'malformation syndrome' - 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'malformation syndrome' + 'Corpus callosum agenesis - double urinary collecting system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label: Vasculitis due to ADA2 deficiency - 'Vasculitis due to ADA2 deficiency' SubClassOf 'disease' - 'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123161 Label: melanocortin 2 receptor (adrenocorticotropic hormone) - 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'gene' - 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121022 Label: dopamine beta-hydroxylase (dopamine beta-monooxygenase) - 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'gene' - 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopamine beta-hydroxylase deficiency' + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopamine beta-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1490 Label: Corneal dystrophy - perceptive deafness - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'malformation syndrome' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corneal dystrophy - perceptive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Corneal dystrophy - perceptive deafness' SubClassOf 'malformation syndrome' + 'Corneal dystrophy - perceptive deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal dystrophy - perceptive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_182047 Label: Rare acquired hemolytic anemia - 'Rare acquired hemolytic anemia' SubClassOf 'group of disorders' + 'Rare acquired hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238973 Label: interleukin 12 receptor, beta 2 - 'interleukin 12 receptor, beta 2' SubClassOf 'gene' - 'interleukin 12 receptor, beta 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 12 receptor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3-p31.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 12 receptor, beta 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 12 receptor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_182043 Label: Rare constitutional hemolytic anemia - 'Rare constitutional hemolytic anemia' SubClassOf 'group of disorders' + 'Rare constitutional hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182040 Label: Medullar aplasia - 'Medullar aplasia' SubClassOf 'group of disorders' + 'Medullar aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306189 Label: E74-like factor 4 (ets domain transcription factor) - 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'Candidate gene tested in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' - 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'gene' + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'Candidate gene tested in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_360196 Label: formin binding protein 4 - 'formin binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' - 'formin binding protein 4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_35701 Label: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'part_of' some 'Disorder of ketone body metabolism' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ketone body metabolism' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1464 Label: Univentricular heart - 'Univentricular heart' SubClassOf 'part_of' some 'Univentricular cardiopathy' - 'Univentricular heart' SubClassOf 'morphological anomaly' + 'Univentricular heart' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Univentricular heart' SubClassOf 'morphological anomaly' + 'Univentricular heart' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Univentricular cardiopathy' Class: http://www.orpha.net/ORDO/Orphanet_306172 Label: tubulin, beta 4A class IVa - 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT4 type' - 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum' - 'tubulin, beta 4A class IVa' SubClassOf 'gene' + 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT4 type' + 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum' + 'tubulin, beta 4A class IVa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, beta 4A class IVa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1465 Label: Coffin-Siris syndrome - 'Coffin-Siris syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Coffin-Siris syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Coffin-Siris syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Coffin-Siris syndrome' SubClassOf 'malformation syndrome' + 'Coffin-Siris syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coffin-Siris syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coffin-Siris syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Coffin-Siris syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1466 Label: COFS syndrome - 'COFS syndrome' SubClassOf 'part_of' some 'Cockayne syndrome' - 'COFS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COFS syndrome' SubClassOf 'clinical subtype' - 'COFS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COFS syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'COFS syndrome' SubClassOf 'clinical subtype' + 'COFS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COFS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cockayne syndrome' + 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_1467 Label: Cogan syndrome - 'Cogan syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cogan syndrome' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Cogan syndrome' SubClassOf 'disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Cogan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cogan syndrome' SubClassOf 'disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_121038 Label: doublecortin - 'doublecortin' SubClassOf 'gene' - 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Subcortical band heterotopia' - 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly type 1 due to doublecortin gene mutation' + 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Subcortical band heterotopia' + 'doublecortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3-q23"^^http://www.w3.org/2001/XMLSchema#string + 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly type 1 due to doublecortin gene mutation' + 'doublecortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121034 Label: decorin - 'decorin' SubClassOf 'gene' - 'decorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stromal corneal dystrophy' + 'decorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'decorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'decorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_254449 Label: Atrophic lichen planus - 'Atrophic lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atrophic lichen planus' SubClassOf 'disease' - 'Atrophic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Atrophic lichen planus' SubClassOf 'disease' + 'Atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404546 Label: DITRA - 'DITRA' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'DITRA' SubClassOf 'disease' - 'DITRA' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'DITRA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'DITRA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DITRA' SubClassOf 'disease' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165661 Label: Genetic pancreatic disease - 'Genetic pancreatic disease' SubClassOf 'group of disorders' + 'Genetic pancreatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1460 Label: Isolated CoQ-cytochrome C reductase deficiency - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1461 Label: Criss-cross heart - 'Criss-cross heart' SubClassOf 'has_prevalence' some 'Unknown' - 'Criss-cross heart' SubClassOf 'part_of' some 'Congenital heart malformation' - 'Criss-cross heart' SubClassOf 'morphological anomaly' - 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Criss-cross heart' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Criss-cross heart' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Criss-cross heart' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital heart malformation' + 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Criss-cross heart' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123175 Label: mucolipin 1 - 'mucolipin 1' SubClassOf 'gene' - 'mucolipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 4' + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 4' Class: http://www.orpha.net/ORDO/Orphanet_240691 Label: Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Situs inversus totalis' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, sinus venosus type' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'gene' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Situs inversus totalis' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, sinus venosus type' Class: http://www.orpha.net/ORDO/Orphanet_1463 Label: Triatrial heart - 'Triatrial heart' SubClassOf 'group of disorders' + 'Triatrial heart' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165658 Label: Genetic gastro-esophageal disease - 'Genetic gastro-esophageal disease' SubClassOf 'group of disorders' + 'Genetic gastro-esophageal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123170 Label: multiple coagulation factor deficiency 2 - 'multiple coagulation factor deficiency 2' SubClassOf 'gene' - 'multiple coagulation factor deficiency 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'multiple coagulation factor deficiency 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'multiple coagulation factor deficiency 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple coagulation factor deficiency 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' Class: http://www.orpha.net/ORDO/Orphanet_404538 Label: X-linked distal hereditary motor neuropathy - 'X-linked distal hereditary motor neuropathy' SubClassOf 'group of disorders' + 'X-linked distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1478 Label: Interauricular communication - 'Interauricular communication' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Interauricular communication' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Interauricular communication' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Interauricular communication' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Interauricular communication' SubClassOf 'morphological anomaly' + 'Interauricular communication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Interauricular communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Interauricular communication' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Interauricular communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Interauricular communication' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1475 Label: Renal coloboma syndrome - 'Renal coloboma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal coloboma syndrome' SubClassOf 'malformation syndrome' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Renal coloboma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Renal coloboma syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Renal coloboma syndrome' SubClassOf 'malformation syndrome' + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal coloboma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Renal coloboma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_121045 Label: damage-specific DNA binding protein 2, 48kDa - 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group E' - 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'gene' + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group E' + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p12-p11"^^http://www.w3.org/2001/XMLSchema#string + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1479 Label: Atrial septal defect - atrioventricular conduction defects - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'malformation syndrome' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'malformation syndrome' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121047 Label: dopa decarboxylase (aromatic L-amino acid decarboxylase) - 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatic L-amino acid decarboxylase deficiency' - 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'gene' + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatic L-amino acid decarboxylase deficiency' + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123183 Label: microcephalin 1 - 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature chromosome condensation with microcephaly and intellectual disability' - 'microcephalin 1' SubClassOf 'gene' - 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Premature chromosome condensation with microcephaly and intellectual disability' + 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_165655 Label: Genetic intestinal disease - 'Genetic intestinal disease' SubClassOf 'group of disorders' + 'Genetic intestinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165652 Label: Rare genetic gastroenterological disease - 'Rare genetic gastroenterological disease' SubClassOf 'group of disorders' + 'Rare genetic gastroenterological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1473 Label: Uveal coloboma - cleft lip and palate - intellectual disability - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'malformation syndrome' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'malformation syndrome' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97685 Label: 17q11 microdeletion syndrome - '17q11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q11 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '17q11 microdeletion syndrome' SubClassOf 'clinical subtype' - '17q11 microdeletion syndrome' SubClassOf 'part_of' some 'Neurofibromatosis type 1' + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurofibromatosis type 1' + '17q11 microdeletion syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1471 Label: Coloboma of macula - brachydactyly type B - 'Coloboma of macula - brachydactyly type B' SubClassOf 'malformation syndrome' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula - brachydactyly type B' SubClassOf 'malformation syndrome' + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Coloboma of macula - brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula - brachydactyly type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_123186 Label: methyl CpG binding protein 2 - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' - 'methyl CpG binding protein 2' SubClassOf 'gene' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rett syndrome' - 'methyl CpG binding protein 2' SubClassOf 'Role in the phenotype of' some 'Trisomy Xq28' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - psychosis - macroorchidism' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal-onset encephalopathy with microcephaly' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rett syndrome' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - psychosis - macroorchidism' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'methyl CpG binding protein 2' SubClassOf 'Role in the phenotype of' some 'Trisomy Xq28' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal-onset encephalopathy with microcephaly' + 'methyl CpG binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'methyl CpG binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97678 Label: Maternal uniparental disomy of chromosome 13 - 'Maternal uniparental disomy of chromosome 13' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306169 Label: dystonia 15, myoclonic - 'dystonia 15, myoclonic' SubClassOf 'gene' - 'dystonia 15, myoclonic' SubClassOf 'Role in the phenotype of' some 'Myoclonus-dystonia syndrome' + 'dystonia 15, myoclonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 15, myoclonic' SubClassOf 'Role in the phenotype of' some 'Myoclonus-dystonia syndrome' + 'dystonia 15, myoclonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182090 Label: Pulmonary arterial hypertension - 'Pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.24"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_228012 Label: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'disease' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1439 Label: Ring chromosome 12 - 'Ring chromosome 12' SubClassOf 'malformation syndrome' - 'Ring chromosome 12' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 12' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183542 Label: Genetic cranial malformation - 'Genetic cranial malformation' SubClassOf 'group of disorders' + 'Genetic cranial malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217253 Label: Limbic encephalitis with NMDA receptor antibodies - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'disease' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_inheritance' some 'sporadic' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'part_of' some 'Paraneoplastic limbic encephalitis' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_prevalence' some 'Unknown' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'disease' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_182098 Label: Pneumoconiosis - 'Pneumoconiosis' SubClassOf 'group of disorders' + 'Pneumoconiosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182095 Label: Interstitial lung disease - 'Interstitial lung disease' SubClassOf 'group of disorders' + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf 'group of disorders' + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1441 Label: Ring chromosome 17 - 'Ring chromosome 17' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 17' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 17' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 17' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 17' SubClassOf 'malformation syndrome' + 'Ring chromosome 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 17' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 17' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2052 Label: Fraser syndrome - 'Fraser syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Fraser syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Fraser syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fraser syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fraser syndrome' SubClassOf 'malformation syndrome' - 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Fraser syndrome' SubClassOf 'part_of' some 'Cryptophthalmia' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf 'malformation syndrome' + 'Fraser syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryptophthalmia' + 'Fraser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1440 Label: Ring chromosome 14 - 'Ring chromosome 14' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 14' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 14' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 14' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Ring chromosome 14' SubClassOf 'malformation syndrome' - 'Ring chromosome 14' SubClassOf 'has_inheritance' some 'sporadic' + 'Ring chromosome 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 14' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 14' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 14' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183539 Label: Genetic renal or urinary tract malformation - 'Genetic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Genetic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2053 Label: Freeman-Sheldon syndrome - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Freeman-Sheldon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Freeman-Sheldon syndrome' SubClassOf 'malformation syndrome' - 'Freeman-Sheldon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Freeman-Sheldon syndrome' SubClassOf 'malformation syndrome' + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Freeman-Sheldon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Freeman-Sheldon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_2050 Label: Cole-Carpenter syndrome - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Cole-Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cole-Carpenter syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cole-Carpenter syndrome' SubClassOf 'malformation syndrome' - 'Cole-Carpenter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cole-Carpenter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cole-Carpenter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Cole-Carpenter syndrome' SubClassOf 'malformation syndrome' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cole-Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_159443 Label: topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase - 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_139042 Label: Malformation syndrome with odontal and/or periodontal component - 'Malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' + 'Malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183536 Label: Genetic congenital limb malformation - 'Genetic congenital limb malformation' SubClassOf 'obsolete_class' - 'Genetic congenital limb malformation' SubClassOf 'group of disorders' + 'Genetic congenital limb malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2056 Label: Essential fructosuria - 'Essential fructosuria' SubClassOf 'part_of' some 'Disorder of fructose metabolism' - 'Essential fructosuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Essential fructosuria' SubClassOf 'disease' - 'Essential fructosuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Essential fructosuria' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Essential fructosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fructose metabolism' + 'Essential fructosuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Essential fructosuria' SubClassOf 'disease' + 'Essential fructosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2057 Label: Blepharophimosis - ptosis - esotropia - syndactyly - short stature - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'malformation syndrome' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Ptosis' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'malformation syndrome' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2054 Label: Osteochondritis of tarsal/metatarsal bone - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'disease' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_inheritance' some 'sporadic' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some 'Osteochondrosis' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'disease' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_183533 Label: Genetic multiple congenital anomalies/dysmorphic syndrome - 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' + 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1449 Label: Ring chromosome 7 - 'Ring chromosome 7' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 7' SubClassOf 'malformation syndrome' + 'Ring chromosome 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 7' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397787 Label: Severe combined immunodeficiency due to IKK2 deficiency - 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' - 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T+ B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1448 Label: Ring chromosome 6 - 'Ring chromosome 6' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 6' SubClassOf 'malformation syndrome' + 'Ring chromosome 6' SubClassOf 'malformation syndrome' + 'Ring chromosome 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_159449 Label: RNA binding motif protein 28 - 'RNA binding motif protein 28' SubClassOf 'Disease-causing germline mutation(s) in' some 'ANE syndrome' - 'RNA binding motif protein 28' SubClassOf 'gene' + 'RNA binding motif protein 28' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 28' SubClassOf 'Disease-causing germline mutation(s) in' some 'ANE syndrome' + 'RNA binding motif protein 28' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1447 Label: Ring chromosome 4 - 'Ring chromosome 4' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 4' SubClassOf 'malformation syndrome' + 'Ring chromosome 4' SubClassOf 'malformation syndrome' + 'Ring chromosome 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_122102 Label: gap junction protein, alpha 1, 43kDa - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 3' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniometaphyseal dysplasia' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculodentodigital dysplasia' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'gene' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 3' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniometaphyseal dysplasia' + 'gap junction protein, alpha 1, 43kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculodentodigital dysplasia' + 'gap junction protein, alpha 1, 43kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1446 Label: Ring chromosome 22 - 'Ring chromosome 22' SubClassOf 'malformation syndrome' - 'Ring chromosome 22' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 22' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2059 Label: Fryns syndrome - 'Fryns syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fryns syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fryns syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fryns syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Fryns syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Fryns syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Fryns syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fryns syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fryns syndrome' SubClassOf 'malformation syndrome' + 'Fryns syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fryns syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fryns syndrome' SubClassOf 'malformation syndrome' + 'Fryns syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1445 Label: Ring chromosome 21 - 'Ring chromosome 21' SubClassOf 'malformation syndrome' - 'Ring chromosome 21' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 21' SubClassOf 'malformation syndrome' + 'Ring chromosome 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_1444 Label: Ring chromosome 20 - 'Ring chromosome 20' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 20' SubClassOf 'malformation syndrome' - 'Ring chromosome 20' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 20' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 20' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 20' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 20' SubClassOf 'malformation syndrome' + 'Ring chromosome 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 20' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1443 Label: Ring chromosome 19 - 'Ring chromosome 19' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 19' SubClassOf 'malformation syndrome' + 'Ring chromosome 19' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 19' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1442 Label: Ring chromosome 18 - 'Ring chromosome 18' SubClassOf 'malformation syndrome' - 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring chromosome 18' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 18' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 18' SubClassOf 'malformation syndrome' + 'Ring chromosome 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ring chromosome 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_182083 Label: Channelopathy with epilepsy - 'Channelopathy with epilepsy' SubClassOf 'group of disorders' + 'Channelopathy with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280099 Label: tubulin, beta 1 class VI - 'tubulin, beta 1 class VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' - 'tubulin, beta 1 class VI' SubClassOf 'gene' + 'tubulin, beta 1 class VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, beta 1 class VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' + 'tubulin, beta 1 class VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139033 Label: Progeroid syndrome - 'Progeroid syndrome' SubClassOf 'group of disorders' + 'Progeroid syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183530 Label: Rare genetic developmental defect during embryogenesis - 'Rare genetic developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare genetic developmental defect during embryogenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370997 Label: Muscle-eye-brain disease with bilateral multicystic leucodystrophy - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'part_of' some 'Primary qualitative or quantitative defects of alpha-dystroglycan' - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'disease' - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'part_of' some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'disease' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary qualitative or quantitative defects of alpha-dystroglycan' Class: http://www.orpha.net/ORDO/Orphanet_139036 Label: Branchial arch or oral-acral syndrome - 'Branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' + 'Branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280090 Label: ALG11, alpha-1,2-mannosyltransferase - 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG11-CDG' - 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'gene' + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG11-CDG' + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_182086 Label: Acquired peripheral neuropathy - 'Acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139039 Label: Orofacial clefting syndrome - 'Orofacial clefting syndrome' SubClassOf 'group of disorders' + 'Orofacial clefting syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1450 Label: Ring chromosome 8 - 'Ring chromosome 8' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 8' SubClassOf 'malformation syndrome' + 'Ring chromosome 8' SubClassOf 'malformation syndrome' + 'Ring chromosome 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_183527 Label: Genetic bone tumor - 'Genetic bone tumor' SubClassOf 'group of disorders' + 'Genetic bone tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2062 Label: Progressive non-infectious anterior vertebral fusion - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'malformation syndrome' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'malformation syndrome' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1452 Label: Cleidocranial dysplasia - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Cleidocranial dysplasia' SubClassOf 'malformation syndrome' - 'Cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Cleidocranial dysplasia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cleidocranial dysplasia' SubClassOf 'malformation syndrome' + 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2063 Label: Splenogonadal fusion - limb defects - micrognathia - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'malformation syndrome' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'malformation syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1451 Label: CINCA syndrome - 'CINCA syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CINCA syndrome' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'CINCA syndrome' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' - 'CINCA syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CINCA syndrome' SubClassOf 'disease' - 'CINCA syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryopyrin-associated periodic syndrome' + 'CINCA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CINCA syndrome' SubClassOf 'disease' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2064 Label: Posterior fusion of lumbosacral vertebrae - blepharoptosis - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'malformation syndrome' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'malformation syndrome' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159434 Label: cyclic nucleotide gated channel beta 1 - 'cyclic nucleotide gated channel beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'cyclic nucleotide gated channel beta 1' SubClassOf 'gene' + 'cyclic nucleotide gated channel beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclic nucleotide gated channel beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cyclic nucleotide gated channel beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2065 Label: Galloway-Mowat syndrome - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Galloway-Mowat syndrome' SubClassOf 'malformation syndrome' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Galloway-Mowat syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Galloway-Mowat syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf 'malformation syndrome' + 'Galloway-Mowat syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Galloway-Mowat syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139030 Label: Malformation syndrome with connective tissue involvement - 'Malformation syndrome with connective tissue involvement' SubClassOf 'group of disorders' + 'Malformation syndrome with connective tissue involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2066 Label: Gamma-aminobutyric acid transaminase deficiency - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Disorder of gamma-aminobutyric acid metabolism' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Disorder of beta and omega amino acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of beta and omega amino acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of gamma-aminobutyric acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2067 Label: GAPO syndrome - 'GAPO syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'GAPO syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'GAPO syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'GAPO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GAPO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GAPO syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'GAPO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GAPO syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'GAPO syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'GAPO syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'GAPO syndrome' SubClassOf 'malformation syndrome' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'GAPO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'GAPO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GAPO syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254492 Label: Frontal fibrosing alopecia - 'Frontal fibrosing alopecia' SubClassOf 'disease' - 'Frontal fibrosing alopecia' SubClassOf 'has_prevalence' some 'Unknown' - 'Frontal fibrosing alopecia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Alopecia' - 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Frontal fibrosing alopecia' SubClassOf 'disease' + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Frontal fibrosing alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_122110 Label: gap junction protein, gamma 2, 47kDa - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'gene' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 44' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 44' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' + 'gap junction protein, gamma 2, 47kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41-q42"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, gamma 2, 47kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183524 Label: Rare genetic bone disease - 'Rare genetic bone disease' SubClassOf 'group of disorders' + 'Rare genetic bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1458 Label: CODAS syndrome - 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CODAS syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'CODAS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CODAS syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'CODAS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CODAS syndrome' SubClassOf 'malformation syndrome' + 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CODAS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CODAS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CODAS syndrome' SubClassOf 'malformation syndrome' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2069 Label: Gastrocutaneous syndrome - 'Gastrocutaneous syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Gastrocutaneous syndrome' SubClassOf 'disease' - 'Gastrocutaneous syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Gastrocutaneous syndrome' SubClassOf 'disease' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_35737 Label: Morning glory syndrome - 'Morning glory syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Morning glory syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Morning glory syndrome' SubClassOf 'part_of' some 'Optic neuropathy' - 'Morning glory syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Morning glory syndrome' SubClassOf 'morphological anomaly' + 'Morning glory syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Morning glory syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' + 'Morning glory syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1457 Label: Aorta coarctation - 'Aorta coarctation' SubClassOf 'part_of' some 'Aortic malformation' - 'Aorta coarctation' SubClassOf 'has_prevalence' some 'Unknown' - 'Aorta coarctation' SubClassOf 'morphological anomaly' - 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aorta coarctation' SubClassOf 'morphological anomaly' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "59.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "78.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1459 Label: Celiac disease, epilepsy and cerebral calcification syndrome - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'malformation syndrome' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'disease' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122114 Label: gap junction protein, alpha 3, 46kDa - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'gene' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 3, 46kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.11"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_1454 Label: Joubert syndrome with hepatic defect - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with hepatic defect' SubClassOf 'disease' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with hepatic defect' SubClassOf 'disease' + 'Joubert syndrome with hepatic defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with hepatic defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with hepatic defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1453 Label: Cleidorhizomelic syndrome - 'Cleidorhizomelic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleidorhizomelic syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Cleidorhizomelic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleidorhizomelic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleidorhizomelic syndrome' SubClassOf 'malformation syndrome' + 'Cleidorhizomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Cleidorhizomelic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleidorhizomelic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleidorhizomelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleidorhizomelic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1456 Label: Atypical coarctation of aorta - 'Atypical coarctation of aorta' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' - 'Atypical coarctation of aorta' SubClassOf 'clinical subtype' - 'Atypical coarctation of aorta' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical coarctation of aorta' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Atypical coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorta coarctation' + 'Atypical coarctation of aorta' SubClassOf 'clinical subtype' + 'Atypical coarctation of aorta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical coarctation of aorta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical coarctation of aorta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1455 Label: Autosomal dominant coarctation of aorta - 'Autosomal dominant coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autosomal dominant coarctation of aorta' SubClassOf 'clinical subtype' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autosomal dominant coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorta coarctation' + 'Autosomal dominant coarctation of aorta' SubClassOf 'clinical subtype' + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122118 Label: gap junction protein, alpha 8, 50kDa - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'gene' - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'gap junction protein, alpha 8, 50kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 8, 50kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_284818 Label: Disorder of tyrosine metabolism - 'Disorder of tyrosine metabolism' SubClassOf 'group of disorders' + 'Disorder of tyrosine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_35710 Label: Glucose-galactose malabsorption - 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glucose-galactose malabsorption' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glucose-galactose malabsorption' SubClassOf 'disease' - 'Glucose-galactose malabsorption' SubClassOf 'part_of' some 'Congenital intestinal transport defect' - 'Glucose-galactose malabsorption' SubClassOf 'has_prevalence' some 'Unknown' - 'Glucose-galactose malabsorption' SubClassOf 'part_of' some 'Glucose transport disorder' + 'Glucose-galactose malabsorption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal transport defect' + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Glucose-galactose malabsorption' SubClassOf 'disease' + 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_182070 Label: Rare neurodegenerative disease - 'Rare neurodegenerative disease' SubClassOf 'group of disorders' + 'Rare neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182076 Label: Syndromic neurometabolic disease with X-linked intellectual disability - 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'group of disorders' + 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139027 Label: Malformation syndrome with skin/mucosae involvement - 'Malformation syndrome with skin/mucosae involvement' SubClassOf 'group of disorders' + 'Malformation syndrome with skin/mucosae involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182073 Label: Syndromic neurometabolic disease with non-X-linked intellectual disability - 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'group of disorders' + 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284811 Label: Syndromic oculocutaneous albinism - 'Syndromic oculocutaneous albinism' SubClassOf 'group of disorders' + 'Syndromic oculocutaneous albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182079 Label: ARX-related epileptic encephalopathy - 'ARX-related epileptic encephalopathy' SubClassOf 'group of disorders' + 'ARX-related epileptic encephalopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139024 Label: Overgrowth/obesity syndrome - 'Overgrowth/obesity syndrome' SubClassOf 'group of disorders' + 'Overgrowth/obesity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183521 Label: Rare genetic movement disorder - 'Rare genetic movement disorder' SubClassOf 'group of disorders' + 'Rare genetic movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284814 Label: Disorder of phenylalanine metabolism - 'Disorder of phenylalanine metabolism' SubClassOf 'group of disorders' + 'Disorder of phenylalanine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_42775 Label: PHACE syndrome - 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Vascular tumor' - 'PHACE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'PHACE syndrome' SubClassOf 'part_of' some 'Palpebral tumor with a vascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'PHACE syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'PHACE syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'PHACE syndrome' SubClassOf 'malformation syndrome' - 'PHACE syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor with a vascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PHACE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'PHACE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'PHACE syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159421 Label: desmoglein 4 - 'desmoglein 4' SubClassOf 'gene' - 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' - 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'desmoglein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'desmoglein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' Class: http://www.orpha.net/ORDO/Orphanet_2034 Label: Filariasis - 'Filariasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Filariasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Filariasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Filariasis' SubClassOf 'group of disorders' + 'Filariasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Filariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Filariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Filariasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139021 Label: Malformation syndrome with short stature - 'Malformation syndrome with short stature' SubClassOf 'group of disorders' + 'Malformation syndrome with short stature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2035 Label: Lymphatic filariasis - 'Lymphatic filariasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphatic filariasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Lymphatic filariasis' SubClassOf 'part_of' some 'Filariasis' - 'Lymphatic filariasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphatic filariasis' SubClassOf 'disease' + 'Lymphatic filariasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Lymphatic filariasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphatic filariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Lymphatic filariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lymphatic filariasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183512 Label: Rare genetic epilepsy - 'Rare genetic epilepsy' SubClassOf 'group of disorders' + 'Rare genetic epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2032 Label: Idiopathic pulmonary fibrosis - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Idiopathic pulmonary fibrosis' SubClassOf 'disease' - 'Idiopathic pulmonary fibrosis' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.94"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "38.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'disease' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_183518 Label: Rare hereditary ataxia - 'Rare hereditary ataxia' SubClassOf 'group of disorders' + 'Rare hereditary ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2030 Label: Fibrosarcoma - 'Fibrosarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fibrosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Fibrosarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Fibrosarcoma' SubClassOf 'part_of' some 'Bone sarcoma' - 'Fibrosarcoma' SubClassOf 'disease' + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Fibrosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fibrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrosarcoma' SubClassOf 'disease' + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2031 Label: Hepatic fibrosis - renal cysts - intellectual disability - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'malformation syndrome' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'malformation syndrome' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_183515 Label: Rare genetic medullar disease - 'Rare genetic medullar disease' SubClassOf 'group of disorders' + 'Rare genetic medullar disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1423 Label: Lethal recessive chondrodysplasia - 'Lethal recessive chondrodysplasia' SubClassOf 'malformation syndrome' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal recessive chondrodysplasia' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lethal recessive chondrodysplasia' SubClassOf 'malformation syndrome' + 'Lethal recessive chondrodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal recessive chondrodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal recessive chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1422 Label: Chondrodysplasia - disorder of sex development - 'Chondrodysplasia - disorder of sex development' SubClassOf 'malformation syndrome' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Chondrodysplasia - disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chondrodysplasia - disorder of sex development' SubClassOf 'malformation syndrome' + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122129 Label: gap junction protein, beta 2, 26kDa - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Porokeratotic eccrine ostial and dermal duct nevus' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis-deafness syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'gene' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans' + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Porokeratotic eccrine ostial and dermal duct nevus' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis-deafness syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' Class: http://www.orpha.net/ORDO/Orphanet_405637 Label: unc-45 homolog B (C. elegans) - 'unc-45 homolog B (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'unc-45 homolog B (C. elegans)' SubClassOf 'gene' + 'unc-45 homolog B (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'unc-45 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'unc-45 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1421 Label: Lethal chondrodysplasia, Seller type - 'Lethal chondrodysplasia, Seller type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal chondrodysplasia, Seller type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Seller type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' + 'Lethal chondrodysplasia, Seller type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35708 Label: Aromatic L-amino acid decarboxylase deficiency - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'part_of' some 'Disorder of catecholamine synthesis' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of catecholamine synthesis' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1420 Label: Lethal chondrodysplasia, Moerman type - 'Lethal chondrodysplasia, Moerman type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal chondrodysplasia, Moerman type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Moerman type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Moerman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1427 Label: Otospondylomegaepiphyseal dysplasia - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'disease' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'disease' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2038 Label: Pulmonary arteriovenous fistula - 'Pulmonary arteriovenous fistula' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary arteriovenous fistula' SubClassOf 'morphological anomaly' - 'Pulmonary arteriovenous fistula' SubClassOf 'part_of' some 'Arteriovenous fistula' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pulmonary arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Pulmonary arteriovenous fistula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary arteriovenous fistula' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arteriovenous fistula' SubClassOf 'morphological anomaly' + 'Pulmonary arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous fistula' + 'Pulmonary arteriovenous fistula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_35706 Label: Glutaric acidemia type 3 - 'Glutaric acidemia type 3' SubClassOf 'part_of' some 'Energy metabolism disorder with epilepsy' - 'Glutaric acidemia type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Glutaric acidemia type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glutaric acidemia type 3' SubClassOf 'disease' - 'Glutaric acidemia type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glutaric acidemia type 3' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Energy metabolism disorder with epilepsy' + 'Glutaric acidemia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutaric acidemia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Glutaric acidemia type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1426 Label: Greenberg dysplasia - 'Greenberg dysplasia' SubClassOf 'disease' - 'Greenberg dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Greenberg dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Greenberg dysplasia' SubClassOf 'part_of' some 'Chondrodysplasia punctata' - 'Greenberg dysplasia' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'Greenberg dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Greenberg dysplasia' SubClassOf 'disease' + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Greenberg dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Greenberg dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'Greenberg dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2039 Label: Systemic arteriovenous fistula - 'Systemic arteriovenous fistula' SubClassOf 'part_of' some 'Arteriovenous fistula' - 'Systemic arteriovenous fistula' SubClassOf 'morphological anomaly' + 'Systemic arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous fistula' + 'Systemic arteriovenous fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_35705 Label: Neurometabolic disorder due to serine deficiency - 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of disorders' + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of disorders' + 'Neurometabolic disorder due to serine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1425 Label: Desbuquois syndrome - 'Desbuquois syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Desbuquois syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Desbuquois syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Desbuquois syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Desbuquois syndrome' SubClassOf 'disease' - 'Desbuquois syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Desbuquois syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Desbuquois syndrome' SubClassOf 'disease' + 'Desbuquois syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Desbuquois syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122124 Label: gap junction protein, beta 1, 32kDa - 'gap junction protein, beta 1, 32kDa' SubClassOf 'gene' - 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked progressive cerebellar ataxia' - 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 1' + 'gap junction protein, beta 1, 32kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked progressive cerebellar ataxia' + 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 1' + 'gap junction protein, beta 1, 32kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2036 Label: Scalp-ear-nipple syndrome - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Scalp-ear-nipple syndrome' SubClassOf 'malformation syndrome' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' + 'Scalp-ear-nipple syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scalp-ear-nipple syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scalp-ear-nipple syndrome' SubClassOf 'malformation syndrome' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35704 Label: Arginine:glycine amidinotransferase deficiency - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'part_of' some 'Disorder of creatine biosynthesis' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of creatine biosynthesis' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arginine:glycine amidinotransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_159426 Label: arginyl-tRNA synthetase 2, mitochondrial - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 6' - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.1"^^http://www.w3.org/2001/XMLSchema#string + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 6' + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_2037 Label: Aorta-pulmonary artery fistula - 'Aorta-pulmonary artery fistula' SubClassOf 'morphological anomaly' - 'Aorta-pulmonary artery fistula' SubClassOf 'part_of' some 'Conotruncal heart malformations' + 'Aorta-pulmonary artery fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Aorta-pulmonary artery fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1428 Label: Familial chondromalacia patellae - 'Familial chondromalacia patellae' SubClassOf 'disease' - 'Familial chondromalacia patellae' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial chondromalacia patellae' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Familial chondromalacia patellae' SubClassOf 'part_of' some 'Patellar dysostosis' + 'Familial chondromalacia patellae' SubClassOf 'disease' + 'Familial chondromalacia patellae' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial chondromalacia patellae' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial chondromalacia patellae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Familial chondromalacia patellae' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409938 Class: http://www.orpha.net/ORDO/Orphanet_1429 Label: Benign familial chorea - 'Benign familial chorea' SubClassOf 'disease' - 'Benign familial chorea' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Benign familial chorea' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' + 'Benign familial chorea' SubClassOf 'disease' + 'Benign familial chorea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Benign familial chorea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_228003 Label: Severe combined immunodeficiency due to CORO1A deficiency - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363400 Label: Severe neurodegenerative syndrome with lipodystrophy - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'disease' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_182061 Label: Cerebellar malformation - 'Cerebellar malformation' SubClassOf 'group of disorders' + 'Cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182064 Label: Rare neuroinflammatory or neuroimmunological disease - 'Rare neuroinflammatory or neuroimmunological disease' SubClassOf 'group of disorders' + 'Rare neuroinflammatory or neuroimmunological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280071 Label: ALG11-CDG - 'ALG11-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG11-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG11-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG11-CDG' SubClassOf 'disease' - 'ALG11-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG11-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'ALG11-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG11-CDG' SubClassOf 'disease' + 'ALG11-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_139012 Label: Rare bone development disorder - 'Rare bone development disorder' SubClassOf 'group of disorders' + 'Rare bone development disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284804 Label: Ocular albinism - 'Ocular albinism' SubClassOf 'group of disorders' + 'Ocular albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182067 Label: Glial tumor - 'Glial tumor' SubClassOf 'group of disorders' + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370980 Label: Congenital muscular dystrophy without intellectual disability - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'disease' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'disease' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_183500 Label: Genetic neurodegenerative disease - 'Genetic neurodegenerative disease' SubClassOf 'group of disorders' + 'Genetic neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121000 Label: cytochrome P450, family 2, subfamily R, polypeptide 1 - 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2044 Label: Floating-Harbor syndrome - 'Floating-Harbor syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Floating-Harbor syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Floating-Harbor syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Floating-Harbor syndrome' SubClassOf 'malformation syndrome' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf 'malformation syndrome' + 'Floating-Harbor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Floating-Harbor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183503 Label: Genetic central nervous system and retinal vascular disease - 'Genetic central nervous system and retinal vascular disease' SubClassOf 'group of disorders' + 'Genetic central nervous system and retinal vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2045 Label: FLOTCH syndrome - 'FLOTCH syndrome' SubClassOf 'disease' - 'FLOTCH syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' + 'FLOTCH syndrome' SubClassOf 'disease' + 'FLOTCH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2040 Label: Congenital bronchobiliary fistula - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Congenital bronchobiliary fistula' SubClassOf 'morphological anomaly' - 'Congenital bronchobiliary fistula' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital bronchobiliary fistula' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital bronchobiliary fistula' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Respiratory malformation' + 'Congenital bronchobiliary fistula' SubClassOf 'morphological anomaly' + 'Congenital bronchobiliary fistula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital bronchobiliary fistula' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Congenital bronchobiliary fistula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2041 Label: Coronary arterial fistulas - 'Coronary arterial fistulas' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Coronary arterial fistulas' SubClassOf 'part_of' some 'Coronary artery congenital malformation' - 'Coronary arterial fistulas' SubClassOf 'has_prevalence' some 'Unknown' - 'Coronary arterial fistulas' SubClassOf 'morphological anomaly' - 'Coronary arterial fistulas' SubClassOf 'has_inheritance' some 'sporadic' + 'Coronary arterial fistulas' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Coronary arterial fistulas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coronary artery congenital malformation' + 'Coronary arterial fistulas' SubClassOf 'morphological anomaly' + 'Coronary arterial fistulas' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_183506 Label: Genetic central nervous system malformation - 'Genetic central nervous system malformation' SubClassOf 'group of disorders' + 'Genetic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2042 Label: Tracheo-esophageal fistula - hypospadias - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Respiratory malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Larynx anomaly' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'malformation syndrome' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Tracheal anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'malformation syndrome' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_121007 Label: D-2-hydroxyglutarate dehydrogenase - 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' - 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'gene' + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122139 Label: gap junction protein, beta 4, 30.3kDa - 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'gene' - 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 4, 30.3kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35-p34"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 4, 30.3kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183509 Label: Rare genetic headache - 'Rare genetic headache' SubClassOf 'group of disorders' + 'Rare genetic headache' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1431 Label: Paroxysmal dyskinesia - 'Paroxysmal dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' - 'Paroxysmal dyskinesia' SubClassOf 'group of disorders' + 'Paroxysmal dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal dyskinesia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1434 Label: Choroideremia - hypopituitarism - 'Choroideremia - hypopituitarism' SubClassOf 'disease' - 'Choroideremia - hypopituitarism' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Choroideremia - hypopituitarism' SubClassOf 'disease' + 'Choroideremia - hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_121005 Label: cytochrome P450, family 7, subfamily B, polypeptide 1 - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 5A' - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 3' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 5A' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 3' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254478 Label: Lichen planus pemphigoides - 'Lichen planus pemphigoides' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Lichen planus pemphigoides' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lichen planus pemphigoides' SubClassOf 'disease' - 'Lichen planus pemphigoides' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lichen planus pemphigoides' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lichen planus pemphigoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lichen planus pemphigoides' SubClassOf 'disease' + 'Lichen planus pemphigoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1433 Label: Choroidal atrophy - alopecia - 'Choroidal atrophy - alopecia' SubClassOf 'malformation syndrome' - 'Choroidal atrophy - alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choroidal atrophy - alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Choroidal atrophy - alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Choroidal atrophy - alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Choroidal atrophy - alopecia' SubClassOf 'malformation syndrome' + 'Choroidal atrophy - alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Choroidal atrophy - alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choroidal atrophy - alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1436 Label: Skeletal dysplasia - intellectual disability - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Skeletal dysplasia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_122135 Label: gap junction protein, beta 3, 31kDa - 'gap junction protein, beta 3, 31kDa' SubClassOf 'gene' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuropathy with hearing impairment' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transgrediens et progrediens palmoplantar keratoderma' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 3, 31kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuropathy with hearing impairment' + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 3, 31kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2047 Label: Flynn-Aird syndrome - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Flynn-Aird syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Flynn-Aird syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Flynn-Aird syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Flynn-Aird syndrome' SubClassOf 'disease' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Flynn-Aird syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Flynn-Aird syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Flynn-Aird syndrome' SubClassOf 'disease' + 'Flynn-Aird syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1435 Label: Choroideremia - deafness - obesity - 'Choroideremia - deafness - obesity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Choroideremia - deafness - obesity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choroideremia - deafness - obesity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Syndromic obesity' - 'Choroideremia - deafness - obesity' SubClassOf 'malformation syndrome' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Choroideremia - deafness - obesity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Choroideremia - deafness - obesity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' + 'Choroideremia - deafness - obesity' SubClassOf 'malformation syndrome' + 'Choroideremia - deafness - obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_228000 Label: Idiopathic CD4 lymphocytopenia - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_inheritance' some 'sporadic' + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease' + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_159414 Label: lipoma HMGIC fusion partner-like 5 - 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'lipoma HMGIC fusion partner-like 5' SubClassOf 'gene' + 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'lipoma HMGIC fusion partner-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'lipoma HMGIC fusion partner-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1438 Label: Ring chromosome 10 - 'Ring chromosome 10' SubClassOf 'malformation syndrome' - 'Ring chromosome 10' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 10' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 10' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ring chromosome 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ring chromosome 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ring chromosome 10' SubClassOf 'malformation syndrome' + 'Ring chromosome 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_1437 Label: Ring chromosome 1 - 'Ring chromosome 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring chromosome 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 1' SubClassOf 'malformation syndrome' - 'Ring chromosome 1' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 1' SubClassOf 'malformation syndrome' + 'Ring chromosome 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_121002 Label: cytochrome P450, family 4, subfamily V, polypeptide 2 - 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bietti crystalline dystrophy' - 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bietti crystalline dystrophy' + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2092 Label: Focal dermal hypoplasia - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Focal dermal hypoplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' - 'Focal dermal hypoplasia' SubClassOf 'malformation syndrome' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Focal dermal hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Focal dermal hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Focal dermal hypoplasia' SubClassOf 'malformation syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Focal dermal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Focal dermal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_2090 Label: GMS syndrome - 'GMS syndrome' SubClassOf 'part_of' some 'Goniodysgenesis' - 'GMS syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'GMS syndrome' SubClassOf 'malformation syndrome' - 'GMS syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'GMS syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf 'malformation syndrome' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Goniodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_2091 Label: Multinodular goiter - cystic kidney - polydactyly - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'malformation syndrome' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'malformation syndrome' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139009 Label: Developmental anomaly of metabolic origin - 'Developmental anomaly of metabolic origin' SubClassOf 'group of disorders' + 'Developmental anomaly of metabolic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159403 Label: solute carrier family 39 (zinc transporter), member 13 - 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' - 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'gene' + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306110 Label: matrix metallopeptidase 1 (interstitial collagenase) - 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'Modifying germline mutation in' some 'Severe generalized recessive dystrophic epidermolysis bullosa' - 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'gene' + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'Modifying germline mutation in' some 'Severe generalized recessive dystrophic epidermolysis bullosa' + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261190 Label: 15q14 microdeletion syndrome - '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '15q14 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' - '15q14 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q14 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '15q14 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q14 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122149 Label: glycerol kinase - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, adult form' - 'glycerol kinase' SubClassOf 'gene' - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, infantile form' - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, juvenile form' + 'glycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, adult form' + 'glycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, infantile form' + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_2097 Label: Grant syndrome - 'Grant syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Grant syndrome' SubClassOf 'malformation syndrome' + 'Grant syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Grant syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2095 Label: Gorlin-Chaudhry-Moss syndrome - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'malformation syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122142 Label: gap junction protein, beta 6, 30kDa - 'gap junction protein, beta 6, 30kDa' SubClassOf 'gene' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hidrotic ectodermal dysplasia' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 6, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 6, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hidrotic ectodermal dysplasia' + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_2098 Label: Acromesomelic dysplasia, Grebe type - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'malformation syndrome' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_prevalence' some 'Unknown' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'malformation syndrome' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acromesomelic dysplasia, Grebe type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_261197 Label: Proximal 16p11.2 microdeletion syndrome - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_306106 Label: coiled-coil domain containing 11 - 'coiled-coil domain containing 11' SubClassOf 'gene' - 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' - 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' + 'coiled-coil domain containing 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' + 'coiled-coil domain containing 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' Class: http://www.orpha.net/ORDO/Orphanet_1406 Label: Charlie M syndrome - 'Charlie M syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Charlie M syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Charlie M syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Charlie M syndrome' SubClassOf 'malformation syndrome' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Oromandibular-limb hypogenesis syndrome' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Charlie M syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Charlie M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Charlie M syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Charlie M syndrome' SubClassOf 'malformation syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oromandibular-limb hypogenesis syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1409 Label: Woolly hair - hypotrichosis - everted lower lip - outstanding ears - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'malformation syndrome' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'malformation syndrome' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1408 Label: Hair defect - photosensitivity - intellectual disability - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'malformation syndrome' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306100 Label: KIAA1377 - 'KIAA1377' SubClassOf 'gene' - 'KIAA1377' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'KIAA1377' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA1377' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'KIAA1377' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122156 Label: galactosidase, beta 1 - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4B' - 'galactosidase, beta 1' SubClassOf 'gene' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 1' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 3' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 2' + 'galactosidase, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4B' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 1' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 2' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 3' + 'galactosidase, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1414 Label: Cholestasis-lymphedema syndrome - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cholestasis-lymphedema syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cholestasis-lymphedema syndrome' SubClassOf 'disease' + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1415 Label: Cholestasis - pigmentary retinopathy - cleft palate - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_inheritance' some 'sporadic' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'malformation syndrome' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'malformation syndrome' + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261183 Label: 15q11.2 microdeletion syndrome - '15q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '15q11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + '15q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1416 Label: Familial calcium pyrophosphate deposition - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial calcium pyrophosphate deposition' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Familial calcium pyrophosphate deposition' SubClassOf 'disease' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some 'sporadic' + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial calcium pyrophosphate deposition' SubClassOf 'disease' + 'Familial calcium pyrophosphate deposition' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1410 Label: Uncombable hair syndrome - 'Uncombable hair syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Uncombable hair syndrome' SubClassOf 'disease' - 'Uncombable hair syndrome' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Uncombable hair syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Uncombable hair syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Uncombable hair syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Uncombable hair syndrome' SubClassOf 'disease' + 'Uncombable hair syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Uncombable hair syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_1412 Label: Tarsal-carpal coalition syndrome - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tarsal-carpal coalition syndrome' SubClassOf 'malformation syndrome' - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tarsal-carpal coalition syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tarsal-carpal coalition syndrome' SubClassOf 'malformation syndrome' + 'Tarsal-carpal coalition syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tarsal-carpal coalition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_122153 Label: galactosidase, alpha - 'galactosidase, alpha' SubClassOf 'gene' - 'galactosidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fabry disease' + 'galactosidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.3-q22"^^http://www.w3.org/2001/XMLSchema#string + 'galactosidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fabry disease' Class: http://www.orpha.net/ORDO/Orphanet_2070 Label: Eosinophilic gastroenteritis - 'Eosinophilic gastroenteritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Eosinophilic gastroenteritis' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Eosinophilic gastroenteritis' SubClassOf 'disease' - 'Eosinophilic gastroenteritis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' - 'Eosinophilic gastroenteritis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Eosinophilic gastroenteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic gastroenteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eosinophilic gastroenteritis' SubClassOf 'disease' + 'Eosinophilic gastroenteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_122167 Label: GLI family zinc finger 3 - 'GLI family zinc finger 3' SubClassOf 'gene' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greig cephalopolysyndactyly syndrome' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pallister-Hall syndrome' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Greig cephalopolysyndactyly syndrome' + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13"^^http://www.w3.org/2001/XMLSchema#string + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pallister-Hall syndrome' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2078 Label: Geroderma osteodysplastica - 'Geroderma osteodysplastica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Geroderma osteodysplastica' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Geroderma osteodysplastica' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Geroderma osteodysplastica' SubClassOf 'part_of' some 'Cutis laxa' - 'Geroderma osteodysplastica' SubClassOf 'malformation syndrome' - 'Geroderma osteodysplastica' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Geroderma osteodysplastica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Geroderma osteodysplastica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Geroderma osteodysplastica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Geroderma osteodysplastica' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2077 Label: German syndrome - 'German syndrome' SubClassOf 'malformation syndrome' - 'German syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'German syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'German syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'German syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'German syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'German syndrome' SubClassOf 'malformation syndrome' + 'German syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'German syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2076 Label: X-linked intellectual disability - epilepsy - 'X-linked intellectual disability - epilepsy' SubClassOf 'group of disorders' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability - epilepsy' SubClassOf 'group of disorders' + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2075 Label: Genito-palato-cardiac syndrome - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Genito-palato-cardiac syndrome' SubClassOf 'malformation syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Genito-palato-cardiac syndrome' SubClassOf 'malformation syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2073 Label: Narcolepsy-cataplexy - 'Narcolepsy-cataplexy' SubClassOf 'disease' - 'Narcolepsy-cataplexy' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Narcolepsy-cataplexy' SubClassOf 'part_of' some 'Sleep disorder' - 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "34.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf 'disease' + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Narcolepsy-cataplexy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122160 Label: glycine dehydrogenase (decarboxylating) - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'gene' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine dehydrogenase (decarboxylating)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p22"^^http://www.w3.org/2001/XMLSchema#string + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_2072 Label: Gaucher disease - ophthalmoplegia - cardiovascular calcification - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'part_of' some 'Gaucher disease' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2081 Label: Cerebral gigantism - jaw cysts - 'Cerebral gigantism - jaw cysts' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Cerebral gigantism - jaw cysts' SubClassOf 'malformation syndrome' - 'Cerebral gigantism - jaw cysts' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cerebral gigantism - jaw cysts' SubClassOf 'malformation syndrome' + 'Cerebral gigantism - jaw cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Cerebral gigantism - jaw cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Cerebral gigantism - jaw cysts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217260 Label: Progressive multifocal leukoencephalopathy - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'disease' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive multifocal leukoencephalopathy' SubClassOf 'disease' + 'Progressive multifocal leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122179 Label: glycine receptor, alpha 1 - 'glycine receptor, alpha 1' SubClassOf 'gene' - 'glycine receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'glycine receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_2088 Label: Glycogen storage disease due to GLUT2 deficiency - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Glucose transport disorder' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2087 Label: Glomerulonephritis - sparse hair - telangiectasis - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'malformation syndrome' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'malformation syndrome' + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_2089 Label: Glycogen storage disease due to hepatic glycogen synthase deficiency - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen synthase deficiency' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen synthase deficiency' + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2084 Label: Glaucoma - ectopia - microspherophakia - stiff joints - short stature - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'part_of' some 'Lens size anomaly' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'malformation syndrome' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217266 Label: BNAR syndrome - 'BNAR syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'BNAR syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'BNAR syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'BNAR syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'BNAR syndrome' SubClassOf 'part_of' some 'Rare otorhinolaryngological malformation' - 'BNAR syndrome' SubClassOf 'malformation syndrome' - 'BNAR syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'BNAR syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'BNAR syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngological malformation' + 'BNAR syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf 'malformation syndrome' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'BNAR syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2083 Label: Prominent glabella - microcephaly - hypogenitalism - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'malformation syndrome' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'malformation syndrome' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122172 Label: glomulin, FKBP associated protein - 'glomulin, FKBP associated protein' SubClassOf 'gene' - 'glomulin, FKBP associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glomuvenous malformation' + 'glomulin, FKBP associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'glomulin, FKBP associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glomulin, FKBP associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glomuvenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2086 Label: Optic pathway glioma - 'Optic pathway glioma' SubClassOf 'disease' - 'Optic pathway glioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Optic pathway glioma' SubClassOf 'part_of' some 'Tumor of cranial and spinal nerves' - 'Optic pathway glioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Optic pathway glioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Optic pathway glioma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' + 'Optic pathway glioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Optic pathway glioma' SubClassOf 'disease' + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of cranial and spinal nerves' + 'Optic pathway glioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Optic pathway glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2085 Label: Glaucoma - sleep apnea - 'Glaucoma - sleep apnea' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Glaucoma - sleep apnea' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Glaucoma - sleep apnea' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Glaucoma - sleep apnea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glaucoma - sleep apnea' SubClassOf 'disease' + 'Glaucoma - sleep apnea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Glaucoma - sleep apnea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Glaucoma - sleep apnea' SubClassOf 'disease' + 'Glaucoma - sleep apnea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Glaucoma - sleep apnea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122078 Label: glial fibrillary acidic protein - 'glial fibrillary acidic protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alexander disease type II' - 'glial fibrillary acidic protein' SubClassOf 'gene' - 'glial fibrillary acidic protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alexander disease type I' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Alexander disease type I' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Alexander disease type II' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261144 Label: 14q12 microdeletion syndrome - '14q12 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - '14q12 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '14q12 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '14q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_320176 Label: structural maintenance of chromosomes flexible hinge domain containing 1 - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy' - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'gene' - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.32"^^http://www.w3.org/2001/XMLSchema#string + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2101 Label: Grubben-de Cock-Borghgraef syndrome - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'malformation syndrome' - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'malformation syndrome' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122076 Label: glial cell derived neurotrophic factor - 'glial cell derived neurotrophic factor' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'glial cell derived neurotrophic factor' SubClassOf 'gene' - 'glial cell derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'glial cell derived neurotrophic factor' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'glial cell derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glial cell derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159394 Label: tubulin, alpha 1a - 'tubulin, alpha 1a' SubClassOf 'gene' - 'tubulin, alpha 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to TUBA1A mutation' + 'tubulin, alpha 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to TUBA1A mutation' + 'tubulin, alpha 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'tubulin, alpha 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250175 Label: magnesium transporter 1 - 'magnesium transporter 1' SubClassOf 'gene' - 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' - 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'magnesium transporter 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'magnesium transporter 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' + 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2108 Label: Hallermann-Streiff syndrome - 'Hallermann-Streiff syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hallermann-Streiff syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Craniofacial anomaly with cataract' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Congenital absence of the eyebrow/eyelashes' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Hallermann-Streiff syndrome' SubClassOf 'malformation syndrome' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hallermann-Streiff syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hallermann-Streiff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hallermann-Streiff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hallermann-Streiff syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hallermann-Streiff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniofacial anomaly with cataract' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Hallermann-Streiff syndrome' SubClassOf 'malformation syndrome' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of the eyebrow/eyelashes' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2107 Label: Hall-Riggs syndrome - 'Hall-Riggs syndrome' SubClassOf 'malformation syndrome' - 'Hall-Riggs syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hall-Riggs syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hall-Riggs syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf 'malformation syndrome' + 'Hall-Riggs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hall-Riggs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2102 Label: GTP cyclohydrolase I deficiency - 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GTP cyclohydrolase I deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'GTP cyclohydrolase I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GTP cyclohydrolase I deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178396 Label: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some 'sporadic' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'disease' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'disease' + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_2103 Label: Guillain-Barr� syndrome - 'Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Guillain-Barr� syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Guillain-Barr� syndrome' SubClassOf 'group of disorders' - 'Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.45"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_236638 Label: Sp7 transcription factor - 'Sp7 transcription factor' SubClassOf 'gene' - 'Sp7 transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'Sp7 transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'Sp7 transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'Sp7 transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183490 Label: Genetic photodermatosis - 'Genetic photodermatosis' SubClassOf 'group of disorders' + 'Genetic photodermatosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304804 Label: nuclear receptor subfamily 1, group H, member 4 - 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' - 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'gene' + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159390 Label: zinc finger, FYVE domain containing 26 - 'zinc finger, FYVE domain containing 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 15' - 'zinc finger, FYVE domain containing 26' SubClassOf 'gene' + 'zinc finger, FYVE domain containing 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger, FYVE domain containing 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 15' + 'zinc finger, FYVE domain containing 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183494 Label: Genetic immune deficiency with skin involvement - 'Genetic immune deficiency with skin involvement' SubClassOf 'group of disorders' + 'Genetic immune deficiency with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119157 Label: calcium channel, voltage-dependent, L type, alpha 1S subunit - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with transient compartment-like syndrome' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'gene' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with transient compartment-like syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183497 Label: Genetic neuromuscular disease - 'Genetic neuromuscular disease' SubClassOf 'group of disorders' + 'Genetic neuromuscular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122064 Label: ganglioside induced differentiation associated protein 1 - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2H' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4A' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'gene' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2H' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4A' + 'ganglioside induced differentiation associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ganglioside induced differentiation associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' Class: http://www.orpha.net/ORDO/Orphanet_178389 Label: Osteopetrosis - hypogammaglobulinemia - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'part_of' some 'Osteopetrosis' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'disease' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'disease' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122066 Label: growth differentiation factor 5 - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibular aplasia - complex brachydactyly' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Grebe type' - 'growth differentiation factor 5' SubClassOf 'gene' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A1' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Hunter-Thomson type' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Angel-shaped phalango-epiphyseal dysplasia' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal symphalangism' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fibular aplasia - complex brachydactyly' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Angel-shaped phalango-epiphyseal dysplasia' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Multiple synostoses syndrome' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Grebe type' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type A2' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Hunter-Thomson type' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type A1' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type C' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Proximal symphalangism' Class: http://www.orpha.net/ORDO/Orphanet_119164 Label: calcium channel, voltage-dependent, beta 2 subunit - 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122062 Label: glycine cleavage system protein H (aminomethyl carrier) - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'gene' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_250181 Label: growth differentiation factor 3 - 'growth differentiation factor 3' SubClassOf 'gene' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'growth differentiation factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178382 Label: Congenital vertical talus - 'Congenital vertical talus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital vertical talus' SubClassOf 'part_of' some 'Congenital deformities of limbs' - 'Congenital vertical talus' SubClassOf 'morphological anomaly' - 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital vertical talus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital vertical talus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital vertical talus' SubClassOf 'morphological anomaly' + 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital vertical talus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of limbs' Class: http://www.orpha.net/ORDO/Orphanet_250183 Label: polymerase (RNA) I polypeptide C, 30kDa - 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'gene' - 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122069 Label: GDP dissociation inhibitor 1 - 'GDP dissociation inhibitor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'GDP dissociation inhibitor 1' SubClassOf 'gene' + 'GDP dissociation inhibitor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'GDP dissociation inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'GDP dissociation inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_35696 Label: Mitochondrial disorder due to a defect in mitochondrial protein synthesis - 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of disorders' + 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363454 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'clinical subtype' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'part_of' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_35698 Label: Mitochondrial DNA depletion syndrome - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of disorders' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75326 Label: Retinal arterial tortuosity - 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some 'sporadic' - 'Retinal arterial tortuosity' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Retinal arterial tortuosity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Retinal arterial tortuosity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Retinal arterial tortuosity' SubClassOf 'disease' - 'Retinal arterial tortuosity' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Retinal arterial tortuosity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinal arterial tortuosity' SubClassOf 'disease' + 'Retinal arterial tortuosity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_75327 Label: North Carolina macular dystrophy - 'North Carolina macular dystrophy' SubClassOf 'disease' - 'North Carolina macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'North Carolina macular dystrophy' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'North Carolina macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'North Carolina macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'North Carolina macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'North Carolina macular dystrophy' SubClassOf 'disease' + 'North Carolina macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'North Carolina macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'North Carolina macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119168 Label: calcium channel, voltage-dependent, beta 4 subunit - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 5' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 5' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_327795 Label: TIA1 cytotoxic granule-associated RNA binding protein - 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Welander type' - 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf 'gene' + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Distal myopathy, Welander type' + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_53035 Label: Caroli disease - 'Caroli disease' SubClassOf 'malformation syndrome' - 'Caroli disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Caroli disease' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Caroli disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Caroli disease' SubClassOf 'part_of' some 'Rare biliary tract disease' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Caroli disease' SubClassOf 'malformation syndrome' + 'Caroli disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_75325 Label: Osteosclerosis - ichthyosis - premature ovarian failure - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'disease' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'disease' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_159373 Label: UPF3 regulator of nonsense transcripts homolog B (yeast) - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'gene' - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25-q26"^^http://www.w3.org/2001/XMLSchema#string + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' Class: http://www.orpha.net/ORDO/Orphanet_122095 Label: growth hormone receptor - 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to partial GHR deficiency' - 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome' - 'growth hormone receptor' SubClassOf 'gene' + 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to partial GHR deficiency' + 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome' + 'growth hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122099 Label: gastric intrinsic factor (vitamin B synthesis) - 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'gene' - 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital intrinsic factor deficiency' + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital intrinsic factor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_183469 Label: Genetic hypopigmentation of the skin - 'Genetic hypopigmentation of the skin' SubClassOf 'group of disorders' + 'Genetic hypopigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_26106 Label: Familial gastric cancer - 'Familial gastric cancer' SubClassOf 'disease' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Gastric cancer' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Familial gastric cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial gastric cancer' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Familial gastric cancer' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Familial gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Familial gastric cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial gastric cancer' SubClassOf 'disease' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_178377 Label: Osteosclerosis-developmental delay-craniosynostosis syndrome - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'malformation syndrome' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'malformation syndrome' + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_261120 Label: 14q11.2 microdeletion syndrome - '14q11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - '14q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '14q11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '14q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + '14q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '14q11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122097 Label: growth hormone releasing hormone receptor - 'growth hormone releasing hormone receptor' SubClassOf 'gene' - 'growth hormone releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_35687 Label: Erdheim-Chester disease - 'Erdheim-Chester disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' - 'Erdheim-Chester disease' SubClassOf 'disease' - 'Erdheim-Chester disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Erdheim-Chester disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Erdheim-Chester disease' SubClassOf 'disease' + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Erdheim-Chester disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_35688 Label: Madelung deformity - 'Madelung deformity' SubClassOf 'morphological anomaly' - 'Madelung deformity' SubClassOf 'part_of' some 'Joint formation defects' - 'Madelung deformity' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Madelung deformity' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Madelung deformity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Madelung deformity' SubClassOf 'has_prevalence' some 'Unknown' + 'Madelung deformity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Madelung deformity' SubClassOf 'morphological anomaly' + 'Madelung deformity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Madelung deformity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Madelung deformity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_397709 Label: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_35686 Label: Serpiginous choroiditis - 'Serpiginous choroiditis' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' - 'Serpiginous choroiditis' SubClassOf 'disease' + 'Serpiginous choroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious posterior uveitis' + 'Serpiginous choroiditis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363489 Label: Testicular sex cord-stromal tumor - 'Testicular sex cord-stromal tumor' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Testicular sex cord-stromal tumor' SubClassOf 'disease' + 'Testicular sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular sex cord-stromal tumor' SubClassOf 'disease' + 'Testicular sex cord-stromal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' + 'Testicular sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_35689 Label: Primary lateral sclerosis - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Motor neuron disease' - 'Primary lateral sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary lateral sclerosis' SubClassOf 'disease' - 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor neuron disease' + 'Primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Primary lateral sclerosis' SubClassOf 'disease' + 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_179419 Label: klotho - 'klotho' SubClassOf 'gene' - 'klotho' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial tumoral calcinosis' + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial tumoral calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_183472 Label: Genetic dermis disorder - 'Genetic dermis disorder' SubClassOf 'group of disorders' + 'Genetic dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122092 Label: growth hormone 1 - 'growth hormone 1' SubClassOf 'gene' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type II' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to growth hormone qualitative anomaly' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' + 'growth hormone 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22-q24"^^http://www.w3.org/2001/XMLSchema#string + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type II' + 'growth hormone 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to growth hormone qualitative anomaly' + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' Class: http://www.orpha.net/ORDO/Orphanet_159370 Label: chloride channel, voltage-sensitive Ka - 'chloride channel, voltage-sensitive Ka' SubClassOf 'gene' - 'chloride channel, voltage-sensitive Ka' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363483 Label: Testicular teratoma - 'Testicular teratoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Testicular teratoma' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Testicular teratoma' SubClassOf 'disease' + 'Testicular teratoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular teratoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Testicular teratoma' SubClassOf 'disease' + 'Testicular teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' Class: http://www.orpha.net/ORDO/Orphanet_122083 Label: gamma-glutamyl carboxylase - 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' - 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' - 'gamma-glutamyl carboxylase' SubClassOf 'gene' + 'gamma-glutamyl carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' + 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' + 'gamma-glutamyl carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284786 Label: Qualitative or quantitative defects of troponin - 'Qualitative or quantitative defects of troponin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of troponin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_250165 Label: Genetic polycythemia - 'Genetic polycythemia' SubClassOf 'group of disorders' + 'Genetic polycythemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label: calcium channel, voltage-dependent, L type, alpha 1C subunit - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Timothy syndrome' - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Timothy syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_250168 Label: polymerase (RNA) I polypeptide D, 16kDa - 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'gene' - 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122086 Label: gamma-glutamyltransferase 1 - 'gamma-glutamyltransferase 1' SubClassOf 'gene' - 'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency' + 'gamma-glutamyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-glutamyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_179413 Label: suppression of tumorigenicity 14 (colon carcinoma) - 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'gene' - 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-hypotrichosis syndrome' + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24-q25"^^http://www.w3.org/2001/XMLSchema#string + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-hypotrichosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183478 Label: Genetic skin vascular disorder - 'Genetic skin vascular disorder' SubClassOf 'group of disorders' + 'Genetic skin vascular disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159387 Label: transmembrane channel-like 8 - 'transmembrane channel-like 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' - 'transmembrane channel-like 8' SubClassOf 'gene' + 'transmembrane channel-like 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' + 'transmembrane channel-like 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane channel-like 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178364 Label: Syndromic microphthalmia type 5 - 'Syndromic microphthalmia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndromic microphthalmia type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic microphthalmia type 5' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Syndromic microphthalmia type 5' SubClassOf 'malformation syndrome' - 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Syndromic microphthalmia type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic microphthalmia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic microphthalmia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndromic microphthalmia type 5' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_59135 Label: Laing early-onset distal myopathy - 'Laing early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Laing early-onset distal myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'Laing early-onset distal myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Laing early-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Laing early-onset distal myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Laing early-onset distal myopathy' SubClassOf 'disease' + 'Laing early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Laing early-onset distal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Laing early-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397715 Label: Joubert syndrome with Jeune asphyxiating thoracic dystrophy - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'malformation syndrome' - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363478 Label: Paratesticular adenocarcinoma - 'Paratesticular adenocarcinoma' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Paratesticular adenocarcinoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paratesticular adenocarcinoma' SubClassOf 'disease' + 'Paratesticular adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Paratesticular adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paratesticular adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' + 'Paratesticular adenocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183487 Label: Genetic skin tumor - 'Genetic skin tumor' SubClassOf 'group of disorders' + 'Genetic skin tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_248111 Label: Juvenile Huntington disease - 'Juvenile Huntington disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' - 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Juvenile Huntington disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Juvenile Huntington disease' SubClassOf 'disease' + 'Juvenile Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' + 'Juvenile Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Juvenile Huntington disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile Huntington disease' SubClassOf 'disease' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_183481 Label: Genetic mixed dermis disorder - 'Genetic mixed dermis disorder' SubClassOf 'group of disorders' + 'Genetic mixed dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363472 Label: Testicular and paratesticular tumor - 'Testicular and paratesticular tumor' SubClassOf 'group of disorders' + 'Testicular and paratesticular tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C030 value "87.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular and paratesticular tumor' SubClassOf 'group of disorders' + 'Testicular and paratesticular tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119148 Label: calcium channel, voltage-dependent, L type, alpha 1F subunit - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some '�land Islands eye disease' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some '�land Islands eye disease' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_122080 Label: growth factor independent 1 transcription repressor - 'growth factor independent 1 transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' - 'growth factor independent 1 transcription repressor' SubClassOf 'gene' + 'growth factor independent 1 transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22"^^http://www.w3.org/2001/XMLSchema#string + 'growth factor independent 1 transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' + 'growth factor independent 1 transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_179408 Label: netrin G1 - 'netrin G1' SubClassOf 'gene' - 'netrin G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'netrin G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2-p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'netrin G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'netrin G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183484 Label: Genetic subcutaneous tissue disorder - 'Genetic subcutaneous tissue disorder' SubClassOf 'group of disorders' + 'Genetic subcutaneous tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281616 Label: nudE neurodevelopment protein 1 - 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydranencephaly' - 'nudE neurodevelopment protein 1' SubClassOf 'gene' - 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microlissencephaly' + 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydranencephaly' + 'nudE neurodevelopment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string + 'nudE neurodevelopment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microlissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_209038 Label: Qualitative or quantitative defects of myofibrillar proteins - 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75382 Label: Oguchi disease - 'Oguchi disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oguchi disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Oguchi disease' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oguchi disease' SubClassOf 'malformation syndrome' + 'Oguchi disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oguchi disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oguchi disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363417 Label: Temtamy preaxial brachydactyly syndrome - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'malformation syndrome' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'malformation syndrome' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2149 Label: Nodular neuronal heterotopia - 'Nodular neuronal heterotopia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nodular neuronal heterotopia' SubClassOf 'has_prevalence' some 'Unknown' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nodular neuronal heterotopia' SubClassOf 'morphological anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Nodular neuronal heterotopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Nodular neuronal heterotopia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2148 Label: Lissencephaly type 1 due to doublecortin gene mutation - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'disease' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'disease' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_75381 Label: Cystoid macular dystrophy - 'Cystoid macular dystrophy' SubClassOf 'disease' - 'Cystoid macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cystoid macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cystoid macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cystoid macular dystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Cystoid macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Cystoid macular dystrophy' SubClassOf 'disease' + 'Cystoid macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cystoid macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cystoid macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_397735 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_183447 Label: Genetic epidermal appendage anomaly - 'Genetic epidermal appendage anomaly' SubClassOf 'group of disorders' + 'Genetic epidermal appendage anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2145 Label: Craniosynostosis, Herrmann-Opitz type - 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'malformation syndrome' - 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Craniosynostosis, Herrmann-Opitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_179401 Label: ADP-ribosylation factor-like 13B - 'ADP-ribosylation factor-like 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'ADP-ribosylation factor-like 13B' SubClassOf 'gene' + 'ADP-ribosylation factor-like 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'ADP-ribosylation factor-like 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q11"^^http://www.w3.org/2001/XMLSchema#string + 'ADP-ribosylation factor-like 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2143 Label: Donnai-Barrow syndrome - 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Donnai-Barrow syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Donnai-Barrow syndrome' SubClassOf 'malformation syndrome' - 'Donnai-Barrow syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Donnai-Barrow syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_42738 Label: Severe congenital neutropenia - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe congenital neutropenia' SubClassOf 'group of disorders' - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe congenital neutropenia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.077"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe congenital neutropenia' SubClassOf 'group of disorders' + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2141 Label: Diaphragmatic defect - limb deficiency - skull defect - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'malformation syndrome' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'malformation syndrome' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2140 Label: Congenital diaphragmatic hernia - 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenital diaphragmatic hernia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Congenital diaphragmatic hernia' SubClassOf 'morphological anomaly' - 'Congenital diaphragmatic hernia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or thoracic malformation' + 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 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(http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'morphological anomaly' + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or thoracic malformation' + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75389 Label: Brain malformation - congenital heart disease - postaxial polydactyly - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261102 Label: Distal 7q11.23 microduplication syndrome - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 7' - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal 7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_119113 Label: M-phase specific PLK1 interacting protein - 'M-phase specific PLK1 interacting protein' SubClassOf 'gene' - 'M-phase specific PLK1 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'M-phase specific PLK1 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string + 'M-phase specific PLK1 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'M-phase specific PLK1 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_183450 Label: Genetic hair anomaly - 'Genetic hair anomaly' SubClassOf 'group of disorders' + 'Genetic hair anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119117 Label: carbonic anhydrase II - 'carbonic anhydrase II' SubClassOf 'gene' - 'carbonic anhydrase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis with renal tubular acidosis' + 'carbonic anhydrase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'carbonic anhydrase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbonic anhydrase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis with renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_183454 Label: Genetic nail anomaly - 'Genetic nail anomaly' SubClassOf 'group of disorders' + 'Genetic nail anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397725 Label: COASY protein-associated neurodegeneration - 'COASY protein-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'COASY protein-associated neurodegeneration' SubClassOf 'disease' + 'COASY protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'COASY protein-associated neurodegeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363424 Label: Hypotonia-cerebral atrophy-hyperglycinemia syndrome - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'disease' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'disease' + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_209030 Label: Qualitative or quantitative defects of protein O-mannosyltransferase 1 - 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209033 Label: Qualitative or quantitative defects of protein O-mannosyltransferase 2 - 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209027 Label: Qualitative or quantitative defects of protein glycosyltransferase-like - 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2139 Label: Hern�ndez-Aguirre Negrete syndrome - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'malformation syndrome' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'malformation syndrome' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_363409 Label: Fetal akinesia-cerebral and retinal hemorrhage syndrome - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'disease' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'part_of' some 'Congenital myopathy' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'disease' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2136 Label: Hennekam syndrome - 'Hennekam syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hennekam syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hennekam syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hennekam syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hennekam syndrome' SubClassOf 'malformation syndrome' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hennekam syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Hennekam syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hennekam syndrome' SubClassOf 'malformation syndrome' + 'Hennekam syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2135 Label: Hennekam-Beemer syndrome - 'Hennekam-Beemer syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hennekam-Beemer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hennekam-Beemer syndrome' SubClassOf 'malformation syndrome' - 'Hennekam-Beemer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hennekam-Beemer syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Hennekam-Beemer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hennekam-Beemer syndrome' SubClassOf 'malformation syndrome' + 'Hennekam-Beemer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hennekam-Beemer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2138 Label: 46,XX ovotesticular disorder of sex development - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some '46,XX disorder of gonadal development' - '46,XX ovotesticular disorder of sex development' SubClassOf 'malformation syndrome' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some 'sporadic' + '46,XX ovotesticular disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + '46,XX ovotesticular disorder of sex development' SubClassOf 'malformation syndrome' + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of gonadal development' + '46,XX ovotesticular disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_397744 Label: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'disease' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2137 Label: Chronic autoimmune hepatitis - 'Chronic autoimmune hepatitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic autoimmune hepatitis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Chronic autoimmune hepatitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic autoimmune hepatitis' SubClassOf 'disease' - 'Chronic autoimmune hepatitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf 'disease' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic autoimmune hepatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75373 Label: Progressive bifocal chorioretinal atrophy - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'disease' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Progressive bifocal chorioretinal atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'disease' + 'Progressive bifocal chorioretinal atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159367 Label: sprouty-related, EVH1 domain containing 1 - 'sprouty-related, EVH1 domain containing 1' SubClassOf 'gene' - 'sprouty-related, EVH1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legius syndrome' + 'sprouty-related, EVH1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sprouty-related, EVH1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'sprouty-related, EVH1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legius syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2132 Label: Hemoglobin C disease - 'Hemoglobin C disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hemoglobin C disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin C disease' SubClassOf 'disease' - 'Hemoglobin C disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Hemoglobin C disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin C disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "166.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin C disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26137 Label: Juvenile temporal arteritis - 'Juvenile temporal arteritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile temporal arteritis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile temporal arteritis' SubClassOf 'disease' - 'Juvenile temporal arteritis' SubClassOf 'part_of' some 'Rare vascular disease' + 'Juvenile temporal arteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile temporal arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile temporal arteritis' SubClassOf 'disease' + 'Juvenile temporal arteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_75374 Label: Bradyopsia - 'Bradyopsia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bradyopsia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Bradyopsia' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Bradyopsia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bradyopsia' SubClassOf 'disease' + 'Bradyopsia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bradyopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bradyopsia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bradyopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Bradyopsia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2131 Label: Alternating hemiplegia of childhood - 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alternating hemiplegia of childhood' SubClassOf 'has_prevalence' some 'Unknown' - 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some 'sporadic' - 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alternating hemiplegia of childhood' SubClassOf 'disease' - 'Alternating hemiplegia of childhood' SubClassOf 'part_of' some 'Alternating hemiplegia' + 'Alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alternating hemiplegia' + 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Alternating hemiplegia of childhood' SubClassOf 'disease' + 'Alternating hemiplegia of childhood' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2134 Label: Atypical hemolytic-uremic syndrome - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'disease' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Atypical hemolytic-uremic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'disease' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Atypical hemolytic-uremic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_75376 Label: Familial drusen - 'Familial drusen' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial drusen' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial drusen' SubClassOf 'part_of' some 'Disease predisposing to age-related macular degeneration' - 'Familial drusen' SubClassOf 'part_of' some 'Familial flecked retinopathy' - 'Familial drusen' SubClassOf 'disease' - 'Familial drusen' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Familial drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease predisposing to age-related macular degeneration' + 'Familial drusen' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial drusen' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' + 'Familial drusen' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2133 Label: Hemoglobin E disease - 'Hemoglobin E disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin E disease' SubClassOf 'disease' - 'Hemoglobin E disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin E disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hemoglobin E disease' SubClassOf 'disease' + 'Hemoglobin E disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_75377 Label: Central areolar choroidal dystrophy - 'Central areolar choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Central areolar choroidal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Central areolar choroidal dystrophy' SubClassOf 'disease' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Central areolar choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Central areolar choroidal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Central areolar choroidal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Central areolar choroidal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_261112 Label: Monosomy 9p - 'Monosomy 9p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 9' - 'Monosomy 9p' SubClassOf 'malformation syndrome' + 'Monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 9' + 'Monosomy 9p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75378 Label: Oligocone trichromacy - 'Oligocone trichromacy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oligocone trichromacy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oligocone trichromacy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oligocone trichromacy' SubClassOf 'disease' - 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Oligocone trichromacy' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Oligocone trichromacy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oligocone trichromacy' SubClassOf 'disease' + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Oligocone trichromacy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oligocone trichromacy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Oligocone trichromacy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119122 Label: carbonic anhydrase IV - 'carbonic anhydrase IV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'carbonic anhydrase IV' SubClassOf 'gene' + 'carbonic anhydrase IV' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'carbonic anhydrase IV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'carbonic anhydrase IV' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2130 Label: Hemimelia - 'Hemimelia' SubClassOf 'group of disorders' + 'Hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemimelia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159362 Label: visual system homeobox 2 - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'visual system homeobox 2' SubClassOf 'gene' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'visual system homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'visual system homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159360 Label: potassium channel, subfamily V, member 2 - 'potassium channel, subfamily V, member 2' SubClassOf 'gene' - 'potassium channel, subfamily V, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone dystrophy with supernormal rod response' + 'potassium channel, subfamily V, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily V, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel, subfamily V, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone dystrophy with supernormal rod response' Class: http://www.orpha.net/ORDO/Orphanet_183460 Label: Genetic sebaceous gland anomaly - 'Genetic sebaceous gland anomaly' SubClassOf 'group of disorders' + 'Genetic sebaceous gland anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_406000 Label: SRY (sex determining region Y)-box 11 - 'SRY (sex determining region Y)-box 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' - 'SRY (sex determining region Y)-box 11' SubClassOf 'gene' + 'SRY (sex determining region Y)-box 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SRY (sex determining region Y)-box 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119129 Label: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign paroxysmal torticollis of infancy' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial paroxysmal ataxia' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 6' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign paroxysmal torticollis of infancy' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 6' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial paroxysmal ataxia' Class: http://www.orpha.net/ORDO/Orphanet_183463 Label: Genetic pigmentation anomaly of the skin - 'Genetic pigmentation anomaly of the skin' SubClassOf 'group of disorders' + 'Genetic pigmentation anomaly of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183466 Label: Genetic hyperpigmentation of the skin - 'Genetic hyperpigmentation of the skin' SubClassOf 'group of disorders' + 'Genetic hyperpigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119127 Label: calcium binding protein 4 - 'calcium binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'calcium binding protein 4' SubClassOf 'gene' + 'calcium binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'calcium binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363412 Label: Hypomyelination with brain stem and spinal cord involvement and leg spasticity - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'disease' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'disease' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209024 Label: Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397755 Label: Periodic paralysis with transient compartment-like syndrome - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Periodic paralysis' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'disease' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'disease' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_2126 Label: Solitary fibrous tumor - 'Solitary fibrous tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Solitary fibrous tumor' SubClassOf 'disease' - 'Solitary fibrous tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Solitary fibrous tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Solitary fibrous tumor' SubClassOf 'disease' + 'Solitary fibrous tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Solitary fibrous tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_209019 Label: Solid tumor associated with an acquired peripheral neuropathy - 'Solid tumor associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Solid tumor associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159339 Label: cation channel, sperm associated 2 - 'cation channel, sperm associated 2' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' - 'cation channel, sperm associated 2' SubClassOf 'gene' + 'cation channel, sperm associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cation channel, sperm associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.3"^^http://www.w3.org/2001/XMLSchema#string + 'cation channel, sperm associated 2' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2124 Label: Cavernous hemangiomas of face - supraumbilical midline raphe - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'part_of' some 'Vascular tumor' - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'malformation syndrome' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'malformation syndrome' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_397750 Label: Periodic paralysis with later-onset distal motor neuropathy - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Periodic paralysis' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'disease' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'disease' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_59181 Label: Sorsby's fundus dystrophy - 'Sorsby's fundus dystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Sorsby's fundus dystrophy' SubClassOf 'disease' - 'Sorsby's fundus dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Sorsby's fundus dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sorsby's fundus dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Sorsby's fundus dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sorsby's fundus dystrophy' SubClassOf 'disease' + 'Sorsby's fundus dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sorsby's fundus dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_209016 Label: Hematological disease associated with an acquired peripheral neuropathy - 'Hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2128 Label: Hemihypertrophy - 'Hemihypertrophy' SubClassOf 'morphological anomaly' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Macroglossia' + 'Hemihypertrophy' SubClassOf 'morphological anomaly' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_406016 Label: DNA (cytosine-5-)-methyltransferase 3 alpha - 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'gene' - 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature-intellectual disability-facial dysmorphism syndrome' + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature-intellectual disability-facial dysmorphism syndrome' + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320192 Label: cytochrome P450, family 26, subfamily C, polypeptide 1 - 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type IV' + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Focal facial dermal dysplasia type IV' + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2123 Label: Diffuse neonatal hemangiomatosis - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'part_of' some 'Vascular tumor' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'malformation syndrome' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse neonatal hemangiomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse neonatal hemangiomatosis' SubClassOf 'malformation syndrome' + 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse neonatal hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_320199 Label: La ribonucleoprotein domain family, member 7 - 'La ribonucleoprotein domain family, member 7' SubClassOf 'gene' - 'La ribonucleoprotein domain family, member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Alazami type' + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Microcephalic primordial dwarfism, Alazami type' + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159333 Label: lipase, member H - 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' - 'lipase, member H' SubClassOf 'gene' + 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'lipase, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183426 Label: Genetic epidermal disorder - 'Genetic epidermal disorder' SubClassOf 'group of disorders' + 'Genetic epidermal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2122 Label: Kaposiform hemangioendothelioma - 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Kaposiform hemangioendothelioma' SubClassOf 'disease' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Kaposiform hemangioendothelioma' SubClassOf 'disease' + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Kaposiform hemangioendothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kaposiform hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_200418 Label: Immunodeficiency with factor I anomaly - 'Immunodeficiency with factor I anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency with factor I anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency with factor I anomaly' SubClassOf 'disease' - 'Immunodeficiency with factor I anomaly' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor I anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency with factor I anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor I anomaly' SubClassOf 'disease' + 'Immunodeficiency with factor I anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_199900 Label: kin of IRRE like 3 (Drosophila) - 'kin of IRRE like 3 (Drosophila)' SubClassOf 'gene' - 'kin of IRRE like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'kin of IRRE like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'kin of IRRE like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'kin of IRRE like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406010 Label: activity-dependent neuroprotector homeobox - 'activity-dependent neuroprotector homeobox' SubClassOf 'gene' - 'activity-dependent neuroprotector homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' + 'activity-dependent neuroprotector homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'activity-dependent neuroprotector homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' + 'activity-dependent neuroprotector homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363440 Label: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_200421 Label: Immunodeficiency with factor H anomaly - 'Immunodeficiency with factor H anomaly' SubClassOf 'disease' - 'Immunodeficiency with factor H anomaly' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor H anomaly' SubClassOf 'disease' + 'Immunodeficiency with factor H anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_315800 Label: HEAT repeat containing 2 - 'HEAT repeat containing 2' SubClassOf 'gene' - 'HEAT repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'HEAT repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'HEAT repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'HEAT repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_30391 Label: Biliary atresia - 'Biliary atresia' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Biliary atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Biliary atresia' SubClassOf 'morphological anomaly' - 'Biliary atresia' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Biliary atresia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Biliary atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Biliary atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf 'morphological anomaly' + 'Biliary atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410068) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_209013 Label: Acquired amyloid peripheral neuropathy - 'Acquired amyloid peripheral neuropathy' SubClassOf 'group of disorders' + 'Acquired amyloid peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363444 Label: Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'disease' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'disease' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209010 Label: Peripheral neuropathy associated with monoclonal gammopathy - 'Peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'group of disorders' + 'Peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363447 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'disease' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'disease' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_2114 Label: Hip dysplasia, Beukes type - 'Hip dysplasia, Beukes type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hip dysplasia, Beukes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hip dysplasia, Beukes type' SubClassOf 'disease' - 'Hip dysplasia, Beukes type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hip dysplasia, Beukes type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Hip dysplasia, Beukes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hip dysplasia, Beukes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hip dysplasia, Beukes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hip dysplasia, Beukes type' SubClassOf 'disease' + 'Hip dysplasia, Beukes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_363429 Label: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2116 Label: Hartnup disease - 'Hartnup disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hartnup disease' SubClassOf 'part_of' some 'Disorder of neutral amino acid transport' - 'Hartnup disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hartnup disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Hartnup disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hartnup disease' SubClassOf 'disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Rare photodermatosis' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neutral amino acid transport' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Hartnup disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hartnup disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2115 Label: Harrod syndrome - 'Harrod syndrome' SubClassOf 'malformation syndrome' - 'Harrod syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Harrod syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Harrod syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Harrod syndrome' SubClassOf 'malformation syndrome' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_209004 Label: Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy - 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'disease' + 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2118 Label: Hawkinsinuria - 'Hawkinsinuria' SubClassOf 'disease' - 'Hawkinsinuria' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Hawkinsinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hawkinsinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hawkinsinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hawkinsinuria' SubClassOf 'disease' + 'Hawkinsinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hawkinsinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_2117 Label: Hartsfield-Bixler-Demyer syndrome - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'malformation syndrome' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'malformation syndrome' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_209007 Label: Systemic inflammatory disease associated with an acquired peripheral neuropathy - 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2119 Label: HEC syndrome - 'HEC syndrome' SubClassOf 'part_of' some 'Restrictive cardiomyopathy' - 'HEC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'HEC syndrome' SubClassOf 'part_of' some 'Dilated cardiomyopathy' - 'HEC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'HEC syndrome' SubClassOf 'malformation syndrome' + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dilated cardiomyopathy' + 'HEC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'HEC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HEC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Restrictive cardiomyopathy' + 'HEC syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159341 Label: tau tubulin kinase 2 - 'tau tubulin kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 11' - 'tau tubulin kinase 2' SubClassOf 'gene' + 'tau tubulin kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 11' + 'tau tubulin kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tau tubulin kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183438 Label: Genetic erythrokeratoderma - 'Genetic erythrokeratoderma' SubClassOf 'group of disorders' + 'Genetic erythrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159345 Label: cholinergic receptor, nicotinic, alpha 2 (neuronal) - 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' - 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2110 Label: Hallux varus - preaxial polysyndactyly - 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' - 'Hallux varus - preaxial polysyndactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' + 'Hallux varus - preaxial polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_183435 Label: Inherited ichthyosis - 'Inherited ichthyosis' SubClassOf 'group of disorders' + 'Inherited ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited ichthyosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_109011 Label: Non-syndromic limb malformation - 'Non-syndromic limb malformation' SubClassOf 'group of disorders' + 'Non-syndromic limb malformation' SubClassOf 'group of disorders' + 'Non-syndromic limb malformation' SubClassOf 'Genetic congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_183441 Label: Genetic acrokeratoderma - 'Genetic acrokeratoderma' SubClassOf 'group of disorders' + 'Genetic acrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119106 Label: complement component 2 - 'complement component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 2' SubClassOf 'gene' + 'complement component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183444 Label: Genetic porokeratosis - 'Genetic porokeratosis' SubClassOf 'group of disorders' + 'Genetic porokeratosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119101 Label: BUB1 mitotic checkpoint serine/threonine kinase B - 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'gene' - 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15"^^http://www.w3.org/2001/XMLSchema#string + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363432 Label: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'clinical subtype' + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_95409 Label: Acute adrenal insufficiency - 'Acute adrenal insufficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acute adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute adrenal insufficiency' SubClassOf 'part_of' some 'Primary adrenal insufficiency' - 'Acute adrenal insufficiency' SubClassOf 'clinical syndrome' + 'Acute adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Acute adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary adrenal insufficiency' + 'Acute adrenal insufficiency' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397758 Label: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'disease' - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'disease' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_64720 Label: Leiomyosarcoma - 'Leiomyosarcoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated mesenchymal tumor' - 'Leiomyosarcoma' SubClassOf 'disease' - 'Leiomyosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Leiomyosarcoma' SubClassOf 'disease' + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_117957 Label: POU class 4 homeobox 3 - 'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'POU class 4 homeobox 3' SubClassOf 'gene' + 'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'POU class 4 homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 4 homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_109009 Label: Syndrome with limb malformations as a major feature - 'Syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' + 'Syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_109007 Label: Arthrogryposis syndrome - 'Arthrogryposis syndrome' SubClassOf 'group of disorders' + 'Arthrogryposis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95434 Label: Autosomal recessive cerebellar ataxia - saccadic intrusion - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_117952 Label: POU class 3 homeobox 4 - 'POU class 3 homeobox 4' SubClassOf 'Role in the phenotype of' some 'Developmental delay - deafness, Hildebrand type' - 'POU class 3 homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mixed deafness with perilymphatic gusher' - 'POU class 3 homeobox 4' SubClassOf 'gene' + 'POU class 3 homeobox 4' SubClassOf 'Role in the phenotype of' some 'Developmental delay - deafness, Hildebrand type' + 'POU class 3 homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mixed deafness with perilymphatic gusher' + 'POU class 3 homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POU class 3 homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95443 Label: Mesocardia - 'Mesocardia' SubClassOf 'part_of' some 'Heart position anomaly' - 'Mesocardia' SubClassOf 'morphological anomaly' + 'Mesocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart position anomaly' + 'Mesocardia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_404514 Label: Acquired kidney disease-associated renal cell carcinoma - 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_178315 Label: Undifferentiated embryonal sarcoma of the liver - 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'part_of' some 'Rare hepatic tumor' - 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_123243 Label: microphthalmia-associated transcription factor - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Clear cell renal carcinoma' - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' - 'microphthalmia-associated transcription factor' SubClassOf 'gene' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Papillary renal cell carcinoma' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tietz syndrome' + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' + 'microphthalmia-associated transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.1-p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Papillary renal cell carcinoma' + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tietz syndrome' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Clear cell papillary renal cell carcinoma' + 'microphthalmia-associated transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_404511 Label: Clear cell papillary renal cell carcinoma - 'Clear cell papillary renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell papillary renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_123245 Label: McKusick-Kaufman syndrome (Gen) - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'gene' - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'McKusick-Kaufman syndrome' + 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'McKusick-Kaufman syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'McKusick-Kaufman syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string + 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'McKusick-Kaufman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_37042 Label: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'disease' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe immune-mediated enteropathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'disease' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117969 Label: protoporphyrinogen oxidase - 'protoporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' - 'protoporphyrinogen oxidase' SubClassOf 'gene' + 'protoporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protoporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'protoporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' Class: http://www.orpha.net/ORDO/Orphanet_95427 Label: Secondary short bowel syndrome - 'Secondary short bowel syndrome' SubClassOf 'part_of' some 'Short bowel syndrome' - 'Secondary short bowel syndrome' SubClassOf 'disease' + 'Secondary short bowel syndrome' SubClassOf 'disease' + 'Secondary short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short bowel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95428 Label: COG8-CDG - 'COG8-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COG8-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' - 'COG8-CDG' SubClassOf 'disease' - 'COG8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'COG8-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG8-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'COG8-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG8-CDG' SubClassOf 'disease' + 'COG8-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG8-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COG8-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_95429 Label: Angioma serpiginosum - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Skin vascular disease' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'sporadic' - 'Angioma serpiginosum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Angioma serpiginosum' SubClassOf 'disease' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Angioma serpiginosum' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Vascular tumor' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Angioma serpiginosum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Angioma serpiginosum' SubClassOf 'disease' + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Angioma serpiginosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117964 Label: peroxisome proliferator-activated receptor gamma - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PPARG mutations' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'gene' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PPARG mutations' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'peroxisome proliferator-activated receptor gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisome proliferator-activated receptor gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117961 Label: POU class 6 homeobox 2 - 'POU class 6 homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' - 'POU class 6 homeobox 2' SubClassOf 'gene' + 'POU class 6 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 6 homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' + 'POU class 6 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95431 Label: Twin to twin transfusion syndrome - 'Twin to twin transfusion syndrome' SubClassOf 'part_of' some 'Rare hematologic disease' - 'Twin to twin transfusion syndrome' SubClassOf 'disease' - 'Twin to twin transfusion syndrome' SubClassOf 'part_of' some 'Rare immune disease' + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hematologic disease' + 'Twin to twin transfusion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95430 Label: Congenital tracheomalacia - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Tracheal anomaly' - 'Congenital tracheomalacia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital tracheomalacia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital tracheomalacia' SubClassOf 'morphological anomaly' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Congenital tracheomalacia' SubClassOf 'morphological anomaly' + 'Congenital tracheomalacia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_178303 Label: 8q22.1 microdeletion syndrome - '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - '8q22.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q22.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8q22.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q22.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_95433 Label: Autosomal recessive cerebellar ataxia - blindness - deafness - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_404521 Label: Spinal muscular atrophy with respiratory distress type 2 - 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'disease' - 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy' + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'disease' + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_95432 Label: Primary progressive aphasia - 'Primary progressive aphasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Primary progressive aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary progressive aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary progressive aphasia' SubClassOf 'group of disorders' + 'Primary progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Primary progressive aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary progressive aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary progressive aphasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178307 Label: Reticulate acropigmentation of Kitamura - 'Reticulate acropigmentation of Kitamura' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'disease' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Reticulate acropigmentation of Kitamura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'disease' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123238 Label: major intrinsic protein of lens fiber - 'major intrinsic protein of lens fiber' SubClassOf 'gene' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'major intrinsic protein of lens fiber' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'major intrinsic protein of lens fiber' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_64722 Label: Granulomatous mastitis - 'Granulomatous mastitis' SubClassOf 'part_of' some 'Rare non-malformative breast disease' - 'Granulomatous mastitis' SubClassOf 'disease' + 'Granulomatous mastitis' SubClassOf 'disease' + 'Granulomatous mastitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative breast disease' Class: http://www.orpha.net/ORDO/Orphanet_89043 Label: Rare dementia - 'Rare dementia' SubClassOf 'group of disorders' + 'Rare dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252206 Label: Melanoma and neural system tumor syndrome - 'Melanoma and neural system tumor syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Melanoma and neural system tumor syndrome' SubClassOf 'disease' + 'Melanoma and neural system tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Melanoma and neural system tumor syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117978 Label: palmitoyl-protein thioesterase 1 - 'palmitoyl-protein thioesterase 1' SubClassOf 'gene' - 'palmitoyl-protein thioesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN1 disease' + 'palmitoyl-protein thioesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN1 disease' + 'palmitoyl-protein thioesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'palmitoyl-protein thioesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95458 Label: Tricuspid valve prolapse - 'Tricuspid valve prolapse' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Tricuspid valve prolapse' SubClassOf 'morphological anomaly' + 'Tricuspid valve prolapse' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Tricuspid valve prolapse' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95459 Label: Congenital tricuspid stenosis - 'Congenital tricuspid stenosis' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Congenital tricuspid stenosis' SubClassOf 'morphological anomaly' + 'Congenital tricuspid stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Congenital tricuspid stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_117973 Label: protein phosphatase 2, regulatory subunit B, beta - 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'gene' - 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 12' + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 12' + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95457 Label: Tricuspid valve agenesis - 'Tricuspid valve agenesis' SubClassOf 'morphological anomaly' - 'Tricuspid valve agenesis' SubClassOf 'part_of' some 'Congenital tricuspid malformation' + 'Tricuspid valve agenesis' SubClassOf 'morphological anomaly' + 'Tricuspid valve agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_95462 Label: Accessory tricuspid valve tissue - 'Accessory tricuspid valve tissue' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Accessory tricuspid valve tissue' SubClassOf 'morphological anomaly' + 'Accessory tricuspid valve tissue' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Accessory tricuspid valve tissue' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_394081 Label: lipoyltransferase 1 - 'lipoyltransferase 1' SubClassOf 'gene' - 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoyl transferase 1 deficiency' - 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'lipoyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoyl transferase 1 deficiency' + 'lipoyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123263 Label: mutL homolog 1 - 'mutL homolog 1' SubClassOf 'gene' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'mutL homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutL homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251287 Label: Benign concentric annular macular dystrophy - 'Benign concentric annular macular dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Benign concentric annular macular dystrophy' SubClassOf 'disease' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Benign concentric annular macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Benign concentric annular macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign concentric annular macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Benign concentric annular macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign concentric annular macular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95461 Label: Straddling or overriding tricuspid valve - 'Straddling or overriding tricuspid valve' SubClassOf 'morphological anomaly' - 'Straddling or overriding tricuspid valve' SubClassOf 'part_of' some 'Congenital tricuspid malformation' + 'Straddling or overriding tricuspid valve' SubClassOf 'morphological anomaly' + 'Straddling or overriding tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_95465 Label: Cleft mitral valve - 'Cleft mitral valve' SubClassOf 'morphological anomaly' - 'Cleft mitral valve' SubClassOf 'part_of' some 'Congenital mitral malformation' + 'Cleft mitral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral malformation' + 'Cleft mitral valve' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95464 Label: Congenital mitral valve insufficiency and/or stenosis - 'Congenital mitral valve insufficiency and/or stenosis' SubClassOf 'group of disorders' + 'Congenital mitral valve insufficiency and/or stenosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95463 Label: Anomaly of the tricuspid subvalvular apparatus - 'Anomaly of the tricuspid subvalvular apparatus' SubClassOf 'group of disorders' + 'Anomaly of the tricuspid subvalvular apparatus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252212 Label: Malignant triton tumor - 'Malignant triton tumor' SubClassOf 'part_of' some 'Malignant peripheral nerve sheath tumor' - 'Malignant triton tumor' SubClassOf 'clinical subtype' + 'Malignant triton tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant peripheral nerve sheath tumor' + 'Malignant triton tumor' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_408636 Label: solute carrier family 26 (anion exchanger), member 8 - 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' - 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'gene' + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123269 Label: mutL homolog 3 - 'mutL homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutL homolog 3' SubClassOf 'gene' + 'mutL homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutL homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutL homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212927 Label: fat mass and obesity associated - 'fat mass and obesity associated' SubClassOf 'gene' - 'fat mass and obesity associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal polymalformative syndrome, Boissel type' + 'fat mass and obesity associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fat mass and obesity associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal polymalformative syndrome, Boissel type' + 'fat mass and obesity associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251282 Label: Autosomal dominant spastic ataxia type 1 - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'part_of' some 'Autosomal dominant spastic ataxia' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'disease' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant spastic ataxia' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'disease' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_408642 Label: septin 12 - 'septin 12' SubClassOf 'gene' - 'septin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'septin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'septin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'septin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_179490 Label: Obesity due to congenital leptin resistance - 'Obesity due to congenital leptin resistance' SubClassOf 'group of disorders' + 'Obesity due to congenital leptin resistance' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117989 Label: papillary renal cell carcinoma (translocation-associated) - 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'gene' + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_117983 Label: polyglutamine binding protein 1 - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Sutherland-Haan type' - 'polyglutamine binding protein 1' SubClassOf 'gene' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hamel cerebro-palato-cardiac syndrome' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Golabi-Ito-Hall type' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Porteous type' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Sutherland-Haan type' + 'polyglutamine binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polyglutamine binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hamel cerebro-palato-cardiac syndrome' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Golabi-Ito-Hall type' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Porteous type' Class: http://www.orpha.net/ORDO/Orphanet_95448 Label: Aortic valve atresia - 'Aortic valve atresia' SubClassOf 'clinical subtype' - 'Aortic valve atresia' SubClassOf 'part_of' some 'Congenital aortic valve stenosis' + 'Aortic valve atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital aortic valve stenosis' + 'Aortic valve atresia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_95449 Label: Congenital aortic valve insufficiency - 'Congenital aortic valve insufficiency' SubClassOf 'part_of' some 'Aortic malformation' - 'Congenital aortic valve insufficiency' SubClassOf 'disease' + 'Congenital aortic valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Congenital aortic valve insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123253 Label: Meckel syndrome, type 1 - 'Meckel syndrome, type 1' SubClassOf 'gene' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Meckel syndrome, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' + 'Meckel syndrome, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q24"^^http://www.w3.org/2001/XMLSchema#string + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95455 Label: Toxic epidermal necrolysis - 'Toxic epidermal necrolysis' SubClassOf 'disease' - 'Toxic epidermal necrolysis' SubClassOf 'has_inheritance' some 'sporadic' - 'Toxic epidermal necrolysis' SubClassOf 'part_of' some 'Toxic dermatosis' - 'Toxic epidermal necrolysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Toxic epidermal necrolysis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Toxic epidermal necrolysis' SubClassOf 'disease' + 'Toxic epidermal necrolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.189"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic epidermal necrolysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75392 Label: Ehlers-Danlos syndrome, periodontitis type - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_prevalence' some 'Unknown' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251290 Label: Parietal foramina with cleidocranial dysplasia - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'malformation syndrome' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75391 Label: Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'disease' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'Primary immunodeficiency due to a defect in innate immunity' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary immunodeficiency due to a defect in innate immunity' + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404507 Label: Chondromyxoid fibroma - 'Chondromyxoid fibroma' SubClassOf 'disease' - 'Chondromyxoid fibroma' SubClassOf 'part_of' some 'Rare bone tumor' + 'Chondromyxoid fibroma' SubClassOf 'disease' + 'Chondromyxoid fibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_179494 Label: Obesity due to leptin receptor gene deficiency - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'part_of' some 'Obesity due to congenital leptin resistance' - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'disease' - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Obesity due to leptin receptor gene deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Obesity due to congenital leptin resistance' + 'Obesity due to leptin receptor gene deficiency' SubClassOf 'disease' + 'Obesity due to leptin receptor gene deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_123257 Label: megalencephalic leukoencephalopathy with subcortical cysts 1 - 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'gene' - 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251295 Label: Pigmented paravenous retinochoroidal atrophy - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'disease' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117992 Label: progressive rod-cone degeneration - 'progressive rod-cone degeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'progressive rod-cone degeneration' SubClassOf 'gene' + 'progressive rod-cone degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'progressive rod-cone degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'progressive rod-cone degeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_117995 Label: perforin 1 (pore forming protein) - 'perforin 1 (pore forming protein)' SubClassOf 'gene' - 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' - 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal post-viral neurodegenerative disorder' - 'perforin 1 (pore forming protein)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal post-viral neurodegenerative disorder' + 'perforin 1 (pore forming protein)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_408654 Label: dynein, axonemal, heavy chain 1 - 'dynein, axonemal, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' - 'dynein, axonemal, heavy chain 1' SubClassOf 'gene' + 'dynein, axonemal, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'dynein, axonemal, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21-p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251262 Label: Familial osteochondritis dissecans - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Osteonecrosis of genetic origin' - 'Familial osteochondritis dissecans' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial osteochondritis dissecans' SubClassOf 'disease' - 'Familial osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' - 'Familial osteochondritis dissecans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Osteonecrosis' + 'Familial osteochondritis dissecans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggrecan-related bone disorder' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis' + 'Familial osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial osteochondritis dissecans' SubClassOf 'disease' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_123201 Label: MET proto-oncogene, receptor tyrosine kinase - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'gene' - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary renal cell carcinoma' + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_64755 Label: Becker nevus syndrome - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Becker nevus syndrome' SubClassOf 'disease' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Becker nevus syndrome' SubClassOf 'disease' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_284790 Label: Qualitative or quantitative defects of tropomyosin - 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123207 Label: mitofusin 2 - 'mitofusin 2' SubClassOf 'gene' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 5' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 6' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to MFN2 deficiency' + 'mitofusin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'mitofusin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 5' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 6' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to MFN2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_212909 Label: forkhead box F1 - 'forkhead box F1' SubClassOf 'gene' - 'forkhead box F1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alveolar capillary dysplasia' + 'forkhead box F1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box F1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box F1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alveolar capillary dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_95487 Label: Atypical arterial duct - 'Atypical arterial duct' SubClassOf 'clinical subtype' - 'Atypical arterial duct' SubClassOf 'part_of' some 'Patent arterial duct' + 'Atypical arterial duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patent arterial duct' + 'Atypical arterial duct' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119194 Label: caveolin 3 - 'caveolin 3' SubClassOf 'gene' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1C' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rippling muscle disease' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rippling muscle disease' + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1C' + 'caveolin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caveolin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95488 Label: Non-acquired pituitary hormone deficiency - 'Non-acquired pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Non-acquired pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178355 Label: Smith-McCort dysplasia - 'Smith-McCort dysplasia' SubClassOf 'disease' - 'Smith-McCort dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Smith-McCort dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Smith-McCort dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Smith-McCort dysplasia' SubClassOf 'disease' + 'Smith-McCort dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_95485 Label: Arterial duct anomaly - 'Arterial duct anomaly' SubClassOf 'group of disorders' + 'Arterial duct anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119192 Label: catalase - 'catalase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acatalasemia' - 'catalase' SubClassOf 'gene' + 'catalase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catalase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'catalase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acatalasemia' Class: http://www.orpha.net/ORDO/Orphanet_95486 Label: Premature closure of the arterial duct - 'Premature closure of the arterial duct' SubClassOf 'part_of' some 'Arterial duct anomaly' - 'Premature closure of the arterial duct' SubClassOf 'morphological anomaly' + 'Premature closure of the arterial duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arterial duct anomaly' + 'Premature closure of the arterial duct' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95483 Label: Univentricular cardiopathy - 'Univentricular cardiopathy' SubClassOf 'group of disorders' + 'Univentricular cardiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95484 Label: Aneurysm or dilatation of ascending aorta - 'Aneurysm or dilatation of ascending aorta' SubClassOf 'part_of' some 'Ascending aorta anomaly' - 'Aneurysm or dilatation of ascending aorta' SubClassOf 'morphological anomaly' + 'Aneurysm or dilatation of ascending aorta' SubClassOf 'morphological anomaly' + 'Aneurysm or dilatation of ascending aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' Class: http://www.orpha.net/ORDO/Orphanet_119199 Label: cystathionine-beta-synthase - 'cystathionine-beta-synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical homocystinuria' - 'cystathionine-beta-synthase' SubClassOf 'gene' + 'cystathionine-beta-synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical homocystinuria' + 'cystathionine-beta-synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'cystathionine-beta-synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363494 Label: Testicular non seminomatous germ cell tumor - 'Testicular non seminomatous germ cell tumor' SubClassOf 'part_of' some 'Testicular germ cell tumor' - 'Testicular non seminomatous germ cell tumor' SubClassOf 'disease' + 'Testicular non seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular non seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "33.53"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular non seminomatous germ cell tumor' SubClassOf 'disease' + 'Testicular non seminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_56425 Label: Cold agglutinin disease - 'Cold agglutinin disease' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia, cold type' - 'Cold agglutinin disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cold agglutinin disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cold agglutinin disease' SubClassOf 'disease' - 'Cold agglutinin disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Cold agglutinin disease' SubClassOf 'disease' + 'Cold agglutinin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia, cold type' + 'Cold agglutinin disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Cold agglutinin disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cold agglutinin disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_212921 Label: adaptor-related protein complex 4, mu 1 subunit - 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212917 Label: urocanate hydratase 1 - 'urocanate hydratase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Urocanic aciduria' - 'urocanate hydratase 1' SubClassOf 'gene' + 'urocanate hydratase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'urocanate hydratase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Urocanic aciduria' + 'urocanate hydratase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251270 Label: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'gene' - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' Class: http://www.orpha.net/ORDO/Orphanet_267449 Label: mitochondrially encoded tRNA valine - 'mitochondrially encoded tRNA valine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA valine' SubClassOf 'gene' + 'mitochondrially encoded tRNA valine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA valine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA valine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178342 Label: Inflammatory myofibroblastic tumor - 'Inflammatory myofibroblastic tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Inflammatory myofibroblastic tumor' SubClassOf 'disease' + 'Inflammatory myofibroblastic tumor' SubClassOf 'disease' + 'Inflammatory myofibroblastic tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_95474 Label: Double-orifice mitral valve - 'Double-orifice mitral valve' SubClassOf 'clinical subtype' - 'Double-orifice mitral valve' SubClassOf 'part_of' some 'Cleft mitral valve' + 'Double-orifice mitral valve' SubClassOf 'clinical subtype' + 'Double-orifice mitral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft mitral valve' Class: http://www.orpha.net/ORDO/Orphanet_251279 Label: Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'part_of' some 'Isolated anophthalmia - microphthalmia' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'disease' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anophthalmia - microphthalmia' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'disease' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178345 Label: Aromatase excess syndrome - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle of genetic origin' - 'Aromatase excess syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle' - 'Aromatase excess syndrome' SubClassOf 'disease' - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Precocious puberty' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precocious puberty' + 'Aromatase excess syndrome' SubClassOf 'disease' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle of genetic origin' + 'Aromatase excess syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251274 Label: Familial hyperaldosteronism type III - 'Familial hyperaldosteronism type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial hyperaldosteronism type III' SubClassOf 'disease' - 'Familial hyperaldosteronism type III' SubClassOf 'part_of' some 'Familial hyperaldosteronism' - 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial hyperaldosteronism type III' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial hyperaldosteronism type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type III' SubClassOf 'disease' + 'Familial hyperaldosteronism type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial hyperaldosteronism type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_29072 Label: Hereditary pheochromocytoma-paraganglioma - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Genetic hypertension' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Genetic endocrine tumor' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'disease' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic endocrine tumor' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'disease' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_34592 Label: Immunodeficiency by defective expression of HLA class 1 - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'disease' + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119179 Label: caspase 10, apoptosis-related cysteine peptidase - 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'gene' - 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_29073 Label: Multiple myeloma - 'Multiple myeloma' SubClassOf 'disease' - 'Multiple myeloma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Multiple myeloma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple myeloma' SubClassOf 'part_of' some 'Hematological disease associated with an acquired peripheral neuropathy' - 'Multiple myeloma' SubClassOf 'part_of' some 'Plasma cell tumor' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple myeloma' SubClassOf 'disease' + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disease associated with an acquired peripheral neuropathy' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64741 Label: Pulmonary blastoma - 'Pulmonary blastoma' SubClassOf 'disease' - 'Pulmonary blastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary blastoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Pulmonary blastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pulmonary blastoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Pulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Pulmonary blastoma' SubClassOf 'disease' + 'Pulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_64740 Label: Recurrent acute pancreatitis - 'Recurrent acute pancreatitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Recurrent acute pancreatitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Recurrent acute pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Recurrent acute pancreatitis' SubClassOf 'disease' - 'Recurrent acute pancreatitis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Recurrent acute pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Recurrent acute pancreatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Recurrent acute pancreatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Recurrent acute pancreatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Recurrent acute pancreatitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64743 Label: Hepatoportal sclerosis - 'Hepatoportal sclerosis' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Hepatoportal sclerosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hepatoportal sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatoportal sclerosis' SubClassOf 'disease' + 'Hepatoportal sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' + 'Hepatoportal sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hepatoportal sclerosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64742 Label: Pleuropulmonary blastoma - 'Pleuropulmonary blastoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleuropulmonary blastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pleuropulmonary blastoma' SubClassOf 'disease' - 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pleuropulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Pleuropulmonary blastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pleuropulmonary blastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178330 Label: Heinz body anemia - 'Heinz body anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heinz body anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Heinz body anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Heinz body anemia' SubClassOf 'disease' + 'Heinz body anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heinz body anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heinz body anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Heinz body anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64734 Label: Iridocorneal endothelial syndrome - 'Iridocorneal endothelial syndrome' SubClassOf 'disease' - 'Iridocorneal endothelial syndrome' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Iridocorneal endothelial syndrome' SubClassOf 'part_of' some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Iridocorneal endothelial syndrome' SubClassOf 'disease' + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Iridocorneal endothelial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Iridocorneal endothelial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123227 Label: macrophage migration inhibitory factor (glycosylation-inhibiting factor) - 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' - 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'gene' + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_168943 Label: Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 - 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' SubClassOf 'group of disorders' + 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_179462 Label: coronin, actin binding protein, 1A - 'coronin, actin binding protein, 1A' SubClassOf 'gene' - 'coronin, actin binding protein, 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to CORO1A deficiency' + 'coronin, actin binding protein, 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'coronin, actin binding protein, 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coronin, actin binding protein, 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to CORO1A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_64739 Label: Ovarian hyperstimulation syndrome - 'Ovarian hyperstimulation syndrome' SubClassOf 'part_of' some 'Rare non-malformative uterine adnexal disease' - 'Ovarian hyperstimulation syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Ovarian hyperstimulation syndrome' SubClassOf 'disease' + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative uterine adnexal disease' + 'Ovarian hyperstimulation syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168940 Label: Chronic eosinophilic leukemia - 'Chronic eosinophilic leukemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Chronic eosinophilic leukemia' SubClassOf 'disease' + 'Chronic eosinophilic leukemia' SubClassOf 'disease' + 'Chronic eosinophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_178338 Label: UV-sensitive syndrome - 'UV-sensitive syndrome' SubClassOf 'disease' - 'UV-sensitive syndrome' SubClassOf 'part_of' some 'Rare photodermatosis' - 'UV-sensitive syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'UV-sensitive syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'UV-sensitive syndrome' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'UV-sensitive syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'UV-sensitive syndrome' SubClassOf 'disease' + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'UV-sensitive syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'UV-sensitive syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'UV-sensitive syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_123221 Label: midline 1 - 'midline 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Opitz G/BBB syndrome' - 'midline 1' SubClassOf 'gene' + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked Opitz G/BBB syndrome' + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119172 Label: calpain 3, (p94) - 'calpain 3, (p94)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2A' - 'calpain 3, (p94)' SubClassOf 'gene' + 'calpain 3, (p94)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2A' + 'calpain 3, (p94)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'calpain 3, (p94)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269573 Label: Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178333 Label: �land Islands eye disease - '�land Islands eye disease' SubClassOf 'part_of' some 'Retinal dystrophy' - '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '�land Islands eye disease' SubClassOf 'disease' - '�land Islands eye disease' SubClassOf 'has_inheritance' some 'x linked recessive' - '�land Islands eye disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '�land Islands eye disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '�land Islands eye disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + '�land Islands eye disease' SubClassOf 'disease' + '�land Islands eye disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_269570 Label: Genetic syndrome with a Dandy-Walker malformation as major feature - 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_212902 Label: interleukin 1 receptor antagonist - 'interleukin 1 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sterile multifocal osteomyelitis with periostitis and pustulosis' - 'interleukin 1 receptor antagonist' SubClassOf 'gene' + 'interleukin 1 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sterile multifocal osteomyelitis with periostitis and pustulosis' + 'interleukin 1 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 1 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_34587 Label: Glycogen storage disease due to LAMP-2 deficiency - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Lysosomal glycogen storage disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_64754 Label: Nevus comedonicus syndrome - 'Nevus comedonicus syndrome' SubClassOf 'disease' - 'Nevus comedonicus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Nevus comedonicus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Nevus comedonicus syndrome' SubClassOf 'disease' + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' Class: http://www.orpha.net/ORDO/Orphanet_64753 Label: Spinocerebellar ataxia with axonal neuropathy type 2 - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'disease' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168947 Label: Myeloid neoplasm associated with PDGFRA rearrangement - 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' - 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'disease' + 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64752 Label: Hereditary sensory and autonomic neuropathy type 5 - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'disease' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_64751 Label: Hereditary motor and sensory neuropathy type 5 - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'disease' - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_225404 Label: glycoprotein VI (platelet) - 'glycoprotein VI (platelet)' SubClassOf 'gene' - 'glycoprotein VI (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bleeding diathesis due to glycoprotein VI deficiency' + 'glycoprotein VI (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein VI (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein VI (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bleeding diathesis due to glycoprotein VI deficiency' Class: http://www.orpha.net/ORDO/Orphanet_64746 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_123219 Label: matrix Gla protein - 'matrix Gla protein' SubClassOf 'gene' - 'matrix Gla protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keutel syndrome' + 'matrix Gla protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'matrix Gla protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrix Gla protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keutel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64747 Label: X-linked Charcot-Marie-Tooth disease - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178320 Label: Acute lung injury - 'Acute lung injury' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Acute lung injury' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Acute lung injury' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lung injury' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "65.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lung injury' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64744 Label: Riedel thyroiditis - 'Riedel thyroiditis' SubClassOf 'disease' - 'Riedel thyroiditis' SubClassOf 'part_of' some 'Rare adult hypothyroidism' - 'Riedel thyroiditis' SubClassOf 'has_prevalence' some 'Unknown' + 'Riedel thyroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare adult hypothyroidism' + 'Riedel thyroiditis' SubClassOf 'disease' + 'Riedel thyroiditis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.06"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168956 Label: Hypereosinophilic syndrome - 'Hypereosinophilic syndrome' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Hypereosinophilic syndrome' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Hypereosinophilic syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypereosinophilic syndrome' SubClassOf 'disease' + 'Hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypereosinophilic syndrome' SubClassOf 'disease' + 'Hypereosinophilic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Hypereosinophilic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.027"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_64745 Label: Pruritic urticarial papules and plaques of pregnancy - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'disease' - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'part_of' some 'Rare urticaria' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'disease' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_123216 Label: mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase - 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MGAT2-CDG' - 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'gene' + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MGAT2-CDG' + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21"^^http://www.w3.org/2001/XMLSchema#string + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269567 Label: Genetic syndrome with a cerebellar malformation as major feature - 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168950 Label: Myeloid neoplasm associated with PDGFRB rearrangement - 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'disease' - 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64748 Label: Dejerine-Sottas syndrome - 'Dejerine-Sottas syndrome' SubClassOf 'disease' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dejerine-Sottas syndrome' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dejerine-Sottas syndrome' SubClassOf 'disease' + 'Dejerine-Sottas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_95491 Label: Congenital coronary artery aneurysm - 'Congenital coronary artery aneurysm' SubClassOf 'morphological anomaly' - 'Congenital coronary artery aneurysm' SubClassOf 'part_of' some 'Coronary artery congenital malformation' + 'Congenital coronary artery aneurysm' SubClassOf 'morphological anomaly' + 'Congenital coronary artery aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coronary artery congenital malformation' Class: http://www.orpha.net/ORDO/Orphanet_64749 Label: Charcot-Marie-Tooth disease type 4 - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'group of disorders' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123212 Label: membrane frizzled-related protein - 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nanophthalmia' - 'membrane frizzled-related protein' SubClassOf 'gene' - 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' + 'membrane frizzled-related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nanophthalmia' + 'membrane frizzled-related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' Class: http://www.orpha.net/ORDO/Orphanet_168953 Label: Myeloid neoplasm associated with FGFR1 rearrangement - 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' - 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'disease' + 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119185 Label: calcium-sensing receptor - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bartter syndrome with hypocalcemia' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 1' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' - 'calcium-sensing receptor' SubClassOf 'gene' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypocalcemia' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal severe primary hyperparathyroidism' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Bartter syndrome with hypocalcemia' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial hypocalciuric hypercalcemia type 1' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autosomal dominant hypocalcemia' + 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neonatal severe primary hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_179459 Label: bone morphogenetic protein 2 - 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' - 'bone morphogenetic protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'bone morphogenetic protein 2' SubClassOf 'gene' + 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' + 'bone morphogenetic protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' + 'bone morphogenetic protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95493 Label: Abnormal origin or aberrant course of coronary artery - 'Abnormal origin or aberrant course of coronary artery' SubClassOf 'group of disorders' + 'Abnormal origin or aberrant course of coronary artery' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269564 Label: Genetic syndrome with a central nervous system malformation as major feature - 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95494 Label: Combined pituitary hormone deficiencies, genetic forms - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'part_of' some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'disease' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_prevalence' some 'Unknown' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'disease' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_95495 Label: Disease associated with non-acquired combined pituitary hormone deficiency - 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95496 Label: Pituitary stalk interruption syndrome - 'Pituitary stalk interruption syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pituitary stalk interruption syndrome' SubClassOf 'morphological anomaly' - 'Pituitary stalk interruption syndrome' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' - 'Pituitary stalk interruption syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pituitary stalk interruption syndrome' SubClassOf 'morphological anomaly' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pituitary stalk interruption syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269560 Label: Genetic cerebellar malformation - 'Genetic cerebellar malformation' SubClassOf 'group of disorders' + 'Genetic cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119182 Label: calsequestrin 2 (cardiac muscle) - 'calsequestrin 2 (cardiac muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calsequestrin 2 (cardiac muscle)' SubClassOf 'gene' + 'calsequestrin 2 (cardiac muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calsequestrin 2 (cardiac muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'calsequestrin 2 (cardiac muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95498 Label: Congenital anomaly of superior vena cava - 'Congenital anomaly of superior vena cava' SubClassOf 'group of disorders' + 'Congenital anomaly of superior vena cava' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95499 Label: Congenital anomaly of the inferior vena cava - 'Congenital anomaly of the inferior vena cava' SubClassOf 'group of disorders' + 'Congenital anomaly of the inferior vena cava' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_394137 Label: corticotropin releasing hormone - 'corticotropin releasing hormone' SubClassOf 'gene' - 'corticotropin releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'corticotropin releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13"^^http://www.w3.org/2001/XMLSchema#string + 'corticotropin releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'corticotropin releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269523 Label: Syndrome with a cerebellar malformation as major feature - 'Syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399980 Label: Rare genetic male infertility - 'Rare genetic male infertility' SubClassOf 'group of disorders' + 'Rare genetic male infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269528 Label: Syndrome with microcephaly as major feature - 'Syndrome with microcephaly as major feature' SubClassOf 'group of disorders' + 'Syndrome with microcephaly as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254525 Label: Paternal 14q32.2 microdeletion syndrome - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' Class: http://www.orpha.net/ORDO/Orphanet_182104 Label: Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease - 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123095 Label: lamin B1 - 'lamin B1' SubClassOf 'gene' - 'lamin B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal dominant leukodystrophy' + 'lamin B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal dominant leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_399983 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182108 Label: Thoracic malformation - 'Thoracic malformation' SubClassOf 'group of disorders' + 'Thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123090 Label: lamin A/C - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B1' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Emery-Dreifuss muscular dystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' - 'lamin A/C' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal codominant severe lipodystrophic laminopathy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heart-hand syndrome, Slovenian type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type A lipodystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1B' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to LMNA mutation' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, K�bberling type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Werner syndrome' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laminopathy type Decaudain-Vigouroux' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, Dunnigan type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeria-associated arthropathy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'lamin A/C' SubClassOf 'gene' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'LMNA-related cardiocutaneous progeria syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B1' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Emery-Dreifuss muscular dystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' + 'lamin A/C' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal codominant severe lipodystrophic laminopathy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heart-hand syndrome, Slovenian type' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type A lipodystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1B' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to LMNA mutation' + 'lamin A/C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Werner syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laminopathy type Decaudain-Vigouroux' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, K�bberling type' + 'lamin A/C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, Dunnigan type' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeria-associated arthropathy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'LMNA-related cardiocutaneous progeria syndrome' Class: http://www.orpha.net/ORDO/Orphanet_182111 Label: Respiratory malformation - 'Respiratory malformation' SubClassOf 'group of disorders' + 'Respiratory malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254516 Label: Motor developmental delay due to 14q32.2 paternally expressed gene defect - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'malformation syndrome' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Syndromic obesity' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_280122 Label: sequestosome 1 - 'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'sequestosome 1' SubClassOf 'gene' + 'sequestosome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string + 'sequestosome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_254519 Label: Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_117903 Label: phosphomannomutase 2 - 'phosphomannomutase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'PMM2-CDG' - 'phosphomannomutase 2' SubClassOf 'gene' + 'phosphomannomutase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'phosphomannomutase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphomannomutase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'PMM2-CDG' Class: http://www.orpha.net/ORDO/Orphanet_220737 Label: interleukin 31 receptor A - 'interleukin 31 receptor A' SubClassOf 'gene' - 'interleukin 31 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'interleukin 31 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 31 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 31 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_298500 Label: atonal homolog 7 (Drosophila) - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital blindness due to retinal non-attachment' - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' - 'atonal homolog 7 (Drosophila)' SubClassOf 'gene' - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract microcornea with corneal opacity' + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital blindness due to retinal non-attachment' + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' + 'atonal homolog 7 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract microcornea with corneal opacity' + 'atonal homolog 7 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269531 Label: Other syndrome with a central nervous system malformation as major feature - 'Other syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Other syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182101 Label: Idiopathic eosinophilic pneumonia - 'Idiopathic eosinophilic pneumonia' SubClassOf 'group of disorders' + 'Idiopathic eosinophilic pneumonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254509 Label: Iatrogenic botulism - 'Iatrogenic botulism' SubClassOf 'part_of' some 'Botulism' - 'Iatrogenic botulism' SubClassOf 'clinical subtype' - 'Iatrogenic botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Iatrogenic botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Iatrogenic botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Iatrogenic botulism' SubClassOf 'clinical subtype' + 'Iatrogenic botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Iatrogenic botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_220744 Label: collagen and calcium binding EGF domains 1 - 'collagen and calcium binding EGF domains 1' SubClassOf 'gene' - 'collagen and calcium binding EGF domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' + 'collagen and calcium binding EGF domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen and calcium binding EGF domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' + 'collagen and calcium binding EGF domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401212 Label: ubiquitin specific peptidase 9, X-linked - 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'gene' + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked non-syndromic intellectual disability' + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269546 Label: Syndrome with a Dandy-Walker malformation as major feature - 'Syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269544 Label: immunoglobulin heavy variable 3-21 - 'immunoglobulin heavy variable 3-21' SubClassOf 'Modifying somatic mutation in' some 'B-cell chronic lymphocytic leukemia' - 'immunoglobulin heavy variable 3-21' SubClassOf 'gene' + 'immunoglobulin heavy variable 3-21' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy variable 3-21' SubClassOf 'Modifying somatic mutation in' some 'B-cell chronic lymphocytic leukemia' + 'immunoglobulin heavy variable 3-21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123076 Label: lectin, mannose-binding, 1 - 'lectin, mannose-binding, 1' SubClassOf 'gene' - 'lectin, mannose-binding, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'lectin, mannose-binding, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'lectin, mannose-binding, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lectin, mannose-binding, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182127 Label: Extragonadal germinoma - 'Extragonadal germinoma' SubClassOf 'disease' - 'Extragonadal germinoma' SubClassOf 'part_of' some 'Extragonadal germ cell tumor' + 'Extragonadal germinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal germ cell tumor' + 'Extragonadal germinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123070 Label: lipopolysaccharide-induced TNF factor - 'lipopolysaccharide-induced TNF factor' SubClassOf 'gene' - 'lipopolysaccharide-induced TNF factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1C' + 'lipopolysaccharide-induced TNF factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3-p12"^^http://www.w3.org/2001/XMLSchema#string + 'lipopolysaccharide-induced TNF factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1C' + 'lipopolysaccharide-induced TNF factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_232288 Label: Alpha-thalassemia-related diseases - 'Alpha-thalassemia-related diseases' SubClassOf 'group of disorders' + 'Alpha-thalassemia-related diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182130 Label: Tumor of endocrine glands - 'Tumor of endocrine glands' SubClassOf 'group of disorders' + 'Tumor of endocrine glands' SubClassOf 'group of disorders' + 'Tumor of endocrine glands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Tumor of endocrine glands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "64.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64692 Label: Oroya fever - 'Oroya fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Oroya fever' SubClassOf 'disease' + 'Oroya fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Oroya fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64694 Label: Trench fever - 'Trench fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Trench fever' SubClassOf 'disease' + 'Trench fever' SubClassOf 'disease' + 'Trench fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_280142 Label: Severe combined immunodeficiency due to LCK deficiency - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254534 Label: Maternal 14q32.2 hypermethylation syndrome - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'etiological subtype' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'etiological subtype' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_269557 Label: Genetic posterior fossa malformation - 'Genetic posterior fossa malformation' SubClassOf 'group of disorders' + 'Genetic posterior fossa malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_240760 Label: Nijmegen breakage syndrome-like disorder - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'malformation syndrome' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Nijmegen breakage syndrome-like disorder' SubClassOf 'malformation syndrome' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254531 Label: Paternal 14q32.2 hypomethylation syndrome - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'etiological subtype' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'part_of' some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'etiological subtype' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269553 Label: Genetic cerebral malformation - 'Genetic cerebral malformation' SubClassOf 'group of disorders' + 'Genetic cerebral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123085 Label: limb development membrane protein 1 - 'limb development membrane protein 1' SubClassOf 'gene' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, bilateral' + 'limb development membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laurin-Sandrow syndrome' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' + 'limb development membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, bilateral' Class: http://www.orpha.net/ORDO/Orphanet_182117 Label: Non-syndromic urogenital tract malformation of female - 'Non-syndromic urogenital tract malformation of female' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of female' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269550 Label: Genetic non-syndromic central nervous system malformation - 'Genetic non-syndromic central nervous system malformation' SubClassOf 'group of disorders' + 'Genetic non-syndromic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182114 Label: Rare urogenital tumor - 'Rare urogenital tumor' SubClassOf 'group of disorders' + 'Rare urogenital tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare urogenital tumor' SubClassOf 'group of disorders' + 'Rare urogenital tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_182124 Label: Non-syndromic urogenital tract malformation of male and female - 'Non-syndromic urogenital tract malformation of male and female' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of male and female' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182121 Label: Non-syndromic urogenital tract malformation of male - 'Non-syndromic urogenital tract malformation of male' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of male' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280133 Label: Complement component 3 deficiency - 'Complement component 3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Complement component 3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Complement component 3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Complement component 3 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Complement component 3 deficiency' SubClassOf 'disease' + 'Complement component 3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Complement component 3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Complement component 3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Complement component 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Complement component 3 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64686 Label: Tolosa-Hunt syndrome - 'Tolosa-Hunt syndrome' SubClassOf 'disease' - 'Tolosa-Hunt syndrome' SubClassOf 'part_of' some 'Rare strabismus and restriction syndrome' + 'Tolosa-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare strabismus and restriction syndrome' + 'Tolosa-Hunt syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254528 Label: Maternal 14q32.2 microdeletion syndrome - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123053 Label: LIM homeobox 3 - 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' - 'LIM homeobox 3' SubClassOf 'gene' - 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'LIM homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' + 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_1580 Label: Distal monosomy 10p - 'Distal monosomy 10p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - 'Distal monosomy 10p' SubClassOf 'malformation syndrome' - 'Distal monosomy 10p' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 10p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 10p' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Distal monosomy 10p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal monosomy 10p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + 'Distal monosomy 10p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal monosomy 10p' SubClassOf 'malformation syndrome' + 'Distal monosomy 10p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal monosomy 10p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1581 Label: Non-distal monosomy 10q - 'Non-distal monosomy 10q' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 10' - 'Non-distal monosomy 10q' SubClassOf 'malformation syndrome' + 'Non-distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 10' + 'Non-distal monosomy 10q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123055 Label: leukemia inhibitory factor receptor alpha - 'leukemia inhibitory factor receptor alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'St�ve-Wiedemann syndrome' - 'leukemia inhibitory factor receptor alpha' SubClassOf 'gene' + 'leukemia inhibitory factor receptor alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13-p12"^^http://www.w3.org/2001/XMLSchema#string + 'leukemia inhibitory factor receptor alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leukemia inhibitory factor receptor alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'St�ve-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97555 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'histopathological subtype' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_97556 Label: Congenital and infantile nephrotic syndrome - 'Congenital and infantile nephrotic syndrome' SubClassOf 'group of disorders' + 'Congenital and infantile nephrotic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123058 Label: ligase IV, DNA, ATP-dependent - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'gene' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ligase IV, DNA, ATP-dependent' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1587 Label: Monosomy 13q14 - 'Monosomy 13q14' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Monosomy 13q14' SubClassOf 'malformation syndrome' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 13' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Monosomy 13q14' SubClassOf 'malformation syndrome' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_117944 Label: P450 (cytochrome) oxidoreductase - 'P450 (cytochrome) oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' - 'P450 (cytochrome) oxidoreductase' SubClassOf 'gene' + 'P450 (cytochrome) oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'P450 (cytochrome) oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' + 'P450 (cytochrome) oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117948 Label: POU class 1 homeobox 1 - 'POU class 1 homeobox 1' SubClassOf 'gene' - 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' - 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'POU class 1 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'POU class 1 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_232223 Label: NK3 homeobox 2 - 'NK3 homeobox 2' SubClassOf 'gene' - 'NK3 homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylo-megaepiphyseal-metaphyseal dysplasia' + 'NK3 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'NK3 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NK3 homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylo-megaepiphyseal-metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_97548 Label: Ivemark syndrome - 'Ivemark syndrome' SubClassOf 'malformation syndrome' - 'Ivemark syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ivemark syndrome' SubClassOf 'part_of' some 'Heterotaxia' + 'Ivemark syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' + 'Ivemark syndrome' SubClassOf 'malformation syndrome' + 'Ivemark syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_117942 Label: protein-O-mannosyltransferase 2 - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'protein-O-mannosyltransferase 2' SubClassOf 'gene' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2N' + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2N' Class: http://www.orpha.net/ORDO/Orphanet_232228 Label: transmembrane and coiled-coil domains 1 - 'transmembrane and coiled-coil domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-thoracic dysplasia' - 'transmembrane and coiled-coil domains 1' SubClassOf 'gene' + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q25"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cerebro-facio-thoracic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1590 Label: Distal monosomy 13q - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 13' - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Distal monosomy 13q' SubClassOf 'malformation syndrome' - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Distal monosomy 13q' SubClassOf 'malformation syndrome' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 13' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_97563 Label: Pauci-immune glomerulonephritis with ANCA - 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'part_of' some 'Pauci-immune glomerulonephritis' - 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'clinical subtype' + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pauci-immune glomerulonephritis' + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_123063 Label: lipase A, lysosomal acid, cholesterol esterase - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'gene' - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolman disease' - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesteryl ester storage disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolman disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2-q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesteryl ester storage disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97560 Label: Idiopathic membranous glomerulonephritis - 'Idiopathic membranous glomerulonephritis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Idiopathic membranous glomerulonephritis' SubClassOf 'disease' + 'Idiopathic membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Idiopathic membranous glomerulonephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97566 Label: Non-amyloid fibrillary glomerulopathy - 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'disease' - 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' + 'Non-amyloid fibrillary glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunotactoid or fibrillary glomerulopathy' + 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97567 Label: Immunotactoid glomerulopathy - 'Immunotactoid glomerulopathy' SubClassOf 'disease' - 'Immunotactoid glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' + 'Immunotactoid glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunotactoid or fibrillary glomerulopathy' + 'Immunotactoid glomerulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123067 Label: lipase, member I - 'lipase, member I' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 4' - 'lipase, member I' SubClassOf 'gene' + 'lipase, member I' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 4' + 'lipase, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97564 Label: Pauci-immune glomerulonephritis without ANCA - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'clinical subtype' - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'part_of' some 'Pauci-immune glomerulonephritis' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'clinical subtype' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pauci-immune glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_1598 Label: Monosomy 18p - 'Monosomy 18p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 18' - 'Monosomy 18p' SubClassOf 'disease' - 'Monosomy 18p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 18p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 18p' SubClassOf 'has_inheritance' some 'sporadic' - 'Monosomy 18p' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Monosomy 18p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 18p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 18p' SubClassOf 'disease' + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 18' + 'Monosomy 18p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 18p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1596 Label: Distal monosomy 15q - 'Distal monosomy 15q' SubClassOf 'malformation syndrome' - 'Distal monosomy 15q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + 'Distal monosomy 15q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + 'Distal monosomy 15q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1597 Label: Distal monosomy 17q - 'Distal monosomy 17q' SubClassOf 'malformation syndrome' - 'Distal monosomy 17q' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 17q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - 'Distal monosomy 17q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal monosomy 17q' SubClassOf 'has_prevalence' some 'Unknown' + 'Distal monosomy 17q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + 'Distal monosomy 17q' SubClassOf 'malformation syndrome' + 'Distal monosomy 17q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Distal monosomy 17q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal monosomy 17q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_117935 Label: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2O' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'gene' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2O' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Muscle-eye-brain disease' Class: http://www.orpha.net/ORDO/Orphanet_117939 Label: protein-O-mannosyltransferase 1 - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2K' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein-O-mannosyltransferase 1' SubClassOf 'gene' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2K' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280151 Label: LCK proto-oncogene, Src family tyrosine kinase - 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LCK deficiency' - 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'gene' + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LCK deficiency' Class: http://www.orpha.net/ORDO/Orphanet_213048 Label: protein kinase, interferon-inducible double stranded RNA dependent activator - 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystonia 16' - 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'gene' + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystonia 16' Class: http://www.orpha.net/ORDO/Orphanet_117931 Label: polymerase (DNA directed), eta - 'polymerase (DNA directed), eta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum variant' - 'polymerase (DNA directed), eta' SubClassOf 'gene' + 'polymerase (DNA directed), eta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), eta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum variant' + 'polymerase (DNA directed), eta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123060 Label: LIM domain kinase 1 - 'LIM domain kinase 1' SubClassOf 'gene' - 'LIM domain kinase 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'LIM domain kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM domain kinase 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'LIM domain kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123034 Label: leptin - 'leptin' SubClassOf 'gene' - 'leptin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to congenital leptin deficiency' + 'leptin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'leptin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to congenital leptin deficiency' + 'leptin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123031 Label: LEM domain containing 3 - 'LEM domain containing 3' SubClassOf 'gene' - 'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated osteopoikilosis' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Buschke-Ollendorff syndrome' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melorheostosis with osteopoikilosis' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' + 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated osteopoikilosis' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Buschke-Ollendorff syndrome' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14"^^http://www.w3.org/2001/XMLSchema#string + 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melorheostosis with osteopoikilosis' Class: http://www.orpha.net/ORDO/Orphanet_269505 Label: Congenital communicating hydrocephalus - 'Congenital communicating hydrocephalus' SubClassOf 'part_of' some 'Congenital hydrocephalus' - 'Congenital communicating hydrocephalus' SubClassOf 'clinical subtype' - 'Congenital communicating hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital communicating hydrocephalus' SubClassOf 'clinical subtype' + 'Congenital communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_138233 Label: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'gene' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_35807 Label: Malignant germ cell tumor of ovary - 'Malignant germ cell tumor of ovary' SubClassOf 'group of disorders' - 'Malignant germ cell tumor of ovary' SubClassOf 'has_prevalence' some 'Unknown' - 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'group of disorders' + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_35808 Label: Malignant ovarian sex cord-stromal tumor - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_prevalence' some 'Unknown' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'group of disorders' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'group of disorders' + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_123038 Label: leptin receptor - 'leptin receptor' SubClassOf 'gene' - 'leptin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to leptin receptor gene deficiency' + 'leptin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to leptin receptor gene deficiency' + 'leptin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string + 'leptin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280183 Label: Methylmalonic aciduria due to transcobalamin receptor defect - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anomaly' + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_117925 Label: polymerase (DNA directed), gamma - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' - 'polymerase (DNA directed), gamma' SubClassOf 'gene' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with epilepsy' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive mitochondrial ataxia syndrome' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpers syndrome' + 'polymerase (DNA directed), gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with epilepsy' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive mitochondrial ataxia syndrome' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpers syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233019 Label: serpin peptidase inhibitor, clade B (ovalbumin), member 6 - 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.2"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_323398 Label: coiled-coil domain containing 114 - 'coiled-coil domain containing 114' SubClassOf 'gene' - 'coiled-coil domain containing 114' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117927 Label: polymerase (DNA directed), gamma 2, accessory subunit - 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'gene' - 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_233016 Label: chromosome 2 open reading frame 71 - 'chromosome 2 open reading frame 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'chromosome 2 open reading frame 71' SubClassOf 'gene' + 'chromosome 2 open reading frame 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'chromosome 2 open reading frame 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 2 open reading frame 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_232248 Label: IQ motif and Sec7 domain 2 - 'IQ motif and Sec7 domain 2' SubClassOf 'gene' - 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' - 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' + 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_232245 Label: itchy E3 ubiquitin protein ligase - 'itchy E3 ubiquitin protein ligase' SubClassOf 'gene' - 'itchy E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic multisystem autoimmune disease due to Itch deficiency' + 'itchy E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'itchy E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'itchy E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic multisystem autoimmune disease due to Itch deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123046 Label: luteinizing hormone beta polypeptide - 'luteinizing hormone beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to LHB deficiency' - 'luteinizing hormone beta polypeptide' SubClassOf 'gene' + 'luteinizing hormone beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to LHB deficiency' + 'luteinizing hormone beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'luteinizing hormone beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399998 Label: Male infertility due to obstructive azoospermia of genetic origin - 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'group of disorders' + 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269510 Label: Congenital non-communicating hydrocephalus - 'Congenital non-communicating hydrocephalus' SubClassOf 'clinical subtype' - 'Congenital non-communicating hydrocephalus' SubClassOf 'part_of' some 'Congenital hydrocephalus' - 'Congenital non-communicating hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital non-communicating hydrocephalus' SubClassOf 'clinical subtype' + 'Congenital non-communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_123042 Label: leucine-rich, glioma inactivated 1 - 'leucine-rich, glioma inactivated 1' SubClassOf 'gene' - 'leucine-rich, glioma inactivated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant epilepsy with auditory features' + 'leucine-rich, glioma inactivated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant epilepsy with auditory features' + 'leucine-rich, glioma inactivated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich, glioma inactivated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399994 Label: Rare male infertility due to adrenal disorder of genetic origin - 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123048 Label: luteinizing hormone/choriogonadotropin receptor - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to partial LH resistance' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial male-limited precocious puberty' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to complete LH resistance' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'gene' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leydig cell hypoplasia due to complete LH resistance' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial male-limited precocious puberty' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leydig cell hypoplasia due to partial LH resistance' Class: http://www.orpha.net/ORDO/Orphanet_117908 Label: peripheral myelin protein 22 - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' - 'peripheral myelin protein 22' SubClassOf 'Major susceptibility factor in' some 'Acute inflammatory demyelinating polyradiculoneuropathy' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1E' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' - 'peripheral myelin protein 22' SubClassOf 'Role in the phenotype of' some 'Hereditary neuropathy with liability to pressure palsies' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1A' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neuropathy with liability to pressure palsies' - 'peripheral myelin protein 22' SubClassOf 'gene' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' + 'peripheral myelin protein 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p12"^^http://www.w3.org/2001/XMLSchema#string + 'peripheral myelin protein 22' SubClassOf 'Major susceptibility factor in' some 'Acute inflammatory demyelinating polyradiculoneuropathy' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1E' + 'peripheral myelin protein 22' SubClassOf 'Role in the phenotype of' some 'Hereditary neuropathy with liability to pressure palsies' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'peripheral myelin protein 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1A' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neuropathy with liability to pressure palsies' Class: http://www.orpha.net/ORDO/Orphanet_232232 Label: myocyte enhancer factor 2C - 'myocyte enhancer factor 2C' SubClassOf 'Role in the phenotype of' some '5q14.3 microdeletion syndrome' - 'myocyte enhancer factor 2C' SubClassOf 'gene' + 'myocyte enhancer factor 2C' SubClassOf 'Role in the phenotype of' some '5q14.3 microdeletion syndrome' + 'myocyte enhancer factor 2C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'myocyte enhancer factor 2C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117916 Label: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'gene' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117913 Label: PMS1 postmeiotic segregation increased 1 (S. cerevisiae) - 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'gene' + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31-q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_299619 Label: chromosome 5 open reading frame 42 - 'chromosome 5 open reading frame 42' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' - 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'chromosome 5 open reading frame 42' SubClassOf 'gene' - 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'chromosome 5 open reading frame 42' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'chromosome 5 open reading frame 42' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'chromosome 5 open reading frame 42' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73247 Label: Eosinophilic esophagitis - 'Eosinophilic esophagitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Eosinophilic esophagitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Eosinophilic esophagitis' SubClassOf 'disease' - 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Eosinophilic esophagitis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'disease' + 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "55.85"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93930 Label: Bladder exstrophy - 'Bladder exstrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Bladder exstrophy' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Bladder exstrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bladder exstrophy' SubClassOf 'clinical subtype' + 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bladder exstrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Bladder exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139145 Label: B-cell CLL/lymphoma 11A (zinc finger protein) - 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'Major susceptibility factor in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'gene' + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'Major susceptibility factor in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93939 Label: Laryngo-tracheo-esophageal cleft type 2 - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1538 Label: Craniosynostosis - Dandy-Walker malformation - hydrocephalus - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'malformation syndrome' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Familial scaphocephaly syndrome' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial scaphocephaly syndrome' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'malformation syndrome' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_209041 Label: Qualitative or quantitative defects of desmin - 'Qualitative or quantitative defects of desmin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of desmin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229801 Label: kinase insert domain receptor (a type III receptor tyrosine kinase) - 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'gene' - 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_93937 Label: Terminal transverse defects of arm - 'Terminal transverse defects of arm' SubClassOf 'part_of' some 'Amniotic bands' - 'Terminal transverse defects of arm' SubClassOf 'morphological anomaly' + 'Terminal transverse defects of arm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amniotic bands' + 'Terminal transverse defects of arm' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93938 Label: Laryngo-tracheo-esophageal cleft type 1 - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209047 Label: Qualitative or quantitative defects of filamin C - 'Qualitative or quantitative defects of filamin C' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of filamin C' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209044 Label: Qualitative or quantitative defects of alphaB-cristallin - 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_292693 Label: KiSS-1 metastasis-suppressor - 'KiSS-1 metastasis-suppressor' SubClassOf 'gene' - 'KiSS-1 metastasis-suppressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_159308 Label: coiled-coil domain containing 50 - 'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'coiled-coil domain containing 50' SubClassOf 'gene' + 'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'coiled-coil domain containing 50' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 50' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1544 Label: Benign focal seizures of adolescence - 'Benign focal seizures of adolescence' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'Benign focal seizures of adolescence' SubClassOf 'disease' + 'Benign focal seizures of adolescence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' + 'Benign focal seizures of adolescence' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122009 Label: galactose-1-phosphate uridylyltransferase - 'galactose-1-phosphate uridylyltransferase' SubClassOf 'gene' - 'galactose-1-phosphate uridylyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic galactosemia' + 'galactose-1-phosphate uridylyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic galactosemia' + 'galactose-1-phosphate uridylyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'galactose-1-phosphate uridylyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1541 Label: Craniosynostosis, Boston type - 'Craniosynostosis, Boston type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis, Boston type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis, Boston type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis, Boston type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis, Boston type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis, Boston type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis, Boston type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Boston type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_124149 Label: phosphodiesterase 6B, cGMP-specific, rod, beta - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'gene' - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_122006 Label: polypeptide N-acetylgalactosaminyltransferase 3 - 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf 'gene' - 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial tumoral calcinosis' + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial tumoral calcinosis' + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24-q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1548 Label: Cryptorchidism - arachnodactyly - intellectual disability - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'malformation syndrome' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'malformation syndrome' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_268357 Label: Neural tube closure defect - 'Neural tube closure defect' SubClassOf 'group of disorders' + 'Neural tube closure defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159303 Label: transmembrane channel-like 6 - 'transmembrane channel-like 6' SubClassOf 'gene' - 'transmembrane channel-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' + 'transmembrane channel-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane channel-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane channel-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' Class: http://www.orpha.net/ORDO/Orphanet_1547 Label: Cryptomicrotia - brachydactyly - excess fingertip arch - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'malformation syndrome' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'malformation syndrome' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1546 Label: Cryptococcosis - 'Cryptococcosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cryptococcosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryptococcosis' SubClassOf 'disease' - 'Cryptococcosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptococcosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptococcosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptococcosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cryptococcosis' SubClassOf 'disease' + 'Cryptococcosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2157 Label: Histidinemia - 'Histidinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Histidinemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Histidinemia' SubClassOf 'part_of' some 'Disorder of histidine metabolism' - 'Histidinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Histidinemia' SubClassOf 'disease' + 'Histidinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of histidine metabolism' + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Histidinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Histidinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Histidinemia' SubClassOf 'disease' + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1545 Label: Crisponi syndrome - 'Crisponi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Crisponi syndrome' SubClassOf 'part_of' some 'Cold-induced sweating syndrome-hyperthermia spectrum' - 'Crisponi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Crisponi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Crisponi syndrome' SubClassOf 'malformation syndrome' + 'Crisponi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crisponi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Crisponi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Crisponi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Crisponi syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122002 Label: galactosamine (N-acetyl)-6-sulfatase - 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'gene' - 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4A' + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4A' + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2155 Label: Hirschsprung disease - deafness - polydactyly - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - deafness - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_139142 Label: aldo-keto reductase family 1, member D1 - 'aldo-keto reductase family 1, member D1' SubClassOf 'gene' - 'aldo-keto reductase family 1, member D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 2' + 'aldo-keto reductase family 1, member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32-q33"^^http://www.w3.org/2001/XMLSchema#string + 'aldo-keto reductase family 1, member D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 2' + 'aldo-keto reductase family 1, member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2156 Label: Hirsutism - skeletal dysplasia - intellectual disability - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124142 Label: programmed cell death 10 - 'programmed cell death 10' SubClassOf 'gene' - 'programmed cell death 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' + 'programmed cell death 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'programmed cell death 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'programmed cell death 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2153 Label: Hirschsprung disease - nail hypoplasia - dysmorphism - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_73256 Label: Central neurocytoma - 'Central neurocytoma' SubClassOf 'disease' - 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Central neurocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Central neurocytoma' SubClassOf 'part_of' some 'Neuronal tumor' - 'Central neurocytoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Central neurocytoma' SubClassOf 'disease' + 'Central neurocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central neurocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal tumor' + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_299622 Label: rogdi homolog (Drosophila) - 'rogdi homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelo-cerebro-hypohidrotic syndrome' - 'rogdi homolog (Drosophila)' SubClassOf 'gene' + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Amelo-cerebro-hypohidrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1540 Label: Jackson-Weiss syndrome - 'Jackson-Weiss syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jackson-Weiss syndrome' SubClassOf 'malformation syndrome' - 'Jackson-Weiss syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Jackson-Weiss syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Jackson-Weiss syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Jackson-Weiss syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Jackson-Weiss syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Jackson-Weiss syndrome' SubClassOf 'malformation syndrome' + 'Jackson-Weiss syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Jackson-Weiss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2151 Label: Hirschsprung disease - ganglioneuroblastoma - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2152 Label: Mowat-Wilson syndrome - 'Mowat-Wilson syndrome' SubClassOf 'malformation syndrome' - 'Mowat-Wilson syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Mowat-Wilson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mowat-Wilson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf 'malformation syndrome' + 'Mowat-Wilson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mowat-Wilson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mowat-Wilson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299625 Label: methylthioadenosine phosphorylase - 'methylthioadenosine phosphorylase' SubClassOf 'gene' - 'methylthioadenosine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphyseal medullary stenosis - bone malignancy' + 'methylthioadenosine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'methylthioadenosine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphyseal medullary stenosis - bone malignancy' + 'methylthioadenosine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_124146 Label: phosphodiesterase 6A, cGMP-specific, rod, alpha - 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'gene' + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2-q34"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2150 Label: Hirschsprung disease - type D brachydactyly - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - type D brachydactyly' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - type D brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93921 Label: Neurofibromatosis type 3 - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Neurofibromatosis type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neurofibromatosis type 3' SubClassOf 'disease' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis type 3' SubClassOf 'disease' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280190 Label: CD320 molecule - 'CD320 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic aciduria due to transcobalamin receptor defect' - 'CD320 molecule' SubClassOf 'gene' + 'CD320 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic aciduria due to transcobalamin receptor defect' + 'CD320 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD320 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217340 Label: 17q21.31 microduplication syndrome - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '17q21.31 microduplication syndrome' SubClassOf 'malformation syndrome' - '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '17q21.31 microduplication syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17q21.31 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + '17q21.31 microduplication syndrome' SubClassOf 'malformation syndrome' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_42642 Label: Marshall syndrome with periodic fever - 'Marshall syndrome with periodic fever' SubClassOf 'part_of' some 'Unexplained periodic fever syndrome' - 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Marshall syndrome with periodic fever' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Marshall syndrome with periodic fever' SubClassOf 'disease' - 'Marshall syndrome with periodic fever' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Marshall syndrome with periodic fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Marshall syndrome with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unexplained periodic fever syndrome' + 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Marshall syndrome with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Marshall syndrome with periodic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209050 Label: Qualitative or quantitative defects of protein ZASP - 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93928 Label: Epispadias - 'Epispadias' SubClassOf 'clinical subtype' - 'Epispadias' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Epispadias' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Epispadias' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Epispadias' SubClassOf 'clinical subtype' + 'Epispadias' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Epispadias' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epispadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Epispadias' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_1549 Label: Cryptosporidiosis - 'Cryptosporidiosis' SubClassOf 'disease' - 'Cryptosporidiosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptosporidiosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cryptosporidiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryptosporidiosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptosporidiosis' SubClassOf 'disease' + 'Cryptosporidiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cryptosporidiosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptosporidiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cryptosporidiosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93929 Label: Cloacal exstrophy - 'Cloacal exstrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cloacal exstrophy' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Cloacal exstrophy' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cloacal exstrophy' SubClassOf 'clinical subtype' - 'Cloacal exstrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cloacal exstrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf 'clinical subtype' + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_209053 Label: Qualitative or quantitative defects of titin - 'Qualitative or quantitative defects of titin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of titin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_361188 Label: ankyrin repeat and sterile alpha motif domain containing 6 - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'gene' - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_93924 Label: Lobar holoprosencephaly - 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Lobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Lobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Lobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Lobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Lobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_93925 Label: Alobar holoprosencephaly - 'Alobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Alobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Alobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Alobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Alobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209056 Label: Qualitative or quantitative defects of telethonin - 'Qualitative or quantitative defects of telethonin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of telethonin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93926 Label: Midline interhemispheric variant of holoprosencephaly - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'clinical subtype' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280195 Label: Septopreoptic holoprosencephaly - 'Septopreoptic holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Septopreoptic holoprosencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Septopreoptic holoprosencephaly' SubClassOf 'clinical subtype' - 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Septopreoptic holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Septopreoptic holoprosencephaly' SubClassOf 'clinical subtype' + 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73260 Label: Paracoccidioidomycosis - 'Paracoccidioidomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paracoccidioidomycosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Paracoccidioidomycosis' SubClassOf 'disease' - 'Paracoccidioidomycosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Paracoccidioidomycosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Paracoccidioidomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Paracoccidioidomycosis' SubClassOf 'disease' + 'Paracoccidioidomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paracoccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_1553 Label: Curry-Jones syndrome - 'Curry-Jones syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Curry-Jones syndrome' SubClassOf 'malformation syndrome' - 'Curry-Jones syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Curry-Jones syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Curry-Jones syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Curry-Jones syndrome' SubClassOf 'malformation syndrome' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Curry-Jones syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_292698 Label: retinoblastoma binding protein 8 - 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' - 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jawad syndrome' - 'retinoblastoma binding protein 8' SubClassOf 'gene' + 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'retinoblastoma binding protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoblastoma binding protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jawad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1552 Label: Currarino triad - 'Currarino triad' SubClassOf 'has_inheritance' some 'sporadic' - 'Currarino triad' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Currarino triad' SubClassOf 'malformation syndrome' - 'Currarino triad' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Currarino triad' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Currarino triad' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Currarino triad' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Currarino triad' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Currarino triad' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Currarino triad' SubClassOf 'malformation syndrome' + 'Currarino triad' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Currarino triad' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Currarino triad' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_209059 Label: Qualitative or quantitative defects of alpha-actin - 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_320317 Label: Cleft lip/palate - ectodermal dysplasia - 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'group of disorders' + 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1555 Label: Cutis gyrata - acanthosis nigricans - craniosynostosis - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'malformation syndrome' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'malformation syndrome' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_2168 Label: Homocarnosinosis - 'Homocarnosinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Homocarnosinosis' SubClassOf 'part_of' some 'Disorder of peptide metabolism' - 'Homocarnosinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Homocarnosinosis' SubClassOf 'disease' - 'Homocarnosinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Homocarnosinosis' SubClassOf 'disease' + 'Homocarnosinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Homocarnosinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peptide metabolism' + 'Homocarnosinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Homocarnosinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1556 Label: Cutis marmorata telangiectatica congenita - 'Cutis marmorata telangiectatica congenita' SubClassOf 'malformation syndrome' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'part_of' some 'Skin vascular disease' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_inheritance' some 'sporadic' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'part_of' some 'Capillary malformation' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'malformation syndrome' + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2169 Label: Methylcobalamin deficiency type cblE - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' - 'Methylcobalamin deficiency type cblE' SubClassOf 'part_of' some 'Homocystinuria without methylmalonic aciduria' - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Methylcobalamin deficiency type cblE' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylcobalamin deficiency type cblE' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homocystinuria without methylmalonic aciduria' + 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblE' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Methylcobalamin deficiency type cblE' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122015 Label: gigaxonin - 'gigaxonin' SubClassOf 'gene' - 'gigaxonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Giant axonal neuropathy' + 'gigaxonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'gigaxonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Giant axonal neuropathy' + 'gigaxonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268369 Label: Spina bifida aperta - 'Spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Spina bifida aperta' SubClassOf 'part_of' some 'Isolated spina bifida' - 'Spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Spina bifida aperta' SubClassOf 'morphological anomaly' + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "51.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "400.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated spina bifida' + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "62.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "400.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217346 Label: 19q13.11 microdeletion syndrome - '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 19' - '19q13.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '19q13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19q13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 19' + '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '19q13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268366 Label: Closed iniencephaly - 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Closed iniencephaly' SubClassOf 'part_of' some 'Iniencephaly' - 'Closed iniencephaly' SubClassOf 'clinical subtype' - 'Closed iniencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Closed iniencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Closed iniencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Closed iniencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iniencephaly' + 'Closed iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Closed iniencephaly' SubClassOf 'clinical subtype' + 'Closed iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_73267 Label: Hypernychthemeral syndrome - 'Hypernychthemeral syndrome' SubClassOf 'part_of' some 'Sleep disorder' - 'Hypernychthemeral syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hypernychthemeral syndrome' SubClassOf 'disease' - 'Hypernychthemeral syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hypernychthemeral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypernychthemeral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypernychthemeral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypernychthemeral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Hypernychthemeral syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2165 Label: Holoprosencephaly - caudal dysgenesis - 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_299630 Label: phosphodiesterase 4D, cAMP-specific - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'gene' + 'phosphodiesterase 4D, cAMP-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 4D, cAMP-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' + 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_2166 Label: Holoprosencephaly - postaxial polydactyly - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'malformation syndrome' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122011 Label: guanidinoacetate N-methyltransferase - 'guanidinoacetate N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guanidinoacetate methyltransferase deficiency' - 'guanidinoacetate N-methyltransferase' SubClassOf 'gene' + 'guanidinoacetate N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guanidinoacetate methyltransferase deficiency' + 'guanidinoacetate N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'guanidinoacetate N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2167 Label: Holzgreve-Wagner-Rehder syndrome - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'malformation syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'malformation syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299636 Label: phosphatidylinositol glycan anchor biosynthesis, class L - 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHIME syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHIME syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p12-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_73263 Label: Zygomycosis - 'Zygomycosis' SubClassOf 'disease' - 'Zygomycosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Zygomycosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Zygomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Zygomycosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Zygomycosis' SubClassOf 'disease' + 'Zygomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Zygomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Zygomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_268363 Label: Open iniencephaly - 'Open iniencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Open iniencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Open iniencephaly' SubClassOf 'part_of' some 'Iniencephaly' - 'Open iniencephaly' SubClassOf 'clinical subtype' - 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Open iniencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Open iniencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iniencephaly' + 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Open iniencephaly' SubClassOf 'clinical subtype' + 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Open iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Open iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_1551 Label: Familial benign copper deficiency - 'Familial benign copper deficiency' SubClassOf 'disease' - 'Familial benign copper deficiency' SubClassOf 'part_of' some 'Disorder of copper metabolism' + 'Familial benign copper deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'Familial benign copper deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2162 Label: Holoprosencephaly - 'Holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Holoprosencephaly' SubClassOf 'malformation syndrome' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Midline cerebral malformation' - 'Holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Holoprosencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "60.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Midline cerebral malformation' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "502.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Holoprosencephaly' SubClassOf 'malformation syndrome' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_124154 Label: platelet-derived growth factor receptor, alpha polypeptide - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'gene' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRA rearrangement' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRA rearrangement' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2163 Label: Holoprosencephaly - craniosynostosis - 'Holoprosencephaly - craniosynostosis' SubClassOf 'malformation syndrome' - 'Holoprosencephaly - craniosynostosis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Holoprosencephaly - craniosynostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Holoprosencephaly - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Holoprosencephaly - craniosynostosis' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_93951 Label: X-linked dominant intellectual disability - epilepsy - 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'disease' - 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' + 'X-linked dominant intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' + 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139168 Label: kallikrein-related peptidase 4 - 'kallikrein-related peptidase 4' SubClassOf 'gene' - 'kallikrein-related peptidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'kallikrein-related peptidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'kallikrein-related peptidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.41"^^http://www.w3.org/2001/XMLSchema#string + 'kallikrein-related peptidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93952 Label: X-linked intellectual disability, Hedera type - 'X-linked intellectual disability, Hedera type' SubClassOf 'disease' - 'X-linked intellectual disability, Hedera type' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' + 'X-linked intellectual disability, Hedera type' SubClassOf 'disease' + 'X-linked intellectual disability, Hedera type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_183422 Label: Polymalformative genetic syndrome with increased risk of developing cancer - 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'group of disorders' + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'group of disorders' + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93950 Label: X-linked intellectual disability, Sutherland-Haan type - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139165 Label: ets variant 6 - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' - 'ets variant 6' SubClassOf 'gene' + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'ets variant 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' + 'ets variant 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93955 Label: Benign essential blepharospasm - 'Benign essential blepharospasm' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Benign essential blepharospasm' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Benign essential blepharospasm' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Benign essential blepharospasm' SubClassOf 'disease' + 'Benign essential blepharospasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Benign essential blepharospasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Benign essential blepharospasm' SubClassOf 'disease' + 'Benign essential blepharospasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Benign essential blepharospasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_2170 Label: Methylcobalamin deficiency type cblG - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Homocystinuria without methylmalonic aciduria' - 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylcobalamin deficiency type cblG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylcobalamin deficiency type cblG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homocystinuria without methylmalonic aciduria' + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' Class: http://www.orpha.net/ORDO/Orphanet_93956 Label: Truncal dystonia - 'Truncal dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Truncal dystonia' SubClassOf 'disease' + 'Truncal dystonia' SubClassOf 'disease' + 'Truncal dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_235199 Label: CD81 molecule - 'CD81 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'CD81 molecule' SubClassOf 'gene' + 'CD81 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'CD81 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD81 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93953 Label: Familial thyroglossal duct cyst - 'Familial thyroglossal duct cyst' SubClassOf 'part_of' some 'Congenital thyroid malformation without hypothyroidism' - 'Familial thyroglossal duct cyst' SubClassOf 'morphological anomaly' - 'Familial thyroglossal duct cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital thyroid malformation without hypothyroidism' + 'Familial thyroglossal duct cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217371 Label: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_93957 Label: Limb dystonia - 'Limb dystonia' SubClassOf 'disease' - 'Limb dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Limb dystonia' SubClassOf 'disease' + 'Limb dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93958 Label: Oromandibular dystonia - 'Oromandibular dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Oromandibular dystonia' SubClassOf 'disease' + 'Oromandibular dystonia' SubClassOf 'disease' + 'Oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_361157 Label: sodium channel, voltage-gated, type II, beta subunit - 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'gene' + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_313947 Label: 2q23.1 microduplication syndrome - '2q23.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 2' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '2q23.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 2' + '2q23.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q23.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124129 Label: pericentriolar material 1 - 'pericentriolar material 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'pericentriolar material 1' SubClassOf 'gene' + 'pericentriolar material 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'pericentriolar material 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pericentriolar material 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22-p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1568 Label: X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1566 Label: Dandy-Walker malformation - postaxial polydactyly - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_124125 Label: phosphoenolpyruvate carboxykinase 2 (mitochondrial) - 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 2 deficiency' - 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'gene' + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_73271 Label: Bleeding diathesis due to a collagen receptor defect - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a platelet receptor defect' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease' + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1564 Label: Dandy-Walker malformation - facial hemangioma - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dandy-Walker malformation - facial hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1563 Label: Dahlberg-Borer-Newcomer syndrome - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'malformation syndrome' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'malformation syndrome' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_73273 Label: Growth delay due to insulin-like growth factor I resistance - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'disease' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_prevalence' some 'Unknown' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'disease' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1562 Label: Dacryocystitis - osteopoikilosis - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'malformation syndrome' + 'Dacryocystitis - osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Dacryocystitis - osteopoikilosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dacryocystitis - osteopoikilosis' SubClassOf 'malformation syndrome' + 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_217377 Label: Microduplication Xp11.22-p11.23 syndrome - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome X' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'malformation syndrome' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome X' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73272 Label: Growth delay due to insulin-like growth factor type 1 deficiency - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'disease' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'disease' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1561 Label: Fatal infantile cytochrome C oxidase deficiency - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1560 Label: Cysticercosis - 'Cysticercosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cysticercosis' SubClassOf 'disease' - 'Cysticercosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cysticercosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cysticercosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cysticercosis' SubClassOf 'disease' + 'Cysticercosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cysticercosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cysticercosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_73274 Label: Acquired hemophilia - 'Acquired hemophilia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired hemophilia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acquired hemophilia' SubClassOf 'disease' - 'Acquired hemophilia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired hemophilia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired hemophilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired hemophilia' SubClassOf 'disease' + 'Acquired hemophilia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired hemophilia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_124123 Label: phosphoenolpyruvate carboxykinase 1 (soluble) - 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'gene' - 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 1 deficiency' + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 1 deficiency' + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.31"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2172 Label: Microcephaly - glomerulonephritis - marfanoid habitus - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159322 Label: ATPase, H+ transporting, lysosomal V0 subunit a2 - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 2, classic type' - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'gene' - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wrinkly skin syndrome' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive cutis laxa type 2, classic type' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Wrinkly skin syndrome' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139163 Label: excision repair cross-complementation group 1 - 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' - 'excision repair cross-complementation group 1' SubClassOf 'gene' - 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' + 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' + 'excision repair cross-complementation group 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_2177 Label: Hydranencephaly - 'Hydranencephaly' SubClassOf 'malformation syndrome' - 'Hydranencephaly' SubClassOf 'part_of' some 'Encephaloclastic disorder' + 'Hydranencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephaloclastic disorder' + 'Hydranencephaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235193 Label: membrane-spanning 4-domains, subfamily A, member 1 - 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'gene' - 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12-q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_268377 Label: Total spina bifida aperta - 'Total spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Total spina bifida aperta' SubClassOf 'clinical subtype' - 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Total spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Total spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Total spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Total spina bifida aperta' SubClassOf 'clinical subtype' + 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Total spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Total spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_2176 Label: Infantile systemic hyalinosis - 'Infantile systemic hyalinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile systemic hyalinosis' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Infantile systemic hyalinosis' SubClassOf 'malformation syndrome' - 'Infantile systemic hyalinosis' SubClassOf 'part_of' some 'Primary osteolysis' - 'Infantile systemic hyalinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile systemic hyalinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Infantile systemic hyalinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile systemic hyalinosis' SubClassOf 'malformation syndrome' + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_235187 Label: spectrin, alpha, non-erythrocytic 1 - 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'gene' - 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'spectrin, alpha, non-erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'spectrin, alpha, non-erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_42665 Label: Tietz syndrome - 'Tietz syndrome' SubClassOf 'malformation syndrome' - 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tietz syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Tietz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tietz syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Tietz syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Tietz syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tietz syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf 'malformation syndrome' + 'Tietz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tietz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93940 Label: Laryngo-tracheo-esophageal cleft type 3 - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93941 Label: Laryngo-tracheo-esophageal cleft type 4 - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93942 Label: Celosomia - 'Celosomia' SubClassOf 'part_of' some 'Sternal cleft' - 'Celosomia' SubClassOf 'morphological anomaly' + 'Celosomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sternal cleft' + 'Celosomia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_139158 Label: charged multivesicular body protein 4B - 'charged multivesicular body protein 4B' SubClassOf 'gene' - 'charged multivesicular body protein 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'charged multivesicular body protein 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'charged multivesicular body protein 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'charged multivesicular body protein 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' Class: http://www.orpha.net/ORDO/Orphanet_2181 Label: Hydrocephaly - tall stature - joint laxity - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'malformation syndrome' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrocephaly - tall stature - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephaly - tall stature - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235189 Label: heparanase 2 (inactive) - 'heparanase 2 (inactive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' - 'heparanase 2 (inactive)' SubClassOf 'gene' + 'heparanase 2 (inactive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'heparanase 2 (inactive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' + 'heparanase 2 (inactive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93945 Label: X-linked intellectual disability, Porteous type - 'X-linked intellectual disability, Porteous type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Porteous type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Porteous type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Porteous type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2180 Label: Hydrocephalus - costovertebral dysplasia - Sprengel anomaly - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'malformation syndrome' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'malformation syndrome' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93946 Label: Hamel cerebro-palato-cardiac syndrome - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'part_of' some 'Renpenning syndrome' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'clinical subtype' + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'clinical subtype' + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93947 Label: X-linked intellectual disability, Golabi-Ito-Hall type - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'clinical subtype' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_390922 Label: growth factor independent 1B transcription repressor - 'growth factor independent 1B transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' - 'growth factor independent 1B transcription repressor' SubClassOf 'gene' + 'growth factor independent 1B transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' + 'growth factor independent 1B transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth factor independent 1B transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313936 Label: PENS syndrome - 'PENS syndrome' SubClassOf 'disease' - 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PENS syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'PENS syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'PENS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PENS syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'PENS syndrome' SubClassOf 'disease' + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'PENS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'PENS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35858 Label: Gr�sbeck-Imerslund disease - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Intestinal disease due to vitamin absorption anomaly' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Gr�sbeck-Imerslund disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to vitamin absorption anomaly' + 'Gr�sbeck-Imerslund disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gr�sbeck-Imerslund disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Gr�sbeck-Imerslund disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_320332 Label: X-linked pure spastic paraplegia - 'X-linked pure spastic paraplegia' SubClassOf 'group of disorders' + 'X-linked pure spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1578 Label: Dehydratase deficiency - 'Dehydratase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dehydratase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dehydratase deficiency' SubClassOf 'clinical subtype' - 'Dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dehydratase deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + 'Dehydratase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + 'Dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dehydratase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_320335 Label: Pure or complex hereditary spastic paraplegia - 'Pure or complex hereditary spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex hereditary spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1574 Label: Retinal degeneration - nanophthalmos - glaucoma - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'malformation syndrome' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'malformation syndrome' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_124137 Label: proprotein convertase subtilisin/kexin type 9 - 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' - 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'gene' + 'proprotein convertase subtilisin/kexin type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1-p32"^^http://www.w3.org/2001/XMLSchema#string + 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'proprotein convertase subtilisin/kexin type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1576 Label: Infantile bilateral striatal necrosis - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Infantile bilateral striatal necrosis' SubClassOf 'disease' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Infantile bilateral striatal necrosis' SubClassOf 'disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1571 Label: Knobloch syndrome - 'Knobloch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Knobloch syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Knobloch syndrome' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Knobloch syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Knobloch syndrome' SubClassOf 'malformation syndrome' + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Knobloch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Knobloch syndrome' SubClassOf 'malformation syndrome' + 'Knobloch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2182 Label: Hydrocephalus with stenosis of the aqueduct of Sylvius - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'clinical subtype' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'part_of' some 'L1 syndrome' + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'clinical subtype' + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268384 Label: Thoracolumbosacral spina bifida aperta - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'clinical subtype' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thoracolumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'clinical subtype' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1570 Label: Symbrachydactyly of hands and feet - 'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Brachydactyly' - 'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome' + 'Symbrachydactyly of hands and feet' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly' + 'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2183 Label: Hydrocephalus - obesity - hypogonadism - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'part_of' some 'Syndromic obesity' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'malformation syndrome' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'malformation syndrome' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1573 Label: Hypotrichosis with juvenile macular degeneration - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'malformation syndrome' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'malformation syndrome' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1572 Label: Common variable immunodeficiency - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Common variable immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Common variable immunodeficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Common variable immunodeficiency' SubClassOf 'disease' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.87"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.073"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'disease' + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency predominantly affecting antibody production' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2185 Label: Congenital hydrocephalus - 'Congenital hydrocephalus' SubClassOf 'malformation syndrome' - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Non-syndromic central nervous system malformation' - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Congenital hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital hydrocephalus' SubClassOf 'malformation syndrome' + 'Congenital hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "300.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic central nervous system malformation' + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_159313 Label: zinc finger, DHHC-type containing 9 - 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' - 'zinc finger, DHHC-type containing 9' SubClassOf 'gene' + 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' + 'zinc finger, DHHC-type containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, DHHC-type containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139150 Label: bridging integrator 1 - 'bridging integrator 1' SubClassOf 'gene' - 'bridging integrator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124131 Label: proprotein convertase subtilisin/kexin type 1 - 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to prohormone convertase I deficiency' - 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'gene' + 'proprotein convertase subtilisin/kexin type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to prohormone convertase I deficiency' + 'proprotein convertase subtilisin/kexin type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q15-q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2186 Label: Hydrocephalus - blue sclerae - nephropathy - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'malformation syndrome' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'malformation syndrome' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_268388 Label: Lumbosacral spina bifida aperta - 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Lumbosacral spina bifida aperta' SubClassOf 'clinical subtype' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' + 'Lumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lumbosacral spina bifida aperta' SubClassOf 'clinical subtype' + 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_2189 Label: Hydrolethalus - 'Hydrolethalus' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Hydrolethalus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hydrolethalus' SubClassOf 'malformation syndrome' - 'Hydrolethalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrolethalus' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrolethalus' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Hydrolethalus' SubClassOf 'malformation syndrome' + 'Hydrolethalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_235181 Label: potassium inwardly-rectifying channel, subfamily J, member 5 - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperaldosteronism type III' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial hyperaldosteronism type III' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_35878 Label: Hyperinsulinism-hyperammonemia syndrome - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_281695 Label: N(alpha)-acetyltransferase 10, NatA catalytic subunit - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'gene' - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_49804 Label: Lichen amyloidosis - 'Lichen amyloidosis' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Lichen amyloidosis' SubClassOf 'disease' + 'Lichen amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Lichen amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139109 Label: chymotrypsin C (caldecrin) - 'chymotrypsin C (caldecrin)' SubClassOf 'gene' - 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' - 'chymotrypsin C (caldecrin)' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' + 'chymotrypsin C (caldecrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.21"^^http://www.w3.org/2001/XMLSchema#string + 'chymotrypsin C (caldecrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'chymotrypsin C (caldecrin)' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_281690 Label: biliverdin reductase A - 'biliverdin reductase A' SubClassOf 'gene' - 'biliverdin reductase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperbiliverdinemia' + 'biliverdin reductase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperbiliverdinemia' + 'biliverdin reductase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'biliverdin reductase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313920 Label: Epstein-Barr virus-associated gastric carcinoma - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'disease' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated carcinoma' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'part_of' some 'Gastric cancer' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'disease' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_139106 Label: protease, serine, 2 (trypsin 2) - 'protease, serine, 2 (trypsin 2)' SubClassOf 'gene' - 'protease, serine, 2 (trypsin 2)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 2 (trypsin 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'protease, serine, 2 (trypsin 2)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 2 (trypsin 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_217396 Label: Progressive demyelinating neuropathy with bilateral striatal necrosis - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'disease' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93976 Label: Anotia - 'Anotia' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Anotia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anotia' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly' - 'Anotia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anotia' SubClassOf 'morphological anomaly' + 'Anotia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.028"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anotia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pinnae and external auditory canal anomaly' + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93975 Label: Renier-Gabreels-Jasper syndrome - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'malformation syndrome' + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'malformation syndrome' + 'Renier-Gabreels-Jasper syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Renier-Gabreels-Jasper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2190 Label: Congenital hydronephrosis - 'Congenital hydronephrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital hydronephrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital hydronephrosis' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Congenital hydronephrosis' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Congenital hydronephrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hydronephrosis' SubClassOf 'morphological anomaly' + 'Congenital hydronephrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Congenital hydronephrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hydronephrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Congenital hydronephrosis' SubClassOf 'morphological anomaly' + 'Congenital hydronephrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_268392 Label: Cervical spina bifida aperta - 'Cervical spina bifida aperta' SubClassOf 'clinical subtype' - 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervical spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervical spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cervical spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervical spina bifida aperta' SubClassOf 'clinical subtype' + 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93974 Label: Smith-Fineman-Myers syndrome - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Smith-Fineman-Myers syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Smith-Fineman-Myers syndrome' SubClassOf 'malformation syndrome' - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Smith-Fineman-Myers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Smith-Fineman-Myers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Smith-Fineman-Myers syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93973 Label: Carpenter-Waziri syndrome - 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carpenter-Waziri syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Carpenter-Waziri syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Carpenter-Waziri syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carpenter-Waziri syndrome' SubClassOf 'malformation syndrome' + 'Carpenter-Waziri syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carpenter-Waziri syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carpenter-Waziri syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carpenter-Waziri syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93972 Label: Juberg-Marsidi syndrome - 'Juberg-Marsidi syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Juberg-Marsidi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Juberg-Marsidi syndrome' SubClassOf 'malformation syndrome' - 'Juberg-Marsidi syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Juberg-Marsidi syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Juberg-Marsidi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Juberg-Marsidi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juberg-Marsidi syndrome' SubClassOf 'malformation syndrome' + 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juberg-Marsidi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Juberg-Marsidi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93971 Label: Chudley-Lowry-Hoar syndrome - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'malformation syndrome' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'malformation syndrome' + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Chudley-Lowry-Hoar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Chudley-Lowry-Hoar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217390 Label: Combined immunodeficiency due to DOCK8 deficiency - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Autosomal recessive hyper-IgE syndrome' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hyper-IgE syndrome' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'clinical subtype' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320342 Label: Pure or complex autosomal dominant spastic paraplegia - 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122045 Label: glutaryl-CoA dehydrogenase - 'glutaryl-CoA dehydrogenase' SubClassOf 'gene' - 'glutaryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaryl-CoA dehydrogenase deficiency' + 'glutaryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaryl-CoA dehydrogenase deficiency' + 'glutaryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutaryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2199 Label: Epidermolytic palmoplantar keratoderma - 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' - 'Epidermolytic palmoplantar keratoderma' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268397 Label: Cervicothoracic spina bifida aperta - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervicothoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervicothoracic spina bifida aperta' SubClassOf 'clinical subtype' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' + 'Cervicothoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervicothoracic spina bifida aperta' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2198 Label: Palmoplantar keratoderma-esophageal carcinoma syndrome - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_261295 Label: 20p12.3 microdeletion syndrome - '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '20p12.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '20p12.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '20p12.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 20' + '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '20p12.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '20p12.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '20p12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 20' + '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_122043 Label: glucan (1,4-alpha-), branching enzyme 1 - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'gene' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult polyglucosan body disease' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult polyglucosan body disease' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2197 Label: Idiopathic hypercalciuria - 'Idiopathic hypercalciuria' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Idiopathic hypercalciuria' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Idiopathic hypercalciuria' SubClassOf 'disease' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Idiopathic hypercalciuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124187 Label: peptidase D - 'peptidase D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prolidase deficiency' - 'peptidase D' SubClassOf 'gene' + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prolidase deficiency' + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2196 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disease' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_169960 Label: succinyl-CoA:glutarate-CoA transferase - 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 3' - 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'gene' + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 3' + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217399 Label: Congenital insensitivity to pain with hyperhidrosis - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'part_of' some 'Hereditary sensory and autonomic neuropathy' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'disease' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary sensory and autonomic neuropathy' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'disease' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2195 Label: Dicarboxylic aminoaciduria - 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dicarboxylic aminoaciduria' SubClassOf 'disease' - 'Dicarboxylic aminoaciduria' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' + 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dicarboxylic aminoaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Dicarboxylic aminoaciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124189 Label: peroxisomal biogenesis factor 1 - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 1' SubClassOf 'gene' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2194 Label: Anti-HLA hyperimmunization - 'Anti-HLA hyperimmunization' SubClassOf 'part_of' some 'Rare immune disease' - 'Anti-HLA hyperimmunization' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anti-HLA hyperimmunization' SubClassOf 'has_prevalence' some 'Unknown' - 'Anti-HLA hyperimmunization' SubClassOf 'disease' - 'Anti-HLA hyperimmunization' SubClassOf 'has_inheritance' some 'sporadic' + 'Anti-HLA hyperimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Anti-HLA hyperimmunization' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anti-HLA hyperimmunization' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' + 'Anti-HLA hyperimmunization' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398416 Label: glycophorin C (Gerbich blood group) - 'glycophorin C (Gerbich blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' - 'glycophorin C (Gerbich blood group)' SubClassOf 'gene' + 'glycophorin C (Gerbich blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycophorin C (Gerbich blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14-q21"^^http://www.w3.org/2001/XMLSchema#string + 'glycophorin C (Gerbich blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_261290 Label: Trisomy 17p - 'Trisomy 17p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' - 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 17p' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 17p' SubClassOf 'has_prevalence' some 'Unknown' - 'Trisomy 17p' SubClassOf 'malformation syndrome' + 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trisomy 17p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' + 'Trisomy 17p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 17p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 17p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122048 Label: GTP cyclohydrolase 1 - 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GTP cyclohydrolase I deficiency' - 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant dopa-responsive dystonia' - 'GTP cyclohydrolase 1' SubClassOf 'gene' + 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GTP cyclohydrolase I deficiency' + 'GTP cyclohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant dopa-responsive dystonia' + 'GTP cyclohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320346 Label: Pure or complex autosomal recessive spastic paraplegia - 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1501 Label: Adrenocortical carcinoma - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'Rare cause of hypertension' - 'Adrenocortical carcinoma' SubClassOf 'disease' - 'Adrenocortical carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Adrenocortical carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'ACTH-independent Cushing syndrome' - 'Adrenocortical carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Adrenocortical carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Adrenocortical carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adrenocortical carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH-independent Cushing syndrome' + 'Adrenocortical carcinoma' SubClassOf 'disease' + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cause of hypertension' + 'Adrenocortical carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_325448 Label: Leydig cell hypoplasia due to LHB deficiency - 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'part_of' some 'Leydig cell hypoplasia' - 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'clinical subtype' + 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leydig cell hypoplasia' + 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1506 Label: Thin ribs - tubular bones - dysmorphism - 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'malformation syndrome' + 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'malformation syndrome' + 'Thin ribs - tubular bones - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1505 Label: Short rib-polydactyly syndrome - 'Short rib-polydactyly syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Short rib-polydactyly syndrome' SubClassOf 'group of disorders' - 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short rib-polydactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short rib-polydactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short rib-polydactyly syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1508 Label: Coxoauricular syndrome - 'Coxoauricular syndrome' SubClassOf 'malformation syndrome' - 'Coxoauricular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coxoauricular syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coxoauricular syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Coxoauricular syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Coxoauricular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coxoauricular syndrome' SubClassOf 'malformation syndrome' + 'Coxoauricular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Coxoauricular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Coxoauricular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_35889 Label: Acute opioid poisoning - 'Acute opioid poisoning' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute opioid poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute opioid poisoning' SubClassOf 'disease' - 'Acute opioid poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute opioid poisoning' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute opioid poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute opioid poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Acute opioid poisoning' SubClassOf 'disease' + 'Acute opioid poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1507 Label: Autosomal recessive Robinow syndrome - 'Autosomal recessive Robinow syndrome' SubClassOf 'clinical subtype' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Robinow syndrome' SubClassOf 'part_of' some 'Robinow syndrome' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive Robinow syndrome' SubClassOf 'clinical subtype' + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Robinow syndrome' + 'Autosomal recessive Robinow syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93969 Label: Myelomeningocele - 'Myelomeningocele' SubClassOf 'has_inheritance' some 'sporadic' - 'Myelomeningocele' SubClassOf 'morphological anomaly' - 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Myelomeningocele' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Myelomeningocele' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Myelomeningocele' SubClassOf 'morphological anomaly' + 'Myelomeningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myelomeningocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Myelomeningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_236656 Label: CD2-associated protein - 'CD2-associated protein' SubClassOf 'gene' - 'CD2-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'CD2-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'CD2-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD2-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_1509 Label: Coxopodopatellar syndrome - 'Coxopodopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coxopodopatellar syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coxopodopatellar syndrome' SubClassOf 'disease' - 'Coxopodopatellar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Coxopodopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Coxopodopatellar syndrome' SubClassOf 'disease' + 'Coxopodopatellar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coxopodopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_217382 Label: Neurodegenerative syndrome due to cerebral folate transport deficiency - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_93964 Label: Blepharospasm - oromandibular dystonia - 'Blepharospasm - oromandibular dystonia' SubClassOf 'disease' - 'Blepharospasm - oromandibular dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Blepharospasm - oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Blepharospasm - oromandibular dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217385 Label: 17p13.3 microduplication syndrome - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' - '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '17p13.3 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '17p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' + '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17p13.3 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93961 Label: Laryngeal dyskinesia - 'Laryngeal dyskinesia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Laryngeal dyskinesia' SubClassOf 'disease' + 'Laryngeal dyskinesia' SubClassOf 'disease' + 'Laryngeal dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93963 Label: Autosomal dominant focal dystonia, DYT7 type - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'disease' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'disease' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_124191 Label: peroxisomal biogenesis factor 10 - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to PEX10 deficiency' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 10' SubClassOf 'gene' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to PEX10 deficiency' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.32"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93962 Label: Autosomal dominant cervical dystonia - 'Autosomal dominant cervical dystonia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal dominant cervical dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Autosomal dominant cervical dystonia' SubClassOf 'disease' - 'Autosomal dominant cervical dystonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant cervical dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf 'disease' + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Autosomal dominant cervical dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_320350 Label: Pure or complex X-linked spastic paraplegia - 'Pure or complex X-linked spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex X-linked spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124196 Label: peroxisomal biogenesis factor 13 - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 13' SubClassOf 'gene' - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122053 Label: glucokinase (hexokinase 4) - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'glucokinase (hexokinase 4)' SubClassOf 'gene' - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to glucokinase deficiency' - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'glucokinase (hexokinase 4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to glucokinase deficiency' + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'glucokinase (hexokinase 4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.3-p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124194 Label: peroxisomal biogenesis factor 12 - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 12' SubClassOf 'gene' - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_93970 Label: Holmes-Gang syndrome - 'Holmes-Gang syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Holmes-Gang syndrome' SubClassOf 'malformation syndrome' - 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holmes-Gang syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Holmes-Gang syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Holmes-Gang syndrome' SubClassOf 'malformation syndrome' + 'Holmes-Gang syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holmes-Gang syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Holmes-Gang syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_124198 Label: peroxisomal biogenesis factor 14 - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 14' SubClassOf 'gene' - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169953 Label: golgin, RAB6-interacting - 'golgin, RAB6-interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' - 'golgin, RAB6-interacting' SubClassOf 'gene' + 'golgin, RAB6-interacting' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'golgin, RAB6-interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' + 'golgin, RAB6-interacting' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_313906 Label: Congenital pancreatic cyst - 'Congenital pancreatic cyst' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pancreatic cyst' SubClassOf 'morphological anomaly' - 'Congenital pancreatic cyst' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital pancreatic cyst' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital pancreatic cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital pancreatic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Congenital pancreatic cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1512 Label: Crane-Heise syndrome - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Crane-Heise syndrome' SubClassOf 'malformation syndrome' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Crane-Heise syndrome' SubClassOf 'malformation syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122057 Label: glutamate-cysteine ligase, catalytic subunit - 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'gene' - 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamylcysteine synthetase deficiency' + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamylcysteine synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_320355 Label: Autosomal dominant spastic paraplegia type 41 - 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 41' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1513 Label: Craniodiaphyseal dysplasia - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniodiaphyseal dysplasia' SubClassOf 'malformation syndrome' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniodiaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Craniodiaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniodiaphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1514 Label: Craniodigital syndrome - intellectual disability - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'malformation syndrome' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Craniodigital syndrome - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniodigital syndrome - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1515 Label: Cranioectodermal dysplasia - 'Cranioectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'malformation syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Cranioectodermal dysplasia' SubClassOf 'malformation syndrome' + 'Cranioectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Cranioectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_169957 Label: prickle homolog 1 (Drosophila) - 'prickle homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'prickle homolog 1 (Drosophila)' SubClassOf 'gene' + 'prickle homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'prickle homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'prickle homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_49827 Label: Thiamine-responsive megaloblastic anemia syndrome - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_361114 Label: chromodomain helicase DNA binding protein 2 - 'chromodomain helicase DNA binding protein 2' SubClassOf 'gene' - 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' - 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonic-astastic epilepsy' + 'chromodomain helicase DNA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' + 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonic-astastic epilepsy' + 'chromodomain helicase DNA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1519 Label: Hypertelorism, Teebi type - 'Hypertelorism, Teebi type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism, Teebi type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertelorism, Teebi type' SubClassOf 'malformation syndrome' - 'Hypertelorism, Teebi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Hypertelorism, Teebi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism, Teebi type' SubClassOf 'malformation syndrome' + 'Hypertelorism, Teebi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism, Teebi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1517 Label: Hypertrichotic osteochondrodysplasia, Cantu type - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some 'sporadic' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'malformation syndrome' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1516 Label: Craniofacial dyssynostosis - 'Craniofacial dyssynostosis' SubClassOf 'malformation syndrome' - 'Craniofacial dyssynostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofacial dyssynostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial dyssynostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf 'malformation syndrome' + 'Craniofacial dyssynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniofacial dyssynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniofacial dyssynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320360 Label: Maternally-inherited spastic paraplegia - 'Maternally-inherited spastic paraplegia' SubClassOf 'part_of' some 'Complex hereditary spastic paraplegia' - 'Maternally-inherited spastic paraplegia' SubClassOf 'disease' + 'Maternally-inherited spastic paraplegia' SubClassOf 'disease' + 'Maternally-inherited spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex hereditary spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_124166 Label: pyruvate dehydrogenase complex, component X - 'pyruvate dehydrogenase complex, component X' SubClassOf 'gene' - 'pyruvate dehydrogenase complex, component X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E3-binding protein deficiency' + 'pyruvate dehydrogenase complex, component X' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate dehydrogenase complex, component X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E3-binding protein deficiency' + 'pyruvate dehydrogenase complex, component X' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_124161 Label: pyruvate dehydrogenase (lipoamide) alpha 1 - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-alpha deficiency' - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'gene' - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-alpha deficiency' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122022 Label: glycyl-tRNA synthetase - 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' - 'glycyl-tRNA synthetase' SubClassOf 'gene' - 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' + 'glycyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'glycyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' Class: http://www.orpha.net/ORDO/Orphanet_124164 Label: pyruvate dehydrogenase (lipoamide) beta - 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'gene' - 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-beta deficiency' + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-beta deficiency' + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1-p14.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1525 Label: Cranio-osteoarthropathy - 'Cranio-osteoarthropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cranio-osteoarthropathy' SubClassOf 'part_of' some 'Primary hypertrophic osteoarthropathy' - 'Cranio-osteoarthropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cranio-osteoarthropathy' SubClassOf 'malformation syndrome' - 'Cranio-osteoarthropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Cranio-osteoarthropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypertrophic osteoarthropathy' + 'Cranio-osteoarthropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cranio-osteoarthropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cranio-osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cranio-osteoarthropathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320365 Label: Autosomal dominant spastic paraplegia type 36 - 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 36' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1524 Label: Craniomicromelic syndrome - 'Craniomicromelic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniomicromelic syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniomicromelic syndrome' SubClassOf 'malformation syndrome' + 'Craniomicromelic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniomicromelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniomicromelic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169944 Label: lipin 1 - 'lipin 1' SubClassOf 'gene' - 'lipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'lipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'lipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' Class: http://www.orpha.net/ORDO/Orphanet_63999 Label: Mediastinal fibrosis - 'Mediastinal fibrosis' SubClassOf 'disease' - 'Mediastinal fibrosis' SubClassOf 'part_of' some 'Rare respiratory disease' + 'Mediastinal fibrosis' SubClassOf 'disease' + 'Mediastinal fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_361109 Label: GDP-mannose pyrophosphorylase B - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'gene' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2T' + 'GDP-mannose pyrophosphorylase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'GDP-mannose pyrophosphorylase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2T' Class: http://www.orpha.net/ORDO/Orphanet_1521 Label: Craniofrontonasal dysplasia - Poland anomaly - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Syndromic breast hypoplasia/aplasia' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic breast hypoplasia/aplasia' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1522 Label: Craniometaphyseal dysplasia - 'Craniometaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Craniometaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniometaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Craniometaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniometaphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122028 Label: GATA binding protein 1 (globin transcription factor 1) - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia with congenital dyserythropoietic anemia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia - X-linked thrombocytopenia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'gene' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia with congenital dyserythropoietic anemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Blackfan-Diamond anemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia - X-linked thrombocytopenia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_1520 Label: Craniofrontonasal dysplasia - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Craniofrontonasal dysplasia' SubClassOf 'malformation syndrome' - 'Craniofrontonasal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Craniofrontonasal dysplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Craniofrontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofrontonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Craniofrontonasal dysplasia' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Craniofrontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1528 Label: Craniotelencephalic dysplasia - 'Craniotelencephalic dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniotelencephalic dysplasia' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Craniotelencephalic dysplasia' SubClassOf 'malformation syndrome' + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniotelencephalic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1527 Label: Craniosynostosis, Philadelphia type - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis, Philadelphia type' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Craniosynostosis, Philadelphia type' SubClassOf 'malformation syndrome' - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis, Philadelphia type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Craniosynostosis, Philadelphia type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Craniosynostosis, Philadelphia type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis, Philadelphia type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis, Philadelphia type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1529 Label: Craniofacial-deafness-hand syndrome - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofacial-deafness-hand syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Craniofacial-deafness-hand syndrome' SubClassOf 'malformation syndrome' + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_320370 Label: Autosomal recessive spastic paraplegia type 43 - 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 43' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_122033 Label: GATA binding protein 3 - 'GATA binding protein 3' SubClassOf 'gene' - 'GATA binding protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoparathyroidism - deafness - renal disease' - 'GATA binding protein 3' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypoparathyroidism - deafness - renal disease' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 3' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320375 Label: Autosomal recessive spastic paraplegia type 55 - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124173 Label: pancreatic and duodenal homeobox 1 - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' - 'pancreatic and duodenal homeobox 1' SubClassOf 'gene' - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'pancreatic and duodenal homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'pancreatic and duodenal homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122035 Label: GATA binding protein 4 - 'GATA binding protein 4' SubClassOf 'gene' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' - 'GATA binding protein 4' SubClassOf 'Role in the phenotype of' some '8p23.1 microdeletion syndrome' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - Fallot tetralogy' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - left heart obstruction' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Partial atrioventricular canal' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1-p22"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 4' SubClassOf 'Role in the phenotype of' some '8p23.1 microdeletion syndrome' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - left heart obstruction' Class: http://www.orpha.net/ORDO/Orphanet_1535 Label: Craniosynostosis - dysmorphism - brachydactyly - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'malformation syndrome' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'malformation syndrome' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122037 Label: glycine amidinotransferase (L-arginine:glycine amidinotransferase) - 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'gene' - 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arginine:glycine amidinotransferase deficiency' + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arginine:glycine amidinotransferase deficiency' + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169936 Label: eyes shut homolog (Drosophila) - 'eyes shut homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'eyes shut homolog (Drosophila)' SubClassOf 'gene' + 'eyes shut homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'eyes shut homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eyes shut homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1530 Label: Craniosynostosis - cataract - 'Craniosynostosis - cataract' SubClassOf 'malformation syndrome' - 'Craniosynostosis - cataract' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Craniosynostosis - cataract' SubClassOf 'malformation syndrome' + 'Craniosynostosis - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_122039 Label: glucosidase, beta, acid - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal Gaucher disease' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 3' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 1' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 2' - 'glucosidase, beta, acid' SubClassOf 'gene' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' - 'glucosidase, beta, acid' SubClassOf 'Major susceptibility factor in' some 'Young adult-onset Parkinsonism' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal Gaucher disease' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 3' + 'glucosidase, beta, acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 1' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 2' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' + 'glucosidase, beta, acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucosidase, beta, acid' SubClassOf 'Major susceptibility factor in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_1531 Label: Craniosynostosis - 'Craniosynostosis' SubClassOf 'group of disorders' + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "47.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Craniosynostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1532 Label: G�mez-L�pez-Hern�ndez syndrome - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'malformation syndrome' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'malformation syndrome' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_1533 Label: Craniosynostosis - fibular aplasia - 'Craniosynostosis - fibular aplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - fibular aplasia' SubClassOf 'malformation syndrome' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniosynostosis - fibular aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniosynostosis - fibular aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis - fibular aplasia' SubClassOf 'malformation syndrome' + 'Craniosynostosis - fibular aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - fibular aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2203 Label: Hyperlysinemia - 'Hyperlysinemia' SubClassOf 'part_of' some 'Disorder of lysine and hydroxylysine metabolism' - 'Hyperlysinemia' SubClassOf 'disease' - 'Hyperlysinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperlysinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperlysinemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperlysinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperlysinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysine and hydroxylysine metabolism' + 'Hyperlysinemia' SubClassOf 'disease' + 'Hyperlysinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2204 Label: Dysplastic cortical hyperostosis - 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' - 'Dysplastic cortical hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' + 'Dysplastic cortical hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2201 Label: Palmoplantar keratoderma-spastic paralysis syndrome - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2202 Label: Palmoplantar keratoderma-deafness syndrome - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2207 Label: Familial primary hyperparathyroidism - 'Familial primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hyperparathyroidism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial primary hyperparathyroidism' SubClassOf 'group of disorders' - 'Familial primary hyperparathyroidism' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hyperparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial primary hyperparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169910 Label: phosphodiesterase 11A - 'phosphodiesterase 11A' SubClassOf 'gene' - 'phosphodiesterase 11A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 11A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2206 Label: Ankylosing vertebral hyperostosis with tylosis - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'malformation syndrome' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'malformation syndrome' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159252 Label: zinc finger protein 674 - 'zinc finger protein 674' SubClassOf 'gene' - 'zinc finger protein 674' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 674' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 674' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 674' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119010 Label: B-cell CLL/lymphoma 7B - 'B-cell CLL/lymphoma 7B' SubClassOf 'gene' - 'B-cell CLL/lymphoma 7B' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119012 Label: BCL6 corepressor - 'BCL6 corepressor' SubClassOf 'gene' - 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculofaciocardiodental syndrome' - 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'BCL6 corepressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculofaciocardiodental syndrome' + 'BCL6 corepressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string + 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' Class: http://www.orpha.net/ORDO/Orphanet_261243 Label: 16p13.11 microduplication syndrome - '16p13.11 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p13.11 microduplication syndrome' SubClassOf 'malformation syndrome' - '16p13.11 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' - '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '16p13.11 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' + '16p13.11 microduplication syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p13.11 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_159255 Label: porcupine homolog (Drosophila) - 'porcupine homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal dermal hypoplasia' - 'porcupine homolog (Drosophila)' SubClassOf 'gene' + 'porcupine homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal dermal hypoplasia' + 'porcupine homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'porcupine homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2200 Label: Focal palmoplantar and gingival keratoderma - 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' - 'Focal palmoplantar and gingival keratoderma' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Focal palmoplantar and gingival keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93890 Label: Rare developmental defect during embryogenesis - 'Rare developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare developmental defect during embryogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare developmental defect during embryogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.42"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_212892 Label: solute carrier family 1 (glial high affinity glutamate transporter), member 3 - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'gene' - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 6' - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 6' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319667 Label: Primary lymphoma of the conjunctiva - 'Primary lymphoma of the conjunctiva' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary lymphoma of the conjunctiva' SubClassOf 'disease' + 'Primary lymphoma of the conjunctiva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' + 'Primary lymphoma of the conjunctiva' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119016 Label: breakpoint cluster region - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'breakpoint cluster region' SubClassOf 'gene' - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'breakpoint cluster region' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'breakpoint cluster region' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11"^^http://www.w3.org/2001/XMLSchema#string + 'breakpoint cluster region' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'breakpoint cluster region' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169908 Label: dynein, axonemal, intermediate chain 2 - 'dynein, axonemal, intermediate chain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'dynein, axonemal, intermediate chain 2' SubClassOf 'gene' + 'dynein, axonemal, intermediate chain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, intermediate chain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, intermediate chain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212898 Label: pleckstrin homology domain containing, family M (with RUN domain) member 1 - 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'gene' - 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_90673 Label: Hypothyroidism due to TSH receptor mutations - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'part_of' some 'Primary congenital hypothyroidism without thyroid developmental anomaly' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_prevalence' some 'Unknown' + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease' + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary congenital hypothyroidism without thyroid developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_169905 Label: T-box 15 - 'T-box 15' SubClassOf 'gene' - 'T-box 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelviscapular dysplasia' + 'T-box 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p11.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelviscapular dysplasia' + 'T-box 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90674 Label: Isolated thyroid-stimulating hormone deficiency - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'disease' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'disease' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_90692 Label: Rare endocrine growth disease - 'Rare endocrine growth disease' SubClassOf 'group of disorders' + 'Rare endocrine growth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261250 Label: 16q24.3 microdeletion syndrome - '16q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16q24.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' + '16q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 16' + '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16q24.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_319651 Label: Constitutional megaloblastic anemia with severe neurologic disease - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_119021 Label: BC1 (ubiquinol-cytochrome c reductase) synthesis-like - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubulopathy - encephalopathy - liver failure' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'GRACILE syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bj�rnstad syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'gene' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubulopathy - encephalopathy - liver failure' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'GRACILE syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bj�rnstad syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261257 Label: Distal 17p13.3 microdeletion syndrome - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119029 Label: bestrophin 1 - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive bestrophinopathy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Best vitelliform macular dystrophy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MRCS syndrome' - 'bestrophin 1' SubClassOf 'gene' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant vitreoretinochoroidopathy' + 'bestrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12"^^http://www.w3.org/2001/XMLSchema#string + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive bestrophinopathy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Best vitelliform macular dystrophy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MRCS syndrome' + 'bestrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant vitreoretinochoroidopathy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_119027 Label: brain-derived neurotrophic factor - 'brain-derived neurotrophic factor' SubClassOf 'Modifying germline mutation in' some 'WAGR syndrome' - 'brain-derived neurotrophic factor' SubClassOf 'gene' - 'brain-derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'brain-derived neurotrophic factor' SubClassOf 'Modifying germline mutation in' some 'WAGR syndrome' + 'brain-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'brain-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2229 Label: Dilated cardiomyopathy - hypergonadotropic hypogonadism - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2228 Label: Hypodontia - dysplasia of nails - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypodontia - dysplasia of nails' SubClassOf 'malformation syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypodontia - dysplasia of nails' SubClassOf 'malformation syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2224 Label: Hypertryptophanemia - 'Hypertryptophanemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertryptophanemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypertryptophanemia' SubClassOf 'disease' - 'Hypertryptophanemia' SubClassOf 'part_of' some 'Disorder of tryptophan metabolism' + 'Hypertryptophanemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertryptophanemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertryptophanemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tryptophan metabolism' + 'Hypertryptophanemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2221 Label: Acquired hypertrichosis lanuginosa - 'Acquired hypertrichosis lanuginosa' SubClassOf 'part_of' some 'Hypertrichosis' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'disease' + 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired hypertrichosis lanuginosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Acquired hypertrichosis lanuginosa' SubClassOf 'disease' + 'Acquired hypertrichosis lanuginosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_261265 Label: 17q12 microdeletion syndrome - '17q12 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '17q12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '17q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + '17q12 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2222 Label: Hypertrichosis lanuginosa congenita - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Eyebrow/eyelashes hypertrichosis' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Hypertrichosis' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'disease' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes hypertrichosis' + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Hypertrichosis lanuginosa congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichosis lanuginosa congenita' SubClassOf 'disease' + 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2220 Label: Hypertrichosis cubiti - short stature - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypertrichosis cubiti - short stature' SubClassOf 'part_of' some 'Hypertrichosis' - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrichosis cubiti - short stature' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypertrichosis cubiti - short stature' SubClassOf 'malformation syndrome' + 'Hypertrichosis cubiti - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypertrichosis cubiti - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis cubiti - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertrichosis cubiti - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Hypertrichosis cubiti - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichosis cubiti - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319640 Label: Retinal macular dystrophy type 2 - 'Retinal macular dystrophy type 2' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Retinal macular dystrophy type 2' SubClassOf 'disease' + 'Retinal macular dystrophy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Retinal macular dystrophy type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119034 Label: beaded filament structural protein 2, phakinin - 'beaded filament structural protein 2, phakinin' SubClassOf 'gene' - 'beaded filament structural protein 2, phakinin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial congenital cataract' + 'beaded filament structural protein 2, phakinin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'beaded filament structural protein 2, phakinin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beaded filament structural protein 2, phakinin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_104012 Label: Rare inflammatory bowel disease - 'Rare inflammatory bowel disease' SubClassOf 'group of disorders' + 'Rare inflammatory bowel disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90658 Label: Charcot-Marie-Tooth disease type 1E - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_104011 Label: Intestinal tumor - 'Intestinal tumor' SubClassOf 'group of disorders' + 'Intestinal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104010 Label: Intestinal polyposis syndrome - 'Intestinal polyposis syndrome' SubClassOf 'group of disorders' + 'Intestinal polyposis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285758 Label: growth arrest-specific 1 - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'gene' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth arrest-specific 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159272 Label: radixin - 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'radixin' SubClassOf 'gene' + 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'radixin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'radixin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313892 Label: Developmental and speech delay due to SOX5 deficiency - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'disease' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'disease' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_319646 Label: PGM-CDG - 'PGM-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'PGM-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'PGM-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'PGM-CDG' SubClassOf 'disease' - 'PGM-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'PGM-CDG' SubClassOf 'disease' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'PGM-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_323407 Label: endothelin converting enzyme-like 1 - 'endothelin converting enzyme-like 1' SubClassOf 'gene' - 'endothelin converting enzyme-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal arthrogryposis type 5D' + 'endothelin converting enzyme-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin converting enzyme-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'endothelin converting enzyme-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal arthrogryposis type 5D' Class: http://www.orpha.net/ORDO/Orphanet_104013 Label: Metabolic disease with intestinal involvement - 'Metabolic disease with intestinal involvement' SubClassOf 'group of disorders' + 'Metabolic disease with intestinal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181111 Label: F-box protein 7 - 'F-box protein 7' SubClassOf 'gene' - 'F-box protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' + 'F-box protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'F-box protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'F-box protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397802 Label: T+ B+ severe combined immunodeficiency - 'T+ B+ severe combined immunodeficiency' SubClassOf 'group of disorders' + 'T+ B+ severe combined immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90650 Label: Otopalatodigital syndrome type 1 - 'Otopalatodigital syndrome type 1' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome' - 'Otopalatodigital syndrome type 1' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otopalatodigital syndrome' + 'Otopalatodigital syndrome type 1' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_90652 Label: Otopalatodigital syndrome type 2 - 'Otopalatodigital syndrome type 2' SubClassOf 'clinical subtype' - 'Otopalatodigital syndrome type 2' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome' + 'Otopalatodigital syndrome type 2' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otopalatodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90653 Label: Stickler syndrome type 1 - 'Stickler syndrome type 1' SubClassOf 'part_of' some 'Stickler syndrome' - 'Stickler syndrome type 1' SubClassOf 'clinical subtype' - 'Stickler syndrome type 1' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Stickler syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stickler syndrome' + 'Stickler syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_90654 Label: Stickler syndrome type 2 - 'Stickler syndrome type 2' SubClassOf 'clinical subtype' - 'Stickler syndrome type 2' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Stickler syndrome type 2' SubClassOf 'part_of' some 'Stickler syndrome' - 'Stickler syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Stickler syndrome type 2' SubClassOf 'clinical subtype' + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Stickler syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2216 Label: Maternal hyperthermia induced birth defects - 'Maternal hyperthermia induced birth defects' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' - 'Maternal hyperthermia induced birth defects' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Maternal hyperthermia induced birth defects' SubClassOf 'malformation syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf 'malformation syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternal disease-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_2218 Label: Cervical hypertrichosis - peripheral neuropathy - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Hypertrichosis' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_169900 Label: glutaredoxin 5 - 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive sideroblastic anemia' - 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity-ataxia-gait anomalies syndrome' - 'glutaredoxin 5' SubClassOf 'gene' + 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive sideroblastic anemia' + 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity-ataxia-gait anomalies syndrome' + 'glutaredoxin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutaredoxin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2213 Label: Hypertelorism-microtia-facial clefting syndrome - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261272 Label: 17q12 microduplication syndrome - '17q12 microduplication syndrome' SubClassOf 'malformation syndrome' - '17q12 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - '17q12 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '17q12 microduplication syndrome' SubClassOf 'malformation syndrome' + '17q12 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_2215 Label: Malignant hyperthermia - arthrogryposis - torticollis - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'malformation syndrome' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'malformation syndrome' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_181116 Label: eomesodermin - 'eomesodermin' SubClassOf 'gene' - 'eomesodermin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - polymicrogyria - corpus callosum agenesis' + 'eomesodermin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'eomesodermin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eomesodermin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - polymicrogyria - corpus callosum agenesis' Class: http://www.orpha.net/ORDO/Orphanet_2211 Label: Hypertelorism - hypospadias - polysyndactyly syndrome - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119045 Label: biogenesis of lysosomal organelles complex-1, subunit 3 - 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 8' - 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'gene' + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 8' + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_181119 Label: SECIS binding protein 2 - 'SECIS binding protein 2' SubClassOf 'gene' - 'SECIS binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' + 'SECIS binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'SECIS binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SECIS binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' Class: http://www.orpha.net/ORDO/Orphanet_261279 Label: 17q23.1q23.2 microdeletion syndrome - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q23.1q23.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17q23.1q23.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_119048 Label: bone morphogenetic protein receptor, type IA - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'gene' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' + 'bone morphogenetic protein receptor, type IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' + 'bone morphogenetic protein receptor, type IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' Class: http://www.orpha.net/ORDO/Orphanet_244810 Label: DCC netrin 1 receptor - 'DCC netrin 1 receptor' SubClassOf 'gene' - 'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' + 'DCC netrin 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DCC netrin 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' Class: http://www.orpha.net/ORDO/Orphanet_370924 Label: STT3B-CDG - 'STT3B-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'STT3B-CDG' SubClassOf 'disease' - 'STT3B-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'STT3B-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'STT3B-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'STT3B-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'STT3B-CDG' SubClassOf 'disease' + 'STT3B-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'STT3B-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_104003 Label: Congenital intestinal transport defect - 'Congenital intestinal transport defect' SubClassOf 'group of disorders' + 'Congenital intestinal transport defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104005 Label: Intestinal disease due to fat malabsorption - 'Intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' + 'Intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181121 Label: spermatogenesis associated 16 - 'spermatogenesis associated 16' SubClassOf 'gene' - 'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'spermatogenesis associated 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermatogenesis associated 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.31"^^http://www.w3.org/2001/XMLSchema#string + 'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' Class: http://www.orpha.net/ORDO/Orphanet_370921 Label: STT3A-CDG - 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'STT3A-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'STT3A-CDG' SubClassOf 'disease' - 'STT3A-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'STT3A-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'STT3A-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'STT3A-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'STT3A-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'STT3A-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'STT3A-CDG' SubClassOf 'disease' + 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_319635 Label: Amyloidosis cutis dyschromia - 'Amyloidosis cutis dyschromia' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Amyloidosis cutis dyschromia' SubClassOf 'disease' + 'Amyloidosis cutis dyschromia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Amyloidosis cutis dyschromia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_104004 Label: Intestinal disease due to vitamin absorption anomaly - 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'group of disorders' + 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104007 Label: Congenital enteropathy involving intestinal mucosa development - 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'group of disorders' + 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104006 Label: Congenital intestinal disease due to an enzymatic defect - 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'group of disorders' + 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104009 Label: Congenital intestinal motility disorder - 'Congenital intestinal motility disorder' SubClassOf 'group of disorders' + 'Congenital intestinal motility disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104008 Label: Short bowel syndrome - 'Short bowel syndrome' SubClassOf 'group of disorders' + 'Short bowel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Short bowel syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370927 Label: SSR4-CDG - 'SSR4-CDG' SubClassOf 'disease' - 'SSR4-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'SSR4-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SSR4-CDG' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'SSR4-CDG' SubClassOf 'has_inheritance' some 'x linked recessive' - 'SSR4-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SSR4-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SSR4-CDG' SubClassOf 'disease' + 'SSR4-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2209 Label: Maternal hyperphenylalaninemia - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal hyperphenylalaninemia' SubClassOf 'malformation syndrome' - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Disorder of phenylalanine metabolism' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Maternal hyperphenylalaninemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Maternal hyperphenylalaninemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternal hyperphenylalaninemia' SubClassOf 'malformation syndrome' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phenylalanine metabolism' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternal disease-related embryofetopathy' + 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_73220 Label: X-linked intellectual disability - hypotonic face - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'group of disorders' + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - hypotonic face' SubClassOf 'group of disorders' + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73223 Label: Global developmental delay - osteopenia - ectodermal defect - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'malformation syndrome' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'malformation syndrome' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_159213 Label: TRIO and F-actin binding protein - 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'TRIO and F-actin binding protein' SubClassOf 'gene' + 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'TRIO and F-actin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'TRIO and F-actin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139173 Label: mesoderm posterior basic helix-loop-helix transcription factor 2 - 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'gene' - 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_73224 Label: Tubular renal disease - cardiomyopathy - 'Tubular renal disease - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'disease' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Tubular renal disease - cardiomyopathy' SubClassOf 'disease' + 'Tubular renal disease - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tubular renal disease - cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2241 Label: Megacystis-microcolon-intestinal hypoperistalsis syndrome - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'malformation syndrome' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'malformation syndrome' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_124239 Label: phosphate regulating endopeptidase homolog, X-linked - 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypophosphatemia' - 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'gene' + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypophosphatemia' + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2248 Label: Hypoplastic left heart syndrome - 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoplastic left heart syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypoplastic left heart syndrome' SubClassOf 'morphological anomaly' - 'Hypoplastic left heart syndrome' SubClassOf 'part_of' some 'Univentricular cardiopathy' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'morphological anomaly' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Univentricular cardiopathy' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "56.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2246 Label: Cerebellar hypoplasia - tapetoretinal degeneration - 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'malformation syndrome' + 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159219 Label: spectrin repeat containing, nuclear envelope 1 - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive myogenic arthrogryposis multiplex congenita' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia, Beauce type' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'gene' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.2-q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive myogenic arthrogryposis multiplex congenita' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia, Beauce type' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2249 Label: Ulna hypoplasia - intellectual disability - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ulna hypoplasia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ulna hypoplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Ulna hypoplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Ulna hypoplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_370938 Label: Salt-and-pepper syndrome - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'ST3GAL5-CDG' - 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Salt-and-pepper syndrome' SubClassOf 'disease' - 'Salt-and-pepper syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Salt-and-pepper syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Salt-and-pepper syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Salt-and-pepper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation anomaly of the skin' + 'Salt-and-pepper syndrome' SubClassOf 'disease' + 'Salt-and-pepper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ST3GAL5-CDG' + 'Salt-and-pepper syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139178 Label: myotubularin related protein 14 - 'myotubularin related protein 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'myotubularin related protein 14' SubClassOf 'gene' + 'myotubularin related protein 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'myotubularin related protein 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26"^^http://www.w3.org/2001/XMLSchema#string + 'myotubularin related protein 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370930 Label: XYLT1-CDG - 'XYLT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'XYLT1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'XYLT1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'XYLT1-CDG' SubClassOf 'disease' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'XYLT1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'XYLT1-CDG' SubClassOf 'disease' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139176 Label: matrix metallopeptidase 20 - 'matrix metallopeptidase 20' SubClassOf 'gene' - 'matrix metallopeptidase 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'matrix metallopeptidase 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'matrix metallopeptidase 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_73217 Label: M�llerian aplasia - 'M�llerian aplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'M�llerian aplasia' SubClassOf 'group of disorders' - 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'M�llerian aplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'M�llerian aplasia' SubClassOf 'group of disorders' + 'M�llerian aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_104077 Label: Myopathic intestinal pseudoobstruction - 'Myopathic intestinal pseudoobstruction' SubClassOf 'part_of' some 'Chronic intestinal pseudoobstruction' - 'Myopathic intestinal pseudoobstruction' SubClassOf 'etiological subtype' + 'Myopathic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic intestinal pseudoobstruction' + 'Myopathic intestinal pseudoobstruction' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_104078 Label: Unclassified intestinal pseudoobstruction - 'Unclassified intestinal pseudoobstruction' SubClassOf 'etiological subtype' - 'Unclassified intestinal pseudoobstruction' SubClassOf 'part_of' some 'Chronic intestinal pseudoobstruction' + 'Unclassified intestinal pseudoobstruction' SubClassOf 'etiological subtype' + 'Unclassified intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_104075 Label: Small bowel adenocarcinoma - 'Small bowel adenocarcinoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Small bowel adenocarcinoma' SubClassOf 'disease' + 'Small bowel adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Small bowel adenocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_9 Label: Tetrasomy X - 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetrasomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Tetrasomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Tetrasomy X' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Tetrasomy X' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tetrasomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Tetrasomy X' SubClassOf 'malformation syndrome' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Tetrasomy X' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Tetrasomy X' SubClassOf 'malformation syndrome' + 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_370933 Label: ST3GAL5-CDG - 'ST3GAL5-CDG' SubClassOf 'group of disorders' + 'ST3GAL5-CDG' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319623 Label: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'etiological subtype' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_104076 Label: Small bowel leiomyosarcoma - 'Small bowel leiomyosarcoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Small bowel leiomyosarcoma' SubClassOf 'disease' + 'Small bowel leiomyosarcoma' SubClassOf 'disease' + 'Small bowel leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_5 Label: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some '3-hydroxyacyl-CoA dehydrogenase deficiency' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-hydroxyacyl-CoA dehydrogenase deficiency' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_261211 Label: 16p11.2p12.2 microdeletion syndrome - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p11.2p12.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16p11.2p12.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_6 Label: Isolated 3-methylcrotonyl-CoA carboxylase deficiency - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124223 Label: phosphofructokinase, muscle - 'phosphofructokinase, muscle' SubClassOf 'gene' - 'phosphofructokinase, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphofructokinase deficiency' + 'phosphofructokinase, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.11"^^http://www.w3.org/2001/XMLSchema#string + 'phosphofructokinase, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphofructokinase deficiency' + 'phosphofructokinase, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_7 Label: 3C syndrome - '3C syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '3C syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3C syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3C syndrome' SubClassOf 'malformation syndrome' - '3C syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3C syndrome' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - '3C syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '3C syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - '3C syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + '3C syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '3C syndrome' SubClassOf 'malformation syndrome' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + '3C syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_8 Label: 47,XYY syndrome - '47,XYY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '47,XYY syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - '47,XYY syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - '47,XYY syndrome' SubClassOf 'malformation syndrome' - '47,XYY syndrome' SubClassOf 'part_of' some 'Y chromosome number anomaly' + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + '47,XYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + '47,XYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.1"^^http://www.w3.org/2001/XMLSchema#string) + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + '47,XYY syndrome' SubClassOf 'malformation syndrome' + '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Y chromosome number anomaly' + '47,XYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_139184 Label: NLR family, pyrin domain containing 1 - 'NLR family, pyrin domain containing 1' SubClassOf 'gene' - 'NLR family, pyrin domain containing 1' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' - 'NLR family, pyrin domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' + 'NLR family, pyrin domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string + 'NLR family, pyrin domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, pyrin domain containing 1' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'NLR family, pyrin domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' Class: http://www.orpha.net/ORDO/Orphanet_2230 Label: Hypogonadotropic hypogonadism - frontoparietal alopecia - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'disease' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'disease' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2233 Label: Hypogonadism - mitral valve prolapse - intellectual disability - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_2232 Label: Primary hypergonadotropic hypogonadism - partial alopecia - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2235 Label: Hypogonadotropic hypogonadism - retinitis pigmentosa - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'disease' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'disease' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_2234 Label: Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'malformation syndrome' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299660 Label: v-akt murine thymoma viral oncogene homolog 3 - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'gene' - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2237 Label: Hypoparathyroidism - deafness - renal disease - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'malformation syndrome' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'malformation syndrome' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_363306 Label: Genetic intestinal disease due to fat malabsorption - 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' + 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124229 Label: phosphoglucomutase 1 - 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglucomutase deficiency' - 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PGM-CDG' - 'phosphoglucomutase 1' SubClassOf 'gene' + 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglucomutase deficiency' + 'phosphoglucomutase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglucomutase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PGM-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2239 Label: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'part_of' some 'Familial isolated hypoparathyroidism' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated hypoparathyroidism' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_124227 Label: phosphoglycerate kinase 1 - 'phosphoglycerate kinase 1' SubClassOf 'gene' - 'phosphoglycerate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' + 'phosphoglycerate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglycerate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglycerate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2238 Label: Familial isolated hypoparathyroidism - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Genetic hypoparathyroidism' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Rare hypoparathyroidism' - 'Familial isolated hypoparathyroidism' SubClassOf 'disease' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Familial isolated hypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial isolated hypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoparathyroidism' + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial isolated hypoparathyroidism' SubClassOf 'disease' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypoparathyroidism' + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363310 Label: WD repeat domain 60 - 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'WD repeat domain 60' SubClassOf 'gene' + 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'WD repeat domain 60' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'WD repeat domain 60' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363314 Label: Genetic intestinal polyposis - 'Genetic intestinal polyposis' SubClassOf 'group of disorders' + 'Genetic intestinal polyposis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139187 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_370943 Label: Autism spectrum disorder-epilepsy-arthrogryposis syndrome - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'disease' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Rare disease with autism' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'disease' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_139189 Label: partner and localizer of BRCA2 - 'partner and localizer of BRCA2' SubClassOf 'gene' - 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'partner and localizer of BRCA2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'partner and localizer of BRCA2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_248276 Label: mitogen-activated protein kinase 10 - 'mitogen-activated protein kinase 10' SubClassOf 'Candidate gene tested in' some 'Lennox-Gastaut syndrome' - 'mitogen-activated protein kinase 10' SubClassOf 'gene' + 'mitogen-activated protein kinase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase 10' SubClassOf 'Candidate gene tested in' some 'Lennox-Gastaut syndrome' + 'mitogen-activated protein kinase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319612 Label: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'etiological subtype' - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'etiological subtype' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_261204 Label: 16p11.2p12.2 microduplication syndrome - '16p11.2p12.2 microduplication syndrome' SubClassOf 'malformation syndrome' - '16p11.2p12.2 microduplication syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '16p11.2p12.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' + '16p11.2p12.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '16p11.2p12.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_313884 Label: 12p12.1 microdeletion syndrome - '12p12.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '12p12.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '12p12.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 12' - '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '12p12.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '12p12.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 12' + '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '12p12.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159233 Label: phospholipase C, epsilon 1 - 'phospholipase C, epsilon 1' SubClassOf 'gene' - 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'phospholipase C, epsilon 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'phospholipase C, epsilon 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139197 Label: solute carrier family 35 (CMP-sialic acid transporter), member A1 - 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'gene' - 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A1-CDG' + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q15"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2266 Label: Hypotrichosis-intellectual disability, Lopes type - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'disease' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'disease' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_299652 Label: sorting nexin 10 - 'sorting nexin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' - 'sorting nexin 10' SubClassOf 'gene' + 'sorting nexin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'sorting nexin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sorting nexin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_73245 Label: Spinal muscular atrophy - Dandy-Walker malformation - cataracts - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'malformation syndrome' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'malformation syndrome' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' Class: http://www.orpha.net/ORDO/Orphanet_73246 Label: Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'malformation syndrome' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'malformation syndrome' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_299657 Label: mitochondrial methionyl-tRNA formyltransferase - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'gene' - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 15' - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 15' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139193 Label: solute carrier family 46 (folate transporter), member 1 - 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'gene' - 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary folate malabsorption' + 'solute carrier family 46 (folate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 46 (folate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary folate malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_2261 Label: Hypospadias - intellectual disability, Goldblatt type - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'malformation syndrome' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'malformation syndrome' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124211 Label: peroxisomal biogenesis factor 5 - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 5' SubClassOf 'gene' - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_2260 Label: Oligomeganephronia - 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oligomeganephronia' SubClassOf 'has_prevalence' some 'Unknown' - 'Oligomeganephronia' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Oligomeganephronia' SubClassOf 'has_inheritance' some 'sporadic' - 'Oligomeganephronia' SubClassOf 'morphological anomaly' + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Oligomeganephronia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oligomeganephronia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Oligomeganephronia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_261222 Label: Distal 16p11.2 microdeletion syndrome - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124215 Label: peroxisomal biogenesis factor 6 - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 6' SubClassOf 'gene' + 'peroxisomal biogenesis factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22-p11"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2269 Label: Ichthyosis - alopecia - eclabion - ectropion - intellectual disability - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'disease' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'disease' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124219 Label: peroxisomal biogenesis factor 7 - 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' - 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 1' - 'peroxisomal biogenesis factor 7' SubClassOf 'gene' + 'peroxisomal biogenesis factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' + 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 1' Class: http://www.orpha.net/ORDO/Orphanet_2268 Label: ICF syndrome - 'ICF syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ICF syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ICF syndrome' SubClassOf 'malformation syndrome' - 'ICF syndrome' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' - 'ICF syndrome' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'ICF syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic agammaglobulinemia' + 'ICF syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ICF syndrome' SubClassOf 'malformation syndrome' + 'ICF syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ICF syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_2267 Label: Ichthyosis-cheek-eyebrow syndrome - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'disease' + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90695 Label: Panhypopituitarism - 'Panhypopituitarism' SubClassOf 'disease' - 'Panhypopituitarism' SubClassOf 'part_of' some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' - 'Panhypopituitarism' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' + 'Panhypopituitarism' SubClassOf 'disease' + 'Panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_212874 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated thyroxine-binding globulin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated thyroxine-binding globulin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_313855 Label: FGFR2-related bent bone dysplasia - 'FGFR2-related bent bone dysplasia' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'FGFR2-related bent bone dysplasia' SubClassOf 'disease' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'FGFR2-related bent bone dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'FGFR2-related bent bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'FGFR2-related bent bone dysplasia' SubClassOf 'disease' + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363300 Label: Genetic intractable diarrhea of infancy - 'Genetic intractable diarrhea of infancy' SubClassOf 'group of disorders' + 'Genetic intractable diarrhea of infancy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370959 Label: Congenital muscular dystrophy with cerebellar involvement - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disease' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_212878 Label: contactin 1 - 'contactin 1' SubClassOf 'gene' - 'contactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lethal myopathy, Compton-North type' + 'contactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lethal myopathy, Compton-North type' + 'contactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'contactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q11-q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_299649 Label: X-ray repair complementing defective repair in Chinese hamster cells 2 - 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'gene' - 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319600 Label: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'part_of' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_313850 Label: Infantile cerebellar-retinal degeneration - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' Class: http://www.orpha.net/ORDO/Orphanet_370953 Label: Congenital muscular dystrophy due to dystroglycanopathy - 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'group of disorders' + 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319605 Label: X-linked mendelian susceptibility to mycobacterial diseases - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'part_of' some 'Mendelian susceptibility to mycobacterial diseases' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139199 Label: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa - 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'gene' - 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dystonia-parkinsonism' + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dystonia-parkinsonism' + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2253 Label: Foveal hypoplasia - presenile cataract - 'Foveal hypoplasia - presenile cataract' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'disease' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Foveal hypoplasia - presenile cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Foveal hypoplasia - presenile cataract' SubClassOf 'disease' + 'Foveal hypoplasia - presenile cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_217335 Label: MACS syndrome - 'MACS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MACS syndrome' SubClassOf 'malformation syndrome' - 'MACS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MACS syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'MACS syndrome' SubClassOf 'malformation syndrome' + 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MACS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MACS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'MACS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2252 Label: Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'malformation syndrome' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'malformation syndrome' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_248293 Label: Rare deficiency anemia - 'Rare deficiency anemia' SubClassOf 'group of disorders' + 'Rare deficiency anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75496 Label: Ehlers-Danlos syndrome, progeroid type - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2255 Label: Pancreatic hypoplasia - diabetes - congenital heart disease - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'disease' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'disease' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_75497 Label: X-linked Ehlers-Danlos syndrome - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'disease' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'disease' + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'X-linked Ehlers-Danlos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_299641 Label: superkiller viralicidic activity 2-like (S. cerevisiae) - 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'gene' - 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2254 Label: Pontocerebellar hypoplasia type 1 - 'Pontocerebellar hypoplasia type 1' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 1' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73230 Label: Ossification anomalies - psychomotor development delay - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'disease' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Thoracic malformation' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ossification anomalies - psychomotor development delay' SubClassOf 'disease' + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_159242 Label: cardiotrophin-like cytokine factor 1 - 'cardiotrophin-like cytokine factor 1' SubClassOf 'gene' - 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' + 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crisponi syndrome' + 'cardiotrophin-like cytokine factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cardiotrophin-like cytokine factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124200 Label: peroxisomal biogenesis factor 16 - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 16' SubClassOf 'gene' - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2251 Label: Thumb deformity - alopecia - pigmentation anomaly - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'malformation syndrome' - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'malformation syndrome' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2250 Label: Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'disease' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'disease' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_261236 Label: 16p13.11 microdeletion syndrome - '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16p13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16p13.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '16p13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16p13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + '16p13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_124202 Label: peroxisomal biogenesis factor 19 - 'peroxisomal biogenesis factor 19' SubClassOf 'gene' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2257 Label: Familial primary pulmonary hypoplasia - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Familial primary pulmonary hypoplasia' SubClassOf 'malformation syndrome' - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Genetic respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124209 Label: peroxisomal biogenesis factor 3 - 'peroxisomal biogenesis factor 3' SubClassOf 'gene' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2256 Label: Fibulo-ulnar hypoplasia - renal anomalies - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'malformation syndrome' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'malformation syndrome' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_124206 Label: peroxisomal biogenesis factor 26 - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 26' SubClassOf 'gene' - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212885 Label: forkhead box P2 - 'forkhead box P2' SubClassOf 'Role in the phenotype of' some '7q31 microdeletion syndrome' - 'forkhead box P2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood apraxia of speech' - 'forkhead box P2' SubClassOf 'gene' + 'forkhead box P2' SubClassOf 'Role in the phenotype of' some '7q31 microdeletion syndrome' + 'forkhead box P2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood apraxia of speech' + 'forkhead box P2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box P2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119005 Label: branched chain keto acid dehydrogenase E1, beta polypeptide - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'gene' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermittent maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermediate maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_261229 Label: 14q11.2 microduplication syndrome - '14q11.2 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 14' - '14q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_73229 Label: Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Basement membrane disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_370968 Label: Congenital muscular dystrophy with intellectual disability - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'disease' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'disease' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_119002 Label: branched chain keto acid dehydrogenase E1, alpha polypeptide - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'gene' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217330 Label: Hyperuricemia - anemia - renal failure - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperuricemia - anemia - renal failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperuricemia - anemia - renal failure' SubClassOf 'disease' + 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_248296 Label: Constitutional deficiency anemia - 'Constitutional deficiency anemia' SubClassOf 'group of disorders' + 'Constitutional deficiency anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119007 Label: B-cell CLL/lymphoma 2 - 'B-cell CLL/lymphoma 2' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' - 'B-cell CLL/lymphoma 2' SubClassOf 'Modifying somatic mutation in' some 'Intravascular large B-cell lymphoma' - 'B-cell CLL/lymphoma 2' SubClassOf 'gene' + 'B-cell CLL/lymphoma 2' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' + 'B-cell CLL/lymphoma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'B-cell CLL/lymphoma 2' SubClassOf 'Modifying somatic mutation in' some 'Intravascular large B-cell lymphoma' + 'B-cell CLL/lymphoma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_212882 Label: cytochrome P450, family 7, subfamily A, polypeptide 1 - 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' - 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_117853 Label: polycystic kidney and hepatic disease 1 (autosomal recessive) - 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive polycystic kidney disease' - 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'gene' + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.2-p12"^^http://www.w3.org/2001/XMLSchema#string + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive polycystic kidney disease' + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_101941 Label: Rare biliary tract disease - 'Rare biliary tract disease' SubClassOf 'group of disorders' + 'Rare biliary tract disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101940 Label: Rare metabolic liver disease - 'Rare metabolic liver disease' SubClassOf 'group of disorders' + 'Rare metabolic liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101943 Label: Rare hepatic and biliary tract tumor - 'Rare hepatic and biliary tract tumor' SubClassOf 'group of disorders' + 'Rare hepatic and biliary tract tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101945 Label: Rare bronchopulmonary tumor - 'Rare bronchopulmonary tumor' SubClassOf 'group of disorders' + 'Rare bronchopulmonary tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101944 Label: Rare pulmonary disease - 'Rare pulmonary disease' SubClassOf 'group of disorders' + 'Rare pulmonary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119092 Label: biotinidase - 'biotinidase' SubClassOf 'gene' - 'biotinidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotinidase deficiency' + 'biotinidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'biotinidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'biotinidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotinidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_101936 Label: Rare gastroesophageal disease - 'Rare gastroesophageal disease' SubClassOf 'group of disorders' + 'Rare gastroesophageal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101937 Label: Rare pancreatic disease - 'Rare pancreatic disease' SubClassOf 'group of disorders' + 'Rare pancreatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101938 Label: Rare vascular liver disease - 'Rare vascular liver disease' SubClassOf 'group of disorders' + 'Rare vascular liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101939 Label: Rare parenchymatous liver disease - 'Rare parenchymatous liver disease' SubClassOf 'group of disorders' + 'Rare parenchymatous liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123144 Label: microtubule-associated protein tau - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - pure akinesia with gait freezing' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'microtubule-associated protein tau' SubClassOf 'gene' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - parkinsonism' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Classical progressive supranuclear palsy' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - corticobasal syndrome' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - progressive non fluent aphasia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'microtubule-associated protein tau' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'microtubule-associated protein tau' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - pure akinesia with gait freezing' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - parkinsonism' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Classical progressive supranuclear palsy' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - corticobasal syndrome' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - progressive non fluent aphasia' Class: http://www.orpha.net/ORDO/Orphanet_165577 Label: hes family bHLH transcription factor 7 - 'hes family bHLH transcription factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' - 'hes family bHLH transcription factor 7' SubClassOf 'gene' + 'hes family bHLH transcription factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'hes family bHLH transcription factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hes family bHLH transcription factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_123140 Label: mitogen-activated protein kinase kinase 2 - 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' - 'mitogen-activated protein kinase kinase 2' SubClassOf 'gene' + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' + 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119094 Label: Bruton agammaglobulinemia tyrosine kinase - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked agammaglobulinemia' - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'gene' + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.33-q22"^^http://www.w3.org/2001/XMLSchema#string + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked agammaglobulinemia' + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_117861 Label: pyruvate kinase, liver and RBC - 'pyruvate kinase, liver and RBC' SubClassOf 'gene' - 'pyruvate kinase, liver and RBC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to red cell pyruvate kinase deficiency' + 'pyruvate kinase, liver and RBC' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate kinase, liver and RBC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to red cell pyruvate kinase deficiency' + 'pyruvate kinase, liver and RBC' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117868 Label: plakophilin 1 - 'plakophilin 1' SubClassOf 'gene' - 'plakophilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex due to plakophilin deficiency' + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Epidermolysis bullosa simplex due to plakophilin deficiency' + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101934 Label: Genetic cardiac rhythm disease - 'Genetic cardiac rhythm disease' SubClassOf 'group of disorders' + 'Genetic cardiac rhythm disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101932 Label: Anomaly of the mitral subvalvular apparatus - 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'morphological anomaly' + 'Anomaly of the mitral subvalvular apparatus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123135 Label: mitogen-activated protein kinase kinase 1 - 'mitogen-activated protein kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'mitogen-activated protein kinase kinase 1' SubClassOf 'gene' + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.1-q22.33"^^http://www.w3.org/2001/XMLSchema#string + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123133 Label: monoamine oxidase A - 'monoamine oxidase A' SubClassOf 'gene' - 'monoamine oxidase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monoamine oxidase A deficiency' + 'monoamine oxidase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monoamine oxidase A deficiency' + 'monoamine oxidase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.3"^^http://www.w3.org/2001/XMLSchema#string + 'monoamine oxidase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97598 Label: Congenital renal artery stenosis - 'Congenital renal artery stenosis' SubClassOf 'disease' - 'Congenital renal artery stenosis' SubClassOf 'part_of' some 'Rare cause of hypertension' + 'Congenital renal artery stenosis' SubClassOf 'disease' + 'Congenital renal artery stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_123131 Label: mannosidase, beta A, lysosomal - 'mannosidase, beta A, lysosomal' SubClassOf 'gene' - 'mannosidase, beta A, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-mannosidosis' + 'mannosidase, beta A, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-mannosidosis' + 'mannosidase, beta A, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'mannosidase, beta A, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97593 Label: Pseudohypoparathyroidism - 'Pseudohypoparathyroidism' SubClassOf 'group of disorders' + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pseudohypoparathyroidism' SubClassOf 'group of disorders' + 'Pseudohypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudohypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324930 Label: Granulomatous autoinflammatory syndrome - 'Granulomatous autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Granulomatous autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324933 Label: Mixed autoinflammatory and autoimmune syndrome - 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf 'group of disorders' + 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304764 Label: spermatogenesis and oogenesis specific basic helix-loop-helix 1 - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'gene' - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324936 Label: Unclassified autoinflammatory syndrome - 'Unclassified autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Unclassified autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117832 Label: paired-like homeodomain 2 - 'paired-like homeodomain 2' SubClassOf 'gene' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ring dermoid of cornea' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ring dermoid of cornea' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' Class: http://www.orpha.net/ORDO/Orphanet_101960 Label: Genetic chronic primary adrenal insufficiency - 'Genetic chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Genetic chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101963 Label: Acquired chronic primary adrenal insufficiency - 'Acquired chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Acquired chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123124 Label: leucine-rich pentatricopeptide repeat containing - 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' - 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'gene' + 'leucine-rich pentatricopeptide repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' + 'leucine-rich pentatricopeptide repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101957 Label: Pituitary deficiency - 'Pituitary deficiency' SubClassOf 'group of disorders' + 'Pituitary deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123129 Label: leucine rich repeat containing 8 family, member A - 'leucine rich repeat containing 8 family, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'leucine rich repeat containing 8 family, member A' SubClassOf 'gene' + 'leucine rich repeat containing 8 family, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine rich repeat containing 8 family, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'leucine rich repeat containing 8 family, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101958 Label: Primary adrenal insufficiency - 'Primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101959 Label: Chronic primary adrenal insufficiency - 'Chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Chronic primary adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic primary adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic primary adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Chronic primary adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324927 Label: Pyogenic autoinflammatory syndrome - 'Pyogenic autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Pyogenic autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_366823 Label: paired box 5 - 'paired box 5' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'paired box 5' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'paired box 5' SubClassOf 'gene' + 'paired box 5' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'paired box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 5' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_324924 Label: Hereditary periodic fever syndrome - 'Hereditary periodic fever syndrome' SubClassOf 'group of disorders' + 'Hereditary periodic fever syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117846 Label: polycystic kidney disease 1 (autosomal dominant) - 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'gene' - 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_101956 Label: Polyendocrinopathy - 'Polyendocrinopathy' SubClassOf 'group of disorders' + 'Polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101955 Label: Rare thyroid disease - 'Rare thyroid disease' SubClassOf 'group of disorders' + 'Rare thyroid disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117844 Label: paired-like homeodomain 3 - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' - 'paired-like homeodomain 3' SubClassOf 'gene' - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-glaucoma' + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'paired-like homeodomain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeodomain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_101954 Label: Rare adrenal disease - 'Rare adrenal disease' SubClassOf 'group of disorders' + 'Rare adrenal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101953 Label: Rare dyslipidemia - 'Rare dyslipidemia' SubClassOf 'group of disorders' + 'Rare dyslipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101952 Label: Rare diabetes mellitus - 'Rare diabetes mellitus' SubClassOf 'group of disorders' + 'Rare diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101950 Label: Rare eye tumor - 'Rare eye tumor' SubClassOf 'group of disorders' + 'Rare eye tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123115 Label: low density lipoprotein receptor-related protein 5 - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteosclerosis, Worth type' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteopetrosis type 1' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperostosis corticalis generalisata' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerosis-developmental delay-craniosynostosis syndrome' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteoporosis - pseudoglioma' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'gene' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteosclerosis, Worth type' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteoporosis - pseudoglioma' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autosomal dominant osteopetrosis type 1' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperostosis corticalis generalisata' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerosis-developmental delay-craniosynostosis syndrome' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' Class: http://www.orpha.net/ORDO/Orphanet_101949 Label: Rare acquired eye disease - 'Rare acquired eye disease' SubClassOf 'group of disorders' + 'Rare acquired eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_267365 Label: ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit - 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'gene' - 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123112 Label: lipoprotein lipase - 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial lipoprotein lipase deficiency' - 'lipoprotein lipase' SubClassOf 'gene' - 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial lipoprotein lipase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_232171 Label: transmembrane protein 126A - 'transmembrane protein 126A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive optic atrophy, OPA7 type' - 'transmembrane protein 126A' SubClassOf 'gene' + 'transmembrane protein 126A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 126A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 126A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive optic atrophy, OPA7 type' Class: http://www.orpha.net/ORDO/Orphanet_101987 Label: Constitutional neutropenia - 'Constitutional neutropenia' SubClassOf 'group of disorders' + 'Constitutional neutropenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101988 Label: Primary immunodeficiency due to a defect in innate immunity - 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'group of disorders' + 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168816 Label: Peritoneal cystic mesothelioma - 'Peritoneal cystic mesothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Peritoneal cystic mesothelioma' SubClassOf 'disease' - 'Peritoneal cystic mesothelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Peritoneal cystic mesothelioma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' + 'Peritoneal cystic mesothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Peritoneal cystic mesothelioma' SubClassOf 'disease' + 'Peritoneal cystic mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Peritoneal cystic mesothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_117898 Label: promyelocytic leukemia - 'promyelocytic leukemia' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'promyelocytic leukemia' SubClassOf 'gene' + 'promyelocytic leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'promyelocytic leukemia' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'promyelocytic leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_285739 Label: testis specific protein, Y-linked 1 - 'testis specific protein, Y-linked 1' SubClassOf 'Modifying germline mutation in' some 'Partial chromosome Y deletion' - 'testis specific protein, Y-linked 1' SubClassOf 'Role in the phenotype of' some '45,X/46,XY mixed gonadal dysgenesis' - 'testis specific protein, Y-linked 1' SubClassOf 'gene' + 'testis specific protein, Y-linked 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.2"^^http://www.w3.org/2001/XMLSchema#string + 'testis specific protein, Y-linked 1' SubClassOf 'Modifying germline mutation in' some 'Partial chromosome Y deletion' + 'testis specific protein, Y-linked 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117892 Label: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf 'gene' - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bruck syndrome' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bruck syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90636 Label: Autosomal recessive non-syndromic sensorineural deafness type DFNB - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'etiological subtype' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'etiological subtype' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_117894 Label: proteolipid protein 1 - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia type 2' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, transitional form' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease in female carriers' - 'proteolipid protein 1' SubClassOf 'gene' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Null syndrome' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, connatal form' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, classic form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia type 2' + 'proteolipid protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22"^^http://www.w3.org/2001/XMLSchema#string + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, transitional form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease in female carriers' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Null syndrome' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, connatal form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, classic form' + 'proteolipid protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90635 Label: Autosomal dominant non-syndromic sensorineural deafness type DFNA - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'etiological subtype' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119057 Label: bone morphogenetic protein receptor, type II (serine/threonine kinase) - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary venoocclusive disease' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'gene' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Heritable pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Candidate gene tested in' some 'Pulmonary venoocclusive disease' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159298 Label: transient receptor potential cation channel, subfamily M, member 7 - 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' - 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119053 Label: bone morphogenetic protein receptor, type IB - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Grebe type' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'gene' + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Grebe type' + 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' + 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q23-q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123109 Label: lipin 2 - 'lipin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Majeed syndrome' - 'lipin 2' SubClassOf 'gene' + 'lipin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p"^^http://www.w3.org/2001/XMLSchema#string + 'lipin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Majeed syndrome' + 'lipin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123102 Label: LIM homeobox transcription factor 1, beta - 'LIM homeobox transcription factor 1, beta' SubClassOf 'gene' - 'LIM homeobox transcription factor 1, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella syndrome' + 'LIM homeobox transcription factor 1, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella syndrome' + 'LIM homeobox transcription factor 1, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox transcription factor 1, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123105 Label: loricrin - 'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia' - 'loricrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans with ichthyosis' - 'loricrin' SubClassOf 'gene' + 'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia' + 'loricrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'loricrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'loricrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans with ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_90642 Label: Syndromic genetic deafness - 'Syndromic genetic deafness' SubClassOf 'group of disorders' + 'Syndromic genetic deafness' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101972 Label: Combined T and B cell immunodeficiency - 'Combined T and B cell immunodeficiency' SubClassOf 'group of disorders' + 'Combined T and B cell immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101977 Label: Immunodeficiency predominantly affecting antibody production - 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'group of disorders' + 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280200 Label: Microform holoprosencephaly - 'Microform holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microform holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Microform holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Microform holoprosencephaly' SubClassOf 'clinical subtype' + 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microform holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Microform holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Microform holoprosencephaly' SubClassOf 'clinical subtype' + 'Microform holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_90641 Label: Mitochondrial non-syndromic sensorineural deafness - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'etiological subtype' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'etiological subtype' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_168829 Label: Primary peritoneal carcinoma - 'Primary peritoneal carcinoma' SubClassOf 'disease' - 'Primary peritoneal carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary peritoneal carcinoma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' - 'Primary peritoneal carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary peritoneal carcinoma' SubClassOf 'disease' + 'Primary peritoneal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' + 'Primary peritoneal carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary peritoneal carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_232182 Label: dipeptidyl-peptidase 6 - 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant microcephaly' - 'dipeptidyl-peptidase 6' SubClassOf 'gene' - 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.2"^^http://www.w3.org/2001/XMLSchema#string + 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_90647 Label: Jervell and Lange-Nielsen syndrome - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'part_of' some 'Familial long QT syndrome' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial long QT syndrome' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Jervell and Lange-Nielsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90646 Label: Deafness - hypogonadism - 'Deafness - hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness - hypogonadism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Deafness - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label: breast cancer 1, early onset - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' - 'breast cancer 1, early onset' SubClassOf 'gene' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Primary peritoneal carcinoma' + 'breast cancer 1, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Primary peritoneal carcinoma' + 'breast cancer 1, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363396 Label: High myopia-sensorineural deafness syndrome - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'disease' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'High myopia-sensorineural deafness syndrome' SubClassOf 'disease' + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'High myopia-sensorineural deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119064 Label: 2,3-bisphosphoglycerate mutase - '2,3-bisphosphoglycerate mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' - '2,3-bisphosphoglycerate mutase' SubClassOf 'gene' + '2,3-bisphosphoglycerate mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' + '2,3-bisphosphoglycerate mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '2,3-bisphosphoglycerate mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119066 Label: B-Raf proto-oncogene, serine/threonine kinase - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hairy cell leukemia' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'gene' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hashimoto-Pritzker syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hairy cell leukemia' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hashimoto-Pritzker syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_117877 Label: plectin - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with muscular dystrophy' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Ogna type' - 'plectin' SubClassOf 'gene' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' + 'plectin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with muscular dystrophy' + 'plectin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Ogna type' + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' Class: http://www.orpha.net/ORDO/Orphanet_280210 Label: Pelizaeus-Merzbacher disease, connatal form - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_232194 Label: alanyl-tRNA synthetase - 'alanyl-tRNA synthetase' SubClassOf 'gene' - 'alanyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' + 'alanyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' + 'alanyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324972 Label: MAGIC syndrome - 'MAGIC syndrome' SubClassOf 'disease' - 'MAGIC syndrome' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' + 'MAGIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' + 'MAGIC syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324977 Label: Proteasome disability syndrome - 'Proteasome disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Proteasome disability syndrome' SubClassOf 'disease' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Proteasome disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Proteasome disability syndrome' SubClassOf 'disease' + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proteasome disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proteasome disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_117871 Label: plakophilin 2 - 'plakophilin 2' SubClassOf 'gene' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'plakophilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plakophilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11"^^http://www.w3.org/2001/XMLSchema#string + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_117873 Label: phospholipase A2, group VI (cytosolic, calcium-independent) - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset dystonia-parkinsonism' - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'gene' - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile neuroaxonal dystrophy' + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset dystonia-parkinsonism' + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile neuroaxonal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label: breast cancer 2, early onset - 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' - 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' - 'breast cancer 2, early onset' SubClassOf 'gene' + 'breast cancer 2, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' + 'breast cancer 2, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_280205 Label: Laryngo-tracheo-esophageal cleft type 0 - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'has_prevalence' some 'Unknown' + 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_168803 Label: Primary peritoneal tumor - 'Primary peritoneal tumor' SubClassOf 'group of disorders' + 'Primary peritoneal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101997 Label: Primary immunodeficiency - 'Primary immunodeficiency' SubClassOf 'group of disorders' + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf 'group of disorders' + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_168807 Label: Primary malignant peritoneal tumor - 'Primary malignant peritoneal tumor' SubClassOf 'group of disorders' + 'Primary malignant peritoneal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117888 Label: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic type' - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'gene' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic type' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101998 Label: Rare epilepsy - 'Rare epilepsy' SubClassOf 'group of disorders' + 'Rare epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101995 Label: Periodic fever syndrome - 'Periodic fever syndrome' SubClassOf 'group of disorders' + 'Periodic fever syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90625 Label: X-linked non-syndromic sensorineural deafness type DFN - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_319675 Label: Microcephalic primordial dwarfism, Dauber type - 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Dauber type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_117882 Label: pleckstrin homology domain containing, family G (with RhoGef domain) member 4 - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Candidate gene tested in' some 'Spinocerebellar ataxia type 4' - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'gene' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Candidate gene tested in' some 'Spinocerebellar ataxia type 4' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101992 Label: Immunodeficiency due to a complement cascade protein anomaly - 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'group of disorders' + 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324964 Label: Chronic recurrent multifocal osteomyelitis - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'disease' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_319678 Label: Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117886 Label: plasminogen - 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ligneous conjunctivitis' - 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplasminogenemia' - 'plasminogen' SubClassOf 'gene' + 'plasminogen' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plasminogen' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q26"^^http://www.w3.org/2001/XMLSchema#string + 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ligneous conjunctivitis' + 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplasminogenemia' Class: http://www.orpha.net/ORDO/Orphanet_119085 Label: Berardinelli-Seip congenital lipodystrophy 2 (seipin) - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodegenerative syndrome with lipodystrophy' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'gene' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 17' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodegenerative syndrome with lipodystrophy' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 17' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_319671 Label: Microcephalic primordial dwarfism, Alazami type - 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'malformation syndrome' - 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Alazami type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_119089 Label: barttin CLCNK-type chloride channel accessory beta subunit - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'gene' - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' Class: http://www.orpha.net/ORDO/Orphanet_280219 Label: Pelizaeus-Merzbacher disease, classic form - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_168811 Label: Malignant peritoneal mesothelioma - 'Malignant peritoneal mesothelioma' SubClassOf 'disease' - 'Malignant peritoneal mesothelioma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf 'disease' + 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' + 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_254504 Label: Inhalational botulism - 'Inhalational botulism' SubClassOf 'part_of' some 'Botulism' - 'Inhalational botulism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Inhalational botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inhalational botulism' SubClassOf 'clinical subtype' + 'Inhalational botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Inhalational botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inhalational botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' + 'Inhalational botulism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119080 Label: BRCA1 interacting protein C-terminal helicase 1 - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'gene' - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_180151 Label: Rare vaginal malformation - 'Rare vaginal malformation' SubClassOf 'group of disorders' + 'Rare vaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377025 Label: cyclin-dependent kinase 6 - 'cyclin-dependent kinase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'cyclin-dependent kinase 6' SubClassOf 'gene' + 'cyclin-dependent kinase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_3380 Label: Trisomy 18 - 'Trisomy 18' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 18' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 18' SubClassOf 'part_of' some 'Eyebrow hypertrophy' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Trisomy 18' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Trisomy 18' SubClassOf 'malformation syndrome' - 'Trisomy 18' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Trisomy 18' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow hypertrophy' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 18' SubClassOf 'malformation syndrome' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295163 Label: Postaxial polydactyly type A, unilateral - 'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype' - 'Postaxial polydactyly type A, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_180154 Label: Septate vagina - 'Septate vagina' SubClassOf 'part_of' some 'Rare vaginal malformation' - 'Septate vagina' SubClassOf 'morphological anomaly' + 'Septate vagina' SubClassOf 'morphological anomaly' + 'Septate vagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_324569 Label: Pontocerebellar hypoplasia type 8 - 'Pontocerebellar hypoplasia type 8' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 8' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 8' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295161 Label: Polysyndactyly, bilateral - 'Polysyndactyly, bilateral' SubClassOf 'part_of' some 'Polysyndactyly' - 'Polysyndactyly, bilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysyndactyly' + 'Polysyndactyly, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295167 Label: Postaxial polydactyly type B, unilateral - 'Postaxial polydactyly type B, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B' - 'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type B, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type B' + 'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295165 Label: Postaxial polydactyly type A, bilateral - 'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype' - 'Postaxial polydactyly type A, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type A, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_324561 Label: Hypopigmentation-punctate palmoplantar keratoderma syndrome - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295169 Label: Postaxial polydactyly type B, bilateral - 'Postaxial polydactyly type B, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B' - 'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type B, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type B' + 'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376411 Label: vacuolar protein sorting 45 homolog (S. cerevisiae) - 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'gene' - 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections-myelofibrosis-nephromegaly syndrome' + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections-myelofibrosis-nephromegaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1248 Label: Maxillonasal dysplasia - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Maxillonasal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Maxillonasal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Maxillonasal dysplasia' SubClassOf 'malformation syndrome' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Maxillonasal dysplasia' SubClassOf 'malformation syndrome' + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Maxillonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_217093 Label: Mucopolysaccharidosis type 2, attenuated form - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 2' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 2' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1249 Label: Binswanger disease - 'Binswanger disease' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Binswanger disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Binswanger disease' SubClassOf 'part_of' some 'Cerebrovascular dementia' - 'Binswanger disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Binswanger disease' SubClassOf 'disease' + 'Binswanger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Binswanger disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Binswanger disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Binswanger disease' SubClassOf 'disease' + 'Binswanger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_122300 Label: glutathione synthetase - 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency with 5-oxoprolinuria' - 'glutathione synthetase' SubClassOf 'gene' - 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency without 5-oxoprolinuria' + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Glutathione synthetase deficiency with 5-oxoprolinuria' + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency without 5-oxoprolinuria' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label: Tuberculosis - 'Tuberculosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Tuberculosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' - 'Tuberculosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Tuberculosis' SubClassOf 'disease' - 'Tuberculosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C032 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "47.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C032 value "23.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C032 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "139.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409996) and (http://www.orpha.net/ORDO/Orphanet_C032 value "90.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C032 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "75.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C032 value "993.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C032 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C032 value "181.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410119) and (http://www.orpha.net/ORDO/Orphanet_C032 value "59.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C032 value "89.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C032 value "97.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "10.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C032 value "49.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C032 value "101.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168778 Label: Rare pervasive developmental disorder - 'Rare pervasive developmental disorder' SubClassOf 'group of disorders' + 'Rare pervasive developmental disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399882 Label: Female infertility due to an implantation defect - 'Female infertility due to an implantation defect' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_320401 Label: Autosomal recessive spastic paraplegia type 44 - 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 44' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_122302 Label: general transcription factor IIH, polypeptide 5 - 'general transcription factor IIH, polypeptide 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' - 'general transcription factor IIH, polypeptide 5' SubClassOf 'gene' + 'general transcription factor IIH, polypeptide 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'general transcription factor IIH, polypeptide 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'general transcription factor IIH, polypeptide 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1246 Label: Brachydactyly - nystagmus - cerebellar ataxia - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1247 Label: Schistosomiasis - 'Schistosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Schistosomiasis' SubClassOf 'disease' - 'Schistosomiasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schistosomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Schistosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Schistosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Schistosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schistosomiasis' SubClassOf 'disease' + 'Schistosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Schistosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Schistosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3383 Label: Humerus trochlea aplasia - 'Humerus trochlea aplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Humerus trochlea aplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1240 Label: Metaphyseal acroscyphodysplasia - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'disease' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Metaphyseal acroscyphodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metaphyseal acroscyphodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal acroscyphodysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3384 Label: Truncus arteriosus - 'Truncus arteriosus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Truncus arteriosus' SubClassOf 'morphological anomaly' - 'Truncus arteriosus' SubClassOf 'part_of' some 'Conotruncal heart malformations' - 'Truncus arteriosus' SubClassOf 'has_prevalence' some 'Unknown' - 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'morphological anomaly' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1241 Label: Bencze syndrome - 'Bencze syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Bencze syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Bencze syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bencze syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Bencze syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Bencze syndrome' SubClassOf 'malformation syndrome' - 'Bencze syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Bencze syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Bencze syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bencze syndrome' SubClassOf 'malformation syndrome' + 'Bencze syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_180148 Label: Syndromic uterovaginal malformation - 'Syndromic uterovaginal malformation' SubClassOf 'group of disorders' + 'Syndromic uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180145 Label: Uterine cervical aplasia and agenesis - 'Uterine cervical aplasia and agenesis' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Uterine cervical aplasia and agenesis' SubClassOf 'morphological anomaly' - 'Uterine cervical aplasia and agenesis' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' + 'Uterine cervical aplasia and agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1243 Label: Best vitelliform macular dystrophy - 'Best vitelliform macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Best vitelliform macular dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Best vitelliform macular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Best vitelliform macular dystrophy' SubClassOf 'disease' + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Best vitelliform macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Best vitelliform macular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3387 Label: Isolated anterior cervical hypertrichosis - 'Isolated anterior cervical hypertrichosis' SubClassOf 'disease' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'part_of' some 'Hypertrichosis' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated anterior cervical hypertrichosis' SubClassOf 'disease' + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated anterior cervical hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Isolated anterior cervical hypertrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3388 Label: Neural tube defect - 'Neural tube defect' SubClassOf 'group of disorders' + 'Neural tube defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_392281 Label: tyrosine kinase, non-receptor, 2 - 'tyrosine kinase, non-receptor, 2' SubClassOf 'gene' - 'tyrosine kinase, non-receptor, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' + 'tyrosine kinase, non-receptor, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosine kinase, non-receptor, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' + 'tyrosine kinase, non-receptor, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3385 Label: African trypanosomiasis - 'African trypanosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'African trypanosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'African trypanosomiasis' SubClassOf 'disease' - 'African trypanosomiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'African trypanosomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'African trypanosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'African trypanosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'African trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'African trypanosomiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3386 Label: American trypanosomiasis - 'American trypanosomiasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'American trypanosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'American trypanosomiasis' SubClassOf 'disease' - 'American trypanosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'American trypanosomiasis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'American trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf 'disease' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "95.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_180142 Label: Agenesis and aplasia of uterine body - 'Agenesis and aplasia of uterine body' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Agenesis and aplasia of uterine body' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' - 'Agenesis and aplasia of uterine body' SubClassOf 'morphological anomaly' + 'Agenesis and aplasia of uterine body' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' + 'Agenesis and aplasia of uterine body' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' + 'Agenesis and aplasia of uterine body' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295171 Label: Central polydactyly of fingers, unilateral - 'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype' - 'Central polydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3390 Label: Proximal tubulopathy - diabetes mellitus - cerebellar ataxia - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_295173 Label: Central polydactyly of fingers, bilateral - 'Central polydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers' - 'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295175 Label: Preaxial polydactyly of toes, unilateral - 'Preaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' - 'Preaxial polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Preaxial polydactyly of toes' + 'Preaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Preaxial polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_280293 Label: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_prevalence' some 'Unknown' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324575 Label: Hyperinsulinism due to HNF1A deficiency - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320406 Label: Spastic paraplegia-optic atrophy-neuropathy syndrome - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'disease' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'disease' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_295177 Label: Preaxial polydactyly of toes, bilateral - 'Preaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Preaxial polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Preaxial polydactyly of toes' + 'Preaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Preaxial polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295179 Label: Postaxial polydactyly of toes, unilateral - 'Postaxial polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly of toes' - 'Postaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of toes' + 'Postaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376401 Label: trafficking protein particle complex 11 - 'trafficking protein particle complex 11' SubClassOf 'gene' - 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' - 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2S' + 'trafficking protein particle complex 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2S' + 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' + 'trafficking protein particle complex 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_392296 Label: sideroflexin 4 - 'sideroflexin 4' SubClassOf 'gene' - 'sideroflexin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_320411 Label: Autosomal recessive spastic paraplegia type 56 - 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 56' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1259 Label: Blepharoptosis - myopia - ectopia lentis - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'part_of' some 'Lens position anomaly' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'disease' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'disease' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122310 Label: general transcription factor IIi - 'general transcription factor IIi' SubClassOf 'gene' - 'general transcription factor IIi' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'general transcription factor IIi' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'general transcription factor IIi' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'general transcription factor IIi' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1258 Label: Blepharoptosis - cleft palate - ectrodactyly - dental anomalies - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'malformation syndrome' - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'malformation syndrome' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1256 Label: Blepharophimosis - radioulnar synostosis - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Ptosis' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'malformation syndrome' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Blepharophimosis - radioulnar synostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217085 Label: Mucopolysaccharidosis type 2, severe form - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 2' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mucopolysaccharidosis type 2, severe form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 2' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3392 Label: Tularemia - 'Tularemia' SubClassOf 'disease' - 'Tularemia' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Tularemia' SubClassOf 'disease' + 'Tularemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_1253 Label: Ascher syndrome - 'Ascher syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ascher syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ascher syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ascher syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ascher syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ascher syndrome' SubClassOf 'malformation syndrome' - 'Ascher syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf 'malformation syndrome' + 'Ascher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ascher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_180134 Label: Bicornuate uterus - 'Bicornuate uterus' SubClassOf 'group of disorders' + 'Bicornuate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399877 Label: Female infertility due to gonadal dysgenesis - 'Female infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' + 'Female infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3394 Label: Soft tissue sarcoma - 'Soft tissue sarcoma' SubClassOf 'group of disorders' + 'Soft tissue sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Soft tissue sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Soft tissue sarcoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1252 Label: Blepharonasofacial malformation syndrome - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'malformation syndrome' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharonasofacial malformation syndrome' SubClassOf 'malformation syndrome' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_180139 Label: Uterine hypoplasia - 'Uterine hypoplasia' SubClassOf 'morphological anomaly' - 'Uterine hypoplasia' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' + 'Uterine hypoplasia' SubClassOf 'morphological anomaly' + 'Uterine hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_392290 Label: plastin 3 - 'plastin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked osteoporosis with fractures' - 'plastin 3' SubClassOf 'gene' + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked osteoporosis with fractures' + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3398 Label: Thymic epithelial neoplasm - 'Thymic epithelial neoplasm' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thymic epithelial neoplasm' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thymic epithelial neoplasm' SubClassOf 'group of disorders' + 'Thymic epithelial neoplasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymic epithelial neoplasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymic epithelial neoplasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thymic epithelial neoplasm' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3399 Label: Germ cell tumor - 'Germ cell tumor' SubClassOf 'group of disorders' + 'Germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295185 Label: Central polydactyly of toes, bilateral - 'Central polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Central polydactyly of toes' - 'Central polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295183 Label: Central polydactyly of toes, unilateral - 'Central polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Central polydactyly of toes' - 'Central polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of toes' + 'Central polydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295181 Label: Postaxial polydactyly of toes, bilateral - 'Postaxial polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly of toes' - 'Postaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of toes' + 'Postaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_377040 Label: protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A - 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf 'gene' + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital fiber-type disproportion myopathy' + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p14-p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280288 Label: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_325713 Label: Genetic 46,XY disorder of sex development of endocrine origin - 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' + 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324540 Label: Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'malformation syndrome' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'malformation syndrome' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295189 Label: Zygodactyly type 2 - 'Zygodactyly type 2' SubClassOf 'part_of' some 'Syndactyly type 1' - 'Zygodactyly type 2' SubClassOf 'clinical subtype' + 'Zygodactyly type 2' SubClassOf 'clinical subtype' + 'Zygodactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_280282 Label: Pelizaeus-Merzbacher-like disease due to GJC2 mutation - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122319 Label: GTF2I repeat domain containing 1 - 'GTF2I repeat domain containing 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'GTF2I repeat domain containing 1' SubClassOf 'gene' + 'GTF2I repeat domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'GTF2I repeat domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GTF2I repeat domain containing 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_229720 Label: Syndromic agammaglobulinemia - 'Syndromic agammaglobulinemia' SubClassOf 'group of disorders' + 'Syndromic agammaglobulinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295187 Label: Zygodactyly type 1 - 'Zygodactyly type 1' SubClassOf 'part_of' some 'Syndactyly type 1' - 'Zygodactyly type 1' SubClassOf 'clinical subtype' + 'Zygodactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' + 'Zygodactyly type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_401597 Label: TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa - 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' - 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'gene' + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.1"^^http://www.w3.org/2001/XMLSchema#string + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1223 Label: Balantidiasis - 'Balantidiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Balantidiasis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Balantidiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Balantidiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Balantidiasis' SubClassOf 'disease' + 'Balantidiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Balantidiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Balantidiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Balantidiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217074 Label: Pancreatic carcinoma - 'Pancreatic carcinoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic tumor' - 'Pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pancreatic carcinoma' SubClassOf 'disease' - 'Pancreatic carcinoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf 'disease' + 'Pancreatic carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_168796 Label: Heart-hand syndrome, Slovenian type - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome, Slovenian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Heart-hand syndrome, Slovenian type' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35909 Label: Combined deficiency of factor V and factor VIII - 'Combined deficiency of factor V and factor VIII' SubClassOf 'disease' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Combined deficiency of factor V and factor VIII' SubClassOf 'disease' + 'Combined deficiency of factor V and factor VIII' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined deficiency of factor V and factor VIII' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Combined deficiency of factor V and factor VIII' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_1225 Label: Baller-Gerold syndrome - 'Baller-Gerold syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Baller-Gerold syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Baller-Gerold syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Baller-Gerold syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Baller-Gerold syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Baller-Gerold syndrome' SubClassOf 'malformation syndrome' + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Baller-Gerold syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Baller-Gerold syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Baller-Gerold syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Baller-Gerold syndrome' SubClassOf 'malformation syndrome' + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_3369 Label: Trigonocephaly - short stature - developmental delay - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' + 'Trigonocephaly - short stature - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1226 Label: Bamforth-Lazarus syndrome - 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bamforth-Lazarus syndrome' SubClassOf 'malformation syndrome' - 'Bamforth-Lazarus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bamforth-Lazarus syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Bamforth-Lazarus syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Bamforth-Lazarus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bamforth-Lazarus syndrome' SubClassOf 'malformation syndrome' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bamforth-Lazarus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_217071 Label: Non-familial renal cell carcinoma - 'Non-familial renal cell carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Non-familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Non-familial renal cell carcinoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Non-familial renal cell carcinoma' SubClassOf 'part_of' some 'Rare renal tumor' - 'Non-familial renal cell carcinoma' SubClassOf 'disease' + 'Non-familial renal cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-familial renal cell carcinoma' SubClassOf 'disease' + 'Non-familial renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tumor' + 'Non-familial renal cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Non-familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1227 Label: Bangstad syndrome - 'Bangstad syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Bangstad syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bangstad syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bangstad syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bangstad syndrome' SubClassOf 'malformation syndrome' - 'Bangstad syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Bangstad syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bangstad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bangstad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bangstad syndrome' SubClassOf 'malformation syndrome' + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_1228 Label: Banki syndrome - 'Banki syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Banki syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Banki syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Banki syndrome' SubClassOf 'malformation syndrome' - 'Banki syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Banki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Banki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Banki syndrome' SubClassOf 'malformation syndrome' + 'Banki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Banki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3368 Label: Trigonocephaly - bifid nose - acral anomalies - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'malformation syndrome' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1229 Label: Congenital intrauterine infection-like syndrome - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'malformation syndrome' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital intrauterine infection-like syndrome' SubClassOf 'malformation syndrome' + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Congenital intrauterine infection-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3365 Label: Trigonocephaly - broad thumbs - 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trigonocephaly - broad thumbs' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Trigonocephaly - broad thumbs' SubClassOf 'malformation syndrome' - 'Trigonocephaly - broad thumbs' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trigonocephaly - broad thumbs' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trigonocephaly - broad thumbs' SubClassOf 'malformation syndrome' + 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trigonocephaly - broad thumbs' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trigonocephaly - broad thumbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Trigonocephaly - broad thumbs' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180129 Label: Subtotal septate uterus - 'Subtotal septate uterus' SubClassOf 'morphological anomaly' - 'Subtotal septate uterus' SubClassOf 'part_of' some 'Septate uterus' + 'Subtotal septate uterus' SubClassOf 'morphological anomaly' + 'Subtotal septate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_3366 Label: Isolated trigonocephaly - 'Isolated trigonocephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated trigonocephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated trigonocephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated trigonocephaly' SubClassOf 'morphological anomaly' + 'Isolated trigonocephaly' SubClassOf 'morphological anomaly' + 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated trigonocephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3363 Label: Trichomegaly - retina pigmentary degeneration - dwarfism - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'malformation syndrome' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'malformation syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3361 Label: Trichodysplasia - xeroderma - 'Trichodysplasia - xeroderma' SubClassOf 'malformation syndrome' - 'Trichodysplasia - xeroderma' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Trichodysplasia - xeroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Trichodysplasia - xeroderma' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3362 Label: Trichomegaly - cataract - hereditary spherocytosis - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'malformation syndrome' - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'malformation syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'obsolete_class' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180126 Label: Total septate uterus - 'Total septate uterus' SubClassOf 'part_of' some 'Septate uterus' - 'Total septate uterus' SubClassOf 'morphological anomaly' + 'Total septate uterus' SubClassOf 'morphological anomaly' + 'Total septate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_1221 Label: Cheilitis glandularis - 'Cheilitis glandularis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cheilitis glandularis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cheilitis glandularis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Cheilitis glandularis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cheilitis glandularis' SubClassOf 'disease' + 'Cheilitis glandularis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cheilitis glandularis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cheilitis glandularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Cheilitis glandularis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295193 Label: Zygodactyly type 4 - 'Zygodactyly type 4' SubClassOf 'clinical subtype' - 'Zygodactyly type 4' SubClassOf 'part_of' some 'Syndactyly type 1' + 'Zygodactyly type 4' SubClassOf 'clinical subtype' + 'Zygodactyly type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_180122 Label: Septate uterus - 'Septate uterus' SubClassOf 'group of disorders' + 'Septate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295195 Label: Synpolydactyly type 1 - 'Synpolydactyly type 1' SubClassOf 'clinical subtype' - 'Synpolydactyly type 1' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' + 'Synpolydactyly type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295191 Label: Zygodactyly type 3 - 'Zygodactyly type 3' SubClassOf 'clinical subtype' - 'Zygodactyly type 3' SubClassOf 'part_of' some 'Syndactyly type 1' + 'Zygodactyly type 3' SubClassOf 'clinical subtype' + 'Zygodactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_295197 Label: Synpolydactyly type 2 - 'Synpolydactyly type 2' SubClassOf 'clinical subtype' - 'Synpolydactyly type 2' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' + 'Synpolydactyly type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295199 Label: Synpolydactyly type 3 - 'Synpolydactyly type 3' SubClassOf 'clinical subtype' - 'Synpolydactyly type 3' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 3' SubClassOf 'clinical subtype' + 'Synpolydactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' Class: http://www.orpha.net/ORDO/Orphanet_280270 Label: Pelizaeus-Merzbacher-like disease - 'Pelizaeus-Merzbacher-like disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Pelizaeus-Merzbacher-like disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher-like disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_217064 Label: 5-fluorouracil poisoning - '5-fluorouracil poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '5-fluorouracil poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' - '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + '5-fluorouracil poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + '5-fluorouracil poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1234 Label: Bartsocas-Papas syndrome - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'malformation syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Popliteal pterygium syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'malformation syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Bartsocas-Papas syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Popliteal pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3378 Label: Trisomy 13 - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Trisomy 13' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Trisomy 13' SubClassOf 'malformation syndrome' - 'Trisomy 13' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 13' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Trisomy 13' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Trisomy 13' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Trisomy 13' SubClassOf 'malformation syndrome' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1239 Label: Behr syndrome - 'Behr syndrome' SubClassOf 'malformation syndrome' - 'Behr syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Behr syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Behr syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Behr syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Behr syndrome' SubClassOf 'malformation syndrome' + 'Behr syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Behr syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Behr syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3379 Label: Distal trisomy 17q - 'Distal trisomy 17q' SubClassOf 'malformation syndrome' - 'Distal trisomy 17q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' + 'Distal trisomy 17q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + 'Distal trisomy 17q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1237 Label: Beemer-Ertbruggen syndrome - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beemer-Ertbruggen syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Beemer-Ertbruggen syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Beemer-Ertbruggen syndrome' SubClassOf 'malformation syndrome' - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Beemer-Ertbruggen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beemer-Ertbruggen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Beemer-Ertbruggen syndrome' SubClassOf 'malformation syndrome' + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Beemer-Ertbruggen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122333 Label: guanylate cyclase activator 1A (retina) - 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'guanylate cyclase activator 1A (retina)' SubClassOf 'gene' + 'guanylate cyclase activator 1A (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'guanylate cyclase activator 1A (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3375 Label: Trisomy X - 'Trisomy X' SubClassOf 'malformation syndrome' - 'Trisomy X' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy X' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Trisomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Trisomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Trisomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Trisomy X' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf 'malformation syndrome' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Trisomy X' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Trisomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3376 Label: Triploidy - 'Triploidy' SubClassOf 'has_prevalence' some 'Unknown' - 'Triploidy' SubClassOf 'has_inheritance' some 'sporadic' - 'Triploidy' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Triploidy' SubClassOf 'part_of' some 'Polyploidy' - 'Triploidy' SubClassOf 'malformation syndrome' - 'Triploidy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Triploidy' SubClassOf 'part_of' some 'Syndromic obesity' + 'Triploidy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Triploidy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Triploidy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Triploidy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyploidy' + 'Triploidy' SubClassOf 'malformation syndrome' + 'Triploidy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_180118 Label: Cordiform uterus - 'Cordiform uterus' SubClassOf 'part_of' some 'Unicervical bicornuate uterus' - 'Cordiform uterus' SubClassOf 'morphological anomaly' + 'Cordiform uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unicervical bicornuate uterus' + 'Cordiform uterus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3377 Label: Trismus - pseudocamptodactyly - 'Trismus - pseudocamptodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Trismus - pseudocamptodactyly' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trismus - pseudocamptodactyly' SubClassOf 'malformation syndrome' - 'Trismus - pseudocamptodactyly' SubClassOf 'has_prevalence' some 'Unknown' + 'Trismus - pseudocamptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Trismus - pseudocamptodactyly' SubClassOf 'malformation syndrome' + 'Trismus - pseudocamptodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1231 Label: Barber-Say syndrome - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Secondary ectropion' - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Barber-Say syndrome' SubClassOf 'malformation syndrome' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Barber-Say syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Barber-Say syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Microblepharon - ablephara' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Hypertrichosis' - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microblepharon - ablephara' + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Barber-Say syndrome' SubClassOf 'malformation syndrome' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Barber-Say syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_168782 Label: Childhood disintegrative disorder - 'Childhood disintegrative disorder' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Childhood disintegrative disorder' SubClassOf 'part_of' some 'Rare pervasive developmental disorder' - 'Childhood disintegrative disorder' SubClassOf 'disease' + 'Childhood disintegrative disorder' SubClassOf 'disease' + 'Childhood disintegrative disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Childhood disintegrative disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pervasive developmental disorder' Class: http://www.orpha.net/ORDO/Orphanet_180114 Label: Unicervical bicornuate uterus - 'Unicervical bicornuate uterus' SubClassOf 'group of disorders' + 'Unicervical bicornuate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229784 Label: RAD51 paralog C - 'RAD51 paralog C' SubClassOf 'gene' - 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 paralog C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'RAD51 paralog C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_229787 Label: polynucleotide kinase 3'-phosphatase - 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'polynucleotide kinase 3'-phosphatase' SubClassOf 'gene' + 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'polynucleotide kinase 3'-phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3-q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'polynucleotide kinase 3'-phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_377069 Label: plexin D1 - 'plexin D1' SubClassOf 'gene' - 'plexin D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' + 'plexin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plexin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'plexin D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' Class: http://www.orpha.net/ORDO/Orphanet_180111 Label: Bicervical bicornuate uterus with patent cervix and vagina - 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'clinical subtype' - 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'part_of' some 'Didelphys uterus' + 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_399839 Label: Rare female infertility due to a congenital hypogonadotropic hypogonadism - 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324525 Label: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_50839 Label: Cat-scratch disease - 'Cat-scratch disease' SubClassOf 'disease' - 'Cat-scratch disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cat-scratch disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Cat-scratch disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cat-scratch disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Cat-scratch disease' SubClassOf 'disease' + 'Cat-scratch disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cat-scratch disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cat-scratch disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Cat-scratch disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_206436 Label: Infantile Krabbe disease - 'Infantile Krabbe disease' SubClassOf 'clinical subtype' - 'Infantile Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' + 'Infantile Krabbe disease' SubClassOf 'clinical subtype' + 'Infantile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_50838 Label: Carpal tunnel syndrome - 'Carpal tunnel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399846 Label: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism - 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180106 Label: Bicervical bicornuate uterus and blind hemivagina - 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'part_of' some 'Didelphys uterus' - 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_159600 Label: forkhead box H1 - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'forkhead box H1' SubClassOf 'gene' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'forkhead box H1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'forkhead box H1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_97 Label: Familial paroxysmal ataxia - 'Familial paroxysmal ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial paroxysmal ataxia' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Familial paroxysmal ataxia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial paroxysmal ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial paroxysmal ataxia' SubClassOf 'disease' + 'Familial paroxysmal ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial paroxysmal ataxia' SubClassOf 'disease' + 'Familial paroxysmal ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Familial paroxysmal ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Familial paroxysmal ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_96 Label: Ataxia with vitamin E deficiency - 'Ataxia with vitamin E deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Ataxia with vitamin E deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ataxia with vitamin E deficiency' SubClassOf 'disease' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Ataxia with vitamin E deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Ataxia with vitamin E deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Ataxia with vitamin E deficiency' SubClassOf 'disease' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Ataxia with vitamin E deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia with vitamin E deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99 Label: Autosomal dominant cerebellar ataxia - 'Autosomal dominant cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_229796 Label: adenomatosis polyposis coli down-regulated 1 - 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'gene' + 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'adenomatosis polyposis coli down-regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'adenomatosis polyposis coli down-regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98 Label: Autosomal recessive spastic ataxia of Charlevoix-Saguenay - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'disease' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_324530 Label: Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98908 Label: Neutral lipid storage myopathy - 'Neutral lipid storage myopathy' SubClassOf 'part_of' some 'Neutral lipid storage disease' - 'Neutral lipid storage myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neutral lipid storage myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neutral lipid storage myopathy' SubClassOf 'disease' + 'Neutral lipid storage myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neutral lipid storage disease' + 'Neutral lipid storage myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neutral lipid storage myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neutral lipid storage myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93 Label: Aspartylglucosaminuria - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Aspartylglucosaminuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Aspartylglucosaminuria' SubClassOf 'disease' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' - 'Aspartylglucosaminuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aspartylglucosaminuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Oligosaccharidosis' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Aspartylglucosaminuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Aspartylglucosaminuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Aspartylglucosaminuria' SubClassOf 'disease' + 'Aspartylglucosaminuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98907 Label: Dorfman-Chanarin disease - 'Dorfman-Chanarin disease' SubClassOf 'disease' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Dorfman-Chanarin disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Neutral lipid storage disease' - 'Dorfman-Chanarin disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' + 'Dorfman-Chanarin disease' SubClassOf 'disease' + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neutral lipid storage disease' + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Dorfman-Chanarin disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dorfman-Chanarin disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' Class: http://www.orpha.net/ORDO/Orphanet_92 Label: Juvenile idiopathic arthritis - 'Juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_95 Label: Friedreich ataxia - 'Friedreich ataxia' SubClassOf 'part_of' some 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' - 'Friedreich ataxia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Friedreich ataxia' SubClassOf 'disease' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' - 'Friedreich ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf 'disease' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebellar ataxia with peripheral neuropathy' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98909 Label: Desminopathy - 'Desminopathy' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Desminopathy' SubClassOf 'disease' - 'Desminopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Desminopathy' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' + 'Desminopathy' SubClassOf 'disease' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_94 Label: Astrocytoma - 'Astrocytoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Astrocytoma' SubClassOf 'group of disorders' + 'Astrocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Astrocytoma' SubClassOf 'group of disorders' + 'Astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Astrocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98904 Label: Congenital myopathy with excess of thin filaments - 'Congenital myopathy with excess of thin filaments' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Congenital myopathy with excess of thin filaments' SubClassOf 'part_of' some 'Congenital myopathy' - 'Congenital myopathy with excess of thin filaments' SubClassOf 'disease' + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Congenital myopathy with excess of thin filaments' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_377052 Label: signal sequence receptor, delta - 'signal sequence receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'SSR4-CDG' - 'signal sequence receptor, delta' SubClassOf 'gene' + 'signal sequence receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'SSR4-CDG' + 'signal sequence receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal sequence receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98905 Label: Congenital multicore myopathy with external ophthalmoplegia - 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'clinical subtype' + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'clinical subtype' + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98902 Label: Amish nemaline myopathy - 'Amish nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' - 'Amish nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of troponin' - 'Amish nemaline myopathy' SubClassOf 'clinical subtype' - 'Amish nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amish nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Amish nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amish nemaline myopathy' SubClassOf 'clinical subtype' + 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Amish nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of troponin' Class: http://www.orpha.net/ORDO/Orphanet_324535 Label: Combined oxidative phosphorylation defect type 11 - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_242915 Label: Cbl proto-oncogene, E3 ubiquitin protein ligase - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Major susceptibility factor in' some 'Juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Major susceptibility factor in' some 'Juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1297 Label: Branchio-oculo-facial syndrome - 'Branchio-oculo-facial syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-oculo-facial syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchio-oculo-facial syndrome' SubClassOf 'malformation syndrome' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-oculo-facial syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Branchio-oculo-facial syndrome' SubClassOf 'malformation syndrome' + 'Branchio-oculo-facial syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchio-oculo-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchio-oculo-facial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206448 Label: Adult Krabbe disease - 'Adult Krabbe disease' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Adult Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' - 'Adult Krabbe disease' SubClassOf 'clinical subtype' + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' + 'Adult Krabbe disease' SubClassOf 'clinical subtype' + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' Class: http://www.orpha.net/ORDO/Orphanet_1296 Label: Lambert syndrome - 'Lambert syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Lambert syndrome' SubClassOf 'part_of' some 'Otomandibular dysplasia associated with monogenic syndromes' - 'Lambert syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Lambert syndrome' SubClassOf 'malformation syndrome' - 'Lambert syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Lambert syndrome' SubClassOf 'malformation syndrome' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otomandibular dysplasia associated with monogenic syndromes' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1295 Label: Brachytelephalangy - dysmorphism - Kallmann syndrome - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'malformation syndrome' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'malformation syndrome' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206443 Label: Late-infantile/juvenile Krabbe disease - 'Late-infantile/juvenile Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' - 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' + 'Late-infantile/juvenile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' + 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399831 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder - 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1293 Label: Brachyolmia - 'Brachyolmia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Brachyolmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachyolmia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachyolmia' SubClassOf 'group of disorders' + 'Brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachyolmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Brachyolmia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1292 Label: Brachymorphism - onychodysplasia - dysphalangism - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'malformation syndrome' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90 Label: Argininemia - 'Argininemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Argininemia' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Argininemia' SubClassOf 'disease' - 'Argininemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Argininemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Argininemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Argininemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Argininemia' SubClassOf 'disease' + 'Argininemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Argininemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_91 Label: Aromatase deficiency - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Aromatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Aromatase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetoplacental androgens excess' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Aromatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aromatase deficiency' SubClassOf 'disease' - 'Aromatase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Aromatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aromatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetoplacental androgens excess' + 'Aromatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf 'disease' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_229791 Label: keratin 74 - 'keratin 74' SubClassOf 'gene' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pure hair and nail ectodermal dysplasia' + 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_242919 Label: steroid 5 alpha-reductase 3 - 'steroid 5 alpha-reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'SRD5A3-CDG' - 'steroid 5 alpha-reductase 3' SubClassOf 'gene' + 'steroid 5 alpha-reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'SRD5A3-CDG' + 'steroid 5 alpha-reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'steroid 5 alpha-reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401564 Label: vacuolar protein sorting 53 homolog (S. cerevisiae) - 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' - 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'gene' + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1299 Label: Branchio-skeleto-genital syndrome - 'Branchio-skeleto-genital syndrome' SubClassOf 'malformation syndrome' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Branchio-skeleto-genital syndrome' SubClassOf 'malformation syndrome' + 'Branchio-skeleto-genital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98919 Label: Miller-Fisher syndrome - 'Miller-Fisher syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Miller-Fisher syndrome' SubClassOf 'part_of' some 'Regional variant of Guillain-Barr� syndrome' - 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Miller-Fisher syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Miller-Fisher syndrome' SubClassOf 'disease' - 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Miller-Fisher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Miller-Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Regional variant of Guillain-Barr� syndrome' + 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Miller-Fisher syndrome' SubClassOf 'disease' + 'Miller-Fisher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Miller-Fisher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_98918 Label: Acute motor axonal neuropathy - 'Acute motor axonal neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute motor axonal neuropathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute motor axonal neuropathy' SubClassOf 'disease' - 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute motor axonal neuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' + 'Acute motor axonal neuropathy' SubClassOf 'disease' + 'Acute motor axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' + 'Acute motor axonal neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_98913 Label: Postsynaptic congenital myasthenic syndromes - 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' - 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Postsynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' + 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98912 Label: Late-onset distal myopathy, Markesbery-Griggs type - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'disease' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein ZASP' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'disease' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein ZASP' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98911 Label: Distal myotilinopathy - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Distal myotilinopathy' SubClassOf 'disease' - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of myotilin' - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of myotilin' + 'Distal myotilinopathy' SubClassOf 'disease' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98910 Label: Alpha-crystallinopathy - 'Alpha-crystallinopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Alpha-crystallinopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alphaB-cristallin' - 'Alpha-crystallinopathy' SubClassOf 'disease' + 'Alpha-crystallinopathy' SubClassOf 'disease' + 'Alpha-crystallinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alphaB-cristallin' + 'Alpha-crystallinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98917 Label: Acute motor-sensory axonal neuropathy - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'disease' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'disease' + 'Acute motor-sensory axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165856 Label: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 - 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'gene' - 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary immunodeficiency syndrome due to p14 deficiency' + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary immunodeficiency syndrome due to p14 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_182231 Label: Rare rheumatologic disease - 'Rare rheumatologic disease' SubClassOf 'group of disorders' + 'Rare rheumatologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98916 Label: Acute inflammatory demyelinating polyradiculoneuropathy - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'disease' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'disease' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_326886 Label: killin, p53-regulated DNA replication inhibitor - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'gene' + 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'killin, p53-regulated DNA replication inhibitor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'killin, p53-regulated DNA replication inhibitor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_98915 Label: Synaptic congenital myasthenic syndromes - 'Synaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' - 'Synaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Synaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' + 'Synaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98914 Label: Presynaptic congenital myasthenic syndromes - 'Presynaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' - 'Presynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' + 'Presynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' + 'Presynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_1261 Label: Bonnemann-Meinecke-Reich syndrome - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'malformation syndrome' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'malformation syndrome' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1260 Label: Sino-auricular heart block - 'Sino-auricular heart block' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Sino-auricular heart block' SubClassOf 'disease' + 'Sino-auricular heart block' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Sino-auricular heart block' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1263 Label: Boomerang dysplasia - 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Boomerang dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Boomerang dysplasia' SubClassOf 'disease' - 'Boomerang dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Boomerang dysplasia' SubClassOf 'part_of' some 'Filamin-related bone disorder' + 'Boomerang dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Boomerang dysplasia' SubClassOf 'disease' + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Boomerang dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98920 Label: Spinal muscular atrophy with respiratory distress type 1 - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'disease' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'disease' + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1262 Label: B��k syndrome - 'B��k syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'B��k syndrome' SubClassOf 'malformation syndrome' - 'B��k syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'B��k syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'B��k syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'B��k syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'B��k syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'B��k syndrome' SubClassOf 'malformation syndrome' + 'B��k syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'B��k syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_182228 Label: Systemic autoimmune disease - 'Systemic autoimmune disease' SubClassOf 'group of disorders' + 'Systemic autoimmune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_50815 Label: Branchiogenic deafness syndrome - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Branchiogenic deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Branchiogenic deafness syndrome' SubClassOf 'malformation syndrome' - 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchiogenic deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Branchiogenic deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf 'malformation syndrome' + 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1264 Label: Tricho-retino-dento-digital syndrome - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'malformation syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tricho-retino-dento-digital syndrome' SubClassOf 'malformation syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tricho-retino-dento-digital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1267 Label: Botulism - 'Botulism' SubClassOf 'disease' - 'Botulism' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Botulism' SubClassOf 'part_of' some 'Acquired neuromuscular junction disease' - 'Botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf 'disease' + 'Botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neuromuscular junction disease' + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_50814 Label: Craniolenticulosutural dysplasia - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniolenticulosutural dysplasia' SubClassOf 'malformation syndrome' + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniolenticulosutural dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniolenticulosutural dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniolenticulosutural dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1266 Label: Dermato-cardio-skeletal syndrome, Borrone type - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'malformation syndrome' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'malformation syndrome' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_50811 Label: Lipodystrophy - intellectual disability - deafness - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'malformation syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'malformation syndrome' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50812 Label: Zellweger-like syndrome without peroxisomal anomalies - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141000 Label: Orofaciodigital syndrome type 11 - 'Orofaciodigital syndrome type 11' SubClassOf 'has_inheritance' some 'sporadic' - 'Orofaciodigital syndrome type 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 11' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 11' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Orofaciodigital syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 11' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50810 Label: Microlissencephaly - micromelia - 'Microlissencephaly - micromelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microlissencephaly - micromelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microlissencephaly - micromelia' SubClassOf 'malformation syndrome' + 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Microlissencephaly - micromelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microlissencephaly - micromelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microlissencephaly - micromelia' SubClassOf 'malformation syndrome' + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280234 Label: Null syndrome - 'Null syndrome' SubClassOf 'clinical subtype' - 'Null syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Null syndrome' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Null syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Null syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Null syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Null syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Null syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Null syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_222628 Label: Hereditary poikiloderma - 'Hereditary poikiloderma' SubClassOf 'group of disorders' + 'Hereditary poikiloderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_392264 Label: TELO2 interacting protein 2 - 'TELO2 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' - 'TELO2 interacting protein 2' SubClassOf 'gene' + 'TELO2 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' + 'TELO2 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p12"^^http://www.w3.org/2001/XMLSchema#string + 'TELO2 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_235207 Label: intraflagellar transport 122 - 'intraflagellar transport 122' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' - 'intraflagellar transport 122' SubClassOf 'gene' + 'intraflagellar transport 122' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 122' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' + 'intraflagellar transport 122' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_235204 Label: crystallin, gamma S - 'crystallin, gamma S' SubClassOf 'gene' - 'crystallin, gamma S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset cortical cataract' + 'crystallin, gamma S' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset cortical cataract' + 'crystallin, gamma S' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98922 Label: Blake pouch cyst - 'Blake pouch cyst' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' - 'Blake pouch cyst' SubClassOf 'morphological anomaly' + 'Blake pouch cyst' SubClassOf 'morphological anomaly' + 'Blake pouch cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' Class: http://www.orpha.net/ORDO/Orphanet_399849 Label: Rare female infertility due to an adrenal disorder - 'Rare female infertility due to an adrenal disorder' SubClassOf 'group of disorders' + 'Rare female infertility due to an adrenal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182222 Label: Rare systemic disease - 'Rare systemic disease' SubClassOf 'group of disorders' + 'Rare systemic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165848 Label: GLIS family zinc finger 3 - 'GLIS family zinc finger 3' SubClassOf 'gene' - 'GLIS family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' + 'GLIS family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'GLIS family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLIS family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' Class: http://www.orpha.net/ORDO/Orphanet_165845 Label: casein kinase 1, delta - 'casein kinase 1, delta' SubClassOf 'gene' - 'casein kinase 1, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' + 'casein kinase 1, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string + 'casein kinase 1, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' + 'casein kinase 1, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1272 Label: Fine-Lubinsky syndrome - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fine-Lubinsky syndrome' SubClassOf 'malformation syndrome' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Fine-Lubinsky syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fine-Lubinsky syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fine-Lubinsky syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fine-Lubinsky syndrome' SubClassOf 'malformation syndrome' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Fine-Lubinsky syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fine-Lubinsky syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fine-Lubinsky syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_399853 Label: Rare female infertility due to an anomaly of ovarian function - 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'group of disorders' + 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182214 Label: Rare inflammatory eye disease - 'Rare inflammatory eye disease' SubClassOf 'group of disorders' + 'Rare inflammatory eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1270 Label: Bowen-Conradi syndrome - 'Bowen-Conradi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bowen-Conradi syndrome' SubClassOf 'malformation syndrome' - 'Bowen-Conradi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bowen-Conradi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bowen-Conradi syndrome' SubClassOf 'malformation syndrome' + 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bowen-Conradi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1276 Label: Brachydactyly - arterial hypertension - 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly - arterial hypertension' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly - arterial hypertension' SubClassOf 'part_of' some 'Genetic hypertension' - 'Brachydactyly - arterial hypertension' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - arterial hypertension' SubClassOf 'malformation syndrome' - 'Brachydactyly - arterial hypertension' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly - arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Brachydactyly - arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly - arterial hypertension' SubClassOf 'malformation syndrome' + 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1275 Label: Brachydactyly - elbow wrist dysplasia - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'malformation syndrome' - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'malformation syndrome' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280229 Label: Pelizaeus-Merzbacher disease in female carriers - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1278 Label: Brachydactyly - preaxial hallux varus - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly - preaxial hallux varus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly - preaxial hallux varus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1277 Label: Brachydactyly - mesomelia - intellectual disability - heart defects - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'malformation syndrome' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'malformation syndrome' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206428 Label: Hypoxanthine-guanine phosphoribosyltransferase deficiency - 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of disorders' + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280224 Label: Pelizaeus-Merzbacher disease, transitional form - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_122387 Label: huntingtin - 'huntingtin' SubClassOf 'gene' - 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Huntington disease' - 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease' + 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Huntington disease' + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Huntington disease' Class: http://www.orpha.net/ORDO/Orphanet_281347 Label: ubiquilin 2 - 'ubiquilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'ubiquilin 2' SubClassOf 'gene' + 'ubiquilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'ubiquilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228290 Label: White fibrous papulosis of the neck - 'White fibrous papulosis of the neck' SubClassOf 'disease' - 'White fibrous papulosis of the neck' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'White fibrous papulosis of the neck' SubClassOf 'has_prevalence' some 'Unknown' - 'White fibrous papulosis of the neck' SubClassOf 'has_inheritance' some 'sporadic' - 'White fibrous papulosis of the neck' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'White fibrous papulosis of the neck' SubClassOf 'disease' + 'White fibrous papulosis of the neck' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'White fibrous papulosis of the neck' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'White fibrous papulosis of the neck' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_400003 Label: Rare genetic disorder with obstructive azoospermia - 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'group of disorders' + 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397587 Label: Deep dermatophytosis - 'Deep dermatophytosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Deep dermatophytosis' SubClassOf 'disease' + 'Deep dermatophytosis' SubClassOf 'disease' + 'Deep dermatophytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_228293 Label: Pseudoxanthoma elasticum-like papillary dermal elastocytosis - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'disease' + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122381 Label: hyperpolarization activated cyclic nucleotide-gated potassium channel 4 - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'gene' + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98942 Label: Coloboma of choroid and retina - 'Coloboma of choroid and retina' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of choroid and retina' SubClassOf 'morphological anomaly' + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' + 'Coloboma of choroid and retina' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98941 Label: Von Hippel anomaly - 'Von Hippel anomaly' SubClassOf 'part_of' some 'Peters anomaly' - 'Von Hippel anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Hippel anomaly' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Von Hippel anomaly' SubClassOf 'malformation syndrome' + 'Von Hippel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peters anomaly' + 'Von Hippel anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Hippel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Von Hippel anomaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400008 Label: Rare genetic female infertility - 'Rare genetic female infertility' SubClassOf 'group of disorders' + 'Rare genetic female infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352629 Label: 16q24.1 microdeletion syndrome - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' - '16q24.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16q24.1 microdeletion syndrome' SubClassOf 'disease' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 16' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16q24.1 microdeletion syndrome' SubClassOf 'disease' + '16q24.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183734 Label: Genetic gynecological tumor - 'Genetic gynecological tumor' SubClassOf 'group of disorders' + 'Genetic gynecological tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122383 Label: hypocretin (orexin) neuropeptide precursor - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'gene' - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Candidate gene tested in' some 'Narcolepsy without cataplexy' + 'hypocretin (orexin) neuropeptide precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'hypocretin (orexin) neuropeptide precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Candidate gene tested in' some 'Narcolepsy without cataplexy' Class: http://www.orpha.net/ORDO/Orphanet_183731 Label: Rare genetic gynecological and obstetrical diseases - 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'group of disorders' + 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157850 Label: Pantothenate kinase-associated neurodegeneration - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_376495 Label: seizure threshold 2 homolog (mouse) - 'seizure threshold 2 homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy without suppression burst' - 'seizure threshold 2 homolog (mouse)' SubClassOf 'gene' + 'seizure threshold 2 homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy without suppression burst' + 'seizure threshold 2 homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2"^^http://www.w3.org/2001/XMLSchema#string + 'seizure threshold 2 homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98938 Label: Colobomatous microphthalmia - 'Colobomatous microphthalmia' SubClassOf 'part_of' some 'Isolated anophthalmia - microphthalmia' - 'Colobomatous microphthalmia' SubClassOf 'malformation syndrome' + 'Colobomatous microphthalmia' SubClassOf 'malformation syndrome' + 'Colobomatous microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anophthalmia - microphthalmia' + 'Colobomatous microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98933 Label: Multiple system atrophy, parkinsonian type - 'Multiple system atrophy, parkinsonian type' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'part_of' some 'Multiple system atrophy' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'clinical subtype' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple system atrophy, parkinsonian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple system atrophy' + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple system atrophy, parkinsonian type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98934 Label: Huntington disease-like 2 - 'Huntington disease-like 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Huntington disease-like 2' SubClassOf 'disease' - 'Huntington disease-like 2' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Huntington disease-like 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Huntington disease-like 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Huntington disease-like 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Huntington disease-like 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Huntington disease-like 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Huntington disease-like 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Huntington disease-like 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_323437 Label: ectopic P-granules autophagy protein 5 homolog (C. elegans) - 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf 'gene' - 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vici syndrome' + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vici syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217012 Label: Spinocerebellar ataxia type 31 - 'Spinocerebellar ataxia type 31' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 31' SubClassOf 'disease' + 'Spinocerebellar ataxia type 31' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 31' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 31' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 31' SubClassOf 'disease' + 'Spinocerebellar ataxia type 31' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_228299 Label: Mid-dermal elastolysis - 'Mid-dermal elastolysis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Mid-dermal elastolysis' SubClassOf 'disease' - 'Mid-dermal elastolysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Mid-dermal elastolysis' SubClassOf 'has_inheritance' some 'sporadic' - 'Mid-dermal elastolysis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Mid-dermal elastolysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mid-dermal elastolysis' SubClassOf 'disease' + 'Mid-dermal elastolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Mid-dermal elastolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_217017 Label: Zechi-Ceide syndrome - 'Zechi-Ceide syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zechi-Ceide syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Zechi-Ceide syndrome' SubClassOf 'malformation syndrome' + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Zechi-Ceide syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Zechi-Ceide syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zechi-Ceide syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122398 Label: HESX homeobox 1 - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'HESX homeobox 1' SubClassOf 'gene' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'HESX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HESX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' Class: http://www.orpha.net/ORDO/Orphanet_288971 Label: chromosome 8 open reading frame 37 - 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'chromosome 8 open reading frame 37' SubClassOf 'gene' - 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'chromosome 8 open reading frame 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'chromosome 8 open reading frame 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_159633 Label: alpha-methylacyl-CoA racemase - 'alpha-methylacyl-CoA racemase' SubClassOf 'gene' - 'alpha-methylacyl-CoA racemase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 4' + 'alpha-methylacyl-CoA racemase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'alpha-methylacyl-CoA racemase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alpha-methylacyl-CoA racemase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 4' Class: http://www.orpha.net/ORDO/Orphanet_122391 Label: histone deacetylase 9 - 'histone deacetylase 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'histone deacetylase 9' SubClassOf 'gene' + 'histone deacetylase 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'histone deacetylase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98951 Label: Inverse Marcus-Gunn phenomenon - 'Inverse Marcus-Gunn phenomenon' SubClassOf 'clinical subtype' - 'Inverse Marcus-Gunn phenomenon' SubClassOf 'part_of' some 'Marcus-Gunn syndrome' + 'Inverse Marcus-Gunn phenomenon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marcus-Gunn syndrome' + 'Inverse Marcus-Gunn phenomenon' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98950 Label: Partial cryptophthalmia - 'Partial cryptophthalmia' SubClassOf 'clinical subtype' - 'Partial cryptophthalmia' SubClassOf 'part_of' some 'Isolated cryptophthalmia' + 'Partial cryptophthalmia' SubClassOf 'clinical subtype' + 'Partial cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98949 Label: Complete cryptophthalmia - 'Complete cryptophthalmia' SubClassOf 'part_of' some 'Isolated cryptophthalmia' - 'Complete cryptophthalmia' SubClassOf 'clinical subtype' + 'Complete cryptophthalmia' SubClassOf 'clinical subtype' + 'Complete cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98947 Label: Coloboma of optic papilla - 'Coloboma of optic papilla' SubClassOf 'morphological anomaly' - 'Coloboma of optic papilla' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of optic papilla' SubClassOf 'morphological anomaly' + 'Coloboma of optic papilla' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93622 Label: Dent disease type 1 - 'Dent disease type 1' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dent disease type 1' SubClassOf 'part_of' some 'Dent disease' - 'Dent disease type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Dent disease type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dent disease type 1' SubClassOf 'clinical subtype' + 'Dent disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dent disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dent disease' + 'Dent disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dent disease type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98948 Label: Congenital symblepharon - 'Congenital symblepharon' SubClassOf 'clinical subtype' - 'Congenital symblepharon' SubClassOf 'part_of' some 'Isolated cryptophthalmia' + 'Congenital symblepharon' SubClassOf 'clinical subtype' + 'Congenital symblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98945 Label: Coloboma of macula - 'Coloboma of macula' SubClassOf 'morphological anomaly' - 'Coloboma of macula' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of macula' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula' SubClassOf 'morphological anomaly' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_98946 Label: Coloboma of eyelid - 'Coloboma of eyelid' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of eyelid' SubClassOf 'morphological anomaly' - 'Coloboma of eyelid' SubClassOf 'part_of' some 'Eyelid border anomaly' + 'Coloboma of eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyelid border anomaly' + 'Coloboma of eyelid' SubClassOf 'morphological anomaly' + 'Coloboma of eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93623 Label: Dent disease type 2 - 'Dent disease type 2' SubClassOf 'clinical subtype' - 'Dent disease type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Dent disease type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dent disease type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dent disease type 2' SubClassOf 'part_of' some 'Dent disease' + 'Dent disease type 2' SubClassOf 'clinical subtype' + 'Dent disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dent disease' + 'Dent disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dent disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_98943 Label: Coloboma of eye lens - 'Coloboma of eye lens' SubClassOf 'morphological anomaly' - 'Coloboma of eye lens' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of eye lens' SubClassOf 'morphological anomaly' + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93626 Label: Rare renal disease - 'Rare renal disease' SubClassOf 'group of disorders' + 'Rare renal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98944 Label: Coloboma of iris - 'Coloboma of iris' SubClassOf 'morphological anomaly' - 'Coloboma of iris' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of iris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' + 'Coloboma of iris' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217008 Label: Bockenheimer syndrome - 'Bockenheimer syndrome' SubClassOf 'malformation syndrome' - 'Bockenheimer syndrome' SubClassOf 'part_of' some 'Venous malformation' - 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bockenheimer syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Bockenheimer syndrome' SubClassOf 'part_of' some 'Skin vascular disease' + 'Bockenheimer syndrome' SubClassOf 'malformation syndrome' + 'Bockenheimer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159628 Label: gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) - 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'gene' - 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21-p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_157835 Label: Paroxysmal hemicrania - 'Paroxysmal hemicrania' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Paroxysmal hemicrania' SubClassOf 'disease' - 'Paroxysmal hemicrania' SubClassOf 'part_of' some 'Rare headache' - 'Paroxysmal hemicrania' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Paroxysmal hemicrania' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal hemicrania' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal hemicrania' SubClassOf 'disease' + 'Paroxysmal hemicrania' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_159623 Label: glial cells missing homolog 2 (Drosophila) - 'glial cells missing homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' - 'glial cells missing homolog 2 (Drosophila)' SubClassOf 'gene' + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228272 Label: Primary anetoderma - 'Primary anetoderma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary anetoderma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Primary anetoderma' SubClassOf 'disease' - 'Primary anetoderma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary anetoderma' SubClassOf 'has_inheritance' some 'sporadic' + 'Primary anetoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Primary anetoderma' SubClassOf 'disease' + 'Primary anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary anetoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_157832 Label: Craniorhiny - 'Craniorhiny' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniorhiny' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniorhiny' SubClassOf 'malformation syndrome' + 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniorhiny' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Craniorhiny' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniorhiny' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98960 Label: Thiel-Behnke corneal dystrophy - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'disease' + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thiel-Behnke corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_92050 Label: Intestinal epithelial dysplasia - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Intestinal epithelial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intestinal epithelial dysplasia' SubClassOf 'disease' - 'Intestinal epithelial dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Intestinal epithelial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Intestinal epithelial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Intestinal epithelial dysplasia' SubClassOf 'disease' + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_159621 Label: gamma-aminobutyric acid (GABA) A receptor, beta 3 - 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q12"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_183710 Label: Genetic susceptibility to infections due to particular pathogens - 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'group of disorders' + 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_242924 Label: tight junction protein 2 - 'tight junction protein 2' SubClassOf 'gene' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'tight junction protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q13-q21"^^http://www.w3.org/2001/XMLSchema#string + 'tight junction protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' Class: http://www.orpha.net/ORDO/Orphanet_98962 Label: Granular corneal dystrophy type I - 'Granular corneal dystrophy type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Granular corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Granular corneal dystrophy type I' SubClassOf 'disease' - 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some 'sporadic' - 'Granular corneal dystrophy type I' SubClassOf 'part_of' some 'Stromal corneal dystrophy' + 'Granular corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Granular corneal dystrophy type I' SubClassOf 'disease' + 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Granular corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_263004 Label: Partial duplication of the long arm of chromosome 22 - 'Partial duplication of the long arm of chromosome 22' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 22' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98961 Label: Reis-B�cklers corneal dystrophy - 'Reis-B�cklers corneal dystrophy' SubClassOf 'disease' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Reis-B�cklers corneal dystrophy' SubClassOf 'disease' + 'Reis-B�cklers corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Reis-B�cklers corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_352609 Label: phosphorylase kinase, gamma 1 (muscle) - 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'gene' - 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'Candidate gene tested in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'Candidate gene tested in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98964 Label: Lattice corneal dystrophy type I - 'Lattice corneal dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lattice corneal dystrophy type I' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Lattice corneal dystrophy type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Lattice corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lattice corneal dystrophy type I' SubClassOf 'disease' + 'Lattice corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Lattice corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lattice corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lattice corneal dystrophy type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183713 Label: Pyogenic bacterial infections due to MyD88 deficiency - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'disease' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'disease' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_242929 Label: chromosome 12 open reading frame 65 - 'chromosome 12 open reading frame 65' SubClassOf 'gene' - 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 7' - 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 55' + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Behr syndrome' + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 7' + 'chromosome 12 open reading frame 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 12 open reading frame 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 55' Class: http://www.orpha.net/ORDO/Orphanet_98963 Label: Granular corneal dystrophy type II - 'Granular corneal dystrophy type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Granular corneal dystrophy type II' SubClassOf 'disease' - 'Granular corneal dystrophy type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Granular corneal dystrophy type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Granular corneal dystrophy type II' SubClassOf 'part_of' some 'Stromal corneal dystrophy' + 'Granular corneal dystrophy type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Granular corneal dystrophy type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Granular corneal dystrophy type II' SubClassOf 'disease' + 'Granular corneal dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98954 Label: Meesmann corneal dystrophy - 'Meesmann corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Meesmann corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Meesmann corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Meesmann corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Meesmann corneal dystrophy' SubClassOf 'disease' + 'Meesmann corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Meesmann corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Meesmann corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Meesmann corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Meesmann corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98955 Label: Lisch epithelial corneal dystrophy - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lisch epithelial corneal dystrophy' SubClassOf 'disease' - 'Lisch epithelial corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Lisch epithelial corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lisch epithelial corneal dystrophy' SubClassOf 'disease' + 'Lisch epithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Lisch epithelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lisch epithelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_93614 Label: Hematological disorder with renal involvement - 'Hematological disorder with renal involvement' SubClassOf 'group of disorders' + 'Hematological disorder with renal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98956 Label: Microcystic corneal dystrophy - 'Microcystic corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Microcystic corneal dystrophy' SubClassOf 'disease' + 'Microcystic corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Microcystic corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93613 Label: Cystinuria type B - 'Cystinuria type B' SubClassOf 'part_of' some 'Cystinuria' - 'Cystinuria type B' SubClassOf 'etiological subtype' + 'Cystinuria type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystinuria' + 'Cystinuria type B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98957 Label: Gelatinous drop-like corneal dystrophy - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'disease' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'disease' + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gelatinous drop-like corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Gelatinous drop-like corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93612 Label: Cystinuria type A - 'Cystinuria type A' SubClassOf 'part_of' some 'Cystinuria' - 'Cystinuria type A' SubClassOf 'etiological subtype' + 'Cystinuria type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystinuria' + 'Cystinuria type A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98958 Label: Honey-droplet corneal dystrophy - 'Honey-droplet corneal dystrophy' SubClassOf 'disease' - 'Honey-droplet corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' + 'Honey-droplet corneal dystrophy' SubClassOf 'disease' + 'Honey-droplet corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98959 Label: Subepithelial mucinous corneal dystrophy - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'disease' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'disease' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Subepithelial mucinous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Subepithelial mucinous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93610 Label: Distal renal tubular acidosis with anemia - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal renal tubular acidosis with anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' - 'Distal renal tubular acidosis with anemia' SubClassOf 'part_of' some 'Distal renal tubular acidosis' - 'Distal renal tubular acidosis with anemia' SubClassOf 'clinical subtype' - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Distal renal tubular acidosis with anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal renal tubular acidosis' + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' + 'Distal renal tubular acidosis with anemia' SubClassOf 'clinical subtype' + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_75508 Label: Angioosteohypotrophic syndrome - 'Angioosteohypotrophic syndrome' SubClassOf 'malformation syndrome' - 'Angioosteohypotrophic syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Angioosteohypotrophic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Angioosteohypotrophic syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Angioosteohypotrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioosteohypotrophic syndrome' SubClassOf 'malformation syndrome' + 'Angioosteohypotrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Angioosteohypotrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_326843 Label: mindbomb E3 ubiquitin protein ligase 1 - 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf 'gene' - 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Left ventricular noncompaction' + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228277 Label: Familial anetoderma - 'Familial anetoderma' SubClassOf 'disease' - 'Familial anetoderma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial anetoderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial anetoderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial anetoderma' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' + 'Familial anetoderma' SubClassOf 'disease' + 'Familial anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial anetoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Familial anetoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_63862 Label: Schisis association - 'Schisis association' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schisis association' SubClassOf 'malformation syndrome' - 'Schisis association' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Schisis association' SubClassOf 'has_prevalence' some 'Unknown' + 'Schisis association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Schisis association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schisis association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schisis association' SubClassOf 'malformation syndrome' + 'Schisis association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_288959 Label: retinol binding protein 3, interstitial - 'retinol binding protein 3, interstitial' SubClassOf 'gene' - 'retinol binding protein 3, interstitial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinol binding protein 3, interstitial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinol binding protein 3, interstitial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinol binding protein 3, interstitial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_93619 Label: Rare renal tumor - 'Rare renal tumor' SubClassOf 'group of disorders' + 'Rare renal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157826 Label: Congenital epulis - 'Congenital epulis' SubClassOf 'disease' - 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital epulis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital epulis' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Congenital epulis' SubClassOf 'disease' + 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital epulis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital epulis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_93618 Label: Rare cause of hypertension - 'Rare cause of hypertension' SubClassOf 'group of disorders' + 'Rare cause of hypertension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93616 Label: Hemoglobin H disease - 'Hemoglobin H disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hemoglobin H disease' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to storage disease' - 'Hemoglobin H disease' SubClassOf 'disease' - 'Hemoglobin H disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hemoglobin H disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin H disease' SubClassOf 'part_of' some 'Alpha-thalassemia' + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409989) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1200.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin H disease' SubClassOf 'clinical subtype' + 'Hemoglobin H disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency secondary to storage disease' + 'Hemoglobin H disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia' + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_157846 Label: Neuroferritinopathy - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Neuroferritinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Neuroferritinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Neuroferritinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroferritinopathy' SubClassOf 'disease' - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Neuroferritinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Neuroferritinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroferritinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Neuroferritinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_241992 Label: catechol-O-methyltransferase - 'catechol-O-methyltransferase' SubClassOf 'gene' - 'catechol-O-methyltransferase' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'catechol-O-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'catechol-O-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catechol-O-methyltransferase' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183707 Label: Neutrophil immunodeficiency syndrome - 'Neutrophil immunodeficiency syndrome' SubClassOf 'disease' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neutrophil immunodeficiency syndrome' SubClassOf 'disease' + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Neutrophil immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Neutrophil immunodeficiency syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_397596 Label: Activated PIK3-delta syndrome - 'Activated PIK3-delta syndrome' SubClassOf 'disease' - 'Activated PIK3-delta syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'Activated PIK3-delta syndrome' SubClassOf 'disease' + 'Activated PIK3-delta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_159615 Label: FUS RNA binding protein - 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'FUS RNA binding protein' SubClassOf 'Major susceptibility factor in' some 'Frontotemporal dementia with motor neuron disease' - 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' - 'FUS RNA binding protein' SubClassOf 'gene' - 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'FUS RNA binding protein' SubClassOf 'Major susceptibility factor in' some 'Frontotemporal dementia with motor neuron disease' + 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' + 'FUS RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FUS RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_157843 Label: Trigeminal autonomic cephalalgia - 'Trigeminal autonomic cephalalgia' SubClassOf 'part_of' some 'Rare headache' - 'Trigeminal autonomic cephalalgia' SubClassOf 'disease' + 'Trigeminal autonomic cephalalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Trigeminal autonomic cephalalgia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228285 Label: Acquired cutis laxa - 'Acquired cutis laxa' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired cutis laxa' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acquired cutis laxa' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired cutis laxa' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Acquired cutis laxa' SubClassOf 'disease' + 'Acquired cutis laxa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Acquired cutis laxa' SubClassOf 'disease' + 'Acquired cutis laxa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acquired cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_98971 Label: Posterior amorphous corneal dystrophy - 'Posterior amorphous corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Posterior amorphous corneal dystrophy' SubClassOf 'disease' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Posterior amorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Posterior amorphous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Posterior amorphous corneal dystrophy' SubClassOf 'disease' + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_397590 Label: Silver-Russell syndrome due to a point mutation - 'Silver-Russell syndrome due to a point mutation' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to a point mutation' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98970 Label: Fleck corneal dystrophy - 'Fleck corneal dystrophy' SubClassOf 'disease' - 'Fleck corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Fleck corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fleck corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fleck corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fleck corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fleck corneal dystrophy' SubClassOf 'disease' + 'Fleck corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fleck corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fleck corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98975 Label: Congenital hereditary endothelial dystrophy type I - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disease' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98974 Label: Fuchs endothelial corneal dystrophy - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'disease' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fuchs endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fuchs endothelial corneal dystrophy' SubClassOf 'disease' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98973 Label: Posterior polymorphous corneal dystrophy - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'part_of' some 'Secondary glaucoma due to a proliferation and differentiation anomaly' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'disease' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Posterior polymorphous corneal dystrophy' SubClassOf 'disease' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Posterior polymorphous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98972 Label: Central cloudy dystrophy of Francois - 'Central cloudy dystrophy of Francois' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Central cloudy dystrophy of Francois' SubClassOf 'disease' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Central cloudy dystrophy of Francois' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central cloudy dystrophy of Francois' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central cloudy dystrophy of Francois' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Central cloudy dystrophy of Francois' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Central cloudy dystrophy of Francois' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397593 Label: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'disease' + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98967 Label: Schnyder corneal dystrophy - 'Schnyder corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schnyder corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schnyder corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Schnyder corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Schnyder corneal dystrophy' SubClassOf 'disease' + 'Schnyder corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Schnyder corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schnyder corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Schnyder corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schnyder corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93602 Label: Xanthinuria type II - 'Xanthinuria type II' SubClassOf 'part_of' some 'Hereditary xanthinuria' - 'Xanthinuria type II' SubClassOf 'etiological subtype' + 'Xanthinuria type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary xanthinuria' + 'Xanthinuria type II' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_93601 Label: Xanthinuria type I - 'Xanthinuria type I' SubClassOf 'part_of' some 'Hereditary xanthinuria' - 'Xanthinuria type I' SubClassOf 'etiological subtype' + 'Xanthinuria type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary xanthinuria' + 'Xanthinuria type I' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_165805 Label: Familial mesial temporal lobe epilepsy with febrile seizures - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disease' - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disease' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label: Antenatal Bartter syndrome - 'Antenatal Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Antenatal Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Antenatal Bartter syndrome' SubClassOf 'part_of' some 'Bartter syndrome' - 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Antenatal Bartter syndrome' SubClassOf 'clinical subtype' + 'Antenatal Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Antenatal Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Antenatal Bartter syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93603 Label: Rare renal tubular disease - 'Rare renal tubular disease' SubClassOf 'group of disorders' + 'Rare renal tubular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98969 Label: Macular corneal dystrophy - 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Macular corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Macular corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Macular corneal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Macular corneal dystrophy' SubClassOf 'disease' + 'Macular corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Macular corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Macular corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Macular corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Macular corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93600 Label: Primary hyperoxaluria type 3 - 'Primary hyperoxaluria type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hyperoxaluria type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 3' SubClassOf 'part_of' some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_323427 Label: inositol polyphosphate phosphatase-like 1 - 'inositol polyphosphate phosphatase-like 1' SubClassOf 'gene' - 'inositol polyphosphate phosphatase-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Opsismodysplasia' + 'inositol polyphosphate phosphatase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'inositol polyphosphate phosphatase-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Opsismodysplasia' + 'inositol polyphosphate phosphatase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231040 Label: Familial generalized lentiginosis - 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial generalized lentiginosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial generalized lentiginosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial generalized lentiginosis' SubClassOf 'disease' + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial generalized lentiginosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93606 Label: Nephrogenic syndrome of inappropriate antidiuresis - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93605 Label: Classic Bartter syndrome - 'Classic Bartter syndrome' SubClassOf 'part_of' some 'Bartter syndrome' - 'Classic Bartter syndrome' SubClassOf 'clinical subtype' - 'Classic Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Classic Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Classic Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Classic Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic Bartter syndrome' SubClassOf 'clinical subtype' + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_93608 Label: Autosomal dominant distal renal tubular acidosis - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'part_of' some 'Distal renal tubular acidosis' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'clinical subtype' + 'Autosomal dominant distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal renal tubular acidosis' + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93607 Label: Autosomal recessive proximal renal tubular acidosis - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'clinical subtype' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'part_of' some 'Proximal renal tubular acidosis' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'clinical subtype' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal renal tubular acidosis' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159608 Label: ferritin, heavy polypeptide 1 - 'ferritin, heavy polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FTH1-related iron overload' - 'ferritin, heavy polypeptide 1' SubClassOf 'gene' + 'ferritin, heavy polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FTH1-related iron overload' + 'ferritin, heavy polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ferritin, heavy polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98983 Label: Congenital cataract, Volkmann type - 'Congenital cataract, Volkmann type' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Congenital cataract, Volkmann type' SubClassOf 'clinical subtype' - 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital cataract, Volkmann type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Congenital cataract, Volkmann type' SubClassOf 'clinical subtype' + 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98984 Label: Pulverulent cataract - 'Pulverulent cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pulverulent cataract' SubClassOf 'clinical subtype' + 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pulverulent cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pulverulent cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2295 Label: Ehlers-Danlos syndrome type 11 - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'disease' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_prevalence' some 'Unknown' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ehlers-Danlos syndrome type 11' SubClassOf 'disease' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98985 Label: Cataract with Y-shaped suture opacities - 'Cataract with Y-shaped suture opacities' SubClassOf 'clinical subtype' - 'Cataract with Y-shaped suture opacities' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cataract with Y-shaped suture opacities' SubClassOf 'clinical subtype' + 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract with Y-shaped suture opacities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2292 Label: Congenital bowing of long bones - 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital bowing of long bones' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Congenital bowing of long bones' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital bowing of long bones' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bowing of long bones' SubClassOf 'morphological anomaly' - 'Congenital bowing of long bones' SubClassOf 'part_of' some 'Congenital deformities of limbs' + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of limbs' + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital bowing of long bones' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bowing of long bones' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98986 Label: Coppock-like cataract - 'Coppock-like cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Coppock-like cataract' SubClassOf 'clinical subtype' - 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coppock-like cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Coppock-like cataract' SubClassOf 'clinical subtype' + 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_332111 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial multiple meningioma' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2298 Label: Insulin-resistance syndrome type B - 'Insulin-resistance syndrome type B' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Insulin-resistance syndrome type B' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Insulin-resistance syndrome type B' SubClassOf 'disease' - 'Insulin-resistance syndrome type B' SubClassOf 'has_inheritance' some 'sporadic' - 'Insulin-resistance syndrome type B' SubClassOf 'has_prevalence' some 'Unknown' + 'Insulin-resistance syndrome type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Insulin-resistance syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Insulin-resistance syndrome type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Insulin-resistance syndrome type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98980 Label: Cogan-Reese syndrome - 'Cogan-Reese syndrome' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' - 'Cogan-Reese syndrome' SubClassOf 'clinical subtype' + 'Cogan-Reese syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' + 'Cogan-Reese syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2299 Label: Aortic arch interruption - 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aortic arch interruption' SubClassOf 'has_inheritance' some 'sporadic' - 'Aortic arch interruption' SubClassOf 'part_of' some 'Aortic malformation' - 'Aortic arch interruption' SubClassOf 'has_prevalence' some 'Unknown' - 'Aortic arch interruption' SubClassOf 'morphological anomaly' + 'Aortic arch interruption' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aortic arch interruption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aortic arch interruption' SubClassOf 'morphological anomaly' + 'Aortic arch interruption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_98981 Label: Essential iris atrophy - 'Essential iris atrophy' SubClassOf 'clinical subtype' - 'Essential iris atrophy' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' + 'Essential iris atrophy' SubClassOf 'clinical subtype' + 'Essential iris atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122340 Label: guanylate cyclase 2D, membrane (retina-specific) - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'gene' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2297 Label: Insulin-resistance syndrome type A - 'Insulin-resistance syndrome type A' SubClassOf 'has_prevalence' some 'Unknown' - 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Insulin-resistance syndrome type A' SubClassOf 'disease' - 'Insulin-resistance syndrome type A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Insulin-resistance syndrome type A' SubClassOf 'disease' + 'Insulin-resistance syndrome type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1207 Label: Pulmonary atresia with ventricular septal defect - 'Pulmonary atresia with ventricular septal defect' SubClassOf 'morphological anomaly' - 'Pulmonary atresia with ventricular septal defect' SubClassOf 'part_of' some 'Conotruncal heart malformations' + 'Pulmonary atresia with ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Pulmonary atresia with ventricular septal defect' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1205 Label: Mitral atresia - 'Mitral atresia' SubClassOf 'morphological anomaly' - 'Mitral atresia' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' + 'Mitral atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Mitral atresia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1203 Label: Duodenal atresia - 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Duodenal atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Duodenal atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Duodenal atresia' SubClassOf 'morphological anomaly' - 'Duodenal atresia' SubClassOf 'part_of' some 'Non-syndromic gastroduodenal malformation' - 'Duodenal atresia' SubClassOf 'has_inheritance' some 'sporadic' + 'Duodenal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410172) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic gastroduodenal malformation' + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf 'morphological anomaly' + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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(http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1202 Label: Larynx atresia - 'Larynx atresia' SubClassOf 'has_prevalence' some 'Unknown' - 'Larynx atresia' SubClassOf 'malformation syndrome' - 'Larynx atresia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Larynx atresia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Larynx atresia' SubClassOf 'part_of' some 'Larynx anomaly' + 'Larynx atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Larynx atresia' SubClassOf 'malformation syndrome' + 'Larynx atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Larynx atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217055 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'part_of' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1201 Label: Atresia of small intestine - 'Atresia of small intestine' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'sporadic' - 'Atresia of small intestine' SubClassOf 'part_of' some 'Primary short bowel syndrome' - 'Atresia of small intestine' SubClassOf 'morphological anomaly' - 'Atresia of small intestine' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Atresia of small intestine' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value 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some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Atresia of small intestine' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf 'has_inheritance' some 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http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217052 Label: Early-onset non-syndromic cataract - 'Early-onset non-syndromic cataract' SubClassOf 'disease' - 'Early-onset non-syndromic cataract' SubClassOf 'part_of' some 'Rare non-syndromic cataract' + 'Early-onset non-syndromic cataract' SubClassOf 'disease' + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1200 Label: Choanal atresia-deafness-cardiac defects-dysmorphism syndrome - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217059 Label: Isolated congenital digital clubbing - 'Isolated congenital digital clubbing' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated congenital digital clubbing' SubClassOf 'part_of' some 'Joint formation defects' - 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated congenital digital clubbing' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenital digital clubbing' SubClassOf 'morphological anomaly' + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated congenital digital clubbing' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231031 Label: Erythema palmaris hereditarium - 'Erythema palmaris hereditarium' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Erythema palmaris hereditarium' SubClassOf 'disease' - 'Erythema palmaris hereditarium' SubClassOf 'has_prevalence' some 'Unknown' - 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Erythema palmaris hereditarium' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Erythema palmaris hereditarium' SubClassOf 'disease' + 'Erythema palmaris hereditarium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Erythema palmaris hereditarium' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363611 Label: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'disease' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'disease' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_323471 Label: multiple PDZ domain protein - 'multiple PDZ domain protein' SubClassOf 'gene' - 'multiple PDZ domain protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital communicating hydrocephalus' + 'multiple PDZ domain protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital communicating hydrocephalus' + 'multiple PDZ domain protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple PDZ domain protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228254 Label: Elastoma - 'Elastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Elastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Elastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Elastoma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastoma' SubClassOf 'disease' + 'Elastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Elastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Elastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_241999 Label: solute carrier organic anion transporter family, member 1B1 - 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' - 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'gene' + 'solute carrier organic anion transporter family, member 1B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier organic anion transporter family, member 1B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' Class: http://www.orpha.net/ORDO/Orphanet_321333 Label: DNA-damage-inducible transcript 3 - 'DNA-damage-inducible transcript 3' SubClassOf 'gene' - 'DNA-damage-inducible transcript 3' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'DNA-damage-inducible transcript 3' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'DNA-damage-inducible transcript 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DNA-damage-inducible transcript 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98977 Label: Juvenile glaucoma - 'Juvenile glaucoma' SubClassOf 'disease' - 'Juvenile glaucoma' SubClassOf 'part_of' some 'Primary glaucoma' - 'Juvenile glaucoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile glaucoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Juvenile glaucoma' SubClassOf 'disease' + 'Juvenile glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Juvenile glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_2291 Label: Congenital velopharyngeal incompetence - 'Congenital velopharyngeal incompetence' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital velopharyngeal incompetence' SubClassOf 'malformation syndrome' + 'Congenital velopharyngeal incompetence' SubClassOf 'malformation syndrome' + 'Congenital velopharyngeal incompetence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98976 Label: Congenital glaucoma - 'Congenital glaucoma' SubClassOf 'disease' - 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital glaucoma' SubClassOf 'part_of' some 'Primary glaucoma' - 'Congenital glaucoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glaucoma' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf 'disease' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210141 Label: Inherited congenital spastic tetraplegia - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Inherited congenital spastic tetraplegia' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inherited congenital spastic tetraplegia' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Inherited congenital spastic tetraplegia' SubClassOf 'disease' - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Inherited congenital spastic tetraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Inherited congenital spastic tetraplegia' SubClassOf 'disease' + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2290 Label: Microvillus inclusion disease - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' - 'Microvillus inclusion disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microvillus inclusion disease' SubClassOf 'disease' - 'Microvillus inclusion disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf 'disease' + 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' + 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microvillus inclusion disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_98979 Label: Chandler syndrome - 'Chandler syndrome' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' - 'Chandler syndrome' SubClassOf 'clinical subtype' + 'Chandler syndrome' SubClassOf 'clinical subtype' + 'Chandler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281391 Label: proteasome maturation protein - 'proteasome maturation protein' SubClassOf 'gene' - 'proteasome maturation protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' + 'proteasome maturation protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.13"^^http://www.w3.org/2001/XMLSchema#string + 'proteasome maturation protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proteasome maturation protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210144 Label: Lethal polymalformative syndrome, Boissel type - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'malformation syndrome' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'malformation syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98978 Label: Axenfeld anomaly - 'Axenfeld anomaly' SubClassOf 'morphological anomaly' - 'Axenfeld anomaly' SubClassOf 'part_of' some 'Goniodysgenesis' + 'Axenfeld anomaly' SubClassOf 'morphological anomaly' + 'Axenfeld anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Goniodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_98994 Label: Total congenital cataract - 'Total congenital cataract' SubClassOf 'clinical subtype' - 'Total congenital cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total congenital cataract' SubClassOf 'clinical subtype' + 'Total congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_75501 Label: Ehlers-Danlos syndrome, fibronectinemic type - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98995 Label: Zonular cataract - 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zonular cataract' SubClassOf 'clinical subtype' - 'Zonular cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' + 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zonular cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zonular cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98992 Label: Partial congenital cataract - 'Partial congenital cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Partial congenital cataract' SubClassOf 'clinical subtype' + 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Partial congenital cataract' SubClassOf 'clinical subtype' + 'Partial congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98993 Label: Posterior polar cataract - 'Posterior polar cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Posterior polar cataract' SubClassOf 'clinical subtype' - 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Posterior polar cataract' SubClassOf 'clinical subtype' + 'Posterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98990 Label: Coralliform cataract - 'Coralliform cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coralliform cataract' SubClassOf 'clinical subtype' + 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Coralliform cataract' SubClassOf 'clinical subtype' + 'Coralliform cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98991 Label: Nuclear cataract - 'Nuclear cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nuclear cataract' SubClassOf 'clinical subtype' + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Nuclear cataract' SubClassOf 'clinical subtype' + 'Nuclear cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122352 Label: glucuronidase, beta - 'glucuronidase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 7' - 'glucuronidase, beta' SubClassOf 'gene' + 'glucuronidase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucuronidase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'glucuronidase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 7' Class: http://www.orpha.net/ORDO/Orphanet_1216 Label: Autosomal dominant congenital benign spinal muscular atrophy - 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'disease' - 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' + 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_332108 Label: Ets2 repressor factor - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated scaphocephaly' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial lambdoid synostosis' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crouzon disease' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cloverleaf skull syndrome' - 'Ets2 repressor factor' SubClassOf 'gene' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cloverleaf skull syndrome' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated scaphocephaly' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial lambdoid synostosis' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Crouzon disease' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122354 Label: glycogen synthase 2 (liver) - 'glycogen synthase 2 (liver)' SubClassOf 'gene' - 'glycogen synthase 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to hepatic glycogen synthase deficiency' + 'glycogen synthase 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.2-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycogen synthase 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to hepatic glycogen synthase deficiency' + 'glycogen synthase 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1215 Label: Autosomal dominant optic atrophy plus syndrome - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_228264 Label: Papular elastorrhexis - 'Papular elastorrhexis' SubClassOf 'disease' - 'Papular elastorrhexis' SubClassOf 'has_inheritance' some 'sporadic' - 'Papular elastorrhexis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Papular elastorrhexis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Papular elastorrhexis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Papular elastorrhexis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Papular elastorrhexis' SubClassOf 'disease' + 'Papular elastorrhexis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Papular elastorrhexis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Papular elastorrhexis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_122356 Label: hydroxyacyl-CoA dehydrogenase - 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' - 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'gene' + 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22-q26"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxyacyl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1217 Label: Spinal atrophy - ophthalmoplegia - pyramidal syndrome - 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'part_of' some 'Generalized bulbospinal muscular atrophy' - 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'disease' + 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized bulbospinal muscular atrophy' + 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363618 Label: LMNA-related cardiocutaneous progeria syndrome - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Rare genetic cardiac disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Rare cardiac disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac disease' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'disease' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_1214 Label: Progressive hemifacial atrophy - 'Progressive hemifacial atrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive hemifacial atrophy' SubClassOf 'disease' - 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Progressive hemifacial atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive hemifacial atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Brain inflammatory disease' + 'Progressive hemifacial atrophy' SubClassOf 'disease' + 'Progressive hemifacial atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Progressive hemifacial atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_217046 Label: Autosomal recessive childhood-onset cortical cataract - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'clinical subtype' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_210136 Label: Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'disease' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'disease' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1208 Label: Pulmonary atresia - intact ventricular septum - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'morphological anomaly' - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'part_of' some 'Hypoplastic right heart syndrome' + 'Pulmonary atresia - intact ventricular septum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary atresia - intact ventricular septum' SubClassOf 'morphological anomaly' + 'Pulmonary atresia - intact ventricular septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Pulmonary atresia - intact ventricular septum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary atresia - intact ventricular septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoplastic right heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363623 Label: Autosomal recessive limb-girdle muscular dystrophy type 2T - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1209 Label: Tricuspid atresia - 'Tricuspid atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tricuspid atresia' SubClassOf 'morphological anomaly' - 'Tricuspid atresia' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Tricuspid atresia' SubClassOf 'has_inheritance' some 'sporadic' + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf 'morphological anomaly' + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Tricuspid atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217049 Label: Rare non-syndromic cataract - 'Rare non-syndromic cataract' SubClassOf 'group of disorders' + 'Rare non-syndromic cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229717 Label: Isolated agammaglobulinemia - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated agammaglobulinemia' SubClassOf 'part_of' some 'Agammaglobulinemia' - 'Isolated agammaglobulinemia' SubClassOf 'disease' - 'Isolated agammaglobulinemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Agammaglobulinemia' + 'Isolated agammaglobulinemia' SubClassOf 'disease' + 'Isolated agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210133 Label: Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'disease' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'disease' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98989 Label: Cerulean cataract - 'Cerulean cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cerulean cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' - 'Cerulean cataract' SubClassOf 'clinical subtype' + 'Cerulean cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' + 'Cerulean cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cerulean cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98988 Label: Anterior polar cataract - 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anterior polar cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Anterior polar cataract' SubClassOf 'clinical subtype' + 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anterior polar cataract' SubClassOf 'clinical subtype' + 'Anterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98987 Label: Cataract, Hutterite type - 'Cataract, Hutterite type' SubClassOf 'clinical subtype' - 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract, Hutterite type' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' + 'Cataract, Hutterite type' SubClassOf 'clinical subtype' + 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_35981 Label: Polymicrogyria - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Polymicrogyria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'sporadic' - 'Polymicrogyria' SubClassOf 'group of disorders' - 'Polymicrogyria' SubClassOf 'has_prevalence' some 'Unknown' + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polymicrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Polymicrogyria' SubClassOf 'group of disorders' + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_183770 Label: Rare genetic immune disease - 'Rare genetic immune disease' SubClassOf 'group of disorders' + 'Rare genetic immune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122364 Label: hepcidin antimicrobial peptide - 'hepcidin antimicrobial peptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' - 'hepcidin antimicrobial peptide' SubClassOf 'gene' + 'hepcidin antimicrobial peptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hepcidin antimicrobial peptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' + 'hepcidin antimicrobial peptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2274 Label: Ichthyosis - hepatosplenomegaly - cerebellar degeneration - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122361 Label: histidine ammonia-lyase - 'histidine ammonia-lyase' SubClassOf 'gene' - 'histidine ammonia-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histidinemia' + 'histidine ammonia-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'histidine ammonia-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histidine ammonia-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histidinemia' Class: http://www.orpha.net/ORDO/Orphanet_2272 Label: Ichthyosis - oral and digital anomalies - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ichthyosis - oral and digital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2273 Label: Ichthyosis follicularis - alopecia - photophobia - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'sporadic' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'X-linked ichthyosis syndrome' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'Alopecia' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'disease' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked ichthyosis syndrome' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183757 Label: Rare genetic intellectual disability - 'Rare genetic intellectual disability' SubClassOf 'group of disorders' + 'Rare genetic intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2271 Label: Congenital ichthyosis - microcephalus - tetraplegia - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'disease' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'disease' + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' Class: http://www.orpha.net/ORDO/Orphanet_400025 Label: Female infertility due to an implantation defect of genetic origin - 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217031 Label: Obesity due to MC3R deficiency - 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity due to MC3R deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' - 'Obesity due to MC3R deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity due to MC3R deficiency' SubClassOf 'disease' + 'Obesity due to MC3R deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to MC3R deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to MC3R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_400022 Label: Rare female infertility due to an anomaly of ovarian function of genetic origin - 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2278 Label: Ichthyosis - intellectual disability - dwarfism - renal impairment - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'malformation syndrome' - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210128 Label: Urocanic aciduria - 'Urocanic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Urocanic aciduria' SubClassOf 'disease' - 'Urocanic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Urocanic aciduria' SubClassOf 'part_of' some 'Disorder of histidine metabolism' + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of histidine metabolism' + 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Urocanic aciduria' SubClassOf 'disease' + 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Urocanic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Urocanic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_324581 Label: Benign Samaritan congenital myopathy - 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Benign Samaritan congenital myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Benign Samaritan congenital myopathy' SubClassOf 'disease' - 'Benign Samaritan congenital myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Benign Samaritan congenital myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Benign Samaritan congenital myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Benign Samaritan congenital myopathy' SubClassOf 'disease' + 'Benign Samaritan congenital myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Benign Samaritan congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324588 Label: Familial dyskinesia and facial myokymia - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial dyskinesia and facial myokymia' SubClassOf 'part_of' some 'Rare paroxysmal movement disorder' - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial dyskinesia and facial myokymia' SubClassOf 'disease' - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial dyskinesia and facial myokymia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare paroxysmal movement disorder' + 'Familial dyskinesia and facial myokymia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial dyskinesia and facial myokymia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial dyskinesia and facial myokymia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial dyskinesia and facial myokymia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178082 Label: radial spoke head 4 homolog A (Chlamydomonas) - 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'gene' - 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228236 Label: Linear focal dermal elastosis - 'Linear focal dermal elastosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Linear focal dermal elastosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Linear focal dermal elastosis' SubClassOf 'disease' - 'Linear focal dermal elastosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Linear focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Linear focal dermal elastosis' SubClassOf 'disease' + 'Linear focal dermal elastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Linear focal dermal elastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Linear focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Linear focal dermal elastosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324585 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231013 Label: Congenital trigeminal anesthesia - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Neuro-ophthalmological disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Genetic neuro-ophthalmological disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Congenital trigeminal anesthesia' SubClassOf 'disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuro-ophthalmological disease' + 'Congenital trigeminal anesthesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital trigeminal anesthesia' SubClassOf 'disease' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_210122 Label: Congenital alveolar capillary dysplasia - 'Congenital alveolar capillary dysplasia' SubClassOf 'disease' - 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital alveolar capillary dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital alveolar capillary dysplasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - 'Congenital alveolar capillary dysplasia' SubClassOf 'part_of' some 'Genetic interstitial lung disease' + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital alveolar capillary dysplasia' SubClassOf 'disease' + 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital alveolar capillary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital alveolar capillary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183763 Label: Rare genetic intellectual disability with developmental anomaly - 'Rare genetic intellectual disability with developmental anomaly' SubClassOf 'group of disorders' + 'Rare genetic intellectual disability with developmental anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217467 Label: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'disease' + 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_2285 Label: Primary basilar impression - 'Primary basilar impression' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary basilar impression' SubClassOf 'part_of' some 'Medullar disease' - 'Primary basilar impression' SubClassOf 'morphological anomaly' - 'Primary basilar impression' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary basilar impression' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary basilar impression' SubClassOf 'part_of' some 'Rare genetic medullar disease' + 'Primary basilar impression' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary basilar impression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' + 'Primary basilar impression' SubClassOf 'morphological anomaly' + 'Primary basilar impression' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary basilar impression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_2286 Label: Solitary median maxillary central incisor syndrome - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'clinical subtype' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'clinical subtype' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Solitary median maxillary central incisor syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2287 Label: Fused mandibular incisors - 'Fused mandibular incisors' SubClassOf 'morphological anomaly' - 'Fused mandibular incisors' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Fused mandibular incisors' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122374 Label: hemoglobin, alpha 2 - 'hemoglobin, alpha 2' SubClassOf 'gene' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, alpha 2' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' + 'hemoglobin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, alpha 2' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_400018 Label: Rare female infertility due to adrenal disorder of genetic origin - 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2282 Label: Dysmorphism - short stature - deafness - disorder of sex development - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'malformation syndrome' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'malformation syndrome' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122370 Label: HCLS1 associated protein X-1 - 'HCLS1 associated protein X-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kostmann syndrome' - 'HCLS1 associated protein X-1' SubClassOf 'gene' + 'HCLS1 associated protein X-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kostmann syndrome' + 'HCLS1 associated protein X-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HCLS1 associated protein X-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_400011 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2289 Label: Neuronal intranuclear inclusion disease - 'Neuronal intranuclear inclusion disease' SubClassOf 'disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare dementia' - 'Neuronal intranuclear inclusion disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf 'disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122376 Label: hemoglobin, beta - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heinz body anemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin D disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia intermedia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - beta-thalassemia disease' - 'hemoglobin, beta' SubClassOf 'gene' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell anemia' - 'hemoglobin, beta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin C disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin D disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin E disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia major' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heinz body anemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia intermedia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin D disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E - beta-thalassemia' + 'hemoglobin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - beta-thalassemia disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell anemia' + 'hemoglobin, beta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin C disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin D disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin E disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia major' Class: http://www.orpha.net/ORDO/Orphanet_122378 Label: holocytochrome c synthase - 'holocytochrome c synthase' SubClassOf 'gene' - 'holocytochrome c synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' + 'holocytochrome c synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'holocytochrome c synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'holocytochrome c synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228240 Label: Elastoderma - 'Elastoderma' SubClassOf 'disease' - 'Elastoderma' SubClassOf 'has_inheritance' some 'sporadic' - 'Elastoderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Elastoderma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastoderma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Elastoderma' SubClassOf 'disease' + 'Elastoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Elastoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Elastoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Elastoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_228243 Label: Elastofibroma dorsi - 'Elastofibroma dorsi' SubClassOf 'disease' - 'Elastofibroma dorsi' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastofibroma dorsi' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Elastofibroma dorsi' SubClassOf 'has_inheritance' some 'sporadic' + 'Elastofibroma dorsi' SubClassOf 'disease' + 'Elastofibroma dorsi' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastofibroma dorsi' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Elastofibroma dorsi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_210115 Label: Sterile multifocal osteomyelitis with periostitis and pustulosis - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'disease' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'disease' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_217023 Label: Atypical hemolytic-uremic syndrome with thrombomodulin anomaly - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217026 Label: Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'malformation syndrome' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'malformation syndrome' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_323464 Label: zinc finger protein 141 - 'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' - 'zinc finger protein 141' SubClassOf 'gene' + 'zinc finger protein 141' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' + 'zinc finger protein 141' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228247 Label: Acquired pseudoxanthoma elasticum - 'Acquired pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'disease' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acquired pseudoxanthoma elasticum' SubClassOf 'disease' + 'Acquired pseudoxanthoma elasticum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_210110 Label: Intermediate osteopetrosis - 'Intermediate osteopetrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intermediate osteopetrosis' SubClassOf 'malformation syndrome' - 'Intermediate osteopetrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intermediate osteopetrosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Intermediate osteopetrosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Intermediate osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intermediate osteopetrosis' SubClassOf 'malformation syndrome' + 'Intermediate osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermediate osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_159590 Label: fragile X mental retardation associated 3 - 'fragile X mental retardation associated 3' SubClassOf 'gene' - 'fragile X mental retardation associated 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' + 'fragile X mental retardation associated 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'fragile X mental retardation associated 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'fragile X mental retardation associated 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93589 Label: Late-onset autosomal recessive medullary cystic kidney disease - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_93587 Label: Familial cystic renal disease - 'Familial cystic renal disease' SubClassOf 'group of disorders' + 'Familial cystic renal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363665 Label: Acroosteolysis-keloid-like lesions-premature aging syndrome - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'disease' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'disease' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228221 Label: Acquired dermis elastic tissue disorder with decreased elastic tissue - 'Acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294049 Label: Reunion island's Larsen syndrome - 'Reunion island's Larsen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Reunion island's Larsen syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Reunion island's Larsen syndrome' SubClassOf 'disease' - 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Reunion island's Larsen syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Reunion island's Larsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Reunion island's Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Reunion island's Larsen syndrome' SubClassOf 'disease' + 'Reunion island's Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_228224 Label: Acquired dermis elastic tissue disorder with increased elastic tissue - 'Acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220489 Label: Rare hereditary hemochromatosis - 'Rare hereditary hemochromatosis' SubClassOf 'group of disorders' + 'Rare hereditary hemochromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rare hereditary hemochromatosis' SubClassOf 'group of disorders' + 'Rare hereditary hemochromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare hereditary hemochromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_160001 Label: dystonia 13, torsion - 'dystonia 13, torsion' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT13 type' - 'dystonia 13, torsion' SubClassOf 'gene' + 'dystonia 13, torsion' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT13 type' + 'dystonia 13, torsion' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 13, torsion' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_356123 Label: DnaJ (Hsp40) homolog, subfamily C, member 6 - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'gene' - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228227 Label: Late-onset focal dermal elastosis - 'Late-onset focal dermal elastosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Late-onset focal dermal elastosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Late-onset focal dermal elastosis' SubClassOf 'disease' - 'Late-onset focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Late-onset focal dermal elastosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Late-onset focal dermal elastosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Late-onset focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Late-onset focal dermal elastosis' SubClassOf 'disease' + 'Late-onset focal dermal elastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Late-onset focal dermal elastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_160003 Label: cytochrome P450, family 4, subfamily F, polypeptide 22 - 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'gene' + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_141099 Label: Proboscis lateralis - 'Proboscis lateralis' SubClassOf 'has_prevalence' some 'Unknown' - 'Proboscis lateralis' SubClassOf 'malformation syndrome' - 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proboscis lateralis' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Proboscis lateralis' SubClassOf 'malformation syndrome' + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Proboscis lateralis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_363659 Label: 20q11.2 microduplication syndrome - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 20' - '20q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 20' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '20q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2388 Label: Choreoacanthocytosis - 'Choreoacanthocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Choreoacanthocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Choreoacanthocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Choreoacanthocytosis' SubClassOf 'disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Choreoacanthocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Choreoacanthocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Choreoacanthocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141091 Label: Polyrrhinia - 'Polyrrhinia' SubClassOf 'malformation syndrome' - 'Polyrrhinia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Polyrrhinia' SubClassOf 'has_prevalence' some 'Unknown' - 'Polyrrhinia' SubClassOf 'has_inheritance' some 'sporadic' - 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polyrrhinia' SubClassOf 'malformation syndrome' + 'Polyrrhinia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polyrrhinia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2387 Label: Leukonychia totalis - 'Leukonychia totalis' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Leukonychia totalis' SubClassOf 'disease' + 'Leukonychia totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Leukonychia totalis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2386 Label: Leukoencephalopathy-palmoplantar keratoderma syndrome - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93593 Label: Nephropathy secondary to a storage or other metabolic disease - 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'group of disorders' + 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93594 Label: Alpha-1-antichymotrypsin deficiency - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_93591 Label: Infantile autosomal recessive medullary cystic kidney disease - 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' - 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' + 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159592 Label: fibronectin 1 - 'fibronectin 1' SubClassOf 'gene' - 'fibronectin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibronectin glomerulopathy' + 'fibronectin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'fibronectin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibronectin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibronectin glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_93592 Label: Juvenile autosomal recessive medullary cystic kidney disease - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2382 Label: Lennox-Gastaut syndrome - 'Lennox-Gastaut syndrome' SubClassOf 'disease' - 'Lennox-Gastaut syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Lennox-Gastaut syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Lennox-Gastaut syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Lennox-Gastaut syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Lennox-Gastaut syndrome' SubClassOf 'disease' + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Lennox-Gastaut syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lennox-Gastaut syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_141096 Label: Supernumerary nostril - 'Supernumerary nostril' SubClassOf 'malformation syndrome' - 'Supernumerary nostril' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Supernumerary nostril' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Supernumerary nostril' SubClassOf 'malformation syndrome' + 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Supernumerary nostril' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Supernumerary nostril' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2380 Label: Legg-Calv�-Perthes disease - 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some 'Osteochondrosis' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Legg-Calv�-Perthes disease' SubClassOf 'disease' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Legg-Calv�-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Legg-Calv�-Perthes disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Legg-Calv�-Perthes disease' SubClassOf 'disease' + 'Legg-Calv�-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_303168 Label: LPS-responsive vesicle trafficking, beach and anchor containing - 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'gene' + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225264 Label: latent transforming growth factor beta binding protein 4 - 'latent transforming growth factor beta binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' - 'latent transforming growth factor beta binding protein 4' SubClassOf 'Modifying germline mutation in' some 'Duchenne muscular dystrophy' - 'latent transforming growth factor beta binding protein 4' SubClassOf 'gene' + 'latent transforming growth factor beta binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' + 'latent transforming growth factor beta binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'latent transforming growth factor beta binding protein 4' SubClassOf 'Modifying germline mutation in' some 'Duchenne muscular dystrophy' + 'latent transforming growth factor beta binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95626 Label: Acquired central diabetes insipidus - 'Acquired central diabetes insipidus' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired central diabetes insipidus' SubClassOf 'part_of' some 'Central diabetes insipidus' - 'Acquired central diabetes insipidus' SubClassOf 'clinical subtype' - 'Acquired central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acquired central diabetes insipidus' SubClassOf 'clinical subtype' + 'Acquired central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central diabetes insipidus' + 'Acquired central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_228218 Label: Acquired dermis elastic tissue disorder - 'Acquired dermis elastic tissue disorder' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93598 Label: Primary hyperoxaluria type 1 - 'Primary hyperoxaluria type 1' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Primary hyperoxaluria type 1' SubClassOf 'part_of' some 'Primary hyperoxaluria' - 'Primary hyperoxaluria type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary hyperoxaluria type 1' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' - 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Primary hyperoxaluria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.015"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93599 Label: Primary hyperoxaluria type 2 - 'Primary hyperoxaluria type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hyperoxaluria type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary hyperoxaluria type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 2' SubClassOf 'part_of' some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary hyperoxaluria type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_363654 Label: X-linked parkinsonism-spasticity syndrome - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'disease' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_356136 Label: mitochondrial ribosomal protein L44 - 'mitochondrial ribosomal protein L44' SubClassOf 'gene' - 'mitochondrial ribosomal protein L44' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' + 'mitochondrial ribosomal protein L44' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3-p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein L44' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' + 'mitochondrial ribosomal protein L44' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228215 Label: Genetic dermis elastic tissue disorder - 'Genetic dermis elastic tissue disorder' SubClassOf 'group of disorders' + 'Genetic dermis elastic tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160006 Label: retina and anterior neural fold homeobox - 'retina and anterior neural fold homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'retina and anterior neural fold homeobox' SubClassOf 'gene' + 'retina and anterior neural fold homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retina and anterior neural fold homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'retina and anterior neural fold homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2378 Label: Laurin-Sandrow syndrome - 'Laurin-Sandrow syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Laurin-Sandrow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Laurin-Sandrow syndrome' SubClassOf 'malformation syndrome' + 'Laurin-Sandrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Laurin-Sandrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Laurin-Sandrow syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363649 Label: Mandibular hypoplasia-deafness-progeroid syndrome - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'disease' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2377 Label: Laurence-Moon syndrome - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Laurence-Moon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laurence-Moon syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Laurence-Moon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Laurence-Moon syndrome' SubClassOf 'malformation syndrome' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Laurence-Moon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf 'malformation syndrome' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Laurence-Moon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_160008 Label: A kinase (PRKA) anchor protein 9 - 'A kinase (PRKA) anchor protein 9' SubClassOf 'gene' - 'A kinase (PRKA) anchor protein 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'A kinase (PRKA) anchor protein 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'A kinase (PRKA) anchor protein 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'A kinase (PRKA) anchor protein 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2379 Label: Early-onset parkinsonism - intellectual disability - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf 'disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Early-onset parkinsonism - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2374 Label: Congenital laryngeal web - 'Congenital laryngeal web' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital laryngeal web' SubClassOf 'malformation syndrome' + 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Congenital laryngeal web' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2373 Label: Congenital laryngomalacia - 'Congenital laryngomalacia' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital laryngomalacia' SubClassOf 'malformation syndrome' + 'Congenital laryngomalacia' SubClassOf 'malformation syndrome' + 'Congenital laryngomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2375 Label: Laryngeal abductor paralysis - intellectual disability - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'malformation syndrome' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'malformation syndrome' + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_332034 Label: T-box 6 - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spondylocostal dysostosis' - 'T-box 6' SubClassOf 'gene' - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' + 'T-box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spondylocostal dysostosis' + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2370 Label: Larsen-like osseous dysplasia - short stature - 'Larsen-like osseous dysplasia - short stature' SubClassOf 'malformation syndrome' - 'Larsen-like osseous dysplasia - short stature' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Larsen-like osseous dysplasia - short stature' SubClassOf 'malformation syndrome' + 'Larsen-like osseous dysplasia - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_2372 Label: Laryngocele - 'Laryngocele' SubClassOf 'malformation syndrome' - 'Laryngocele' SubClassOf 'part_of' some 'Larynx anomaly' + 'Laryngocele' SubClassOf 'malformation syndrome' + 'Laryngocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217454 Label: Rare hereditary thrombophilia - 'Rare hereditary thrombophilia' SubClassOf 'group of disorders' + 'Rare hereditary thrombophilia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2371 Label: Lethal Larsen-like syndrome - 'Lethal Larsen-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal Larsen-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal Larsen-like syndrome' SubClassOf 'malformation syndrome' - 'Lethal Larsen-like syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Lethal Larsen-like syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' + 'Lethal Larsen-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Lethal Larsen-like syndrome' SubClassOf 'malformation syndrome' + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Lethal Larsen-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183675 Label: Recurrent infections associated with rare immunoglobulin isotypes deficiency - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'group of disorders' - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'group of disorders' + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_352687 Label: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'group of disorders' + 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93564 Label: Pediatric polyarteritis nodosa - 'Pediatric polyarteritis nodosa' SubClassOf 'clinical subtype' - 'Pediatric polyarteritis nodosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pediatric polyarteritis nodosa' SubClassOf 'part_of' some 'Polyarteritis nodosa' + 'Pediatric polyarteritis nodosa' SubClassOf 'clinical subtype' + 'Pediatric polyarteritis nodosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pediatric polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_363680 Label: 2p13.2 microdeletion syndrome - '2p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 2' - '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2p13.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '2p13.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '2p13.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2p13.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_93569 Label: Polymyalgia rheumatica - 'Polymyalgia rheumatica' SubClassOf 'disease' - 'Polymyalgia rheumatica' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Polymyalgia rheumatica' SubClassOf 'disease' + 'Polymyalgia rheumatica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_294060 Label: Multiple pterygium syndrome - 'Multiple pterygium syndrome' SubClassOf 'group of disorders' + 'Multiple pterygium syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93568 Label: Juvenile polymyositis - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Juvenile polymyositis' SubClassOf 'disease' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Juvenile idiopathic inflammatory myopathy' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Juvenile polymyositis' SubClassOf 'disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_57782 Label: Mazabraud syndrome - 'Mazabraud syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Mazabraud syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Mazabraud syndrome' SubClassOf 'malformation syndrome' - 'Mazabraud syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mazabraud syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mazabraud syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mazabraud syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Mazabraud syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mazabraud syndrome' SubClassOf 'malformation syndrome' + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_352682 Label: Cobblestone lissencephaly without muscular or ocular involvement - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'part_of' some 'Cobblestone lissencephaly' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'disease' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cobblestone lissencephaly' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'disease' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_363686 Label: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'disease' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'disease' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_356141 Label: additional sex combs like transcriptional regulator 3 - 'additional sex combs like transcriptional regulator 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' - 'additional sex combs like transcriptional regulator 3' SubClassOf 'gene' + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11"^^http://www.w3.org/2001/XMLSchema#string + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160020 Label: anaplastic lymphoma receptor tyrosine kinase - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'ALK-positive anaplastic large cell lymphoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'gene' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'ALK-positive large B-cell lymphoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Neuroblastoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'ALK-positive anaplastic large cell lymphoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'ALK-positive large B-cell lymphoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_2369 Label: Limb body wall complex - 'Limb body wall complex' SubClassOf 'has_inheritance' some 'sporadic' - 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Limb body wall complex' SubClassOf 'malformation syndrome' - 'Limb body wall complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Limb body wall complex' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Limb body wall complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Limb body wall complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limb body wall complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Limb body wall complex' SubClassOf 'malformation syndrome' + 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Limb body wall complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2368 Label: Gastroschisis - 'Gastroschisis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Gastroschisis' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' - 'Gastroschisis' SubClassOf 'morphological anomaly' - 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gastroschisis' SubClassOf 'part_of' some 'Primary short bowel syndrome' - 'Gastroschisis' SubClassOf 'has_inheritance' some 'sporadic' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'morphological anomaly' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary short bowel syndrome' + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_160018 Label: sodium channel, voltage-gated, type IV, beta subunit - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183669 Label: Agammaglobulinemia - 'Agammaglobulinemia' SubClassOf 'group of disorders' + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.205"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf 'group of disorders' + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.134"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.071"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.094"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.287"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.077"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.045"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.192"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93573 Label: Thrombotic microangiopathy - 'Thrombotic microangiopathy' SubClassOf 'group of disorders' + 'Thrombotic microangiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2364 Label: Glycogen storage disease due to lactate dehydrogenase deficiency - 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93571 Label: Dense deposit disease - 'Dense deposit disease' SubClassOf 'part_of' some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' - 'Dense deposit disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dense deposit disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Dense deposit disease' SubClassOf 'histopathological subtype' - 'Dense deposit disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dense deposit disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dense deposit disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'Dense deposit disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dense deposit disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dense deposit disease' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2363 Label: Lacrimoauriculodentodigital syndrome - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'EEC syndrome and related syndrome' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'malformation syndrome' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'EEC syndrome and related syndrome' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'malformation syndrome' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_183666 Label: Hyper-IgM syndrome without susceptibility to opportunistic infections - 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'disease' - 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_93576 Label: Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly - 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93575 Label: Atypical hemolytic-uremic syndrome with C3 anomaly - 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_57777 Label: Cirrhotic cardiomyopathy - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial dilated cardiomyopathy' - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Cirrhotic cardiomyopathy' SubClassOf 'disease' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial dilated cardiomyopathy' + 'Cirrhotic cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial hypertrophic cardiomyopathy' + 'Cirrhotic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cirrhotic cardiomyopathy' SubClassOf 'disease' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_93578 Label: Atypical hemolytic-uremic syndrome with B factor anomaly - 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281884 Label: nodal growth differentiation factor - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' - 'nodal growth differentiation factor' SubClassOf 'gene' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' + 'nodal growth differentiation factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_220493 Label: Joubert syndrome with ocular defect - 'Joubert syndrome with ocular defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'disease' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Joubert syndrome with ocular defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with ocular defect' SubClassOf 'disease' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Joubert syndrome with ocular defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_363670 Label: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha - 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'Modifying germline mutation in' some 'Amyotrophic lateral sclerosis' - 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'gene' + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'Modifying germline mutation in' some 'Amyotrophic lateral sclerosis' + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159580 Label: fibroblast growth factor 3 - 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' - 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Otodental syndrome' - 'fibroblast growth factor 3' SubClassOf 'gene' - 'fibroblast growth factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness with labyrinthine aplasia, microtia, and microdontia' + 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' + 'fibroblast growth factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Otodental syndrome' + 'fibroblast growth factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness with labyrinthine aplasia, microtia, and microdontia' Class: http://www.orpha.net/ORDO/Orphanet_225243 Label: U6 snRNA biogenesis 1 - 'U6 snRNA biogenesis 1' SubClassOf 'gene' - 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Poikiloderma with neutropenia' - 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'U6 snRNA biogenesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'U6 snRNA biogenesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Poikiloderma with neutropenia' + 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' Class: http://www.orpha.net/ORDO/Orphanet_93579 Label: Atypical hemolytic-uremic syndrome with H factor anomaly - 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_183681 Label: Functional neutrophil defect - 'Functional neutrophil defect' SubClassOf 'group of disorders' + 'Functional neutrophil defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label: nanos homolog 1 (Drosophila) - 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' - 'nanos homolog 1 (Drosophila)' SubClassOf 'gene' - 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308998 Label: Disorder of glyoxylate metabolism - 'Disorder of glyoxylate metabolism' SubClassOf 'group of disorders' + 'Disorder of glyoxylate metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294057 Label: Rare nevus - 'Rare nevus' SubClassOf 'group of disorders' + 'Rare nevus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363677 Label: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Myopathy with eye involvement' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'disease' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'disease' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myopathy with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_220497 Label: Joubert syndrome with renal defect - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with renal defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with renal defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with renal defect' SubClassOf 'disease' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with renal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with renal defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2356 Label: Arachnoid cyst - 'Arachnoid cyst' SubClassOf 'part_of' some 'Central nervous system cystic malformation' - 'Arachnoid cyst' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arachnoid cyst' SubClassOf 'has_inheritance' some 'sporadic' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Arachnoid cyst' SubClassOf 'morphological anomaly' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Pituitary hormone deficiency from meningeal origin' - 'Arachnoid cyst' SubClassOf 'has_prevalence' some 'Unknown' - 'Arachnoid cyst' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arachnoid cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arachnoid cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arachnoid cyst' SubClassOf 'morphological anomaly' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from meningeal origin' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system cystic malformation' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic central nervous system malformation' + 'Arachnoid cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2357 Label: Bronchogenic cyst - 'Bronchogenic cyst' SubClassOf 'has_prevalence' some 'Unknown' - 'Bronchogenic cyst' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Respiratory malformation' - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Bronchogenic cyst' SubClassOf 'morphological anomaly' + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Bronchogenic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Bronchogenic cyst' SubClassOf 'morphological anomaly' + 'Bronchogenic cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_308993 Label: Glycerol kinase deficiency - 'Glycerol kinase deficiency' SubClassOf 'group of disorders' + 'Glycerol kinase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93580 Label: Atypical hemolytic-uremic syndrome with I factor anomaly - 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93581 Label: Atypical hemolytic-uremic syndrome with anti-factor H antibodies - 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93583 Label: Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Rare genetic coagulation disorder' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'clinical subtype' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Thrombotic thrombocytopenic purpura' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic thrombocytopenic purpura' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'clinical subtype' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic coagulation disorder' Class: http://www.orpha.net/ORDO/Orphanet_2351 Label: Kousseff syndrome - 'Kousseff syndrome' SubClassOf 'malformation syndrome' - 'Kousseff syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kousseff syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' + 'Kousseff syndrome' SubClassOf 'malformation syndrome' + 'Kousseff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kousseff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_268795 Label: BRCA1/BRCA2-containing complex, subunit 3 - 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'gene' - 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183678 Label: Hermansky-Pudlak syndrome with neutropenia - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Immunodeficiency syndrome with hypopigmentation' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with hypopigmentation' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93585 Label: Acquired thrombotic thrombocytopenic purpura - 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'clinical subtype' - 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Thrombotic thrombocytopenic purpura' + 'Acquired thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic thrombocytopenic purpura' + 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159586 Label: four and a half LIM domains 2 - 'four and a half LIM domains 2' SubClassOf 'gene' - 'four and a half LIM domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'four and a half LIM domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'four and a half LIM domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'four and a half LIM domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2353 Label: Schilbach-Rott syndrome - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' - 'Schilbach-Rott syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schilbach-Rott syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Schilbach-Rott syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' + 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Schilbach-Rott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_90771 Label: Disorder of sex development - 'Disorder of sex development' SubClassOf 'group of disorders' + 'Disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90776 Label: 46,XX disorder of sex development induced by fetal androgens excess - '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93548 Label: Glomerular disease - 'Glomerular disease' SubClassOf 'group of disorders' + 'Glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93546 Label: Non-syndromic renal or urinary tract malformation - 'Non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352662 Label: Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'disease' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93547 Label: Syndromic renal or urinary tract malformation - 'Syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281857 Label: hemoglobin, delta - 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' - 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Delta-beta-thalassemia' - 'hemoglobin, delta' SubClassOf 'gene' + 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' + 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Delta-beta-thalassemia' + 'hemoglobin, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93545 Label: Renal or urinary tract malformation - 'Renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352665 Label: 9q21 microdeletion syndrome - '9q21 microdeletion syndrome' SubClassOf 'disease' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' - '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '9q21 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '9q21 microdeletion syndrome' SubClassOf 'disease' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' + '9q21 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_93552 Label: Pediatric systemic lupus erythematosus - 'Pediatric systemic lupus erythematosus' SubClassOf 'disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Pediatric systemic lupus erythematosus' SubClassOf 'disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_2342 Label: Haim-Munk syndrome - 'Haim-Munk syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Haim-Munk syndrome' SubClassOf 'disease' - 'Haim-Munk syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf 'disease' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal-related organelles' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Haim-Munk syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93551 Label: Secondary glomerular disease - 'Secondary glomerular disease' SubClassOf 'group of disorders' + 'Secondary glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2343 Label: Isolated cloverleaf skull syndrome - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated cloverleaf skull syndrome' SubClassOf 'morphological anomaly' - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated cloverleaf skull syndrome' SubClassOf 'part_of' some 'Isolated craniosynostosis' + 'Isolated cloverleaf skull syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated cloverleaf skull syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated cloverleaf skull syndrome' SubClassOf 'morphological anomaly' + 'Isolated cloverleaf skull syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93550 Label: Basement membrane disease - 'Basement membrane disease' SubClassOf 'group of disorders' + 'Basement membrane disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291509 Label: sigma non-opioid intracellular receptor 1 - 'sigma non-opioid intracellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'sigma non-opioid intracellular receptor 1' SubClassOf 'gene' + 'sigma non-opioid intracellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sigma non-opioid intracellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'sigma non-opioid intracellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2340 Label: Keratosis follicularis spinulosa decalvans - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'part_of' some 'Secondary ectropion' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'disease' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'part_of' some 'Keratosis pilaris atrophicans' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Keratosis follicularis spinulosa decalvans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratosis pilaris atrophicans' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'disease' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_37202 Label: Interstitial cystitis - 'Interstitial cystitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Interstitial cystitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Interstitial cystitis' SubClassOf 'disease' - 'Interstitial cystitis' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Interstitial cystitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Interstitial cystitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Interstitial cystitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Interstitial cystitis' SubClassOf 'disease' + 'Interstitial cystitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_157823 Label: Kl�ver-Bucy syndrome - 'Kl�ver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Kl�ver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Kl�ver-Bucy syndrome' SubClassOf 'clinical syndrome' + 'Kl�ver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Kl�ver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Kl�ver-Bucy syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2348 Label: Familial partial lipodystrophy, Dunnigan type - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'disease' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2349 Label: Muscular pseudohypertrophy - hypothyroidism - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'disease' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_prevalence' some 'Unknown' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'disease' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_217407 Label: Hereditary hypotrichosis with recurrent skin vesicles - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'part_of' some 'Alopecia' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'disease' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'disease' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2346 Label: Angioosteohypertrophic syndrome - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'disease' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angioosteohypertrophic syndrome' SubClassOf 'disease' + 'Angioosteohypertrophic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' + 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2347 Label: Lethal Kniest-like dysplasia - 'Lethal Kniest-like dysplasia' SubClassOf 'malformation syndrome' - 'Lethal Kniest-like dysplasia' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lethal Kniest-like dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal Kniest-like dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' + 'Lethal Kniest-like dysplasia' SubClassOf 'malformation syndrome' + 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal Kniest-like dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_157820 Label: Cold-induced sweating syndrome - 'Cold-induced sweating syndrome' SubClassOf 'disease' - 'Cold-induced sweating syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cold-induced sweating syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cold-induced sweating syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cold-induced sweating syndrome' SubClassOf 'part_of' some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Cold-induced sweating syndrome' SubClassOf 'disease' + 'Cold-induced sweating syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Cold-induced sweating syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cold-induced sweating syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2345 Label: Isolated Klippel-Feil syndrome - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated Klippel-Feil syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated Klippel-Feil syndrome' SubClassOf 'disease' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Isolated Klippel-Feil syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Klippel-Feil syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated Klippel-Feil syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Isolated Klippel-Feil syndrome' SubClassOf 'disease' + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_90783 Label: 46,XY disorder of sex development due to testosterone synthesis defect - '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157808 Label: Congenital pseudoarthrosis of the limbs - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Dysostosis with limb anomaly as a major feature' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'morphological anomaly' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Dysostosis of genetic origin with limb anomaly as a major feature' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Non-syndromic limb malformation' + 'Congenital pseudoarthrosis of the limbs' SubClassOf 'morphological anomaly' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with limb anomaly as a major feature' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_90787 Label: 46,XY disorder of sex development due to testicular steroidogenesis defect - '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90786 Label: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect - '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363694 Label: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with pulmonary hypertension as a major feature' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_352670 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93557 Label: Light and heavy chain deposition disease - 'Light and heavy chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Light and heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Light and heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Light and heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' Class: http://www.orpha.net/ORDO/Orphanet_93558 Label: Light chain deposition disease - 'Light chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Light chain deposition disease' SubClassOf 'clinical subtype' + 'Light chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' + 'Light chain deposition disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_352675 Label: X-linked Charcot-Marie-Tooth disease type 6 - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_93554 Label: Type II mixed cryoglobulinemia - 'Type II mixed cryoglobulinemia' SubClassOf 'etiological subtype' - 'Type II mixed cryoglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Type II mixed cryoglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Type II mixed cryoglobulinemia' SubClassOf 'part_of' some 'Cryoglobulinemic vasculitis' + 'Type II mixed cryoglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Type II mixed cryoglobulinemia' SubClassOf 'etiological subtype' + 'Type II mixed cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_281864 Label: X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound - 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'gene' - 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'Major susceptibility factor in' some 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'Major susceptibility factor in' some 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' Class: http://www.orpha.net/ORDO/Orphanet_93555 Label: Mixed cryoglobulinemia type III - 'Mixed cryoglobulinemia type III' SubClassOf 'part_of' some 'Cryoglobulinemic vasculitis' - 'Mixed cryoglobulinemia type III' SubClassOf 'etiological subtype' - 'Mixed cryoglobulinemia type III' SubClassOf 'has_prevalence' some 'Unknown' - 'Mixed cryoglobulinemia type III' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mixed cryoglobulinemia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mixed cryoglobulinemia type III' SubClassOf 'etiological subtype' + 'Mixed cryoglobulinemia type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_93556 Label: Heavy chain deposition disease - 'Heavy chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' + 'Heavy chain deposition disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93561 Label: Familial renal amyloidosis due to lysozyme variant - 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to lysozyme variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_93560 Label: Familial renal amyloidosis due to Apolipoprotein AI variant - 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_2330 Label: Kasabach-Merritt syndrome - 'Kasabach-Merritt syndrome' SubClassOf 'part_of' some 'Vascular tumor' - 'Kasabach-Merritt syndrome' SubClassOf 'disease' - 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kasabach-Merritt syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kasabach-Merritt syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Kasabach-Merritt syndrome' SubClassOf 'disease' + 'Kasabach-Merritt syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kasabach-Merritt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kasabach-Merritt syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_178148 Label: Antenatal multiminicore disease with arthrogryposis multiplex congenita - 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'clinical subtype' + 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' + 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2331 Label: Kawasaki disease - 'Kawasaki disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Kawasaki disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Kawasaki disease' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' - 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kawasaki disease' SubClassOf 'part_of' some 'Non-familial rare disease with dilated cardiomyopathy' - 'Kawasaki disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Kawasaki disease' SubClassOf 'disease' + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial rare disease with dilated cardiomyopathy' + 'Kawasaki disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Kawasaki disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93562 Label: Familial renal amyloidosis due to fibrinogen A alpha-chain variant - 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' + 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2332 Label: KBG syndrome - 'KBG syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'KBG syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'KBG syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'KBG syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'KBG syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'KBG syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'KBG syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'KBG syndrome' SubClassOf 'malformation syndrome' - 'KBG syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'KBG syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'KBG syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KBG syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'KBG syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'KBG syndrome' SubClassOf 'malformation syndrome' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_268770 Label: Upper thoracic spina bifida cystica - 'Upper thoracic spina bifida cystica' SubClassOf 'clinical subtype' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Upper thoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Upper thoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Upper thoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_332077 Label: protein kinase C, delta - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive systemic lupus erythematosus' - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'protein kinase C, delta' SubClassOf 'gene' + 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive systemic lupus erythematosus' + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autoimmune lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217410 Label: Circumscribed lymphatic malformation - 'Circumscribed lymphatic malformation' SubClassOf 'clinical subtype' - 'Circumscribed lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Circumscribed lymphatic malformation' SubClassOf 'part_of' some 'Macrocystic lymphatic malformation' - 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Circumscribed lymphatic malformation' SubClassOf 'clinical subtype' + 'Circumscribed lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrocystic lymphatic malformation' + 'Circumscribed lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2337 Label: Non-epidermolytic palmoplantar keratoderma - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2338 Label: Isolated punctate palmoplantar keratoderma - 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Isolated punctate palmoplantar keratoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2339 Label: Keratosis follicularis - dwarfism - cerebral atrophy - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'malformation syndrome' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90791 Label: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2333 Label: Kenny-Caffey syndrome - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Kenny-Caffey syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Kenny-Caffey syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Kenny-Caffey syndrome' SubClassOf 'malformation syndrome' + 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kenny-Caffey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kenny-Caffey syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Kenny-Caffey syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90790 Label: Congenital lipoid adrenal hyperplasia due to STAR deficency - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'disease' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'disease' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_2334 Label: Autosomal dominant keratitis - 'Autosomal dominant keratitis' SubClassOf 'part_of' some 'Corneal dystrophy' - 'Autosomal dominant keratitis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant keratitis' SubClassOf 'disease' - 'Autosomal dominant keratitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant keratitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Corneal dystrophy' + 'Autosomal dominant keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant keratitis' SubClassOf 'disease' + 'Autosomal dominant keratitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_178145 Label: Moderate multiminicore disease with hand involvement - 'Moderate multiminicore disease with hand involvement' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Moderate multiminicore disease with hand involvement' SubClassOf 'clinical subtype' + 'Moderate multiminicore disease with hand involvement' SubClassOf 'clinical subtype' + 'Moderate multiminicore disease with hand involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_90796 Label: 46,XY disorder of sex development due to isolated 17,20 lyase deficiency - '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'disease' - '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to testicular steroidogenesis defect' + '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'disease' + '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_95618 Label: Pituitary hormone deficiency secondary to storage disease - 'Pituitary hormone deficiency secondary to storage disease' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency secondary to storage disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294023 Label: Neonatal inflammatory skin and bowel disease - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Neonatal inflammatory skin and bowel disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95619 Label: Iatrogenic or traumatic pituitary deficiency - 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'disease' - 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' + 'Iatrogenic or traumatic pituitary deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired pituitary hormone deficiency' + 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90797 Label: Partial androgen insensitivity syndrome - 'Partial androgen insensitivity syndrome' SubClassOf 'disease' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Partial androgen insensitivity syndrome' SubClassOf 'part_of' some 'Androgen insensitivity syndrome' + 'Partial androgen insensitivity syndrome' SubClassOf 'disease' + 'Partial androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Androgen insensitivity syndrome' + 'Partial androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Partial androgen insensitivity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2319 Label: Juberg-Hayward syndrome - 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Juberg-Hayward syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juberg-Hayward syndrome' SubClassOf 'malformation syndrome' + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juberg-Hayward syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juberg-Hayward syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90793 Label: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_294026 Label: 2q31.1 microduplication syndrome - '2q31.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '2q31.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '2q31.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q31.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 2' + '2q31.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 2' + '2q31.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '2q31.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '2q31.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q31.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_90794 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90795 Label: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_365642 Label: spinocerebellar ataxia 37 - 'spinocerebellar ataxia 37' SubClassOf 'gene' - 'spinocerebellar ataxia 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 37' + 'spinocerebellar ataxia 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spinocerebellar ataxia 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'spinocerebellar ataxia 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 37' Class: http://www.orpha.net/ORDO/Orphanet_352646 Label: protein-O-mannose kinase - 'protein-O-mannose kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'protein-O-mannose kinase' SubClassOf 'gene' + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95611 Label: Pituitary hormone defiency from vascular origin - 'Pituitary hormone defiency from vascular origin' SubClassOf 'group of disorders' + 'Pituitary hormone defiency from vascular origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95613 Label: Pituitary apoplexy - 'Pituitary apoplexy' SubClassOf 'disease' - 'Pituitary apoplexy' SubClassOf 'has_prevalence' some 'No data available' - 'Pituitary apoplexy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pituitary apoplexy' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' - 'Pituitary apoplexy' SubClassOf 'has_inheritance' some 'sporadic' + 'Pituitary apoplexy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pituitary apoplexy' SubClassOf 'disease' + 'Pituitary apoplexy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired pituitary hormone deficiency' + 'Pituitary apoplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_303176 Label: piezo-type mechanosensitive ion channel component 1 - 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydrated hereditary stomatocytosis' - 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'gene' + 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydrated hereditary stomatocytosis' + 'piezo-type mechanosensitive ion channel component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'piezo-type mechanosensitive ion channel component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_356106 Label: Rho GDP dissociation inhibitor (GDI) alpha - 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf 'gene' - 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352641 Label: Autosomal recessive cerebellar ataxia with late-onset spasticity - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_95617 Label: Pituitary hormone deficiency secondary to a granulomatous disease - 'Pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75567 Label: Primary progressive freezing gait - 'Primary progressive freezing gait' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary progressive freezing gait' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary progressive freezing gait' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Primary progressive freezing gait' SubClassOf 'disease' + 'Primary progressive freezing gait' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary progressive freezing gait' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary progressive freezing gait' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Primary progressive freezing gait' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75566 Label: Loeffler endocarditis - 'Loeffler endocarditis' SubClassOf 'disease' - 'Loeffler endocarditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Loeffler endocarditis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' + 'Loeffler endocarditis' SubClassOf 'disease' + 'Loeffler endocarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_332043 Label: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 - 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf 'gene' - 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75565 Label: Tropical endomyocardial fibrosis - 'Tropical endomyocardial fibrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tropical endomyocardial fibrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Tropical endomyocardial fibrosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Tropical endomyocardial fibrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tropical endomyocardial fibrosis' SubClassOf 'disease' + 'Tropical endomyocardial fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tropical endomyocardial fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tropical endomyocardial fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Tropical endomyocardial fibrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320391 Label: Autosomal recessive spastic paraplegia type 46 - 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 46' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_252050 Label: Primary melanoma of the central nervous system - 'Primary melanoma of the central nervous system' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Primary melanoma of the central nervous system' SubClassOf 'disease' + 'Primary melanoma of the central nervous system' SubClassOf 'disease' + 'Primary melanoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_75564 Label: Acquired idiopathic sideroblastic anemia - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'part_of' some 'Sideroblastic anemia' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'disease' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'disease' + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sideroblastic anemia' + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired idiopathic sideroblastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_225293 Label: WD repeat domain 72 - 'WD repeat domain 72' SubClassOf 'gene' - 'WD repeat domain 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'WD repeat domain 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'WD repeat domain 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_75563 Label: X-linked sideroblastic anemia - 'X-linked sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'X-linked sideroblastic anemia' SubClassOf 'part_of' some 'Disorder of porphyrin and haem metabolism' - 'X-linked sideroblastic anemia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked sideroblastic anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked sideroblastic anemia' SubClassOf 'disease' + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of porphyrin and haem metabolism' + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'X-linked sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked sideroblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320396 Label: Autosomal recessive spastic paraplegia type 45 - 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 45' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_352636 Label: Phalangeal microgeodic syndrome - 'Phalangeal microgeodic syndrome' SubClassOf 'disease' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Phalangeal microgeodic syndrome' SubClassOf 'part_of' some 'Primary osteolysis' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Phalangeal microgeodic syndrome' SubClassOf 'disease' + 'Phalangeal microgeodic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phalangeal microgeodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Phalangeal microgeodic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Phalangeal microgeodic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_252054 Label: Hemangioblastoma - 'Hemangioblastoma' SubClassOf 'disease' - 'Hemangioblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hemangioblastoma' SubClassOf 'part_of' some 'Rare nervous system tumor' + 'Hemangioblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hemangioblastoma' SubClassOf 'disease' + 'Hemangioblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_268762 Label: Cervical spina bifida cystica - 'Cervical spina bifida cystica' SubClassOf 'clinical subtype' - 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervical spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervical spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cervical spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervical spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_2324 Label: Kaler-Garrity-Stern syndrome - 'Kaler-Garrity-Stern syndrome' SubClassOf 'malformation syndrome' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'malformation syndrome' + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kaler-Garrity-Stern syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2325 Label: Epidermolysis bullosa simplex with anodontia/hypodontia - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'malformation syndrome' - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'part_of' some 'Epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'malformation syndrome' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_2322 Label: Kabuki syndrome - 'Kabuki syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Kabuki syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Congenital ectropion' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Kabuki syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kabuki syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Kabuki syndrome' SubClassOf 'malformation syndrome' + 'Kabuki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Kabuki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kabuki syndrome' SubClassOf 'malformation syndrome' + 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_268766 Label: Cervicothoracic spina bifida cystica - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervicothoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervicothoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervicothoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2323 Label: Sanjad-Sakati syndrome - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Sanjad-Sakati syndrome' SubClassOf 'malformation syndrome' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sanjad-Sakati syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sanjad-Sakati syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Sanjad-Sakati syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sanjad-Sakati syndrome' SubClassOf 'malformation syndrome' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_252057 Label: Tumor of cranial and spinal nerves - 'Tumor of cranial and spinal nerves' SubClassOf 'group of disorders' + 'Tumor of cranial and spinal nerves' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157801 Label: Mesoaxial synostotic syndactyly with phalangeal reduction - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'morphological anomaly' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'part_of' some 'Syndactyly' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'morphological anomaly' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2328 Label: Kapur-Toriello syndrome - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kapur-Toriello syndrome' SubClassOf 'malformation syndrome' - 'Kapur-Toriello syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kapur-Toriello syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kapur-Toriello syndrome' SubClassOf 'malformation syndrome' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kapur-Toriello syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2329 Label: Karsch-Neugebauer syndrome - 'Karsch-Neugebauer syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Karsch-Neugebauer syndrome' SubClassOf 'malformation syndrome' - 'Karsch-Neugebauer syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Karsch-Neugebauer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Karsch-Neugebauer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2326 Label: Kallmann syndrome - heart disease - 'Kallmann syndrome - heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kallmann syndrome - heart disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Kallmann syndrome - heart disease' SubClassOf 'malformation syndrome' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Kallmann syndrome - heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kallmann syndrome - heart disease' SubClassOf 'malformation syndrome' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2309 Label: Pachyonychia congenita - 'Pachyonychia congenita' SubClassOf 'disease' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Pachyonychia congenita' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pachyonychia congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pachyonychia congenita' SubClassOf 'has_prevalence' some 'Unknown' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Syndromic nail anomaly' + 'Pachyonychia congenita' SubClassOf 'disease' + 'Pachyonychia congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pachyonychia congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2308 Label: Jacobsen syndrome - 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jacobsen syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 11' - 'Jacobsen syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Jacobsen syndrome' SubClassOf 'malformation syndrome' - 'Jacobsen syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Jacobsen syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Jacobsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Jacobsen syndrome' SubClassOf 'malformation syndrome' + 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Jacobsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 11' + 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Jacobsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_294016 Label: Microcephaly-capillary malformation syndrome - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'malformation syndrome' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly-capillary malformation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352654 Label: Early-onset progressive neurodegeneration - blindness - ataxia - spasticity - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_352657 Label: Hereditary benign intraepithelial dyskeratosis - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'disease' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'disease' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_225288 Label: C-type lectin domain family 7, member A - 'C-type lectin domain family 7, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'C-type lectin domain family 7, member A' SubClassOf 'gene' + 'C-type lectin domain family 7, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'C-type lectin domain family 7, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'C-type lectin domain family 7, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.2-p12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225286 Label: caspase recruitment domain family, member 9 - 'caspase recruitment domain family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'caspase recruitment domain family, member 9' SubClassOf 'gene' - 'caspase recruitment domain family, member 9' SubClassOf 'Major susceptibility factor in' some 'Deep dermatophytosis' + 'caspase recruitment domain family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase recruitment domain family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'caspase recruitment domain family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'caspase recruitment domain family, member 9' SubClassOf 'Major susceptibility factor in' some 'Deep dermatophytosis' Class: http://www.orpha.net/ORDO/Orphanet_320380 Label: Autosomal recessive spastic paraplegia type 54 - 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 54' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_332055 Label: piezo-type mechanosensitive ion channel component 2 - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gordon syndrome' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marden-Walker syndrome' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'gene' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gordon syndrome' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marden-Walker syndrome' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' Class: http://www.orpha.net/ORDO/Orphanet_225280 Label: transient receptor potential cation channel, subfamily M, member 1 - 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'gene' - 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268752 Label: Thoracolumbosacral spina bifida cystica - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'clinical subtype' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'clinical subtype' + 'Thoracolumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_352649 Label: Brain dopamine-serotonin vesicular transport disease - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Disorder of neurotransmitter metabolism and transport' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neurotransmitter metabolism and transport' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320385 Label: Autosomal recessive spastic paraplegia type 49 - 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 49' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_178127 Label: fatty acid 2-hydroxylase - 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 35' - 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatty acid hydroxylase-associated neurodegeneration' - 'fatty acid 2-hydroxylase' SubClassOf 'gene' + 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 35' + 'fatty acid 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23"^^http://www.w3.org/2001/XMLSchema#string + 'fatty acid 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatty acid hydroxylase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_2310 Label: Absence deformity of leg - cataract - 'Absence deformity of leg - cataract' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Absence deformity of leg - cataract' SubClassOf 'malformation syndrome' - 'Absence deformity of leg - cataract' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Absence deformity of leg - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Absence deformity of leg - cataract' SubClassOf 'malformation syndrome' + 'Absence deformity of leg - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_178120 Label: adaptor-related protein complex 1, sigma 1 subunit - 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEDNIK syndrome' + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEDNIK syndrome' + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2311 Label: Autosomal recessive spondylocostal dysostosis - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Disorder of fucoglycosan synthesis' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fucoglycosan synthesis' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2312 Label: Transient familial neonatal hyperbilirubinemia - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'part_of' some 'Rare hepatic disease' - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'disease' - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'part_of' some 'Rare genetic hepatic disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_29207 Label: Reactive arthritis - 'Reactive arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Reactive arthritis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Reactive arthritis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Reactive arthritis' SubClassOf 'has_inheritance' some 'sporadic' - 'Reactive arthritis' SubClassOf 'disease' + 'Reactive arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Reactive arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Reactive arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Reactive arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Reactive arthritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2314 Label: Autosomal dominant hyper-IgE syndrome - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'disease' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'disease' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgE syndrome' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2315 Label: Johanson-Blizzard syndrome - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Johanson-Blizzard syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Johanson-Blizzard syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Johanson-Blizzard syndrome' SubClassOf 'malformation syndrome' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Johanson-Blizzard syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Johanson-Blizzard syndrome' SubClassOf 'malformation syndrome' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2316 Label: Neuroectodermal syndrome, Johnson type - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'malformation syndrome' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'malformation syndrome' + 'Neuroectodermal syndrome, Johnson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2318 Label: Joubert syndrome with oculorenal defect - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Joubert syndrome with oculorenal defect' SubClassOf 'disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' + 'Joubert syndrome with oculorenal defect' SubClassOf 'disease' + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_268758 Label: Lumbosacral spina bifida cystica - 'Lumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Lumbosacral spina bifida cystica' SubClassOf 'clinical subtype' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lumbosacral spina bifida cystica' SubClassOf 'clinical subtype' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_3439 Label: Von Voss-Cherstvoy syndrome - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'malformation syndrome' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'malformation syndrome' + 'Von Voss-Cherstvoy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141013 Label: First branchial cleft anomaly - 'First branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'First branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'First branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'First branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_2305 Label: Isotretinoin syndrome - 'Isotretinoin syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Isotretinoin syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Isotretinoin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isotretinoin syndrome' SubClassOf 'malformation syndrome' - 'Isotretinoin syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Isotretinoin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Isotretinoin syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268748 Label: Total spina bifida cystica - 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Total spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Total spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Total spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Total spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Total spina bifida cystica' SubClassOf 'clinical subtype' + 'Total spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Total spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total spina bifida cystica' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3437 Label: Vogt-Koyanagi-Harada disease - 'Vogt-Koyanagi-Harada disease' SubClassOf 'disease' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Panuveitis' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' + 'Vogt-Koyanagi-Harada disease' SubClassOf 'disease' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Panuveitis' + 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_2307 Label: IVIC syndrome - 'IVIC syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'IVIC syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'IVIC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'IVIC syndrome' SubClassOf 'malformation syndrome' - 'IVIC syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'IVIC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'IVIC syndrome' SubClassOf 'malformation syndrome' + 'IVIC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'IVIC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2306 Label: Isotretinoin-like syndrome - 'Isotretinoin-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isotretinoin-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Isotretinoin-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Isotretinoin-like syndrome' SubClassOf 'malformation syndrome' - 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Isotretinoin-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isotretinoin-like syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50920 Label: Multiple fibroadenoma of the breast - 'Multiple fibroadenoma of the breast' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple fibroadenoma of the breast' SubClassOf 'disease' - 'Multiple fibroadenoma of the breast' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiple fibroadenoma of the breast' SubClassOf 'part_of' some 'Rare benign breast tumor' + 'Multiple fibroadenoma of the breast' SubClassOf 'disease' + 'Multiple fibroadenoma of the breast' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple fibroadenoma of the breast' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Multiple fibroadenoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_2301 Label: Congenital short bowel syndrome - 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital short bowel syndrome' SubClassOf 'morphological anomaly' - 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital short bowel syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Congenital short bowel syndrome' SubClassOf 'part_of' some 'Primary short bowel syndrome' + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary short bowel syndrome' + 'Congenital short bowel syndrome' SubClassOf 'morphological anomaly' + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2300 Label: Multiple intestinal atresia - 'Multiple intestinal atresia' SubClassOf 'morphological anomaly' - 'Multiple intestinal atresia' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Multiple intestinal atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Multiple intestinal atresia' SubClassOf 'morphological anomaly' + 'Multiple intestinal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_268744 Label: Spina bifida cystica - 'Spina bifida cystica' SubClassOf 'group of disorders' - 'Spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Spina bifida cystica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida cystica' SubClassOf 'group of disorders' + 'Spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3433 Label: Microcephaly - brachydactyly - kyphoscoliosis - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'malformation syndrome' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'malformation syndrome' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3434 Label: MMEP syndrome - 'MMEP syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'MMEP syndrome' SubClassOf 'malformation syndrome' - 'MMEP syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'MMEP syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MMEP syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'MMEP syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf 'malformation syndrome' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_280325 Label: Distal monosomy 12p - 'Distal monosomy 12p' SubClassOf 'malformation syndrome' - 'Distal monosomy 12p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal monosomy 12p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 12' + 'Distal monosomy 12p' SubClassOf 'malformation syndrome' + 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal monosomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 12' + 'Distal monosomy 12p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2302 Label: Asbestos intoxication - 'Asbestos intoxication' SubClassOf 'part_of' some 'Pneumoconiosis' - 'Asbestos intoxication' SubClassOf 'disease' + 'Asbestos intoxication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pneumoconiosis' + 'Asbestos intoxication' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_252031 Label: Diffuse leptomeningeal melanocytosis - 'Diffuse leptomeningeal melanocytosis' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Diffuse leptomeningeal melanocytosis' SubClassOf 'disease' + 'Diffuse leptomeningeal melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' + 'Diffuse leptomeningeal melanocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268740 Label: Upper thoracic spina bifida aperta - 'Upper thoracic spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Upper thoracic spina bifida aperta' SubClassOf 'clinical subtype' - 'Upper thoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' + 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Upper thoracic spina bifida aperta' SubClassOf 'clinical subtype' + 'Upper thoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_206489 Label: Vaginal germ cell malignant tumor - 'Vaginal germ cell malignant tumor' SubClassOf 'disease' - 'Vaginal germ cell malignant tumor' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' + 'Vaginal germ cell malignant tumor' SubClassOf 'disease' + 'Vaginal germ cell malignant tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_265258 Label: RNA, U4atac small nuclear (U12-dependent splicing) - 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'gene' - 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism types I and III' + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism types I and III' + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_324611 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_160082 Label: complement component 4B (Chido blood group) - 'complement component 4B (Chido blood group)' SubClassOf 'gene' - 'complement component 4B (Chido blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 4B (Chido blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 4B (Chido blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 4B (Chido blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' Class: http://www.orpha.net/ORDO/Orphanet_206484 Label: Ovarian gonadoblastoma - 'Ovarian gonadoblastoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ovarian gonadoblastoma' SubClassOf 'disease' - 'Ovarian gonadoblastoma' SubClassOf 'part_of' some 'Malignant non-epithelial tumor of ovary' + 'Ovarian gonadoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant non-epithelial tumor of ovary' + 'Ovarian gonadoblastoma' SubClassOf 'disease' + 'Ovarian gonadoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_141007 Label: Orofaciodigital syndrome type 9 - 'Orofaciodigital syndrome type 9' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 9' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 9' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 9' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 9' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 9' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 9' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_220402 Label: Limited cutaneous systemic sclerosis - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Limited cutaneous systemic sclerosis' SubClassOf 'clinical subtype' - 'Limited cutaneous systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limited cutaneous systemic sclerosis' SubClassOf 'clinical subtype' + 'Limited cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_3426 Label: Double outlet right ventricle - 'Double outlet right ventricle' SubClassOf 'part_of' some 'Vascular malposition' - 'Double outlet right ventricle' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Double outlet right ventricle' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double outlet right ventricle' SubClassOf 'morphological anomaly' + 'Double outlet right ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular malposition' + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Double outlet right ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double outlet right ventricle' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141022 Label: Second branchial cleft anomaly - 'Second branchial cleft anomaly' SubClassOf 'morphological anomaly' - 'Second branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Second branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Second branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_3427 Label: Double outlet left ventricle - 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double outlet left ventricle' SubClassOf 'morphological anomaly' - 'Double outlet left ventricle' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Double outlet left ventricle' SubClassOf 'part_of' some 'Vascular malposition' - 'Double outlet left ventricle' SubClassOf 'has_inheritance' some 'sporadic' + 'Double outlet left ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Double outlet left ventricle' SubClassOf 'morphological anomaly' + 'Double outlet left ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Double outlet left ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular malposition' + 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double outlet left ventricle' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3429 Label: Verloove Vanhorick-Brubakk syndrome - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'malformation syndrome' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'malformation syndrome' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3424 Label: Velo-facial-skeletal syndrome - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Velo-facial-skeletal syndrome' SubClassOf 'malformation syndrome' - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Velo-facial-skeletal syndrome' SubClassOf 'malformation syndrome' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280333 Label: Autosomal recessive limb-girdle muscular dystrophy type 2P - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Primary qualitative or quantitative defects of alpha-dystroglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary qualitative or quantitative defects of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_252046 Label: Meningeal melanocytoma - 'Meningeal melanocytoma' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Meningeal melanocytoma' SubClassOf 'disease' + 'Meningeal melanocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' + 'Meningeal melanocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_50918 Label: Kikuchi-Fujimoto disease - 'Kikuchi-Fujimoto disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Kikuchi-Fujimoto disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Kikuchi-Fujimoto disease' SubClassOf 'part_of' some 'Rare systemic disease' - 'Kikuchi-Fujimoto disease' SubClassOf 'disease' + 'Kikuchi-Fujimoto disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kikuchi-Fujimoto disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Kikuchi-Fujimoto disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3421 Label: Cerebroretinal vasculopathy - 'Cerebroretinal vasculopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebroretinal vasculopathy' SubClassOf 'disease' - 'Cerebroretinal vasculopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebroretinal vasculopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cerebroretinal vasculopathy' SubClassOf 'part_of' some 'Retinal vasculopathy and cerebral leukodystrophy' + 'Cerebroretinal vasculopathy' SubClassOf 'disease' + 'Cerebroretinal vasculopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebroretinal vasculopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebroretinal vasculopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal vasculopathy and cerebral leukodystrophy' + 'Cerebroretinal vasculopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_173526 Label: RAN binding protein 2 - 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Familial acute necrotizing encephalopathy' - 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' - 'RAN binding protein 2' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'RAN binding protein 2' SubClassOf 'gene' + 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Familial acute necrotizing encephalopathy' + 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' + 'RAN binding protein 2' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'RAN binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAN binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_173523 Label: adenylate kinase 2 - 'adenylate kinase 2' SubClassOf 'gene' - 'adenylate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reticular dysgenesis' + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Reticular dysgenesis' + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_173530 Label: discoidin domain receptor tyrosine kinase 2 - 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' - 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'gene' + 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' + 'discoidin domain receptor tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'discoidin domain receptor tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q12-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324601 Label: X-linked cleft palate and ankyloglossia - 'X-linked cleft palate and ankyloglossia' SubClassOf 'malformation syndrome' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'malformation syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked cleft palate and ankyloglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_304694 Label: caspase recruitment domain family, member 14 - 'caspase recruitment domain family, member 14' SubClassOf 'gene' - 'caspase recruitment domain family, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pityriasis rubra pilaris' + 'caspase recruitment domain family, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase recruitment domain family, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'caspase recruitment domain family, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pityriasis rubra pilaris' Class: http://www.orpha.net/ORDO/Orphanet_206473 Label: Borderline epithelial tumor of ovary - 'Borderline epithelial tumor of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Borderline epithelial tumor of ovary' SubClassOf 'disease' + 'Borderline epithelial tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' + 'Borderline epithelial tumor of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324604 Label: Classic multiminicore myopathy - 'Classic multiminicore myopathy' SubClassOf 'clinical subtype' - 'Classic multiminicore myopathy' SubClassOf 'part_of' some 'Multiminicore myopathy' + 'Classic multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' + 'Classic multiminicore myopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_160093 Label: complement component 5 - 'complement component 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 5' SubClassOf 'gene' + 'complement component 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_206470 Label: Serous or mucinous cystadenoma of childhood - 'Serous or mucinous cystadenoma of childhood' SubClassOf 'disease' - 'Serous or mucinous cystadenoma of childhood' SubClassOf 'part_of' some 'Rare benign ovarian tumor' + 'Serous or mucinous cystadenoma of childhood' SubClassOf 'disease' + 'Serous or mucinous cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_3411 Label: Double uterus - hemivagina - renal agenesis - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'malformation syndrome' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'malformation syndrome' + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Double uterus - hemivagina - renal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_280302 Label: Autoimmune pancreatitis type 1 - 'Autoimmune pancreatitis type 1' SubClassOf 'clinical subtype' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoimmune pancreatitis type 1' SubClassOf 'part_of' some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoimmune pancreatitis type 1' SubClassOf 'clinical subtype' + 'Autoimmune pancreatitis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autoimmune pancreatitis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_141037 Label: Fourth branchial cleft anomaly - 'Fourth branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Fourth branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Fourth branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Fourth branchial cleft anomaly' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3412 Label: VACTERL with hydrocephalus - 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'VACTERL with hydrocephalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some 'x linked recessive' - 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'VACTERL with hydrocephalus' SubClassOf 'malformation syndrome' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'VACTERL with hydrocephalus' SubClassOf 'malformation syndrome' + 'VACTERL with hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295107 Label: Apodia, bilateral - 'Apodia, bilateral' SubClassOf 'clinical subtype' - 'Apodia, bilateral' SubClassOf 'part_of' some 'Apodia' + 'Apodia, bilateral' SubClassOf 'clinical subtype' + 'Apodia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_3417 Label: Van den Bosch syndrome - 'Van den Bosch syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Van den Bosch syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Van den Bosch syndrome' SubClassOf 'malformation syndrome' - 'Van den Bosch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Van den Bosch syndrome' SubClassOf 'malformation syndrome' + 'Van den Bosch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic acrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_252018 Label: Teratoma of the central nervous system - 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' - 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Teratoma' - 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' + 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' Class: http://www.orpha.net/ORDO/Orphanet_252015 Label: Choriocarcinoma of the central nervous system - 'Choriocarcinoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Choriocarcinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Choriocarcinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Choriocarcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_3416 Label: Hyperostosis corticalis generalisata - 'Hyperostosis corticalis generalisata' SubClassOf 'malformation syndrome' - 'Hyperostosis corticalis generalisata' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperostosis corticalis generalisata' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Hyperostosis corticalis generalisata' SubClassOf 'malformation syndrome' + 'Hyperostosis corticalis generalisata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperostosis corticalis generalisata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_141030 Label: Third branchial cleft anomaly - 'Third branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Third branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Third branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Third branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_399813 Label: Male infertility due to sperm motility disorder - 'Male infertility due to sperm motility disorder' SubClassOf 'group of disorders' + 'Male infertility due to sperm motility disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1198 Label: Colonic atresia - 'Colonic atresia' SubClassOf 'morphological anomaly' - 'Colonic atresia' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' + 'Colonic atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' + 'Colonic atresia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_173515 Label: APC membrane recruitment protein 1 - 'APC membrane recruitment protein 1' SubClassOf 'gene' - 'APC membrane recruitment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopathia striata - cranial sclerosis' + 'APC membrane recruitment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.1"^^http://www.w3.org/2001/XMLSchema#string + 'APC membrane recruitment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopathia striata - cranial sclerosis' + 'APC membrane recruitment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180079 Label: Pseudounicornuate uterus - 'Pseudounicornuate uterus' SubClassOf 'morphological anomaly' - 'Pseudounicornuate uterus' SubClassOf 'part_of' some 'Unilateral aplasia of the M�llerian ducts' + 'Pseudounicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral aplasia of the M�llerian ducts' + 'Pseudounicornuate uterus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_233060 Label: vimentin - 'vimentin' SubClassOf 'gene' - 'vimentin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'vimentin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'vimentin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vimentin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_1199 Label: Esophageal atresia - 'Esophageal atresia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Esophageal atresia' SubClassOf 'has_inheritance' some 'sporadic' - 'Esophageal atresia' SubClassOf 'morphological anomaly' - 'Esophageal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Esophageal atresia' SubClassOf 'part_of' some 'Non-syndromic esophageal malformation' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'morphological anomaly' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic esophageal malformation' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "34.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1192 Label: Atherosclerosis - deafness - diabetes - epilepsy - nephropathy - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'malformation syndrome' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'malformation syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1193 Label: Atkin-Flaitz syndrome - 'Atkin-Flaitz syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Atkin-Flaitz syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Atkin-Flaitz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atkin-Flaitz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atkin-Flaitz syndrome' SubClassOf 'malformation syndrome' - 'Atkin-Flaitz syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atkin-Flaitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atkin-Flaitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atkin-Flaitz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Atkin-Flaitz syndrome' SubClassOf 'malformation syndrome' + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1194 Label: Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1195 Label: Congenital atransferrinemia - 'Congenital atransferrinemia' SubClassOf 'disease' - 'Congenital atransferrinemia' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'Congenital atransferrinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital atransferrinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital atransferrinemia' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' + 'Congenital atransferrinemia' SubClassOf 'disease' + 'Congenital atransferrinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Congenital atransferrinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_399808 Label: Male infertility with teratozoospermia due to single gene mutation - 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'disease' - 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'disease' + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with spermatogenesis disorder due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_233066 Label: microseminoprotein, beta- - 'microseminoprotein, beta-' SubClassOf 'gene' - 'microseminoprotein, beta-' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'microseminoprotein, beta-' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'microseminoprotein, beta-' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'microseminoprotein, beta-' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1190 Label: Atelosteogenesis type I - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type I' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Filamin-related bone disorder' - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some 'sporadic' + 'Atelosteogenesis type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type I' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_399805 Label: Male infertility with azoospermia or oligozoospermia due to single gene mutation - 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' - 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'disease' + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with spermatogenesis disorder due to single gene mutation' + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233062 Label: agrin - 'agrin' SubClassOf 'gene' - 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180086 Label: Didelphys uterus - 'Didelphys uterus' SubClassOf 'morphological anomaly' - 'Didelphys uterus' SubClassOf 'part_of' some 'Bicornuate uterus' + 'Didelphys uterus' SubClassOf 'morphological anomaly' + 'Didelphys uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bicornuate uterus' Class: http://www.orpha.net/ORDO/Orphanet_295112 Label: Congenital absence/hypoplasia of thumb, bilateral - 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb' + 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_3409 Label: Urban-Rogers-Meyer syndrome - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'malformation syndrome' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Urban-Rogers-Meyer syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295110 Label: Congenital absence/hypoplasia of thumb, unilateral - 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb' - 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of thumb' + 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3408 Label: Upington disease - 'Upington disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Upington disease' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Upington disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Upington disease' SubClassOf 'malformation syndrome' - 'Upington disease' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Upington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Upington disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Upington disease' SubClassOf 'malformation syndrome' + 'Upington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_295116 Label: Adactyly of foot, unilateral - 'Adactyly of foot, unilateral' SubClassOf 'clinical subtype' - 'Adactyly of foot, unilateral' SubClassOf 'part_of' some 'Acheiropodia' + 'Adactyly of foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiropodia' + 'Adactyly of foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295114 Label: Congenital absence/hypoplasia of fingers excluding thumb, bilateral - 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of fingers excluding thumb' + 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of fingers excluding thumb' Class: http://www.orpha.net/ORDO/Orphanet_3400 Label: Aorto-ventricular tunnel - 'Aorto-ventricular tunnel' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aorto-ventricular tunnel' SubClassOf 'part_of' some 'Ascending aorta anomaly' - 'Aorto-ventricular tunnel' SubClassOf 'morphological anomaly' - 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aorto-ventricular tunnel' SubClassOf 'has_inheritance' some 'sporadic' + 'Aorto-ventricular tunnel' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aorto-ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' + 'Aorto-ventricular tunnel' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aorto-ventricular tunnel' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3402 Label: Transient tyrosinemia of the newborn - 'Transient tyrosinemia of the newborn' SubClassOf 'disease' - 'Transient tyrosinemia of the newborn' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' + 'Transient tyrosinemia of the newborn' SubClassOf 'disease' + 'Transient tyrosinemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3403 Label: Uhl anomaly - 'Uhl anomaly' SubClassOf 'morphological anomaly' - 'Uhl anomaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Uhl anomaly' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' - 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Uhl anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Uhl anomaly' SubClassOf 'morphological anomaly' + 'Uhl anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Uhl anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Uhl anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified cardiomyopathy' + 'Uhl anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_173509 Label: solute carrier family 6 (neutral amino acid transporter), member 18 - 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'gene' - 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' Class: http://www.orpha.net/ORDO/Orphanet_252025 Label: Tumor of the meninges - 'Tumor of the meninges' SubClassOf 'group of disorders' + 'Tumor of the meninges' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3404 Label: Ulbright-Hodes syndrome - 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ulbright-Hodes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ulbright-Hodes syndrome' SubClassOf 'malformation syndrome' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ulbright-Hodes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulbright-Hodes syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Ulbright-Hodes syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulbright-Hodes syndrome' SubClassOf 'malformation syndrome' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3405 Label: Umbilical cord ulceration - intestinal atresia - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'malformation syndrome' + 'Umbilical cord ulceration - intestinal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Umbilical cord ulceration - intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3406 Label: Ulerythema ophryogenesis - 'Ulerythema ophryogenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ulerythema ophryogenesis' SubClassOf 'part_of' some 'Keratosis pilaris atrophicans' - 'Ulerythema ophryogenesis' SubClassOf 'disease' - 'Ulerythema ophryogenesis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some 'sporadic' + 'Ulerythema ophryogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratosis pilaris atrophicans' + 'Ulerythema ophryogenesis' SubClassOf 'disease' + 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ulerythema ophryogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_280315 Label: Autoimmune pancreatitis type 2 - 'Autoimmune pancreatitis type 2' SubClassOf 'clinical subtype' - 'Autoimmune pancreatitis type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune pancreatitis type 2' SubClassOf 'part_of' some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 2' SubClassOf 'clinical subtype' + 'Autoimmune pancreatitis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_141046 Label: Cervical dermoid cyst - 'Cervical dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Cervical dermoid cyst' SubClassOf 'morphological anomaly' + 'Cervical dermoid cyst' SubClassOf 'morphological anomaly' + 'Cervical dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_252028 Label: Primary melanocytic tumor of the central nervous system - 'Primary melanocytic tumor of the central nervous system' SubClassOf 'group of disorders' + 'Primary melanocytic tumor of the central nervous system' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220407 Label: Limited systemic sclerosis - 'Limited systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Limited systemic sclerosis' SubClassOf 'clinical subtype' - 'Limited systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' - 'Limited systemic sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Limited systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Limited systemic sclerosis' SubClassOf 'clinical subtype' + 'Limited systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limited systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Limited systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_399824 Label: Rare disorder with obstructive azoospermia - 'Rare disorder with obstructive azoospermia' SubClassOf 'group of disorders' + 'Rare disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1187 Label: Lethal ataxia with deafness and optic atrophy - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'Disorder of purine metabolism' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1188 Label: Ataxia-deafness-intellectual disability syndrome - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1185 Label: Spinocerebellar ataxia - dysmorphism - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'disease' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'disease' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1186 Label: Infantile onset spinocerebellar ataxia - 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' + 'Infantile onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Infantile onset spinocerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1183 Label: Opsoclonus-myoclonus syndrome - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Rare disease with myoclonus as a major feature' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Brain inflammatory disease' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with myoclonus as a major feature' + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.018"^^http://www.w3.org/2001/XMLSchema#string) + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic neurologic syndrome' + 'Opsoclonus-myoclonus syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1182 Label: Spastic ataxia with congenital miosis - 'Spastic ataxia with congenital miosis' SubClassOf 'disease' - 'Spastic ataxia with congenital miosis' SubClassOf 'part_of' some 'Autosomal dominant spastic ataxia' + 'Spastic ataxia with congenital miosis' SubClassOf 'disease' + 'Spastic ataxia with congenital miosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_173505 Label: solute carrier family 6 (proline IMINO transporter), member 20 - 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'gene' - 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.6"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_252021 Label: Mixed germ cell tumor of the central nervous system - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'clinical subtype' - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'part_of' some 'Mixed germ cell tumor' + 'Mixed germ cell tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed germ cell tumor' + 'Mixed germ cell tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Mixed germ cell tumor of the central nervous system' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1180 Label: Ataxia - hypogonadism - choroidal dystrophy - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'disease' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'disease' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_304678 Label: solute carrier family 52 (riboflavin transporter), member 2 - 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'gene' - 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_295101 Label: Acheiria, unilateral - 'Acheiria, unilateral' SubClassOf 'clinical subtype' - 'Acheiria, unilateral' SubClassOf 'part_of' some 'Acheiria' + 'Acheiria, unilateral' SubClassOf 'clinical subtype' + 'Acheiria, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_295103 Label: Acheiria, bilateral - 'Acheiria, bilateral' SubClassOf 'clinical subtype' - 'Acheiria, bilateral' SubClassOf 'part_of' some 'Acheiria' + 'Acheiria, bilateral' SubClassOf 'clinical subtype' + 'Acheiria, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_295105 Label: Apodia, unilateral - 'Apodia, unilateral' SubClassOf 'part_of' some 'Apodia' - 'Apodia, unilateral' SubClassOf 'clinical subtype' + 'Apodia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Apodia' + 'Apodia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3474 Label: CHIME syndrome - 'CHIME syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CHIME syndrome' SubClassOf 'malformation syndrome' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'CHIME syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CHIME syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'CHIME syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'CHIME syndrome' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' - 'CHIME syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' + 'CHIME syndrome' SubClassOf 'malformation syndrome' + 'CHIME syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'CHIME syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'CHIME syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3473 Label: Zimmermann-Laband syndrome - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Zimmermann-Laband syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Zimmermann-Laband syndrome' SubClassOf 'malformation syndrome' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zimmermann-Laband syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3472 Label: Yunis-Varon syndrome - 'Yunis-Varon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Yunis-Varon syndrome' SubClassOf 'malformation syndrome' - 'Yunis-Varon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Yunis-Varon syndrome' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Yunis-Varon syndrome' SubClassOf 'malformation syndrome' + 'Yunis-Varon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Yunis-Varon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3471 Label: Young syndrome - 'Young syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Young syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Young syndrome' SubClassOf 'disease' - 'Young syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Young syndrome' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Young syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Young syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Young syndrome' SubClassOf 'part_of' some 'Rare genetic disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Young syndrome' SubClassOf 'disease' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_141051 Label: Facial dermoid cyst - 'Facial dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Facial dermoid cyst' SubClassOf 'morphological anomaly' + 'Facial dermoid cyst' SubClassOf 'morphological anomaly' + 'Facial dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_123003 Label: lamin B receptor - 'lamin B receptor' SubClassOf 'Major susceptibility factor in' some 'Reynolds syndrome' - 'lamin B receptor' SubClassOf 'gene' - 'lamin B receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greenberg dysplasia' + 'lamin B receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin B receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B receptor' SubClassOf 'Major susceptibility factor in' some 'Reynolds syndrome' + 'lamin B receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greenberg dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_123006 Label: lecithin-cholesterol acyltransferase - 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fish-eye disease' - 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial LCAT deficiency' - 'lecithin-cholesterol acyltransferase' SubClassOf 'gene' + 'lecithin-cholesterol acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lecithin-cholesterol acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fish-eye disease' + 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial LCAT deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123008 Label: lactase - 'lactase' SubClassOf 'gene' - 'lactase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactase deficiency' + 'lactase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string + 'lactase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lactase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_295128 Label: Brachydactyly of fingers, unilateral - 'Brachydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Brachydactyly of fingers' - 'Brachydactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_295138 Label: Symbrachydactyly of hand and foot, bilateral - 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'part_of' some 'Symbrachydactyly of hands and feet' - 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'clinical subtype' + 'Symbrachydactyly of hand and foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220443 Label: Bleeding diathesis due to thromboxane synthesis deficiency - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'disease' + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'disease' + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_356164 Label: solute carrier family 18 (vesicular monoamine transporter), member 2 - 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain dopamine-serotonin vesicular transport disease' - 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf 'gene' + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brain dopamine-serotonin vesicular transport disease' + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_304648 Label: phosphatidylinositol glycan anchor biosynthesis, class O - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'gene' - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295136 Label: Symbrachydactyly of hand and foot, unilateral - 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'clinical subtype' - 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'part_of' some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220448 Label: Macrothrombocytopenia with mitral valve insufficiency - 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'disease' + 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295134 Label: Brachydactyly of toes, bilateral - 'Brachydactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Brachydactyly of toes, bilateral' SubClassOf 'part_of' some 'Brachydactyly of toes' + 'Brachydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_356169 Label: guanine nucleotide binding protein (G protein), beta polypeptide 4 - 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' - 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295132 Label: Brachydactyly of toes, unilateral - 'Brachydactyly of toes, unilateral' SubClassOf 'part_of' some 'Brachydactyly of toes' - 'Brachydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of toes' + 'Brachydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295130 Label: Brachydactyly of fingers, bilateral - 'Brachydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Brachydactyly of fingers' - 'Brachydactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of fingers' + 'Brachydactyly of fingers, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_180065 Label: Non-syndromic uterovaginal malformation - 'Non-syndromic uterovaginal malformation' SubClassOf 'group of disorders' + 'Non-syndromic uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180062 Label: Uterovaginal malformation - 'Uterovaginal malformation' SubClassOf 'group of disorders' + 'Uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3463 Label: Wolfram syndrome - 'Wolfram syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Wolfram syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' - 'Wolfram syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wolfram syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Wolfram syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Wolfram syndrome' SubClassOf 'disease' + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 1' + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Wolfram syndrome' SubClassOf 'disease' + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_3465 Label: Worster-Drought syndrome - 'Worster-Drought syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Worster-Drought syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Worster-Drought syndrome' SubClassOf 'malformation syndrome' - 'Worster-Drought syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Worster-Drought syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Worster-Drought syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Worster-Drought syndrome' SubClassOf 'malformation syndrome' + 'Worster-Drought syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3464 Label: Woodhouse-Sakati syndrome - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Woodhouse-Sakati syndrome' SubClassOf 'disease' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf 'disease' + 'Woodhouse-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Woodhouse-Sakati syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_141061 Label: Commissural lip fistula - 'Commissural lip fistula' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Commissural lip fistula' SubClassOf 'morphological anomaly' + 'Commissural lip fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Commissural lip fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180068 Label: Partial bilateral aplasia of the M�llerian ducts - 'Partial bilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' + 'Partial bilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3460 Label: Torg-Winchester syndrome - 'Torg-Winchester syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Torg-Winchester syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Torg-Winchester syndrome' SubClassOf 'part_of' some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' - 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' - 'Torg-Winchester syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Torg-Winchester syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Torg-Winchester syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Torg-Winchester syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Torg-Winchester syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_141064 Label: Lower lip fistula - 'Lower lip fistula' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Lower lip fistula' SubClassOf 'morphological anomaly' + 'Lower lip fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Lower lip fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_160048 Label: aurora kinase C - 'aurora kinase C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' - 'aurora kinase C' SubClassOf 'gene' + 'aurora kinase C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aurora kinase C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.43"^^http://www.w3.org/2001/XMLSchema#string + 'aurora kinase C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' Class: http://www.orpha.net/ORDO/Orphanet_141067 Label: Cervicofacial fibrochondroma - 'Cervicofacial fibrochondroma' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Cervicofacial fibrochondroma' SubClassOf 'morphological anomaly' + 'Cervicofacial fibrochondroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Cervicofacial fibrochondroma' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_252006 Label: Yolk sac tumor of the central nervous system - 'Yolk sac tumor of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Yolk sac tumor of the central nervous system' SubClassOf 'clinical subtype' - 'Yolk sac tumor of the central nervous system' SubClassOf 'part_of' some 'Yolk sac tumor' + 'Yolk sac tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Yolk sac tumor of the central nervous system' SubClassOf 'clinical subtype' + 'Yolk sac tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Yolk sac tumor' Class: http://www.orpha.net/ORDO/Orphanet_356172 Label: pyruvate dehydrogenase kinase, isozyme 3 - 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 6' - 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf 'gene' + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.12"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'X-linked Charcot-Marie-Tooth disease type 6' Class: http://www.orpha.net/ORDO/Orphanet_3467 Label: Hereditary xanthinuria - 'Hereditary xanthinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary xanthinuria' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Hereditary xanthinuria' SubClassOf 'disease' - 'Hereditary xanthinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary xanthinuria' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Hereditary xanthinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hereditary xanthinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary xanthinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary xanthinuria' SubClassOf 'disease' + 'Hereditary xanthinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_295118 Label: Adactyly of foot, bilateral - 'Adactyly of foot, bilateral' SubClassOf 'clinical subtype' - 'Adactyly of foot, bilateral' SubClassOf 'part_of' some 'Acheiropodia' + 'Adactyly of foot, bilateral' SubClassOf 'clinical subtype' + 'Adactyly of foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiropodia' Class: http://www.orpha.net/ORDO/Orphanet_3466 Label: WT limb-blood syndrome - 'WT limb-blood syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'WT limb-blood syndrome' SubClassOf 'disease' - 'WT limb-blood syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'WT limb-blood syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'WT limb-blood syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'WT limb-blood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'WT limb-blood syndrome' SubClassOf 'disease' + 'WT limb-blood syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'WT limb-blood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'WT limb-blood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3469 Label: XK aprosencephaly - 'XK aprosencephaly' SubClassOf 'malformation syndrome' - 'XK aprosencephaly' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'XK aprosencephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'XK aprosencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'XK aprosencephaly' SubClassOf 'malformation syndrome' + 'XK aprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'XK aprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'XK aprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295124 Label: Split foot, unilateral - 'Split foot, unilateral' SubClassOf 'part_of' some 'Split foot' - 'Split foot, unilateral' SubClassOf 'clinical subtype' + 'Split foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split foot' + 'Split foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_356176 Label: laminin, beta 1 - 'laminin, beta 1' SubClassOf 'gene' - 'laminin, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cobblestone lissencephaly without muscular or ocular involvement' + 'laminin, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cobblestone lissencephaly without muscular or ocular involvement' + 'laminin, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295126 Label: Split foot, bilateral - 'Split foot, bilateral' SubClassOf 'part_of' some 'Split foot' - 'Split foot, bilateral' SubClassOf 'clinical subtype' + 'Split foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split foot' + 'Split foot, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label: apolipoprotein C-III - 'apolipoprotein C-III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' - 'apolipoprotein C-III' SubClassOf 'gene' + 'apolipoprotein C-III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' + 'apolipoprotein C-III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein C-III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295120 Label: Split hand, unilateral - 'Split hand, unilateral' SubClassOf 'clinical subtype' - 'Split hand, unilateral' SubClassOf 'part_of' some 'Split hand' + 'Split hand, unilateral' SubClassOf 'clinical subtype' + 'Split hand, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand' Class: http://www.orpha.net/ORDO/Orphanet_160055 Label: beaded filament structural protein 1, filensin - 'beaded filament structural protein 1, filensin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive childhood-onset cortical cataract' - 'beaded filament structural protein 1, filensin' SubClassOf 'gene' + 'beaded filament structural protein 1, filensin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive childhood-onset cortical cataract' + 'beaded filament structural protein 1, filensin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'beaded filament structural protein 1, filensin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295122 Label: Split hand, bilateral - 'Split hand, bilateral' SubClassOf 'part_of' some 'Split hand' - 'Split hand, bilateral' SubClassOf 'clinical subtype' + 'Split hand, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand' + 'Split hand, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220436 Label: Quebec platelet disorder - 'Quebec platelet disorder' SubClassOf 'disease' - 'Quebec platelet disorder' SubClassOf 'part_of' some 'Alpha granule disease' + 'Quebec platelet disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Quebec platelet disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha granule disease' + 'Quebec platelet disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Quebec platelet disorder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180071 Label: Unilateral aplasia of the M�llerian ducts - 'Unilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' + 'Unilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180074 Label: True unicornuate uterus - 'True unicornuate uterus' SubClassOf 'morphological anomaly' - 'True unicornuate uterus' SubClassOf 'part_of' some 'Unilateral aplasia of the M�llerian ducts' + 'True unicornuate uterus' SubClassOf 'morphological anomaly' + 'True unicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral aplasia of the M�llerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_3450 Label: Weissenbacher- Zweymuller syndrome - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'malformation syndrome' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weissenbacher- Zweymuller syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141074 Label: External auditory canal aplasia/hypoplasia - 'External auditory canal aplasia/hypoplasia' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly' - 'External auditory canal aplasia/hypoplasia' SubClassOf 'morphological anomaly' + 'External auditory canal aplasia/hypoplasia' SubClassOf 'morphological anomaly' + 'External auditory canal aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123021 Label: low density lipoprotein receptor - 'low density lipoprotein receptor' SubClassOf 'gene' - 'low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_173556 Label: component of oligomeric golgi complex 1 - 'component of oligomeric golgi complex 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG1-CDG' - 'component of oligomeric golgi complex 1' SubClassOf 'gene' + 'component of oligomeric golgi complex 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG1-CDG' + 'component of oligomeric golgi complex 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123023 Label: low density lipoprotein receptor adaptor protein 1 - 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' - 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'gene' + 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'low density lipoprotein receptor adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36-p35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3454 Label: Intellectual disability-developmental delay-contractures syndrome - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_267232 Label: mitochondrial ribosomal protein S16 - 'mitochondrial ribosomal protein S16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 2' - 'mitochondrial ribosomal protein S16' SubClassOf 'gene' + 'mitochondrial ribosomal protein S16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 2' + 'mitochondrial ribosomal protein S16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein S16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3453 Label: Autoimmune polyendocrinopathy type 1 - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'disease' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic hypoparathyroidism' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Rare hypoparathyroidism' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Acquired premature ovarian failure' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired premature ovarian failure' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_141071 Label: Digestive duplication cyst of the tongue - 'Digestive duplication cyst of the tongue' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Digestive duplication cyst of the tongue' SubClassOf 'morphological anomaly' + 'Digestive duplication cyst of the tongue' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Digestive duplication cyst of the tongue' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3452 Label: Whipple disease - 'Whipple disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Whipple disease' SubClassOf 'part_of' some 'Rare intestinal disease' - 'Whipple disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Whipple disease' SubClassOf 'part_of' some 'Rare disease with myoclonus as a major feature' - 'Whipple disease' SubClassOf 'disease' - 'Whipple disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Whipple disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Whipple disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Whipple disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Whipple disease' SubClassOf 'disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with myoclonus as a major feature' + 'Whipple disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) Class: http://www.orpha.net/ORDO/Orphanet_3451 Label: West syndrome - 'West syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'West syndrome' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'West syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'West syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'West syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'West syndrome' SubClassOf 'clinical syndrome' - 'West syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'West syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'West syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'West syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.25"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'clinical syndrome' + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_356180 Label: cathepsin F - 'cathepsin F' SubClassOf 'gene' - 'cathepsin F' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN13 disease' + 'cathepsin F' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin F' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin F' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN13 disease' Class: http://www.orpha.net/ORDO/Orphanet_267235 Label: Tu translation elongation factor, mitochondrial - 'Tu translation elongation factor, mitochondrial' SubClassOf 'gene' - 'Tu translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 4' + 'Tu translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Tu translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 4' + 'Tu translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3456 Label: Wildervanck syndrome - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Wildervanck syndrome' SubClassOf 'malformation syndrome' - 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wildervanck syndrome' SubClassOf 'malformation syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3455 Label: Wiedemann-Rautenstrauch syndrome - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Secondary ectropion' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'malformation syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'malformation syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3459 Label: Wilson-Turner syndrome - 'Wilson-Turner syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Wilson-Turner syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Wilson-Turner syndrome' SubClassOf 'malformation syndrome' - 'Wilson-Turner syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Wilson-Turner syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Wilson-Turner syndrome' SubClassOf 'malformation syndrome' + 'Wilson-Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wilson-Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_141077 Label: Epignathus - 'Epignathus' SubClassOf 'part_of' some 'Teratoma' - 'Epignathus' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Epignathus' SubClassOf 'clinical subtype' + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Epignathus' SubClassOf 'clinical subtype' + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' Class: http://www.orpha.net/ORDO/Orphanet_160067 Label: complement component 4A (Rodgers blood group) - 'complement component 4A (Rodgers blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 4A (Rodgers blood group)' SubClassOf 'gene' - 'complement component 4A (Rodgers blood group)' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'complement component 4A (Rodgers blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 4A (Rodgers blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 4A (Rodgers blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 4A (Rodgers blood group)' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' Class: http://www.orpha.net/ORDO/Orphanet_295154 Label: Polydactyly of an index finger, bilateral - 'Polydactyly of an index finger, bilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger' - 'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of an index finger, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_295159 Label: Polysyndactyly, unilateral - 'Polysyndactyly, unilateral' SubClassOf 'part_of' some 'Polysyndactyly' - 'Polysyndactyly, unilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, unilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_160064 Label: complement component 3 - 'complement component 3' SubClassOf 'gene' - 'complement component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complement component 3 deficiency' - 'complement component 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with C3 anomaly' + 'complement component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complement component 3 deficiency' + 'complement component 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with C3 anomaly' + 'complement component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_220465 Label: Laron syndrome with immunodeficiency - 'Laron syndrome with immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laron syndrome with immunodeficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Laron syndrome with immunodeficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Laron syndrome with immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Laron syndrome with immunodeficiency' SubClassOf 'disease' + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Laron syndrome with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Laron syndrome with immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Laron syndrome with immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233025 Label: RNA binding motif protein 10 - 'RNA binding motif protein 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'TARP syndrome' - 'RNA binding motif protein 10' SubClassOf 'gene' + 'RNA binding motif protein 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'TARP syndrome' + 'RNA binding motif protein 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_173562 Label: LMBR1 domain containing 1 - 'LMBR1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria type cblF' - 'LMBR1 domain containing 1' SubClassOf 'gene' + 'LMBR1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria type cblF' + 'LMBR1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'LMBR1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_220460 Label: Attenuated familial adenomatous polyposis - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Attenuated familial adenomatous polyposis' SubClassOf 'disease' - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Attenuated familial adenomatous polyposis' SubClassOf 'disease' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95699 Label: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_295152 Label: Polydactyly of an index finger, unilateral - 'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype' - 'Polydactyly of an index finger, unilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger' + 'Polydactyly of an index finger, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of an index finger' + 'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295150 Label: Polydactyly of a triphalangeal thumb, bilateral - 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb' - 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_141083 Label: Nasolacrimal duct cyst - 'Nasolacrimal duct cyst' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasolacrimal duct cyst' SubClassOf 'malformation syndrome' + 'Nasolacrimal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Nasolacrimal duct cyst' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123010 Label: LIM domain binding 3 - 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'LIM domain binding 3' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset distal myopathy, Markesbery-Griggs type' - 'LIM domain binding 3' SubClassOf 'gene' + 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'LIM domain binding 3' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'LIM domain binding 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM domain binding 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3-q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset distal myopathy, Markesbery-Griggs type' Class: http://www.orpha.net/ORDO/Orphanet_3440 Label: Waardenburg syndrome - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Waardenburg syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Waardenburg syndrome' SubClassOf 'disease' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' - 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Waardenburg syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Waardenburg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf 'disease' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_3447 Label: Weaver syndrome - 'Weaver syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weaver syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Weaver syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Weaver syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Weaver syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weaver syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weaver syndrome' SubClassOf 'malformation syndrome' - 'Weaver syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Weaver syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf 'malformation syndrome' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Weaver syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weaver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weaver syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_356190 Label: polymerase (DNA directed), epsilon, catalytic subunit - 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facial dysmorphism - immunodeficiency - livedo - short stature' - 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'gene' + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facial dysmorphism - immunodeficiency - livedo - short stature' Class: http://www.orpha.net/ORDO/Orphanet_3449 Label: Weill-Marchesani syndrome - 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Weill-Marchesani syndrome' SubClassOf 'malformation syndrome' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Lens size anomaly' - 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weill-Marchesani syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Weill-Marchesani syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weill-Marchesani syndrome' SubClassOf 'malformation syndrome' + 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' + 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3448 Label: Weaver-Williams syndrome - 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weaver-Williams syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' - 'Weaver-Williams syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Weaver-Williams syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver-Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123017 Label: lactate dehydrogenase B - 'lactate dehydrogenase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' - 'lactate dehydrogenase B' SubClassOf 'gene' + 'lactate dehydrogenase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' + 'lactate dehydrogenase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.2-p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'lactate dehydrogenase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123015 Label: lactate dehydrogenase A - 'lactate dehydrogenase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' - 'lactate dehydrogenase A' SubClassOf 'gene' + 'lactate dehydrogenase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' + 'lactate dehydrogenase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lactate dehydrogenase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295142 Label: Hyperphalangy, bilateral - 'Hyperphalangy, bilateral' SubClassOf 'part_of' some 'Hyperphalangy' - 'Hyperphalangy, bilateral' SubClassOf 'clinical subtype' + 'Hyperphalangy, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphalangy' + 'Hyperphalangy, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295144 Label: Polydactyly of a biphalangeal thumb, unilateral - 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb' - 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a biphalangeal thumb' + 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295146 Label: Polydactyly of a biphalangeal thumb, bilateral - 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb' - 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_220452 Label: Inherited giant platelet disorder - 'Inherited giant platelet disorder' SubClassOf 'group of disorders' + 'Inherited giant platelet disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295148 Label: Polydactyly of a triphalangeal thumb, unilateral - 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb' - 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_233035 Label: FK506 binding protein 10, 65 kDa - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bruck syndrome' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis-like syndrome' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'gene' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' + 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis-like syndrome' + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bruck syndrome' + 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206492 Label: Vulvovaginal rhabdomyosarcoma - 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'disease' - 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' + 'Vulvovaginal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' + 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233032 Label: low density lipoprotein receptor-related protein 4 - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sclerosteosis' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cenani-Lenz syndrome' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'gene' + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cenani-Lenz syndrome' + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sclerosteosis' + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295140 Label: Hyperphalangy, unilateral - 'Hyperphalangy, unilateral' SubClassOf 'part_of' some 'Hyperphalangy' - 'Hyperphalangy, unilateral' SubClassOf 'clinical subtype' + 'Hyperphalangy, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphalangy' + 'Hyperphalangy, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376557 Label: adenosine monophosphate deaminase 2 - 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 63' - 'adenosine monophosphate deaminase 2' SubClassOf 'gene' - 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 9' + 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 63' + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pontocerebellar hypoplasia type 9' Class: http://www.orpha.net/ORDO/Orphanet_180253 Label: Rare benign breast tumor - 'Rare benign breast tumor' SubClassOf 'group of disorders' + 'Rare benign breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180250 Label: Rare breast tumor - 'Rare breast tumor' SubClassOf 'group of disorders' + 'Rare breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157794 Label: Hereditary mixed polyposis syndrome - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Hereditary mixed polyposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary mixed polyposis syndrome' SubClassOf 'disease' - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Hereditary mixed polyposis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Hereditary mixed polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary mixed polyposis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary mixed polyposis syndrome' SubClassOf 'disease' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_399786 Label: Male infertility with spermatogenesis disorder due to single gene mutation - 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157791 Label: Epithelioid hemangioendothelioma - 'Epithelioid hemangioendothelioma' SubClassOf 'disease' - 'Epithelioid hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Epithelioid hemangioendothelioma' SubClassOf 'part_of' some 'Vascular tumor' + 'Epithelioid hemangioendothelioma' SubClassOf 'disease' + 'Epithelioid hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Epithelioid hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_1340 Label: Cardiofaciocutaneous syndrome - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'malformation syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cardiofaciocutaneous syndrome' SubClassOf 'malformation syndrome' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180247 Label: Vaginal carcinoma - 'Vaginal carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' - 'Vaginal carcinoma' SubClassOf 'disease' + 'Vaginal carcinoma' SubClassOf 'disease' + 'Vaginal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1342 Label: Heart-hand syndrome type 3 - 'Heart-hand syndrome type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Heart-hand syndrome type 3' SubClassOf 'malformation syndrome' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180245 Label: spastic paraplegia 38 (autosomal dominant, Silver syndrome) - 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'gene' - 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 38' + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 38' + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16-p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122204 Label: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1344 Label: Atrial stand still - 'Atrial stand still' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Atrial stand still' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Atrial stand still' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Atrial stand still' SubClassOf 'has_inheritance' some 'sporadic' - 'Atrial stand still' SubClassOf 'has_prevalence' some 'Unknown' - 'Atrial stand still' SubClassOf 'disease' - 'Atrial stand still' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Atrial stand still' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atrial stand still' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Atrial stand still' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atrial stand still' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Atrial stand still' SubClassOf 'disease' + 'Atrial stand still' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1345 Label: Cardiomyopathy - cataract - hip spine disease - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'clinical syndrome' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'clinical syndrome' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_122207 Label: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'gene' - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Nonaka type' - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialuria' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Nonaka type' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialuria' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_157798 Label: Hyperplastic polyposis syndrome - 'Hyperplastic polyposis syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Hyperplastic polyposis syndrome' SubClassOf 'disease' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Hyperplastic polyposis syndrome' SubClassOf 'disease' + 'Hyperplastic polyposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_1349 Label: Maternally-inherited cardiomyopathy and hearing loss - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'malformation syndrome' + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122202 Label: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280397 Label: Familial Alzheimer-like prion disease - 'Familial Alzheimer-like prion disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial Alzheimer-like prion disease' SubClassOf 'part_of' some 'Inherited prion disease' - 'Familial Alzheimer-like prion disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial Alzheimer-like prion disease' SubClassOf 'disease' - 'Familial Alzheimer-like prion disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial Alzheimer-like prion disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial Alzheimer-like prion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Familial Alzheimer-like prion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial Alzheimer-like prion disease' SubClassOf 'disease' + 'Familial Alzheimer-like prion disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_34514 Label: Autosomal recessive limb-girdle muscular dystrophy type 2G - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'part_of' some 'Qualitative or quantitative defects of telethonin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of telethonin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_376545 Label: interphotoreceptor matrix proteoglycan 1 - 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' - 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'gene' + 'interphotoreceptor matrix proteoglycan 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interphotoreceptor matrix proteoglycan 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.2-q15"^^http://www.w3.org/2001/XMLSchema#string + 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_34515 Label: Autosomal recessive limb-girdle muscular dystrophy type 2I - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Qualitative or quantitative defects of FKRP' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of FKRP' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_280390 Label: ER lipid raft associated 2 - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile primary lateral sclerosis' - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 18' - 'ER lipid raft associated 2' SubClassOf 'gene' + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Juvenile primary lateral sclerosis' + 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' + 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 18' + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180240 Label: spastic paraplegia 37 (autosomal dominant) - 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 37' - 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 37' + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_218672 Label: glycerol-3-phosphate dehydrogenase 1-like - 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'gene' - 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180242 Label: Malignant tumor of fallopian tubes - 'Malignant tumor of fallopian tubes' SubClassOf 'disease' - 'Malignant tumor of fallopian tubes' SubClassOf 'part_of' some 'Rare uterine adnexal tumor' - 'Malignant tumor of fallopian tubes' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare uterine adnexal tumor' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf 'disease' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_180237 Label: Benign tumor of fallopian tubes - 'Benign tumor of fallopian tubes' SubClassOf 'part_of' some 'Rare uterine adnexal tumor' - 'Benign tumor of fallopian tubes' SubClassOf 'disease' + 'Benign tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare uterine adnexal tumor' + 'Benign tumor of fallopian tubes' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_239021 Label: twist family bHLH transcription factor 2 - 'twist family bHLH transcription factor 2' SubClassOf 'gene' - 'twist family bHLH transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type III' + 'twist family bHLH transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'twist family bHLH transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'twist family bHLH transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type III' Class: http://www.orpha.net/ORDO/Orphanet_399775 Label: Male infertility with spermatogenesis disorder - 'Male infertility with spermatogenesis disorder' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1352 Label: Atrioventricular defect - blepharophimosis -radial defects - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'malformation syndrome' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Ptosis' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'malformation syndrome' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_180234 Label: Mixed germ cell tumor - 'Mixed germ cell tumor' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Mixed germ cell tumor' SubClassOf 'disease' + 'Mixed germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Mixed germ cell tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1350 Label: Heart-hand syndrome type 2 - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome type 2' SubClassOf 'malformation syndrome' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Heart-hand syndrome' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heart-hand syndrome type 2' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218675 Label: sodium channel, voltage-gated, type III, beta subunit - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'gene' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1354 Label: Heart defects - limb shortening - 'Heart defects - limb shortening' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart defects - limb shortening' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defects - limb shortening' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Heart defects - limb shortening' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defects - limb shortening' SubClassOf 'malformation syndrome' - 'Heart defects - limb shortening' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Heart defects - limb shortening' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Heart defects - limb shortening' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Heart defects - limb shortening' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects - limb shortening' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects - limb shortening' SubClassOf 'malformation syndrome' + 'Heart defects - limb shortening' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1355 Label: Heart defect - round face - congenital developmental delay - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'malformation syndrome' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Heart defect - round face - congenital developmental delay' SubClassOf 'malformation syndrome' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122216 Label: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 2' - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'gene' - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 3' + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 2' + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_1358 Label: Carey-Fineman-Ziter syndrome - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'malformation syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carey-Fineman-Ziter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carey-Fineman-Ziter syndrome' SubClassOf 'malformation syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122211 Label: glyceronephosphate O-acyltransferase - 'glyceronephosphate O-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 2' - 'glyceronephosphate O-acyltransferase' SubClassOf 'gene' + 'glyceronephosphate O-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42"^^http://www.w3.org/2001/XMLSchema#string + 'glyceronephosphate O-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 2' + 'glyceronephosphate O-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399771 Label: Male infertility due to sperm disorder - 'Male infertility due to sperm disorder' SubClassOf 'group of disorders' + 'Male infertility due to sperm disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1359 Label: Carney complex - 'Carney complex' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' - 'Carney complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carney complex' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Carney complex' SubClassOf 'part_of' some 'Multiple polyglandular tumor' - 'Carney complex' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Carney complex' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Carney complex' SubClassOf 'part_of' some 'Genetic cardiac tumor' - 'Carney complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carney complex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Carney complex' SubClassOf 'part_of' some 'Mesenchymatous palpebral tumor' - 'Carney complex' SubClassOf 'disease' - 'Carney complex' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Carney complex' SubClassOf 'part_of' some 'Palpebral lentiginosis' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesenchymatous palpebral tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral lentiginosis' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Carney complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Carney complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carney complex' SubClassOf 'disease' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' + 'Carney complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Carney complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_34521 Label: Distal myopathy with early respiratory muscle involvement - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'disease' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'disease' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy with early respiratory muscle involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_376535 Label: DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 - 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 14' - 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'gene' + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 14' Class: http://www.orpha.net/ORDO/Orphanet_34520 Label: Congenital muscular dystrophy with integrin alpha-7 deficiency - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'part_of' some 'Qualitative or quantitative defects of integrin alpha-7' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'disease' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'disease' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of integrin alpha-7' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label: Familial primary hypomagnesemia - 'Familial primary hypomagnesemia' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial primary hypomagnesemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_404440 Label: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251307 Label: Idiopathic recurrent pericarditis - 'Idiopathic recurrent pericarditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic recurrent pericarditis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic recurrent pericarditis' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Idiopathic recurrent pericarditis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic recurrent pericarditis' SubClassOf 'disease' + 'Idiopathic recurrent pericarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic recurrent pericarditis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic recurrent pericarditis' SubClassOf 'disease' + 'Idiopathic recurrent pericarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180270 Label: spastic paraplegia 24 (autosomal recessive) - 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 24' - 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'gene' + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 24' + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251304 Label: Infantile onset panniculitis with uveitis and systemic granulomatosis - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'disease' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'disease' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180275 Label: Paget disease of the nipple - 'Paget disease of the nipple' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Paget disease of the nipple' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Paget disease of the nipple' SubClassOf 'disease' + 'Paget disease of the nipple' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Paget disease of the nipple' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paget disease of the nipple' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180273 Label: DDHD domain containing 1 - 'DDHD domain containing 1' SubClassOf 'gene' - 'DDHD domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 28' + 'DDHD domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21"^^http://www.w3.org/2001/XMLSchema#string + 'DDHD domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 28' + 'DDHD domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1361 Label: Carnosinemia - 'Carnosinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnosinemia' SubClassOf 'disease' - 'Carnosinemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Carnosinemia' SubClassOf 'part_of' some 'Disorder of peptide metabolism' - 'Carnosinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Carnosinemia' SubClassOf 'disease' + 'Carnosinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peptide metabolism' + 'Carnosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnosinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnosinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_404448 Label: ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'malformation syndrome' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180267 Label: Giant adenofibroma of the breast - 'Giant adenofibroma of the breast' SubClassOf 'disease' - 'Giant adenofibroma of the breast' SubClassOf 'part_of' some 'Rare benign breast tumor' + 'Giant adenofibroma of the breast' SubClassOf 'disease' + 'Giant adenofibroma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_404443 Label: Tall stature-intellectual disability-facial dysmorphism syndrome - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_399764 Label: Male infertility due to gonadal dysgenesis or sperm disorder - 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'group of disorders' + 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_239011 Label: lysine (K)-specific methyltransferase 2D - 'lysine (K)-specific methyltransferase 2D' SubClassOf 'gene' - 'lysine (K)-specific methyltransferase 2D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' + 'lysine (K)-specific methyltransferase 2D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysine (K)-specific methyltransferase 2D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'lysine (K)-specific methyltransferase 2D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251312 Label: Overlapping connective tissue disease - 'Overlapping connective tissue disease' SubClassOf 'group of disorders' + 'Overlapping connective tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156202 Label: Otomandibular dysplasia associated with monogenic syndromes - 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'group of disorders' + 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1369 Label: Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Cardiac disease with cataract' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cardiac disease with cataract' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_34517 Label: Autosomal dominant limb-girdle muscular dystrophy type 1E - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_34516 Label: Autosomal dominant limb-girdle muscular dystrophy type 1D - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254343 Label: Autosomal recessive spastic ataxia - optic atrophy - dysarthria - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_306073 Label: sortilin-related receptor, L(DLR class) A repeats containing - 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'gene' - 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.2-q24.4"^^http://www.w3.org/2001/XMLSchema#string + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1366 Label: Autosomal recessive palmoplantar keratoderma and congenital alopecia - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156207 Label: Macroglossia - 'Macroglossia' SubClassOf 'group of disorders' + 'Macroglossia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1368 Label: Cataract - ataxia - deafness - 'Cataract - ataxia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cataract - ataxia - deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - ataxia - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - ataxia - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - ataxia - deafness' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Cataract - ataxia - deafness' SubClassOf 'malformation syndrome' + 'Cataract - ataxia - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Cataract - ataxia - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - ataxia - deafness' SubClassOf 'malformation syndrome' + 'Cataract - ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cataract - ataxia - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254346 Label: 19p13.12 microdeletion syndrome - '19p13.12 microdeletion syndrome' SubClassOf 'malformation syndrome' - '19p13.12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 19' - '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '19p13.12 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '19p13.12 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '19p13.12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19p13.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 19' + '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_34533 Label: Corneal dystrophy - 'Corneal dystrophy' SubClassOf 'group of disorders' + 'Corneal dystrophy' SubClassOf 'group of disorders' + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "110.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_325620 Label: Disorder of sex development of gynecological interest - 'Disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180261 Label: Phyllode tumor - 'Phyllode tumor' SubClassOf 'disease' - 'Phyllode tumor' SubClassOf 'part_of' some 'Rare benign breast tumor' - 'Phyllode tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Phyllode tumor' SubClassOf 'disease' + 'Phyllode tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' + 'Phyllode tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_239001 Label: interphotoreceptor matrix proteoglycan 2 - 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'gene' - 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'interphotoreceptor matrix proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interphotoreceptor matrix proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q12.2-q12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1375 Label: Cataract - hypertrichosis - intellectual disability - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Hypertrichosis' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'malformation syndrome' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Syndromic cataract' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'malformation syndrome' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180257 Label: Rare malignant breast tumor - 'Rare malignant breast tumor' SubClassOf 'group of disorders' + 'Rare malignant breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404437 Label: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'malformation syndrome' - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'malformation syndrome' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1373 Label: Cataract - aberrant oral frenula - growth delay - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'malformation syndrome' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'malformation syndrome' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_34528 Label: Autosomal dominant primary hypomagnesemia with hypocalciuria - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypocalcuria' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'disease' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypocalcuria' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_156215 Label: Oromandibular-limb anomalies syndrome - 'Oromandibular-limb anomalies syndrome' SubClassOf 'group of disorders' + 'Oromandibular-limb anomalies syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label: Familial primary hypomagnesemia with normocalcuria and normocalcemia - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with normocalcuria' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with normocalcuria' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_156212 Label: Hypoglossia/aglossia - 'Hypoglossia/aglossia' SubClassOf 'group of disorders' + 'Hypoglossia/aglossia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254334 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'part_of' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1376 Label: Congenital cataract - ichthyosis - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Congenital cataract - ichthyosis' SubClassOf 'disease' - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Dentocutaneous disease with cataract' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentocutaneous disease with cataract' + 'Congenital cataract - ichthyosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320535 Label: EPS8-like 3 - 'EPS8-like 3' SubClassOf 'gene' - 'EPS8-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' + 'EPS8-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EPS8-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' + 'EPS8-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1377 Label: Cataract-microcornea syndrome - 'Cataract-microcornea syndrome' SubClassOf 'malformation syndrome' - 'Cataract-microcornea syndrome' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Cataract-microcornea syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract-microcornea syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract-microcornea syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract-microcornea syndrome' SubClassOf 'malformation syndrome' + 'Cataract-microcornea syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cataract-microcornea syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324625 Label: Chikungunya - 'Chikungunya' SubClassOf 'disease' - 'Chikungunya' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chikungunya' SubClassOf 'has_prevalence' some 'Unknown' - 'Chikungunya' SubClassOf 'part_of' some 'Arbovirus fever' + 'Chikungunya' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Chikungunya' SubClassOf 'disease' + 'Chikungunya' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arbovirus fever' + 'Chikungunya' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_251328 Label: Unclassified vasculitis - 'Unclassified vasculitis' SubClassOf 'group of disorders' + 'Unclassified vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325632 Label: 46,XY disorder of sex development of gynecological interest - '46,XY disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + '46,XY disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280365 Label: Autosomal codominant severe lipodystrophic laminopathy - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'disease' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168629 Label: Autosomal thrombocytopenia with normal platelets - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'part_of' some 'Hereditary thrombocytopenia with normal platelets' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_325638 Label: Syndrome with disorder of sex development of gynecological interest - 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280360 Label: perilipin 1 - 'perilipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PLIN1 mutations' - 'perilipin 1' SubClassOf 'gene' + 'perilipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PLIN1 mutations' + 'perilipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26"^^http://www.w3.org/2001/XMLSchema#string + 'perilipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1388 Label: Catel-Manzke syndrome - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Catel-Manzke syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Catel-Manzke syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Catel-Manzke syndrome' SubClassOf 'malformation syndrome' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Catel-Manzke syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Catel-Manzke syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Catel-Manzke syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Catel-Manzke syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Catel-Manzke syndrome' SubClassOf 'malformation syndrome' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1387 Label: Cataract - intellectual disability - hypogonadism - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'malformation syndrome' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'malformation syndrome' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - intellectual disability - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_168632 Label: Generalized basaloid follicular hamartoma syndrome - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'disease' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1389 Label: Cortical blindness - intellectual disability - polydactyly - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'malformation syndrome' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'malformation syndrome' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280356 Label: Familial partial lipodystrophy associated with PLIN1 mutations - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'disease' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180208 Label: Anomaly of puberty or/and menstrual cycle - 'Anomaly of puberty or/and menstrual cycle' SubClassOf 'group of disorders' + 'Anomaly of puberty or/and menstrual cycle' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404466 Label: Female infertility due to zona pellucida defect - 'Female infertility due to zona pellucida defect' SubClassOf 'disease' - 'Female infertility due to zona pellucida defect' SubClassOf 'part_of' some 'Female infertility due to fertilization defect' + 'Female infertility due to zona pellucida defect' SubClassOf 'disease' + 'Female infertility due to zona pellucida defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to fertilization defect' Class: http://www.orpha.net/ORDO/Orphanet_1380 Label: Cataract - nephropathy - encephalopathy - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'malformation syndrome' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - nephropathy - encephalopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180205 Label: Rare non-malformative uterovaginal or vulvovaginal disease - 'Rare non-malformative uterovaginal or vulvovaginal disease' SubClassOf 'group of disorders' + 'Rare non-malformative uterovaginal or vulvovaginal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404463 Label: Multisystemic smooth muscle dysfunction syndrome - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_1381 Label: Cataract - intellectual disability - anal atresia - urinary defects - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'malformation syndrome' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'malformation syndrome' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_404469 Label: Female infertility due to fertilization defect - 'Female infertility due to fertilization defect' SubClassOf 'group of disorders' + 'Female infertility due to fertilization defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1383 Label: Cataract - deafness - hypogonadism - 'Cataract - deafness - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cataract - deafness - hypogonadism' SubClassOf 'malformation syndrome' - 'Cataract - deafness - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - deafness - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_180202 Label: Rare non-malformative breast disease - 'Rare non-malformative breast disease' SubClassOf 'group of disorders' + 'Rare non-malformative breast disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228190 Label: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'malformation syndrome' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'malformation syndrome' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251332 Label: Unexplained long-lasting fever/inflammatory syndrome - 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'group of disorders' + 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324636 Label: Autoerythrocyte sensitization syndrome - 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'part_of' some 'Autoimmune disease with skin involvement' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'disease' + 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoerythrocyte sensitization syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune disease with skin involvement' + 'Autoerythrocyte sensitization syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98805 Label: Primary dystonia, DYT4 type - 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Primary dystonia, DYT4 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Primary dystonia, DYT4 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT4 type' SubClassOf 'disease' - 'Primary dystonia, DYT4 type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Primary dystonia, DYT4 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Primary dystonia, DYT4 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT4 type' SubClassOf 'disease' + 'Primary dystonia, DYT4 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_251316 Label: Unclassified overlapping connective tissue disease - 'Unclassified overlapping connective tissue disease' SubClassOf 'disease' - 'Unclassified overlapping connective tissue disease' SubClassOf 'part_of' some 'Overlapping connective tissue disease' + 'Unclassified overlapping connective tissue disease' SubClassOf 'disease' + 'Unclassified overlapping connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overlapping connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_98807 Label: Primary dystonia, DYT13 type - 'Primary dystonia, DYT13 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Primary dystonia, DYT13 type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary dystonia, DYT13 type' SubClassOf 'disease' - 'Primary dystonia, DYT13 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT13 type' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary dystonia, DYT13 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT13 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT13 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary dystonia, DYT13 type' SubClassOf 'disease' + 'Primary dystonia, DYT13 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_98806 Label: Primary dystonia, DYT6 type - 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Primary dystonia, DYT6 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT6 type' SubClassOf 'part_of' some 'Generalized isolated dystonia' - 'Primary dystonia, DYT6 type' SubClassOf 'disease' - 'Primary dystonia, DYT6 type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Primary dystonia, DYT6 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT6 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary dystonia, DYT6 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized isolated dystonia' + 'Primary dystonia, DYT6 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404451 Label: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'malformation syndrome' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98809 Label: Paroxysmal kinesigenic dyskinesia - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'sporadic' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98808 Label: Autosomal dominant dopa-responsive dystonia - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'part_of' some 'Disorder of pterin metabolism' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'part_of' some 'Dopa-responsive dystonia' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pterin metabolism' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_324632 Label: Hendra virus infection - 'Hendra virus infection' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Hendra virus infection' SubClassOf 'disease' - 'Hendra virus infection' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hendra virus infection' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hendra virus infection' SubClassOf 'disease' + 'Hendra virus infection' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hendra virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Hendra virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_376502 Label: F-box and leucine-rich repeat protein 4 - 'F-box and leucine-rich repeat protein 4' SubClassOf 'gene' - 'F-box and leucine-rich repeat protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.1-q16.3"^^http://www.w3.org/2001/XMLSchema#string + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_50943 Label: Keratolytic winter erythema - 'Keratolytic winter erythema' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Keratolytic winter erythema' SubClassOf 'disease' - 'Keratolytic winter erythema' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Keratolytic winter erythema' SubClassOf 'disease' + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_168621 Label: Dysplasia of head of femur, Meyer type - 'Dysplasia of head of femur, Meyer type' SubClassOf 'disease' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_prevalence' some 'Unknown' + 'Dysplasia of head of femur, Meyer type' SubClassOf 'disease' + 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dysplasia of head of femur, Meyer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_50944 Label: Sch�pf-Schulz-Passarge syndrome - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_50945 Label: Chondrodysplasia, Blomstrand type - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'malformation syndrome' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Chondrodysplasia, Blomstrand type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chondrodysplasia, Blomstrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Chondrodysplasia, Blomstrand type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1399 Label: Richards-Rundle syndrome - 'Richards-Rundle syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Richards-Rundle syndrome' SubClassOf 'malformation syndrome' - 'Richards-Rundle syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Richards-Rundle syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Richards-Rundle syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Richards-Rundle syndrome' SubClassOf 'malformation syndrome' + 'Richards-Rundle syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1398 Label: Isolated cerebellar hypoplasia/agenesis - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'part_of' some 'Global cerebellar malformation' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'morphological anomaly' + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Global cerebellar malformation' + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280347 Label: dystroglycan 1 (dystrophin-associated glycoprotein 1) - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2P' - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'gene' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2P' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_168624 Label: Familial scaphocephaly syndrome, McGillivray type - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'malformation syndrome' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'malformation syndrome' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_50942 Label: Keratosis palmoplantaris striata - 'Keratosis palmoplantaris striata' SubClassOf 'disease' - 'Keratosis palmoplantaris striata' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' - 'Keratosis palmoplantaris striata' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Keratosis palmoplantaris striata' SubClassOf 'disease' + 'Keratosis palmoplantaris striata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis palmoplantaris striata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_1393 Label: Cerebro-costo-mandibular syndrome - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'malformation syndrome' + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Cerebro-costo-mandibular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404454 Label: Alacrimia-choreoathetosis-liver dysfunction syndrome - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1390 Label: Night blindness - skeletal anomalies - dysmorphism - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'malformation syndrome' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'malformation syndrome' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251325 Label: Drug-induced vasculitis - 'Drug-induced vasculitis' SubClassOf 'group of disorders' + 'Drug-induced vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1397 Label: Cerebellum agenesis - hydrocephaly - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'malformation syndrome' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'malformation syndrome' + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cerebellum agenesis - hydrocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1396 Label: Cerebro-reno-digital syndrome - 'Cerebro-reno-digital syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-reno-digital syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Cerebro-reno-digital syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Cerebro-reno-digital syndrome' SubClassOf 'malformation syndrome' + 'Cerebro-reno-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Cerebro-reno-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_98810 Label: Paroxysmal non-kinesigenic dyskinesia - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'disease' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_1394 Label: Cerebro-facio-thoracic dysplasia - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'malformation syndrome' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'malformation syndrome' + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebro-facio-thoracic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_324648 Label: Invasive non-typhoidal salmonellosis - 'Invasive non-typhoidal salmonellosis' SubClassOf 'disease' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'part_of' some 'Rare form of salmonellosis' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Invasive non-typhoidal salmonellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare form of salmonellosis' + 'Invasive non-typhoidal salmonellosis' SubClassOf 'disease' + 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404481 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180232 Label: spastic paraplegia 29 (autosomal dominant) - 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 29' - 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1-p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 29' Class: http://www.orpha.net/ORDO/Orphanet_280384 Label: Recessive intellectual disability - motor dysfunction - multiple joint contractures - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'disease' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'disease' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_168609 Label: Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_168606 Label: Seborrhea-like dermatitis with psoriasiform elements - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'disease' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'part_of' some 'Genetic epidermal disorder' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'disease' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic epidermal disorder' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_168615 Label: Hereditary persistence of alpha-fetoprotein - 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'malformation syndrome' - 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'part_of' some 'Rare genetic disease' + 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'malformation syndrome' + 'Hereditary persistence of alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_280379 Label: Erythropoietic uroporphyria associated with myeloid malignancy - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'part_of' some 'Porphyria' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porphyria' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_168612 Label: Congenital deficiency in alpha-fetoprotein - 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'morphological anomaly' - 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'part_of' some 'Rare genetic disease' + 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'morphological anomaly' + 'Congenital deficiency in alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_180224 Label: spastic paraplegia 9 (autosomal dominant) - 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'gene' - 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 9' + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2-q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 9' Class: http://www.orpha.net/ORDO/Orphanet_180229 Label: Polyembryoma - 'Polyembryoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Polyembryoma' SubClassOf 'disease' + 'Polyembryoma' SubClassOf 'disease' + 'Polyembryoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_267088 Label: Rho GTPase activating protein 31 - 'Rho GTPase activating protein 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' - 'Rho GTPase activating protein 31' SubClassOf 'gene' + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Adams-Oliver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251355 Label: Sickle cell disease associated with an other hemoglobin anomaly - 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'group of disorders' + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180226 Label: Embryonal carcinoma - 'Embryonal carcinoma' SubClassOf 'disease' - 'Embryonal carcinoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Embryonal carcinoma' SubClassOf 'disease' + 'Embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_325665 Label: Genetic disorder of sex development of gynecological interest - 'Genetic disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Genetic disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label: Severe intellectual disability-progressive spastic diplegia syndrome - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'malformation syndrome' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'malformation syndrome' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180220 Label: Rare uterine adnexal tumor - 'Rare uterine adnexal tumor' SubClassOf 'group of disorders' + 'Rare uterine adnexal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_232035 Label: Infectious embryofetopathy - 'Infectious embryofetopathy' SubClassOf 'group of disorders' + 'Infectious embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168601 Label: Congenital enteropathy due to enteropeptidase deficiency - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'disease' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'disease' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_180211 Label: reticulon 2 - 'reticulon 2' SubClassOf 'gene' - 'reticulon 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 12' + 'reticulon 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'reticulon 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'reticulon 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 12' Class: http://www.orpha.net/ORDO/Orphanet_180213 Label: spastic paraplegia 19 (autosomal dominant) - 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'gene' - 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 19' + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 19' Class: http://www.orpha.net/ORDO/Orphanet_180215 Label: solute carrier family 33 (acetyl-CoA transporter), member 1 - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract-hearing loss-severe developmental delay syndrome' - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'gene' - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 42' + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract-hearing loss-severe developmental delay syndrome' + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 42' Class: http://www.orpha.net/ORDO/Orphanet_404476 Label: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Rare renal tumor' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'malformation syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'malformation syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251347 Label: Ataxia-telangiectasia-like disorder - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'disease' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_prevalence' some 'Unknown' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Skin vascular disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia-telangiectasia-like disorder' SubClassOf 'disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_122286 Label: G protein-coupled receptor kinase 1 - 'G protein-coupled receptor kinase 1' SubClassOf 'gene' - 'G protein-coupled receptor kinase 1' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' - 'G protein-coupled receptor kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' + 'G protein-coupled receptor kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor kinase 1' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' + 'G protein-coupled receptor kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' Class: http://www.orpha.net/ORDO/Orphanet_98841 Label: Anaplastic large cell lymphoma - 'Anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Anaplastic large cell lymphoma' SubClassOf 'disease' - 'Anaplastic large cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Anaplastic large cell lymphoma' SubClassOf 'disease' + 'Anaplastic large cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122282 Label: glutamate receptor, ionotropic, AMPA 3 - 'glutamate receptor, ionotropic, AMPA 3' SubClassOf 'gene' - 'glutamate receptor, ionotropic, AMPA 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability due to GRIA3 anomalies' + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked intellectual disability due to GRIA3 anomalies' + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98843 Label: Nodular sclerosis classical Hodgkin lymphoma - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98842 Label: Lymphomatoid papulosis - 'Lymphomatoid papulosis' SubClassOf 'part_of' some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' - 'Lymphomatoid papulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphomatoid papulosis' SubClassOf 'disease' + 'Lymphomatoid papulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' + 'Lymphomatoid papulosis' SubClassOf 'disease' + 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_352728 Label: Disorder of melanin metabolism - 'Disorder of melanin metabolism' SubClassOf 'group of disorders' + 'Disorder of melanin metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157713 Label: Congenital or early infantile CACH syndrome - 'Congenital or early infantile CACH syndrome' SubClassOf 'clinical subtype' - 'Congenital or early infantile CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Congenital or early infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' + 'Congenital or early infantile CACH syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159507 Label: grainyhead-like 2 (Drosophila) - 'grainyhead-like 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'grainyhead-like 2 (Drosophila)' SubClassOf 'gene' + 'grainyhead-like 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'grainyhead-like 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'grainyhead-like 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138059 Label: Teratogenic Pierre Robin syndrome - 'Teratogenic Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Teratogenic Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159501 Label: nonhomologous end-joining factor 1 - 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' - 'nonhomologous end-joining factor 1' SubClassOf 'gene' - 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cernunnos-XLF deficiency' + 'nonhomologous end-joining factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' + 'nonhomologous end-joining factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cernunnos-XLF deficiency' Class: http://www.orpha.net/ORDO/Orphanet_138055 Label: Pierre Robin syndrome associated with bone disease - 'Pierre Robin syndrome associated with bone disease' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138050 Label: Pierre Robin syndrome associated with branchial archs anomalies - 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228157 Label: Marburg acute multiple sclerosis - 'Marburg acute multiple sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Marburg acute multiple sclerosis' SubClassOf 'disease' - 'Marburg acute multiple sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Marburg acute multiple sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Marburg acute multiple sclerosis' SubClassOf 'part_of' some 'Multiple sclerosis variant' + 'Marburg acute multiple sclerosis' SubClassOf 'disease' + 'Marburg acute multiple sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Marburg acute multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Marburg acute multiple sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98833 Label: Acute myeloblastic leukemia without maturation - 'Acute myeloblastic leukemia without maturation' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute myeloblastic leukemia without maturation' SubClassOf 'disease' - 'Acute myeloblastic leukemia without maturation' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia without maturation' SubClassOf 'disease' + 'Acute myeloblastic leukemia without maturation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia without maturation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_325673 Label: spastic paraplegia 36 (autosomal dominant) - 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 36' - 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 36' + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_98834 Label: Acute myeloblastic leukemia with maturation - 'Acute myeloblastic leukemia with maturation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute myeloblastic leukemia with maturation' SubClassOf 'disease' - 'Acute myeloblastic leukemia with maturation' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia with maturation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia with maturation' SubClassOf 'disease' + 'Acute myeloblastic leukemia with maturation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_98835 Label: Acute undifferentiated leukemia - 'Acute undifferentiated leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' - 'Acute undifferentiated leukemia' SubClassOf 'disease' + 'Acute undifferentiated leukemia' SubClassOf 'disease' + 'Acute undifferentiated leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_325671 Label: spastic paraplegia 41 (autosomal dominant) - 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 41' - 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 41' + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.1-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_98836 Label: Bilineal acute leukemia - 'Bilineal acute leukemia' SubClassOf 'disease' - 'Bilineal acute leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' + 'Bilineal acute leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' + 'Bilineal acute leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98837 Label: Acute biphenotypic leukemia - 'Acute biphenotypic leukemia' SubClassOf 'disease' - 'Acute biphenotypic leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' + 'Acute biphenotypic leukemia' SubClassOf 'disease' + 'Acute biphenotypic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_98838 Label: Primary mediastinal large B-cell lymphoma - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'disease' - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary mediastinal large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary mediastinal large B-cell lymphoma' SubClassOf 'disease' + 'Primary mediastinal large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_361372 Label: storkhead box 1 - 'storkhead box 1' SubClassOf 'Major susceptibility factor in' some 'Preeclampsia' - 'storkhead box 1' SubClassOf 'gene' + 'storkhead box 1' SubClassOf 'Major susceptibility factor in' some 'Preeclampsia' + 'storkhead box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'storkhead box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352734 Label: Minimal pigment oculocutaneous albinism type 1 - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98839 Label: Intravascular large B-cell lymphoma - 'Intravascular large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Intravascular large B-cell lymphoma' SubClassOf 'disease' + 'Intravascular large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' + 'Intravascular large B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352731 Label: Oculocutaneous albinism type 1 - 'Oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 1' SubClassOf 'disease' - 'Oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 1' SubClassOf 'disease' + 'Oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98850 Label: Aggressive systemic mastocytosis - 'Aggressive systemic mastocytosis' SubClassOf 'disease' - 'Aggressive systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aggressive systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Aggressive systemic mastocytosis' SubClassOf 'part_of' some 'Systemic mastocytosis' - 'Aggressive systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Aggressive systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Aggressive systemic mastocytosis' SubClassOf 'disease' + 'Aggressive systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aggressive systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Aggressive systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_404499 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122296 Label: gelsolin - 'gelsolin' SubClassOf 'gene' - 'gelsolin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloidosis, Finnish type' + 'gelsolin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33"^^http://www.w3.org/2001/XMLSchema#string + 'gelsolin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloidosis, Finnish type' + 'gelsolin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122298 Label: glutathione reductase - 'glutathione reductase' SubClassOf 'gene' - 'glutathione reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glutathione reductase deficiency' + 'glutathione reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glutathione reductase deficiency' + 'glutathione reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutathione reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_352718 Label: Progressive retinal dystrophy due to retinol transport defect - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_122291 Label: glutamate receptor, metabotropic 6 - 'glutamate receptor, metabotropic 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'glutamate receptor, metabotropic 6' SubClassOf 'gene' + 'glutamate receptor, metabotropic 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'glutamate receptor, metabotropic 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, metabotropic 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98853 Label: Autosomal dominant Emery-Dreifuss muscular dystrophy - 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' - 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254395 Label: Actinic lichen planus - 'Actinic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Actinic lichen planus' SubClassOf 'disease' - 'Actinic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Actinic lichen planus' SubClassOf 'has_prevalence' some 'Unknown' + 'Actinic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Actinic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Actinic lichen planus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98852 Label: Desquamative interstitial pneumonia - 'Desquamative interstitial pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Desquamative interstitial pneumonia' SubClassOf 'disease' + 'Desquamative interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Desquamative interstitial pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98851 Label: Mast cell leukemia - 'Mast cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mast cell leukemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mast cell leukemia' SubClassOf 'group of disorders' - 'Mast cell leukemia' SubClassOf 'has_inheritance' some 'sporadic' + 'Mast cell leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mast cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mast cell leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mast cell leukemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138047 Label: Pierre Robin syndrome associated with a chromosomal anomaly - 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138044 Label: Syndromic Pierre Robin syndrome - 'Syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228165 Label: Bal� concentric sclerosis - 'Bal� concentric sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Bal� concentric sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bal� concentric sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Bal� concentric sclerosis' SubClassOf 'part_of' some 'Multiple sclerosis variant' - 'Bal� concentric sclerosis' SubClassOf 'disease' + 'Bal� concentric sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Bal� concentric sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Bal� concentric sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Bal� concentric sclerosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228169 Label: Autosomal dominant striatal neurodegeneration - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant striatal neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_138041 Label: Pierre Robin syndrome associated with collagen disease - 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157719 Label: Juvenile or adult CACH syndrome - 'Juvenile or adult CACH syndrome' SubClassOf 'clinical subtype' - 'Juvenile or adult CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Juvenile or adult CACH syndrome' SubClassOf 'clinical subtype' + 'Juvenile or adult CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157716 Label: Late infantile CACH syndrome - 'Late infantile CACH syndrome' SubClassOf 'clinical subtype' - 'Late infantile CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Late infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' + 'Late infantile CACH syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98846 Label: Lymphocyte-depleted classical Hodgkin lymphoma - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98844 Label: Mixed cellularity classical Hodgkin lymphoma - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98845 Label: Lymphocyte-rich classical Hodgkin lymphoma - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' Class: http://www.orpha.net/ORDO/Orphanet_98848 Label: Indolent systemic mastocytosis - 'Indolent systemic mastocytosis' SubClassOf 'disease' - 'Indolent systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Indolent systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Indolent systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Indolent systemic mastocytosis' SubClassOf 'part_of' some 'Systemic mastocytosis' + 'Indolent systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Indolent systemic mastocytosis' SubClassOf 'disease' + 'Indolent systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Indolent systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Indolent systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404493 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98849 Label: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'part_of' some 'Systemic mastocytosis' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'disease' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'disease' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_352723 Label: Attenuated Ch�diak-Higashi syndrome - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'disease' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with peripheral neuropathy' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_325690 Label: Genetic disorder of sex development - 'Genetic disorder of sex development' SubClassOf 'group of disorders' + 'Genetic disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183616 Label: Genetic neuro-ophthalmological disease - 'Genetic neuro-ophthalmological disease' SubClassOf 'group of disorders' + 'Genetic neuro-ophthalmological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98820 Label: Familial focal epilepsy with variable foci - 'Familial focal epilepsy with variable foci' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Familial focal epilepsy with variable foci' SubClassOf 'disease' - 'Familial focal epilepsy with variable foci' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial focal epilepsy with variable foci' SubClassOf 'disease' + 'Familial focal epilepsy with variable foci' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Familial focal epilepsy with variable foci' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159521 Label: major facilitator superfamily domain containing 8 - 'major facilitator superfamily domain containing 8' SubClassOf 'gene' - 'major facilitator superfamily domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN7 disease' + 'major facilitator superfamily domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN7 disease' + 'major facilitator superfamily domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28.2"^^http://www.w3.org/2001/XMLSchema#string + 'major facilitator superfamily domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122263 Label: G protein-coupled receptor 143 - 'G protein-coupled receptor 143' SubClassOf 'gene' - 'G protein-coupled receptor 143' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive ocular albinism' + 'G protein-coupled receptor 143' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.3"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor 143' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 143' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive ocular albinism' Class: http://www.orpha.net/ORDO/Orphanet_228174 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2N - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_122266 Label: G protein-coupled receptor 56 - 'G protein-coupled receptor 56' SubClassOf 'gene' - 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral frontoparietal polymicrogyria' - 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral frontoparietal polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159526 Label: dihydrofolate reductase - 'dihydrofolate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional megaloblastic anemia with severe neurologic disease' - 'dihydrofolate reductase' SubClassOf 'gene' + 'dihydrofolate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional megaloblastic anemia with severe neurologic disease' + 'dihydrofolate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'dihydrofolate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159528 Label: ATP-binding cassette, sub-family A (ABC1), member 1 - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'gene' - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tangier disease' + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tangier disease' Class: http://www.orpha.net/ORDO/Orphanet_183619 Label: Genetic eye tumor - 'Genetic eye tumor' SubClassOf 'group of disorders' + 'Genetic eye tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281472 Label: v-akt murine thymoma viral oncogene homolog 1 - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Proteus syndrome' - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'gene' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Proteus syndrome' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cowden syndrome' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98819 Label: Familial temporal epilepsy - 'Familial temporal epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Familial temporal epilepsy' SubClassOf 'disease' + 'Familial temporal epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Familial temporal epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_326747 Label: splicing factor proline/glutamine-rich - 'splicing factor proline/glutamine-rich' SubClassOf 'gene' - 'splicing factor proline/glutamine-rich' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'splicing factor proline/glutamine-rich' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'splicing factor proline/glutamine-rich' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'splicing factor proline/glutamine-rich' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_228179 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2M - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98815 Label: Benign childhood occipital epilepsy, Panayiotopoulos type - 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'clinical subtype' - 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'part_of' some 'Benign occipital epilepsy' + 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98816 Label: Benign childhood occipital epilepsy, Gastaut type - 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'part_of' some 'Benign occipital epilepsy' - 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_326742 Label: clathrin, heavy chain (Hc) - 'clathrin, heavy chain (Hc)' SubClassOf 'gene' - 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'clathrin, heavy chain (Hc)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'clathrin, heavy chain (Hc)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325697 Label: Genetic 46,XX disorder of sex development - 'Genetic 46,XX disorder of sex development' SubClassOf 'group of disorders' + 'Genetic 46,XX disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98818 Label: Landau-Kleffner syndrome - 'Landau-Kleffner syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Landau-Kleffner syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Landau-Kleffner syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Landau-Kleffner syndrome' SubClassOf 'disease' - 'Landau-Kleffner syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Landau-Kleffner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Landau-Kleffner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Landau-Kleffner syndrome' SubClassOf 'disease' + 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Landau-Kleffner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98811 Label: Paroxysmal exertion-induced dyskinesia - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'disease' + 'Paroxysmal exertion-induced dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'disease' + 'Paroxysmal exertion-induced dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_98813 Label: Hypohidrotic ectodermal dysplasia with immunodeficiency - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'clinical subtype' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'part_of' some 'Hypohidrotic ectodermal dysplasia' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypohidrotic ectodermal dysplasia' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'clinical subtype' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98832 Label: Minimally differentiated acute myeloblastic leukemia - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'disease' + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'disease' + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_98831 Label: Acute myeloid leukemia with 11q23 abnormalities - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'disease' + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122270 Label: G protein-coupled receptor 98 - 'G protein-coupled receptor 98' SubClassOf 'gene' - 'G protein-coupled receptor 98' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'G protein-coupled receptor 98' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 98' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor 98' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_397692 Label: Hereditary aplastic anemia - 'Hereditary aplastic anemia' SubClassOf 'disease' - 'Hereditary aplastic anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' + 'Hereditary aplastic anemia' SubClassOf 'disease' + 'Hereditary aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_165711 Label: Rare abdominal surgical disease - 'Rare abdominal surgical disease' SubClassOf 'group of disorders' + 'Rare abdominal surgical disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183601 Label: Rare genetic refraction anomaly - 'Rare genetic refraction anomaly' SubClassOf 'group of disorders' + 'Rare genetic refraction anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352737 Label: Temperature-sensitive oculocutaneous albinism type 1 - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_159514 Label: family with sequence similarity 58, member A - 'family with sequence similarity 58, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly - telecanthus - anogenital and renal malformations' - 'family with sequence similarity 58, member A' SubClassOf 'gene' + 'family with sequence similarity 58, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'family with sequence similarity 58, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly - telecanthus - anogenital and renal malformations' + 'family with sequence similarity 58, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_138066 Label: Pierre Robin syndrome associated with miscellaneous anomalies - 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281457 Label: interleukin 36 receptor antagonist - 'interleukin 36 receptor antagonist' SubClassOf 'gene' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pustular psoriasis' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'DITRA' + 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Generalized pustular psoriasis' Class: http://www.orpha.net/ORDO/Orphanet_122278 Label: glyoxylate reductase/hydroxypyruvate reductase - 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'gene' - 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 2' + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q12"^^http://www.w3.org/2001/XMLSchema#string + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 2' Class: http://www.orpha.net/ORDO/Orphanet_392330 Label: armadillo repeat containing 5 - 'armadillo repeat containing 5' SubClassOf 'gene' - 'armadillo repeat containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'ACTH-independent macronodular adrenal hyperplasia' + 'armadillo repeat containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11"^^http://www.w3.org/2001/XMLSchema#string + 'armadillo repeat containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'armadillo repeat containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'ACTH-independent macronodular adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_228184 Label: Heart-hand syndrome - 'Heart-hand syndrome' SubClassOf 'group of disorders' + 'Heart-hand syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183607 Label: Genetic lens and zonula anomaly - 'Genetic lens and zonula anomaly' SubClassOf 'group of disorders' + 'Genetic lens and zonula anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397695 Label: 3q27.3 microdeletion syndrome - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '3q27.3 microdeletion syndrome' SubClassOf 'disease' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf 'disease' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_159517 Label: transmembrane protein 43 - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'transmembrane protein 43' SubClassOf 'gene' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_217124 Label: peptidylprolyl isomerase B (cyclophilin B) - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'gene' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' Class: http://www.orpha.net/ORDO/Orphanet_138063 Label: Syndrome associated with Pierre Robin syndrome - 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98829 Label: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'disease' - 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'disease' + 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98826 Label: Refractory anemia - 'Refractory anemia' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Refractory anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia' SubClassOf 'disease' + 'Refractory anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory cytopenia with multilineage dysplasia' + 'Refractory anemia' SubClassOf 'disease' + 'Refractory anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98827 Label: Unclassified myelodysplastic syndrome - 'Unclassified myelodysplastic syndrome' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Unclassified myelodysplastic syndrome' SubClassOf 'disease' + 'Unclassified myelodysplastic syndrome' SubClassOf 'disease' + 'Unclassified myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_352745 Label: Oculocutaneous albinism type 7 - 'Oculocutaneous albinism type 7' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 7' SubClassOf 'disease' - 'Oculocutaneous albinism type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Oculocutaneous albinism type 7' SubClassOf 'disease' + 'Oculocutaneous albinism type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_165704 Label: Non-syndromic urogenital tract malformation - 'Non-syndromic urogenital tract malformation' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98824 Label: Atypical chronic myeloid leukemia - 'Atypical chronic myeloid leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Atypical chronic myeloid leukemia' SubClassOf 'disease' - 'Atypical chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Atypical chronic myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Atypical chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atypical chronic myeloid leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_165707 Label: Syndromic urogenital tract malformation - 'Syndromic urogenital tract malformation' SubClassOf 'group of disorders' + 'Syndromic urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98825 Label: Unclassified myelodysplastic/myeloproliferative disease - 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'disease' + 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_326751 Label: non-POU domain containing, octamer-binding - 'non-POU domain containing, octamer-binding' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'non-POU domain containing, octamer-binding' SubClassOf 'gene' + 'non-POU domain containing, octamer-binding' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'non-POU domain containing, octamer-binding' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string + 'non-POU domain containing, octamer-binding' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352740 Label: Ocular albinism with congenital sensorineural deafness - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'part_of' some 'Ocular albinism' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ocular albinism with congenital sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98823 Label: Chronic myelomonocytic leukemia - 'Chronic myelomonocytic leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Chronic myelomonocytic leukemia' SubClassOf 'disease' - 'Chronic myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Chronic myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Chronic myelomonocytic leukemia' SubClassOf 'disease' + 'Chronic myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_397685 Label: Familial hyperprolactinemia - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare genetic hypothalamic or pituitary disease' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Familial hyperprolactinemia' SubClassOf 'disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf 'disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_1302 Label: Cryptogenic organizing pneumonia - 'Cryptogenic organizing pneumonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptogenic organizing pneumonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cryptogenic organizing pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Cryptogenic organizing pneumonia' SubClassOf 'disease' - 'Cryptogenic organizing pneumonia' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptogenic organizing pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cryptogenic organizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_177904 Label: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254367 Label: Rare lichen planus - 'Rare lichen planus' SubClassOf 'group of disorders' + 'Rare lichen planus' SubClassOf 'group of disorders' + 'Rare lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1300 Label: Autosomal dominant popliteal pterygium syndrome - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'malformation syndrome' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Popliteal pterygium syndrome' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Popliteal pterygium syndrome' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'malformation syndrome' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_177901 Label: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_122248 Label: glypican 3 - 'glypican 3' SubClassOf 'gene' - 'glypican 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome' + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Simpson-Golabi-Behmel syndrome' + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363504 Label: Testicular germ cell tumor - 'Testicular germ cell tumor' SubClassOf 'group of disorders' + 'Testicular germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1306 Label: Buschke-Ollendorff syndrome - 'Buschke-Ollendorff syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Buschke-Ollendorff syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Buschke-Ollendorff syndrome' SubClassOf 'malformation syndrome' - 'Buschke-Ollendorff syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Osteopetrosis' + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Buschke-Ollendorff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Buschke-Ollendorff syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Buschke-Ollendorff syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_177907 Label: Prader-Willi syndrome due to translocation - 'Prader-Willi syndrome due to translocation' SubClassOf 'etiological subtype' - 'Prader-Willi syndrome due to translocation' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to translocation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to translocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1305 Label: Feingold syndrome - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic gastroduodenal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Feingold syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Feingold syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Feingold syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Feingold syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Feingold syndrome' SubClassOf 'malformation syndrome' - 'Feingold syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic gastroduodenal malformation' + 'Feingold syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Feingold syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Feingold syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Feingold syndrome' SubClassOf 'malformation syndrome' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_320542 Label: adaptor-related protein complex 2, sigma 1 subunit - 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 3' - 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 3' + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_292448 Label: WAS/WASL interacting protein family, member 1 - 'WAS/WASL interacting protein family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' - 'WAS/WASL interacting protein family, member 1' SubClassOf 'gene' + 'WAS/WASL interacting protein family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WAS/WASL interacting protein family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'WAS/WASL interacting protein family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1304 Label: Brucellosis - 'Brucellosis' SubClassOf 'disease' - 'Brucellosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Brucellosis' SubClassOf 'disease' + 'Brucellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_2399 Label: Nasopalpebral lipoma - coloboma - telecanthus - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'malformation syndrome' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'malformation syndrome' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159547 Label: UbiA prenyltransferase domain containing 1 - 'UbiA prenyltransferase domain containing 1' SubClassOf 'gene' - 'UbiA prenyltransferase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schnyder corneal dystrophy' + 'UbiA prenyltransferase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'UbiA prenyltransferase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schnyder corneal dystrophy' + 'UbiA prenyltransferase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156224 Label: Paralytic facial malformation - 'Paralytic facial malformation' SubClassOf 'group of disorders' + 'Paralytic facial malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1303 Label: Bronchiolitis obliterans with obstructive pulmonary disease - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'disease' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122244 Label: glycoprotein IX (platelet) - 'glycoprotein IX (platelet)' SubClassOf 'gene' - 'glycoprotein IX (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein IX (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein IX (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein IX (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98880 Label: Familial afibrinogenemia - 'Familial afibrinogenemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Familial afibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial afibrinogenemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial afibrinogenemia' SubClassOf 'clinical subtype' + 'Familial afibrinogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial afibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' + 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial afibrinogenemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98881 Label: Familial dysfibrinogenemia - 'Familial dysfibrinogenemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial dysfibrinogenemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial dysfibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial dysfibrinogenemia' SubClassOf 'clinical subtype' - 'Familial dysfibrinogenemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial dysfibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial dysfibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' + 'Familial dysfibrinogenemia' SubClassOf 'clinical subtype' + 'Familial dysfibrinogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_183634 Label: Rare genetic parathyroid disease and phosphocalcic metabolism disorder - 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'group of disorders' + 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2398 Label: Familial symmetric lipomatosis - 'Familial symmetric lipomatosis' SubClassOf 'disease' - 'Familial symmetric lipomatosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial symmetric lipomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial symmetric lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Familial symmetric lipomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial symmetric lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Familial symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Familial symmetric lipomatosis' SubClassOf 'disease' + 'Familial symmetric lipomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial symmetric lipomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_122241 Label: glycoprotein Ib (platelet), beta polypeptide - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'gene' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21-q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_2396 Label: Encephalocraniocutaneous lipomatosis - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'disease' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Encephalocraniocutaneous lipomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'disease' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_98885 Label: Bleeding diathesis due to glycoprotein VI deficiency - 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'part_of' some 'Bleeding diathesis due to a collagen receptor defect' - 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'etiological subtype' + 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_217598 Label: Non-familial hypertrophic cardiomyopathy - 'Non-familial hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2394 Label: Pyruvate dehydrogenase E3 deficiency - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_98886 Label: Bleeding diathesis due to integrin alpha2-beta1 deficiency - 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'etiological subtype' - 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'part_of' some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_183637 Label: Rare genetic adrenal disease - 'Rare genetic adrenal disease' SubClassOf 'group of disorders' + 'Rare genetic adrenal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217595 Label: Syndrome associated with hypertrophic cardiomyopathy - 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2391 Label: Congenitally short costocoracoid ligament - 'Congenitally short costocoracoid ligament' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenitally short costocoracoid ligament' SubClassOf 'malformation syndrome' - 'Congenitally short costocoracoid ligament' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenitally short costocoracoid ligament' SubClassOf 'part_of' some 'Thoracic malformation' + 'Congenitally short costocoracoid ligament' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally short costocoracoid ligament' SubClassOf 'malformation syndrome' + 'Congenitally short costocoracoid ligament' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenitally short costocoracoid ligament' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254361 Label: Autosomal recessive limb-girdle muscular dystrophy type 2Q - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'part_of' some 'Qualitative or quantitative defects of plectin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of plectin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98878 Label: Hemophilia A - 'Hemophilia A' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hemophilia A' SubClassOf 'part_of' some 'Hemophilia' - 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemophilia A' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemophilia A' SubClassOf 'disease' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'disease' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410164) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410230) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410199) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410141) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410106) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410026) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410011) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410190) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410045) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410081) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410138) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410162) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410104) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410120) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410101) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410200) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410114) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410040) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410057) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410015) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410161) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410151) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409996) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410136) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410171) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410048) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410054) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410019) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410166) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410153) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.025"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410122) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410125) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410146) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410089) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409995) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410115) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410231) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410008) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410227) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410187) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410055) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410165) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410119) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410212) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410096) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410228) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410013) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410059) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410004) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410238) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410094) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2390 Label: Lichstenstein syndrome - 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lichstenstein syndrome' SubClassOf 'disease' - 'Lichstenstein syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lichstenstein syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Lichstenstein syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lichstenstein syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lichstenstein syndrome' SubClassOf 'disease' + 'Lichstenstein syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lichstenstein syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_228119 Label: Fusariosis - 'Fusariosis' SubClassOf 'disease' - 'Fusariosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Fusariosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Fusariosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Fusariosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Fusariosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fusariosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fusariosis' SubClassOf 'disease' + 'Fusariosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_98879 Label: Hemophilia B - 'Hemophilia B' SubClassOf 'part_of' some 'Hemophilia' - 'Hemophilia B' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemophilia B' SubClassOf 'disease' - 'Hemophilia B' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hemophilia B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia' + 'Hemophilia B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'disease' + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217591 Label: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376593 Label: paired box 1 - 'paired box 1' SubClassOf 'gene' - 'paired box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'paired box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'paired box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_376599 Label: aarF domain containing kinase 4 - 'aarF domain containing kinase 4' SubClassOf 'gene' - 'aarF domain containing kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_228113 Label: Anal fistula - 'Anal fistula' SubClassOf 'disease' - 'Anal fistula' SubClassOf 'part_of' some 'Isolated anorectal malformation' - 'Anal fistula' SubClassOf 'has_prevalence' some '1-5 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_228116 Label: Hughes-Stovin syndrome - 'Hughes-Stovin syndrome' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Hughes-Stovin syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hughes-Stovin syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hughes-Stovin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Hughes-Stovin syndrome' SubClassOf 'disease' + 'Hughes-Stovin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hughes-Stovin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Hughes-Stovin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hughes-Stovin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hughes-Stovin syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_177910 Label: Prader-Willi syndrome due to imprinting mutation - 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'etiological subtype' - 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to imprinting mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157769 Label: Situs ambiguus - 'Situs ambiguus' SubClassOf 'morphological anomaly' - 'Situs ambiguus' SubClassOf 'part_of' some 'Heterotaxia' - 'Situs ambiguus' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Situs ambiguus' SubClassOf 'morphological anomaly' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_1310 Label: Caffey disease - 'Caffey disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Caffey disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Caffey disease' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' - 'Caffey disease' SubClassOf 'malformation syndrome' - 'Caffey disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Caffey disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Caffey disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Caffey disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Caffey disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Caffey disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122259 Label: glucose-6-phosphate isomerase - 'glucose-6-phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glucophosphate isomerase deficiency' - 'glucose-6-phosphate isomerase' SubClassOf 'gene' + 'glucose-6-phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucose-6-phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glucophosphate isomerase deficiency' + 'glucose-6-phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159539 Label: coiled-coil and C2 domain containing 2A - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'gene' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'coiled-coil and C2 domain containing 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.33"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil and C2 domain containing 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122256 Label: gephyrin - 'gephyrin' SubClassOf 'gene' - 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' - 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' + 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'gephyrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'gephyrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98890 Label: Early-onset X-linked optic atrophy - 'Early-onset X-linked optic atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Early-onset X-linked optic atrophy' SubClassOf 'disease' - 'Early-onset X-linked optic atrophy' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Early-onset X-linked optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Early-onset X-linked optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset X-linked optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Early-onset X-linked optic atrophy' SubClassOf 'disease' + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1314 Label: Symmetrical thalamic calcifications - 'Symmetrical thalamic calcifications' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Symmetrical thalamic calcifications' SubClassOf 'has_inheritance' some 'sporadic' - 'Symmetrical thalamic calcifications' SubClassOf 'disease' - 'Symmetrical thalamic calcifications' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Symmetrical thalamic calcifications' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Symmetrical thalamic calcifications' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Symmetrical thalamic calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Symmetrical thalamic calcifications' SubClassOf 'disease' + 'Symmetrical thalamic calcifications' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Symmetrical thalamic calcifications' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_156237 Label: Syndrome or malformation associated with head and neck malformations - 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'group of disorders' + 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98893 Label: Congenital muscular dystrophy type 1B - 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy type 1B' SubClassOf 'disease' - 'Congenital muscular dystrophy type 1B' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy type 1B' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy type 1B' SubClassOf 'disease' + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159533 Label: delta-like 1 homolog (Drosophila) - 'delta-like 1 homolog (Drosophila)' SubClassOf 'gene' - 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' - 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_156230 Label: Facial arteriovenous malformation - 'Facial arteriovenous malformation' SubClassOf 'group of disorders' + 'Facial arteriovenous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183622 Label: Genetic respiratory malformation - 'Genetic respiratory malformation' SubClassOf 'group of disorders' + 'Genetic respiratory malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98892 Label: Periventricular nodular heterotopia - 'Periventricular nodular heterotopia' SubClassOf 'has_prevalence' some 'Unknown' - 'Periventricular nodular heterotopia' SubClassOf 'part_of' some 'Nodular neuronal heterotopia' - 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Periventricular nodular heterotopia' SubClassOf 'clinical subtype' + 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Periventricular nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nodular neuronal heterotopia' + 'Periventricular nodular heterotopia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98897 Label: Oculopharyngodistal myopathy - 'Oculopharyngodistal myopathy' SubClassOf 'disease' - 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Distal myopathy' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Ptosis' - 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Oculopharyngodistal myopathy' SubClassOf 'disease' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal myopathy' + 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254351 Label: Distal 7q11.23 microdeletion syndrome - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 7' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_183625 Label: Rare genetic diabetes mellitus - 'Rare genetic diabetes mellitus' SubClassOf 'group of disorders' + 'Rare genetic diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98895 Label: Becker muscular dystrophy - 'Becker muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Becker muscular dystrophy' SubClassOf 'disease' - 'Becker muscular dystrophy' SubClassOf 'part_of' some 'Duchenne and Becker muscular dystrophy' - 'Becker muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Becker muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Becker muscular dystrophy' SubClassOf 'disease' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duchenne and Becker muscular dystrophy' + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_183628 Label: Rare genetic hypothalamic or pituitary disease - 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'group of disorders' + 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98896 Label: Duchenne muscular dystrophy - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Duchenne muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Myopathy with eye involvement' - 'Duchenne muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Duchenne muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Duchenne muscular dystrophy' SubClassOf 'disease' - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Duchenne and Becker muscular dystrophy' + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Duchenne muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myopathy with eye involvement' + 'Duchenne muscular dystrophy' SubClassOf 'disease' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duchenne and Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_217587 Label: Mitochondrial disease with hypertrophic cardiomyopathy - 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217581 Label: Lysosomal disease with hypertrophic cardiomyopathy - 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98889 Label: Bilateral perisylvian polymicrogyria - 'Bilateral perisylvian polymicrogyria' SubClassOf 'clinical subtype' - 'Bilateral perisylvian polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' + 'Bilateral perisylvian polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral perisylvian polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_98888 Label: X-linked complex spastic paraplegia - 'X-linked complex spastic paraplegia' SubClassOf 'group of disorders' + 'X-linked complex spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183631 Label: Rare genetic thyroid disease - 'Rare genetic thyroid disease' SubClassOf 'group of disorders' + 'Rare genetic thyroid disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281487 Label: heparan sulfate 6-O-sulfotransferase 1 - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'gene' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1307 Label: Distal limb deficiencies - micrognathia syndrome - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'malformation syndrome' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 10' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 10' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'malformation syndrome' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_392307 Label: atlastin GTPase 3 - 'atlastin GTPase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' - 'atlastin GTPase 3' SubClassOf 'gene' + 'atlastin GTPase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'atlastin GTPase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'atlastin GTPase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1308 Label: C syndrome - 'C syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'C syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'C syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'C syndrome' SubClassOf 'malformation syndrome' - 'C syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'C syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'C syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'C syndrome' SubClassOf 'malformation syndrome' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'C syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_363523 Label: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'disease' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'disease' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1309 Label: Medullary sponge kidney - 'Medullary sponge kidney' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Medullary sponge kidney' SubClassOf 'morphological anomaly' - 'Medullary sponge kidney' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_228123 Label: Coccidioidomycosis - 'Coccidioidomycosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Coccidioidomycosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Coccidioidomycosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Coccidioidomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Coccidioidomycosis' SubClassOf 'disease' + 'Coccidioidomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Coccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Coccidioidomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Coccidioidomycosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281482 Label: additional sex combs like transcriptional regulator 1 - 'additional sex combs like transcriptional regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome' - 'additional sex combs like transcriptional regulator 1' SubClassOf 'gene' + 'additional sex combs like transcriptional regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome' + 'additional sex combs like transcriptional regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'additional sex combs like transcriptional regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1328 Label: Camurati-Engelmann disease - 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Camurati-Engelmann disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Camurati-Engelmann disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camurati-Engelmann disease' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Camurati-Engelmann disease' SubClassOf 'malformation syndrome' + 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Camurati-Engelmann disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Camurati-Engelmann disease' SubClassOf 'malformation syndrome' + 'Camurati-Engelmann disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_177929 Label: Symptomatic form of hemophilia B in female carriers - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'part_of' some 'Hemophilia B' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'clinical subtype' + 'Symptomatic form of hemophilia B in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia B' + 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1327 Label: Camptodactyly syndrome, Guadalajara type 1 - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'malformation syndrome' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'malformation syndrome' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1326 Label: Camptodactyly syndrome, Guadalajara type 2 - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'malformation syndrome' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156246 Label: Nose and cavum anomaly - 'Nose and cavum anomaly' SubClassOf 'group of disorders' + 'Nose and cavum anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1325 Label: Camptodactyly - taurinuria - 'Camptodactyly - taurinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly - taurinuria' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' - 'Camptodactyly - taurinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly - taurinuria' SubClassOf 'malformation syndrome' - 'Camptodactyly - taurinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptodactyly - taurinuria' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptodactyly - taurinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptodactyly - taurinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly - taurinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_177926 Label: Symptomatic form of hemophilia A in female carriers - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'clinical subtype' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'part_of' some 'Hemophilia A' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'clinical subtype' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia A' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_156249 Label: Larynx anomaly - 'Larynx anomaly' SubClassOf 'group of disorders' + 'Larynx anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122226 Label: gonadotropin-releasing hormone receptor - 'gonadotropin-releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'gonadotropin-releasing hormone receptor' SubClassOf 'gene' + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1320 Label: Camptocormia - 'Camptocormia' SubClassOf 'part_of' some 'Acquired skeletal muscle disease' - 'Camptocormia' SubClassOf 'has_prevalence' some 'Unknown' - 'Camptocormia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Camptocormia' SubClassOf 'morphological anomaly' + 'Camptocormia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Camptocormia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Camptocormia' SubClassOf 'morphological anomaly' + 'Camptocormia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_98863 Label: X-linked Emery-Dreifuss muscular dystrophy - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of emerin' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of emerin' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_352709 Label: CLN13 disease - 'CLN13 disease' SubClassOf 'etiological subtype' - 'CLN13 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN13 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN13 disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLN13 disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'CLN13 disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLN13 disease' SubClassOf 'etiological subtype' + 'CLN13 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN13 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN13 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_159562 Label: NK2 homeobox 6 - 'NK2 homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' - 'NK2 homeobox 6' SubClassOf 'gene' + 'NK2 homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Truncus arteriosus' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'NK2 homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'NK2 homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156243 Label: Pinnae and external auditory canal anomaly - 'Pinnae and external auditory canal anomaly' SubClassOf 'group of disorders' + 'Pinnae and external auditory canal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122221 Label: N-acetylglucosamine-1-phosphate transferase, gamma subunit - 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 3' - 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf 'gene' + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_320561 Label: Rho guanine nucleotide exchange factor (GEF) 10 - 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'gene' - 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant slowed nerve conduction velocity' + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23"^^http://www.w3.org/2001/XMLSchema#string + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant slowed nerve conduction velocity' + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159566 Label: erythrocyte membrane protein band 4.2 - 'erythrocyte membrane protein band 4.2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'erythrocyte membrane protein band 4.2' SubClassOf 'gene' + 'erythrocyte membrane protein band 4.2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'erythrocyte membrane protein band 4.2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15-q21"^^http://www.w3.org/2001/XMLSchema#string + 'erythrocyte membrane protein band 4.2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_248095 Label: Primary hypertrophic osteoarthropathy - 'Primary hypertrophic osteoarthropathy' SubClassOf 'group of disorders' + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary hypertrophic osteoarthropathy' SubClassOf 'group of disorders' + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398677 Label: solute carrier family 7, member 2-intron1 (long non-coding RNA) - 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAVINE syndrome' - 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'gene' + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAVINE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183654 Label: Rare genetic coagulation disorder - 'Rare genetic coagulation disorder' SubClassOf 'group of disorders' + 'Rare genetic coagulation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352712 Label: Facial dysmorphism - immunodeficiency - livedo - short stature - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'disease' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'disease' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' Class: http://www.orpha.net/ORDO/Orphanet_183663 Label: Hyper-IgM syndrome with susceptibility to opportunistic infections - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_376571 Label: aryl-hydrocarbon receptor nuclear translocator 2 - 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf 'gene' - 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98856 Label: Charcot-Marie-Tooth disease type 2B1 - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_prevalence' some 'Unknown' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98855 Label: Autosomal recessive Emery-Dreifuss muscular dystrophy - 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' - 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_183660 Label: Severe combined immunodeficiency - 'Severe combined immunodeficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency' SubClassOf 'group of disorders' - 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410045) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Severe combined immunodeficiency' SubClassOf 'group of disorders' + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_303004 Label: leucine rich repeat (in FLII) interacting protein 2 - 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'gene' - 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'Part of a fusion gene in' some 'Hereditary nonpolyposis colon cancer' + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'Part of a fusion gene in' some 'Hereditary nonpolyposis colon cancer' + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_326706 Label: transcription factor EB - 'transcription factor EB' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'transcription factor EB' SubClassOf 'gene' + 'transcription factor EB' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'transcription factor EB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor EB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_45360 Label: M�ni�re disease - 'M�ni�re disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'M�ni�re disease' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'M�ni�re disease' SubClassOf 'disease' - 'M�ni�re disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'M�ni�re disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'M�ni�re disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'M�ni�re disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'M�ni�re disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'M�ni�re disease' SubClassOf 'disease' + 'M�ni�re disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_376575 Label: K(lysine) acetyltransferase 6A - 'K(lysine) acetyltransferase 6A' SubClassOf 'gene' - 'K(lysine) acetyltransferase 6A' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'K(lysine) acetyltransferase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'K(lysine) acetyltransferase 6A' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'K(lysine) acetyltransferase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1318 Label: Campomelia, Cumming type - 'Campomelia, Cumming type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Campomelia, Cumming type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Campomelia, Cumming type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Campomelia, Cumming type' SubClassOf 'malformation syndrome' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Campomelia, Cumming type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Campomelia, Cumming type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1319 Label: Camptobrachydactyly - 'Camptobrachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptobrachydactyly' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Camptobrachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptobrachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptobrachydactyly' SubClassOf 'malformation syndrome' + 'Camptobrachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Camptobrachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptobrachydactyly' SubClassOf 'malformation syndrome' + 'Camptobrachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptobrachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_157788 Label: Hypospadias - hypertelorism - coloboma and deafness - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'malformation syndrome' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'malformation syndrome' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1336 Label: Hyperkeratosis-hyperpigmentation syndrome - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_228140 Label: Idiopathic ventricular fibrillation, not Brugada type - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'disease' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'disease' + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_159556 Label: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'gene' - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.3-q28"^^http://www.w3.org/2001/XMLSchema#string + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1338 Label: Heart defect-tongue hamartoma-polysyndactyly syndrome - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1333 Label: Familial pancreatic carcinoma - 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Genetic pancreatic disease' - 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic tumor' - 'Familial pancreatic carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Familial pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial pancreatic carcinoma' SubClassOf 'disease' + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pancreatic disease' + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' + 'Familial pancreatic carcinoma' SubClassOf 'disease' + 'Familial pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Familial pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1332 Label: Medullary thyroid carcinoma - 'Medullary thyroid carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Medullary thyroid carcinoma' SubClassOf 'part_of' some 'Thyroid carcinoma' - 'Medullary thyroid carcinoma' SubClassOf 'disease' - 'Medullary thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Medullary thyroid carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' + 'Medullary thyroid carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Medullary thyroid carcinoma' SubClassOf 'disease' + 'Medullary thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122237 Label: glycoprotein Ib (platelet), alpha polypeptide - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'gene' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudo-von Willebrand disease' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudo-von Willebrand disease' Class: http://www.orpha.net/ORDO/Orphanet_1335 Label: Cantrell pentalogy - 'Cantrell pentalogy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cantrell pentalogy' SubClassOf 'malformation syndrome' - 'Cantrell pentalogy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Cantrell pentalogy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf 'malformation syndrome' + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Cantrell pentalogy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cantrell pentalogy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_254379 Label: Linear lichen planus - 'Linear lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Linear lichen planus' SubClassOf 'disease' - 'Linear lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Linear lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Linear lichen planus' SubClassOf 'disease' + 'Linear lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Linear lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1334 Label: Chronic mucocutaneous candidosis - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Chronic mucocutaneous candidosis' SubClassOf 'disease' + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chronic mucocutaneous candidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254373 Label: Rare mucosal lichen planus - 'Rare mucosal lichen planus' SubClassOf 'group of disorders' + 'Rare mucosal lichen planus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159550 Label: thymidine phosphorylase - 'thymidine phosphorylase' SubClassOf 'gene' - 'thymidine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'thymidine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thymidine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'thymidine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98873 Label: Congenital dyserythropoietic anemia type II - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'Congenital dyserythropoietic anemia type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' + 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1331 Label: Familial prostate cancer - 'Familial prostate cancer' SubClassOf 'disease' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Genetic urogenital tumor' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare genetic urogenital disease' - 'Familial prostate cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare urinary tract tumor' + 'Familial prostate cancer' SubClassOf 'disease' + 'Familial prostate cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urinary tract tumor' + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tumor' + 'Familial prostate cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_1330 Label: Partial atrioventricular canal - 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Partial atrioventricular canal' SubClassOf 'morphological anomaly' - 'Partial atrioventricular canal' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Partial atrioventricular canal' SubClassOf 'part_of' some 'Atrioventricular canal defect' + 'Partial atrioventricular canal' SubClassOf 'morphological anomaly' + 'Partial atrioventricular canal' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Partial atrioventricular canal' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrioventricular canal defect' + 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Partial atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_98871 Label: Transient erythroblastopenia of childhood - 'Transient erythroblastopenia of childhood' SubClassOf 'disease' - 'Transient erythroblastopenia of childhood' SubClassOf 'part_of' some 'Red cell aplasia' + 'Transient erythroblastopenia of childhood' SubClassOf 'disease' + 'Transient erythroblastopenia of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Red cell aplasia' Class: http://www.orpha.net/ORDO/Orphanet_156252 Label: Tracheal anomaly - 'Tracheal anomaly' SubClassOf 'group of disorders' + 'Tracheal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122230 Label: glucosamine (N-acetyl)-6-sulfatase - 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'gene' - 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type D' + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14"^^http://www.w3.org/2001/XMLSchema#string + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type D' + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98872 Label: Adult pure red cell aplasia - 'Adult pure red cell aplasia' SubClassOf 'disease' - 'Adult pure red cell aplasia' SubClassOf 'part_of' some 'Red cell aplasia' + 'Adult pure red cell aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Red cell aplasia' + 'Adult pure red cell aplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183643 Label: Genetic polyendocrinopathy - 'Genetic polyendocrinopathy' SubClassOf 'group of disorders' + 'Genetic polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122232 Label: golgin A5 - 'golgin A5' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'golgin A5' SubClassOf 'gene' + 'golgin A5' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'golgin A5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'golgin A5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98870 Label: Congenital dyserythropoietic anemia type III - 'Congenital dyserythropoietic anemia type III' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Congenital dyserythropoietic anemia type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type III' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital dyserythropoietic anemia type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_254370 Label: Rare cutaneous lichen planus - 'Rare cutaneous lichen planus' SubClassOf 'group of disorders' + 'Rare cutaneous lichen planus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183651 Label: Rare constitutional anemia - 'Rare constitutional anemia' SubClassOf 'group of disorders' + 'Rare constitutional anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376561 Label: B-cell receptor-associated protein 31 - 'B-cell receptor-associated protein 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' - 'B-cell receptor-associated protein 31' SubClassOf 'gene' - 'B-cell receptor-associated protein 31' SubClassOf 'Role in the phenotype of' some 'CADDS' + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell receptor-associated protein 31' SubClassOf 'Role in the phenotype of' some 'CADDS' Class: http://www.orpha.net/ORDO/Orphanet_98869 Label: Congenital dyserythropoietic anemia type I - 'Congenital dyserythropoietic anemia type I' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital dyserythropoietic anemia type I' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_98868 Label: Southeast Asian ovalocytosis - 'Southeast Asian ovalocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Southeast Asian ovalocytosis' SubClassOf 'disease' - 'Southeast Asian ovalocytosis' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Southeast Asian ovalocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Southeast Asian ovalocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Southeast Asian ovalocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Southeast Asian ovalocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Southeast Asian ovalocytosis' SubClassOf 'disease' + 'Southeast Asian ovalocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Southeast Asian ovalocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_45358 Label: Congenital fibrosis of extraocular muscles - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'disease' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Ptosis' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'disease' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_376567 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 18 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1329 Label: Complete atrioventricular canal - 'Complete atrioventricular canal' SubClassOf 'morphological anomaly' - 'Complete atrioventricular canal' SubClassOf 'has_inheritance' some 'sporadic' - 'Complete atrioventricular canal' SubClassOf 'has_prevalence' some 'Unknown' - 'Complete atrioventricular canal' SubClassOf 'part_of' some 'Atrioventricular canal defect' - 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Complete atrioventricular canal' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Complete atrioventricular canal' SubClassOf 'morphological anomaly' + 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Complete atrioventricular canal' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrioventricular canal defect' + 'Complete atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_228145 Label: Multiple sclerosis variant - 'Multiple sclerosis variant' SubClassOf 'group of disorders' + 'Multiple sclerosis variant' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_328915 Label: integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) - 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'gene' + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_328918 Label: CD109 molecule - 'CD109 molecule' SubClassOf 'gene' - 'CD109 molecule' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'CD109 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD109 molecule' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'CD109 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363567 Label: Acute encephalopathy with inflammation-mediated status epilepticus - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'group of disorders' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_prevalence' some 'Unknown' + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_321364 Label: transmembrane protein 231 - 'transmembrane protein 231' SubClassOf 'gene' - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_45452 Label: Idiopathic neonatal atrial flutter - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic neonatal atrial flutter' SubClassOf 'disease' - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Idiopathic neonatal atrial flutter' SubClassOf 'part_of' some 'Non-genetic cardiac rhythm disease' - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Idiopathic neonatal atrial flutter' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic neonatal atrial flutter' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic neonatal atrial flutter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-genetic cardiac rhythm disease' + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Idiopathic neonatal atrial flutter' SubClassOf 'disease' + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_160142 Label: complement component (3d/Epstein Barr virus) receptor 2 - 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'gene' + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_45453 Label: Incessant infant ventricular tachycardia - 'Incessant infant ventricular tachycardia' SubClassOf 'part_of' some 'Non-genetic cardiac rhythm disease' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_inheritance' some 'sporadic' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Incessant infant ventricular tachycardia' SubClassOf 'disease' + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Incessant infant ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-genetic cardiac rhythm disease' + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Incessant infant ventricular tachycardia' SubClassOf 'disease' + 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Incessant infant ventricular tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_183554 Label: Genetic respiratory or mediastinal malformation - 'Genetic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Genetic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93686 Label: Multicentric Castleman disease - 'Multicentric Castleman disease' SubClassOf 'clinical subtype' - 'Multicentric Castleman disease' SubClassOf 'part_of' some 'Castleman disease' + 'Multicentric Castleman disease' SubClassOf 'clinical subtype' + 'Multicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_303011 Label: leucine rich repeat and sterile alpha motif containing 1 - 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'gene' - 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' Class: http://www.orpha.net/ORDO/Orphanet_93685 Label: Localized Castleman disease - 'Localized Castleman disease' SubClassOf 'part_of' some 'Castleman disease' - 'Localized Castleman disease' SubClassOf 'clinical subtype' + 'Localized Castleman disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Localized Castleman disease' SubClassOf 'clinical subtype' + 'Localized Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_310868 Label: optic atrophy 2 (obscure) - 'optic atrophy 2 (obscure)' SubClassOf 'gene' - 'optic atrophy 2 (obscure)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset X-linked optic atrophy' + 'optic atrophy 2 (obscure)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'optic atrophy 2 (obscure)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'optic atrophy 2 (obscure)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset X-linked optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_225372 Label: thyroid hormone receptor interactor 11 - 'thyroid hormone receptor interactor 11' SubClassOf 'gene' - 'thyroid hormone receptor interactor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1A' + 'thyroid hormone receptor interactor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid hormone receptor interactor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'thyroid hormone receptor interactor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1A' Class: http://www.orpha.net/ORDO/Orphanet_2482 Label: Melhem-Fahl syndrome - 'Melhem-Fahl syndrome' SubClassOf 'malformation syndrome' - 'Melhem-Fahl syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Melhem-Fahl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Melhem-Fahl syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2481 Label: Neurocutaneous melanocytosis - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Rare nevus' - 'Neurocutaneous melanocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Neurocutaneous melanocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Neurocutaneous melanocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Neurocutaneous melanocytosis' SubClassOf 'disease' + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Neurocutaneous melanocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurocutaneous melanocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Neurocutaneous melanocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neurocutaneous melanocytosis' SubClassOf 'disease' + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183548 Label: Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' + 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2486 Label: Transverse limb deficiency - hemangioma - 'Transverse limb deficiency - hemangioma' SubClassOf 'malformation syndrome' - 'Transverse limb deficiency - hemangioma' SubClassOf 'part_of' some 'Vascular tumor' + 'Transverse limb deficiency - hemangioma' SubClassOf 'malformation syndrome' + 'Transverse limb deficiency - hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_2485 Label: Melorheostosis - 'Melorheostosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Melorheostosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Melorheostosis' SubClassOf 'malformation syndrome' - 'Melorheostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Melorheostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Melorheostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Melorheostosis' SubClassOf 'malformation syndrome' + 'Melorheostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Melorheostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Melorheostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2484 Label: Osteodysplasty, Melnick-Needles type - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Frontootopalatodigital syndrome' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'malformation syndrome' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontootopalatodigital syndrome' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'malformation syndrome' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_159456 Label: mediator complex subunit 13-like - 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'mediator complex subunit 13-like' SubClassOf 'gene' - 'mediator complex subunit 13-like' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' - 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' + 'mediator complex subunit 13-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.22"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'mediator complex subunit 13-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mediator complex subunit 13-like' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' + 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183545 Label: Genetic digestive tract malformation - 'Genetic digestive tract malformation' SubClassOf 'group of disorders' + 'Genetic digestive tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2483 Label: Melkersson-Rosenthal syndrome - 'Melkersson-Rosenthal syndrome' SubClassOf 'part_of' some 'Rare urticaria' - 'Melkersson-Rosenthal syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Melkersson-Rosenthal syndrome' SubClassOf 'malformation syndrome' - 'Melkersson-Rosenthal syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Melkersson-Rosenthal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Melkersson-Rosenthal syndrome' SubClassOf 'malformation syndrome' + 'Melkersson-Rosenthal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_2489 Label: Upper limb defect - eye and ear abnormalities - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'malformation syndrome' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Upper limb defect - eye and ear abnormalities' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2487 Label: Lower limb deficiency - hypospadias - 'Lower limb deficiency - hypospadias' SubClassOf 'malformation syndrome' - 'Lower limb deficiency - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Lower limb deficiency - hypospadias' SubClassOf 'malformation syndrome' + 'Lower limb deficiency - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_321350 Label: MDM2 proto-oncogene, E3 ubiquitin protein ligase - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q14"^^http://www.w3.org/2001/XMLSchema#string + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_363558 Label: New-onset refractory status epilepticus - 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'New-onset refractory status epilepticus' SubClassOf 'disease' - 'New-onset refractory status epilepticus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'New-onset refractory status epilepticus' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'New-onset refractory status epilepticus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' + 'New-onset refractory status epilepticus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'New-onset refractory status epilepticus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225368 Label: keratin 6C - 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' - 'keratin 6C' SubClassOf 'gene' + 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' + 'keratin 6C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 6C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_303024 Label: SPARC related modular calcium binding 2 - 'SPARC related modular calcium binding 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical dentin dysplasia due to SMOC2 deficiency' - 'SPARC related modular calcium binding 2' SubClassOf 'gene' + 'SPARC related modular calcium binding 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical dentin dysplasia due to SMOC2 deficiency' + 'SPARC related modular calcium binding 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'SPARC related modular calcium binding 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303028 Label: glutamate receptor interacting protein 1 - 'glutamate receptor interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' - 'glutamate receptor interacting protein 1' SubClassOf 'gene' + 'glutamate receptor interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'glutamate receptor interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159463 Label: zinc finger protein 469 - 'zinc finger protein 469' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' - 'zinc finger protein 469' SubClassOf 'gene' + 'zinc finger protein 469' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 469' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 469' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2471 Label: McDonough syndrome - 'McDonough syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'McDonough syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'McDonough syndrome' SubClassOf 'malformation syndrome' - 'McDonough syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf 'malformation syndrome' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2470 Label: Matthew-Wood syndrome - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' - 'Matthew-Wood syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Thoracic malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Respiratory malformation' - 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' + 'Matthew-Wood syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2473 Label: McKusick-Kaufman syndrome - 'McKusick-Kaufman syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'McKusick-Kaufman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'McKusick-Kaufman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'McKusick-Kaufman syndrome' SubClassOf 'malformation syndrome' - 'McKusick-Kaufman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'McKusick-Kaufman syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'McKusick-Kaufman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'McKusick-Kaufman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'McKusick-Kaufman syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159467 Label: ZFP90 zinc finger protein - 'ZFP90 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' - 'ZFP90 zinc finger protein' SubClassOf 'gene' + 'ZFP90 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ZFP90 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' + 'ZFP90 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183557 Label: Genetic developmental defect of the eye - 'Genetic developmental defect of the eye' SubClassOf 'group of disorders' + 'Genetic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2475 Label: White forelock with malformations - 'White forelock with malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'White forelock with malformations' SubClassOf 'malformation syndrome' - 'White forelock with malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf 'malformation syndrome' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_217557 Label: Pulmonary interstitial glycogenosis - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary interstitial glycogenosis' SubClassOf 'disease' - 'Pulmonary interstitial glycogenosis' SubClassOf 'part_of' some 'Interstitial lung disease specific to infancy' + 'Pulmonary interstitial glycogenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interstitial lung disease specific to infancy' + 'Pulmonary interstitial glycogenosis' SubClassOf 'disease' + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2477 Label: Megalencephaly - 'Megalencephaly' SubClassOf 'part_of' some 'Cerebral malformation' - 'Megalencephaly' SubClassOf 'malformation syndrome' + 'Megalencephaly' SubClassOf 'malformation syndrome' + 'Megalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2476 Label: Medeira-Dennis-Donnai syndrome - 'Medeira-Dennis-Donnai syndrome' SubClassOf 'malformation syndrome' - 'Medeira-Dennis-Donnai syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Medeira-Dennis-Donnai syndrome' SubClassOf 'malformation syndrome' + 'Medeira-Dennis-Donnai syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363549 Label: Acute encephalopathy with biphasic seizures and late reduced diffusion - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'disease' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'disease' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2479 Label: Megalocornea-intellectual disability syndrome - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Megalocornea-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_178045 Label: Transient congenital hypothyroidism - 'Transient congenital hypothyroidism' SubClassOf 'has_prevalence' some 'Unknown' - 'Transient congenital hypothyroidism' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Transient congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1000.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2478 Label: Megalencephalic leukoencephalopathy with subcortical cysts - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'part_of' some 'Leukodystrophy' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'disease' + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178040 Label: Peripheral precocious puberty - 'Peripheral precocious puberty' SubClassOf 'group of disorders' + 'Peripheral precocious puberty' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160148 Label: Cap polyposis - 'Cap polyposis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cap polyposis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cap polyposis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cap polyposis' SubClassOf 'disease' - 'Cap polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Cap polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cap polyposis' SubClassOf 'disease' + 'Cap polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cap polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Cap polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_33001 Label: Lymphedema - distichiasis - 'Lymphedema - distichiasis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lymphedema - distichiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphedema - distichiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Secondary ectropion' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Lymphedema - distichiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lymphedema - distichiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_397606 Label: Chronic diarrhea with hereditary sensory and autonomic neuropathy - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Inherited prion disease' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'disease' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363540 Label: Leukoencephalopathy with mild cerebellar ataxia and white matter edema - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'disease' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'part_of' some 'Leukodystrophy' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'disease' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_328936 Label: mitochondrially encoded tRNA threonine - 'mitochondrially encoded tRNA threonine' SubClassOf 'gene' - 'mitochondrially encoded tRNA threonine' SubClassOf 'Candidate gene tested in' some 'Lethal infantile mitochondrial myopathy' + 'mitochondrially encoded tRNA threonine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA threonine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA threonine' SubClassOf 'Candidate gene tested in' some 'Lethal infantile mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_160121 Label: complement component 8, gamma polypeptide - 'complement component 8, gamma polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 8, gamma polypeptide' SubClassOf 'gene' + 'complement component 8, gamma polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, gamma polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, gamma polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363543 Label: Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_328932 Label: cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_217560 Label: Neuroendocrine cell hyperplasia of infancy - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'part_of' some 'Interstitial lung disease specific to infancy' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'disease' + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interstitial lung disease specific to infancy' + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183570 Label: Genetic malformation syndrome with short stature - 'Genetic malformation syndrome with short stature' SubClassOf 'group of disorders' + 'Genetic malformation syndrome with short stature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95512 Label: Adenohypophysitis - 'Adenohypophysitis' SubClassOf 'part_of' some 'Primary hypophysitis' - 'Adenohypophysitis' SubClassOf 'disease' + 'Adenohypophysitis' SubClassOf 'disease' + 'Adenohypophysitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_183576 Label: Genetic branchial arch or oral-acral syndrome - 'Genetic branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' + 'Genetic branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95513 Label: Panhypophysitis - 'Panhypophysitis' SubClassOf 'part_of' some 'Primary hypophysitis' - 'Panhypophysitis' SubClassOf 'disease' + 'Panhypophysitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypophysitis' + 'Panhypophysitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183573 Label: Genetic overgrowth/obesity syndrome - 'Genetic overgrowth/obesity syndrome' SubClassOf 'group of disorders' + 'Genetic overgrowth/obesity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217569 Label: Hypertrophic cardiomyopathy - 'Hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159476 Label: colony stimulating factor 3 receptor (granulocyte) - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical chronic myeloid leukemia' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'gene' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chronic neutrophilic leukemia' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neutrophilia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical chronic myeloid leukemia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35-p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chronic neutrophilic leukemia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neutrophilia' Class: http://www.orpha.net/ORDO/Orphanet_217566 Label: Chronic respiratory distress with surfactant metabolism deficiency - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159472 Label: vitamin K epoxide reductase complex, subunit 1 - 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' - 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'gene' + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217563 Label: Neonatal acute respiratory distress with surfactant metabolism deficiency - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' Class: http://www.orpha.net/ORDO/Orphanet_160117 Label: complement component 8, alpha polypeptide - 'complement component 8, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 8, alpha polypeptide' SubClassOf 'gene' + 'complement component 8, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.2"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160119 Label: complement component 8, beta polypeptide - 'complement component 8, beta polypeptide' SubClassOf 'gene' - 'complement component 8, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 8, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.2"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_397612 Label: Macrocephaly-developmental delay syndrome - 'Macrocephaly-developmental delay syndrome' SubClassOf 'malformation syndrome' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf 'malformation syndrome' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_178077 Label: radial spoke head 9 homolog (Chlamydomonas) - 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'gene' + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_397618 Label: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'disease' - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Optic neuropathy' - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_397615 Label: Obesity due to CEP19 deficiency - 'Obesity due to CEP19 deficiency' SubClassOf 'disease' - 'Obesity due to CEP19 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' + 'Obesity due to CEP19 deficiency' SubClassOf 'disease' + 'Obesity due to CEP19 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_363534 Label: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_328924 Label: sodium channel, voltage-gated, type XI, alpha subunit - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 7' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial episodic pain syndrome with predominantly lower limb involvement' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sodium channelopathy-related small fiber neuropathy' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Sodium channelopathy-related small fiber neuropathy' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.2"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hereditary sensory and autonomic neuropathy type 7' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial episodic pain syndrome with predominantly lower limb involvement' Class: http://www.orpha.net/ORDO/Orphanet_95507 Label: Congenital anomaly of hepatic vein - 'Congenital anomaly of hepatic vein' SubClassOf 'morphological anomaly' - 'Congenital anomaly of hepatic vein' SubClassOf 'part_of' some 'Congenital systemic veins anomaly' + 'Congenital anomaly of hepatic vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital systemic veins anomaly' + 'Congenital anomaly of hepatic vein' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_45448 Label: Miyoshi myopathy - 'Miyoshi myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dysferlin' - 'Miyoshi myopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Miyoshi myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' - 'Miyoshi myopathy' SubClassOf 'disease' - 'Miyoshi myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Miyoshi myopathy' SubClassOf 'disease' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dysferlin' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Miyoshi myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_225386 Label: dihydroorotate dehydrogenase (quinone) - 'dihydroorotate dehydrogenase (quinone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial acrofacial dysostosis' - 'dihydroorotate dehydrogenase (quinone)' SubClassOf 'gene' + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Postaxial acrofacial dysostosis' + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95506 Label: Primary hypophysitis - 'Primary hypophysitis' SubClassOf 'group of disorders' + 'Primary hypophysitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary hypophysitis' SubClassOf 'group of disorders' + 'Primary hypophysitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_183580 Label: Genetic malformation syndrome with odontal and/or periodontal component - 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' + 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95505 Label: Pituitary hormone deficiency from meningeal origin - 'Pituitary hormone deficiency from meningeal origin' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency from meningeal origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183583 Label: Genetic head and neck malformation - 'Genetic head and neck malformation' SubClassOf 'group of disorders' + 'Genetic head and neck malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217572 Label: Glycogen storage disease with hypertrophic cardiomyopathy - 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95503 Label: Pituitary hormone deficiency from tumoral origin - 'Pituitary hormone deficiency from tumoral origin' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency from tumoral origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95502 Label: Acquired pituitary hormone deficiency - 'Acquired pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Acquired pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95500 Label: Congenital anomaly of the coronary sinus - 'Congenital anomaly of the coronary sinus' SubClassOf 'group of disorders' + 'Congenital anomaly of the coronary sinus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183586 Label: Genetic glomerular disease - 'Genetic glomerular disease' SubClassOf 'group of disorders' + 'Genetic glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2495 Label: Meningioma - 'Meningioma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Meningioma' SubClassOf 'disease' - 'Meningioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Meningioma' SubClassOf 'part_of' some 'Tumor of the meninges' - 'Meningioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of the meninges' + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Meningioma' SubClassOf 'disease' + 'Meningioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_95510 Label: Atrial appendage anomaly - 'Atrial appendage anomaly' SubClassOf 'group of disorders' + 'Atrial appendage anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159489 Label: cathepsin D - 'cathepsin D' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN10 disease' - 'cathepsin D' SubClassOf 'gene' + 'cathepsin D' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN10 disease' + 'cathepsin D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2494 Label: Menetrier disease - 'Menetrier disease' SubClassOf 'disease' - 'Menetrier disease' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Menetrier disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Menetrier disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Menetrier disease' SubClassOf 'disease' + 'Menetrier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Menetrier disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Menetrier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_2497 Label: Upper limb mesomelic dysplasia - 'Upper limb mesomelic dysplasia' SubClassOf 'malformation syndrome' - 'Upper limb mesomelic dysplasia' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Upper limb mesomelic dysplasia' SubClassOf 'malformation syndrome' + 'Upper limb mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2496 Label: Mesomelia-synostoses syndrome - 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelia-synostoses syndrome' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Mesomelia-synostoses syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mesomelia-synostoses syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - 'Mesomelia-synostoses syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mesomelia-synostoses syndrome' SubClassOf 'malformation syndrome' + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Mesomelia-synostoses syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' + 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelia-synostoses syndrome' SubClassOf 'malformation syndrome' + 'Mesomelia-synostoses syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159484 Label: catenin (cadherin-associated protein), delta 2 - 'catenin (cadherin-associated protein), delta 2' SubClassOf 'Role in the phenotype of' some 'Monosomy 5p' - 'catenin (cadherin-associated protein), delta 2' SubClassOf 'gene' + 'catenin (cadherin-associated protein), delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'catenin (cadherin-associated protein), delta 2' SubClassOf 'Role in the phenotype of' some 'Monosomy 5p' + 'catenin (cadherin-associated protein), delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2491 Label: M�llerian duct anomalies - limb anomalies - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'malformation syndrome' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'M�llerian duct anomalies - limb anomalies' SubClassOf 'malformation syndrome' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_225380 Label: inverted formin, FH2 and WH2 domain containing - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'gene' - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' + 'inverted formin, FH2 and WH2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'inverted formin, FH2 and WH2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' Class: http://www.orpha.net/ORDO/Orphanet_2492 Label: Limb transversal defect - cardiac anomaly - 'Limb transversal defect - cardiac anomaly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Limb transversal defect - cardiac anomaly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Limb transversal defect - cardiac anomaly' SubClassOf 'malformation syndrome' + 'Limb transversal defect - cardiac anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Limb transversal defect - cardiac anomaly' SubClassOf 'malformation syndrome' + 'Limb transversal defect - cardiac anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_160128 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 4 - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'gene' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160126 Label: complement component 9 - 'complement component 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 9' SubClassOf 'gene' + 'complement component 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p12"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2499 Label: Metachondromatosis - 'Metachondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metachondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metachondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Metachondromatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Metachondromatosis' SubClassOf 'malformation syndrome' + 'Metachondromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Metachondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metachondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metachondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Metachondromatosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363528 Label: Intellectual disability-strabismus syndrome - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability-strabismus syndrome' SubClassOf 'disease' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-strabismus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-strabismus syndrome' SubClassOf 'disease' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2498 Label: Syndactyly type 8 - 'Syndactyly type 8' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 8' SubClassOf 'morphological anomaly' - 'Syndactyly type 8' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 8' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Syndactyly type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndactyly type 8' SubClassOf 'morphological anomaly' + 'Syndactyly type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_397623 Label: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' - 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_183598 Label: Rare genetic palpebral, lacrimal system and conjunctival disease - 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' + 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281953 Label: delta-like 1 (Drosophila) - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'gene' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13-q22.33"^^http://www.w3.org/2001/XMLSchema#string + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_183595 Label: Genetic renal tumor - 'Genetic renal tumor' SubClassOf 'group of disorders' + 'Genetic renal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label: Glycerol kinase deficiency, infantile form - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycerol kinase deficiency, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_352763 Label: Scleredema - 'Scleredema' SubClassOf 'has_inheritance' some 'sporadic' - 'Scleredema' SubClassOf 'disease' - 'Scleredema' SubClassOf 'has_prevalence' some 'Unknown' - 'Scleredema' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Scleredema' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Scleredema' SubClassOf 'disease' + 'Scleredema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Scleredema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Scleredema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_356228 Label: serine active site containing 1 - 'serine active site containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEGDEL syndrome' - 'serine active site containing 1' SubClassOf 'gene' + 'serine active site containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine active site containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEGDEL syndrome' + 'serine active site containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183592 Label: Genetic renal tubular disease - 'Genetic renal tubular disease' SubClassOf 'group of disorders' + 'Genetic renal tubular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2445 Label: Conotruncal heart malformations - 'Conotruncal heart malformations' SubClassOf 'group of disorders' + 'Conotruncal heart malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2443 Label: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2444 Label: Congenital pulmonary airway malformation - 'Congenital pulmonary airway malformation' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary airway malformation' SubClassOf 'malformation syndrome' - 'Congenital pulmonary airway malformation' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 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"0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf 'malformation syndrome' + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_2447 Label: Congenital mitral malformation - 'Congenital mitral malformation' SubClassOf 'group of disorders' + 'Congenital mitral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159494 Label: mastermind-like domain containing 1 - 'mastermind-like domain containing 1' SubClassOf 'gene' - 'mastermind-like domain containing 1' SubClassOf 'Role in the phenotype of' some 'X-linked centronuclear myopathy' - 'mastermind-like domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' + 'mastermind-like domain containing 1' SubClassOf 'Role in the phenotype of' some 'X-linked centronuclear myopathy' + 'mastermind-like domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mastermind-like domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' + 'mastermind-like domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284411 Label: Glycerol kinase deficiency, juvenile form - 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' - 'Glycerol kinase deficiency, juvenile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, juvenile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2442 Label: X-linked lymphoproliferative disease - 'X-linked lymphoproliferative disease' SubClassOf 'disease' - 'X-linked lymphoproliferative disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked lymphoproliferative disease' SubClassOf 'part_of' some 'Primary hemophagocytic lymphohistiocytosis' - 'X-linked lymphoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'X-linked lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked lymphoproliferative disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked lymphoproliferative disease' SubClassOf 'disease' + 'X-linked lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hemophagocytic lymphohistiocytosis' + 'X-linked lymphoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_183589 Label: Genetic thrombotic microangiopathy - 'Genetic thrombotic microangiopathy' SubClassOf 'group of disorders' + 'Genetic thrombotic microangiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252175 Label: Vestibular schwannoma - 'Vestibular schwannoma' SubClassOf 'part_of' some 'Benign schwannoma' - 'Vestibular schwannoma' SubClassOf 'clinical subtype' + 'Vestibular schwannoma' SubClassOf 'clinical subtype' + 'Vestibular schwannoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign schwannoma' Class: http://www.orpha.net/ORDO/Orphanet_2440 Label: Split hand-split foot malformation - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Split hand-split foot malformation' SubClassOf 'malformation syndrome' - 'Split hand-split foot malformation' SubClassOf 'part_of' some 'Split hand or/and split foot malformation' - 'Split hand-split foot malformation' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand or/and split foot malformation' + 'Split hand-split foot malformation' SubClassOf 'malformation syndrome' + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_284414 Label: Glycerol kinase deficiency, adult form - 'Glycerol kinase deficiency, adult form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' - 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284417 Label: Phosphoserine aminotransferase deficiency - 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disorder due to serine deficiency' + 'Phosphoserine aminotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disorder due to serine deficiency' + 'Phosphoserine aminotransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_160112 Label: complement component 7 - 'complement component 7' SubClassOf 'gene' - 'complement component 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2429 Label: Macrocephaly - spastic paraplegia - dysmorphism - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'malformation syndrome' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_prevalence' some 'Unknown' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'malformation syndrome' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2432 Label: Macrosomia - microphthalmia - cleft palate - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'malformation syndrome' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'malformation syndrome' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_160107 Label: complement component 6 - 'complement component 6' SubClassOf 'gene' - 'complement component 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2435 Label: Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'disease' - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'part_of' some 'Genetic pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2437 Label: Split hand - urinary anomalies - spina bifida - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'malformation syndrome' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand - urinary anomalies - spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'malformation syndrome' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2438 Label: Hand-foot-genital syndrome - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Hand-foot-genital syndrome' SubClassOf 'malformation syndrome' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hand-foot-genital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hand-foot-genital syndrome' SubClassOf 'malformation syndrome' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hand-foot-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2439 Label: Patterson-Stevenson-Fontaine syndrome - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'malformation syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2430 Label: Congenital macroglossia - 'Congenital macroglossia' SubClassOf 'malformation syndrome' - 'Congenital macroglossia' SubClassOf 'part_of' some 'Macroglossia' + 'Congenital macroglossia' SubClassOf 'malformation syndrome' + 'Congenital macroglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_2431 Label: Central bilateral macrogyria - 'Central bilateral macrogyria' SubClassOf 'part_of' some 'Cerebral cortical dysplasia' - 'Central bilateral macrogyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Central bilateral macrogyria' SubClassOf 'disease' - 'Central bilateral macrogyria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Central bilateral macrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral cortical dysplasia' + 'Central bilateral macrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central bilateral macrogyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Central bilateral macrogyria' SubClassOf 'disease' + 'Central bilateral macrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_252183 Label: Neurofibroma - 'Neurofibroma' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' - 'Neurofibroma' SubClassOf 'disease' + 'Neurofibroma' SubClassOf 'disease' + 'Neurofibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_356203 Label: retinol binding protein 4, plasma - 'retinol binding protein 4, plasma' SubClassOf 'gene' - 'retinol binding protein 4, plasma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive retinal dystrophy due to retinol transport defect' + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive retinal dystrophy due to retinol transport defect' + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363582 Label: Gonadal germ cell tumor - 'Gonadal germ cell tumor' SubClassOf 'group of disorders' + 'Gonadal germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93665 Label: Autoinflammatory syndrome - 'Autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2467 Label: Systemic mastocytosis - 'Systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Systemic mastocytosis' SubClassOf 'group of disorders' - 'Systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Systemic mastocytosis' SubClassOf 'group of disorders' + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2466 Label: MASA syndrome - 'MASA syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MASA syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MASA syndrome' SubClassOf 'part_of' some 'X-linked complex spastic paraplegia' - 'MASA syndrome' SubClassOf 'part_of' some 'L1 syndrome' - 'MASA syndrome' SubClassOf 'clinical subtype' - 'MASA syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked complex spastic paraplegia' + 'MASA syndrome' SubClassOf 'clinical subtype' + 'MASA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MASA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2463 Label: Marfanoid habitus - intellectual disability, autosomal recessive - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93672 Label: Juvenile dermatomyositis - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Juvenile dermatomyositis' SubClassOf 'has_prevalence' some 'Unknown' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Juvenile idiopathic inflammatory myopathy' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile dermatomyositis' SubClassOf 'disease' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.295"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile dermatomyositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile dermatomyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2464 Label: Marfanoid syndrome, De Silva type - 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' - 'Marfanoid syndrome, De Silva type' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Marfanoid syndrome, De Silva type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2461 Label: Marden-Walker syndrome - 'Marden-Walker syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Marden-Walker syndrome' SubClassOf 'malformation syndrome' - 'Marden-Walker syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marden-Walker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Marden-Walker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marden-Walker syndrome' SubClassOf 'malformation syndrome' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Marden-Walker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_2462 Label: Shprintzen-Goldberg syndrome - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Shprintzen-Goldberg syndrome' SubClassOf 'malformation syndrome' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Shprintzen-Goldberg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Shprintzen-Goldberg syndrome' SubClassOf 'malformation syndrome' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122194 Label: GNAS complex locus - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudopseudohypoparathyroidism' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1A' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mazabraud syndrome' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'McCune-Albright syndrome' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1C' - 'GNAS complex locus' SubClassOf 'gene' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Monostotic fibrous dysplasia' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive osseous heteroplasia' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polyostotic fibrous dysplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive osseous heteroplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pseudohypoparathyroidism type 1A' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pseudopseudohypoparathyroidism' + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'McCune-Albright syndrome' + 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' + 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1C' + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Monostotic fibrous dysplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polyostotic fibrous dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2460 Label: Van den Ende-Gupta syndrome - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van den Ende-Gupta syndrome' SubClassOf 'malformation syndrome' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Van den Ende-Gupta syndrome' SubClassOf 'malformation syndrome' + 'Van den Ende-Gupta syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Van den Ende-Gupta syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_252190 Label: Inherited nervous system cancer-predisposing syndrome - 'Inherited nervous system cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited nervous system cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122192 Label: GM2 ganglioside activator - 'GM2 ganglioside activator' SubClassOf 'gene' - 'GM2 ganglioside activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM2-gangliosidosis, AB variant' + 'GM2 ganglioside activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GM2 ganglioside activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'GM2 ganglioside activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM2-gangliosidosis, AB variant' Class: http://www.orpha.net/ORDO/Orphanet_73423 Label: Acute ackee fruit intoxication - 'Acute ackee fruit intoxication' SubClassOf 'disease' - 'Acute ackee fruit intoxication' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute ackee fruit intoxication' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute ackee fruit intoxication' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute ackee fruit intoxication' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute ackee fruit intoxication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute ackee fruit intoxication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute ackee fruit intoxication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Acute ackee fruit intoxication' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363579 Label: Extragonadal germ cell tumor - 'Extragonadal germ cell tumor' SubClassOf 'group of disorders' + 'Extragonadal germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356212 Label: solute carrier family 25 (aspartate/glutamate carrier), member 12 - 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'gene' - 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epileptic encephalopathy with global cerebral demyelination' + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epileptic encephalopathy with global cerebral demyelination' + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2459 Label: Mansonelliasis - 'Mansonelliasis' SubClassOf 'disease' - 'Mansonelliasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Mansonelliasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Mansonelliasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mansonelliasis' SubClassOf 'part_of' some 'Filariasis' + 'Mansonelliasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mansonelliasis' SubClassOf 'disease' + 'Mansonelliasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mansonelliasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_2454 Label: Familial intestinal malrotation - facial anomalies - 'Familial intestinal malrotation - facial anomalies' SubClassOf 'malformation syndrome' - 'Familial intestinal malrotation - facial anomalies' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Familial intestinal malrotation - facial anomalies' SubClassOf 'malformation syndrome' + 'Familial intestinal malrotation - facial anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2456 Label: Familial supernumerary nipples - 'Familial supernumerary nipples' SubClassOf 'morphological anomaly' - 'Familial supernumerary nipples' SubClassOf 'part_of' some 'Excess breast volume or number' + 'Familial supernumerary nipples' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' + 'Familial supernumerary nipples' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2457 Label: Mandibuloacral dysplasia - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Primary osteolysis' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mandibuloacral dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia' SubClassOf 'malformation syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Mandibuloacral dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mandibuloacral dysplasia' SubClassOf 'malformation syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mandibuloacral dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93682 Label: Pediatric Castleman disease - 'Pediatric Castleman disease' SubClassOf 'part_of' some 'Castleman disease' - 'Pediatric Castleman disease' SubClassOf 'clinical subtype' + 'Pediatric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' + 'Pediatric Castleman disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_178025 Label: Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations - 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'group of disorders' + 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2451 Label: Mucocutaneous venous malformations - 'Mucocutaneous venous malformations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mucocutaneous venous malformations' SubClassOf 'malformation syndrome' - 'Mucocutaneous venous malformations' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Mucocutaneous venous malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mucocutaneous venous malformations' SubClassOf 'part_of' some 'Venous malformation' - 'Mucocutaneous venous malformations' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mucocutaneous venous malformations' SubClassOf 'malformation syndrome' + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Mucocutaneous venous malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mucocutaneous venous malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Mucocutaneous venous malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122188 Label: glutamate dehydrogenase 1 - 'glutamate dehydrogenase 1' SubClassOf 'gene' - 'glutamate dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism-hyperammonemia syndrome' + 'glutamate dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism-hyperammonemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2452 Label: Vascular malposition - 'Vascular malposition' SubClassOf 'has_prevalence' some 'Unknown' - 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vascular malposition' SubClassOf 'group of disorders' + 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Vascular malposition' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284400 Label: Small cell carcinoma of the bladder - 'Small cell carcinoma of the bladder' SubClassOf 'has_inheritance' some 'sporadic' - 'Small cell carcinoma of the bladder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Small cell carcinoma of the bladder' SubClassOf 'part_of' some 'Rare urinary tract tumor' - 'Small cell carcinoma of the bladder' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Small cell carcinoma of the bladder' SubClassOf 'disease' + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Small cell carcinoma of the bladder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Small cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urinary tract tumor' + 'Small cell carcinoma of the bladder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Small cell carcinoma of the bladder' SubClassOf 'disease' + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122182 Label: glycine receptor, beta - 'glycine receptor, beta' SubClassOf 'gene' - 'glycine receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycine receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178029 Label: Central diabetes insipidus - 'Central diabetes insipidus' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Central diabetes insipidus' SubClassOf 'disease' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Central diabetes insipidus' SubClassOf 'part_of' some 'Pituitary deficiency' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Central diabetes insipidus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary deficiency' + 'Central diabetes insipidus' SubClassOf 'disease' + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_284454 Label: Acute zonal occult outer retinopathy - 'Acute zonal occult outer retinopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Acute zonal occult outer retinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Acute zonal occult outer retinopathy' SubClassOf 'disease' + 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Acute zonal occult outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute zonal occult outer retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute zonal occult outer retinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251365 Label: Sickle cell - hemoglobin C disease - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - hemoglobin C disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin C disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Sickle cell - hemoglobin C disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell - hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin C disease' SubClassOf 'disease' + 'Sickle cell - hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_269212 Label: Isolated Dandy-Walker malformation with hydrocephalus - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'clinical subtype' - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'clinical subtype' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_324708 Label: Hereditary cerebral hemorrhage with amyloidosis, Iowa type - 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_252131 Label: Benign peripheral nerve sheath tumor - 'Benign peripheral nerve sheath tumor' SubClassOf 'group of disorders' + 'Benign peripheral nerve sheath tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295229 Label: Congenital genu recurvatum - 'Congenital genu recurvatum' SubClassOf 'clinical subtype' - 'Congenital genu recurvatum' SubClassOf 'part_of' some 'Congenital knee dislocation' + 'Congenital genu recurvatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital knee dislocation' + 'Congenital genu recurvatum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2400 Label: Peripheral motor neuropathy - dysautonomia - 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'disease' - 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'part_of' some 'Primary orthostatic hypotension' + 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'disease' + 'Peripheral motor neuropathy - dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_295227 Label: Congenital elbow dislocation, bilateral - 'Congenital elbow dislocation, bilateral' SubClassOf 'part_of' some 'Congenital elbow dislocation' - 'Congenital elbow dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital elbow dislocation' + 'Congenital elbow dislocation, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2404 Label: Loiasis - 'Loiasis' SubClassOf 'part_of' some 'Filariasis' - 'Loiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Loiasis' SubClassOf 'disease' - 'Loiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Loiasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Loiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Loiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Loiasis' SubClassOf 'disease' + 'Loiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269218 Label: Isolated unilateral hemispheric cerebellar hypoplasia - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'part_of' some 'Malformation of the cerebellar hemispheres' - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_269215 Label: Isolated Dandy-Walker malformation without hydrocephalus - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'clinical subtype' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated Dandy-Walker malformation' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2406 Label: Locked-in syndrome - 'Locked-in syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Locked-in syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Locked-in syndrome' SubClassOf 'disease' - 'Locked-in syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Locked-in syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Locked-in syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Locked-in syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Locked-in syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Locked-in syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Locked-in syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2405 Label: Thickened earlobes - conductive deafness - 'Thickened earlobes - conductive deafness' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Thickened earlobes - conductive deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thickened earlobes - conductive deafness' SubClassOf 'malformation syndrome' - 'Thickened earlobes - conductive deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thickened earlobes - conductive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Thickened earlobes - conductive deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thickened earlobes - conductive deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thickened earlobes - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Thickened earlobes - conductive deafness' SubClassOf 'malformation syndrome' + 'Thickened earlobes - conductive deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_76 Label: Strongyloidiasis - 'Strongyloidiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Strongyloidiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Strongyloidiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Strongyloidiasis' SubClassOf 'disease' - 'Strongyloidiasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Strongyloidiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Strongyloidiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Strongyloidiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Strongyloidiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77 Label: Aniridia - 'Aniridia' SubClassOf 'group of disorders' - 'Aniridia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf 'group of disorders' + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_295232 Label: Congenital genu flexum - 'Congenital genu flexum' SubClassOf 'part_of' some 'Congenital knee dislocation' - 'Congenital genu flexum' SubClassOf 'clinical subtype' + 'Congenital genu flexum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital knee dislocation' + 'Congenital genu flexum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_74 Label: Angiostrongyliasis - 'Angiostrongyliasis' SubClassOf 'disease' - 'Angiostrongyliasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Angiostrongyliasis' SubClassOf 'disease' + 'Angiostrongyliasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_72 Label: Angelman syndrome - 'Angelman syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Angelman syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Angelman syndrome' SubClassOf 'malformation syndrome' - 'Angelman syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Angelman syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Angelman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'malformation syndrome' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295237 Label: Congenital patella dislocation, bilateral - 'Congenital patella dislocation, bilateral' SubClassOf 'part_of' some 'Congenital patella dislocation' - 'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_73 Label: Gorham-Stout disease - 'Gorham-Stout disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Gorham-Stout disease' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Gorham-Stout disease' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'Gorham-Stout disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Gorham-Stout disease' SubClassOf 'malformation syndrome' - 'Gorham-Stout disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Gorham-Stout disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' + 'Gorham-Stout disease' SubClassOf 'malformation syndrome' + 'Gorham-Stout disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_365563 Label: Primary short bowel syndrome - 'Primary short bowel syndrome' SubClassOf 'group of disorders' + 'Primary short bowel syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70 Label: Proximal spinal muscular atrophy - 'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy' SubClassOf 'disease' - 'Proximal spinal muscular atrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Proximal spinal muscular atrophy' SubClassOf 'disease' + 'Proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_71 Label: Chylomicron retention disease - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chylomicron retention disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chylomicron retention disease' SubClassOf 'disease' - 'Chylomicron retention disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' + 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypobetalipoproteinemia' + 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chylomicron retention disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chylomicron retention disease' SubClassOf 'disease' + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Chylomicron retention disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_295234 Label: Congenital patella dislocation, unilateral - 'Congenital patella dislocation, unilateral' SubClassOf 'part_of' some 'Congenital patella dislocation' - 'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital patella dislocation' + 'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_233186 Label: hemoglobin, gamma G - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobinopathy Toms River' - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, gamma G' SubClassOf 'gene' - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, gamma G' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobinopathy Toms River' + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, gamma G' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' Class: http://www.orpha.net/ORDO/Orphanet_251359 Label: Sickle cell - beta-thalassemia disease - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'disease' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sickle cell - beta-thalassemia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - beta-thalassemia disease' SubClassOf 'disease' + 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_284448 Label: CLIPPERS - 'CLIPPERS' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CLIPPERS' SubClassOf 'disease' - 'CLIPPERS' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'CLIPPERS' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLIPPERS' SubClassOf 'has_inheritance' some 'sporadic' + 'CLIPPERS' SubClassOf 'disease' + 'CLIPPERS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLIPPERS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' + 'CLIPPERS' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLIPPERS' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_78 Label: Ankylostomiasis - 'Ankylostomiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankylostomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Ankylostomiasis' SubClassOf 'disease' - 'Ankylostomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ankylostomiasis' SubClassOf 'has_inheritance' some 'sporadic' + 'Ankylostomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ankylostomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ankylostomiasis' SubClassOf 'disease' + 'Ankylostomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_233184 Label: hemoglobin, gamma A - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' - 'hemoglobin, gamma A' SubClassOf 'gene' - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, gamma A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79 Label: Congenital alpha2 antiplasmin deficiency - 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'disease' - 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'disease' + 'Congenital alpha2 antiplasmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_324713 Label: Hereditary cerebral hemorrhage with amyloidosis, Italian type - 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_269200 Label: Retrocerebellar cyst - 'Retrocerebellar cyst' SubClassOf 'morphological anomaly' - 'Retrocerebellar cyst' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' - 'Retrocerebellar cyst' SubClassOf 'has_prevalence' some 'Unknown' + 'Retrocerebellar cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' + 'Retrocerebellar cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_265147 Label: protease, serine, 56 - 'protease, serine, 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'protease, serine, 56' SubClassOf 'gene' + 'protease, serine, 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'protease, serine, 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protease, serine, 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269203 Label: Isolated cerebellar vermis agenesis - 'Isolated cerebellar vermis agenesis' SubClassOf 'morphological anomaly' - 'Isolated cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cerebellar vermis agenesis' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' + 'Isolated cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar vermis' + 'Isolated cerebellar vermis agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251375 Label: Sickle cell - hemoglobin E disease - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sickle cell - hemoglobin E disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin E disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sickle cell - hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin E disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell - hemoglobin E disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295217 Label: Radio-ulnar synostosis, unilateral - 'Radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' - 'Radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Radio-ulnar synostosis' + 'Radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_284460 Label: Acute annular outer retinopathy - 'Acute annular outer retinopathy' SubClassOf 'disease' - 'Acute annular outer retinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acute annular outer retinopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Acute annular outer retinopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute annular outer retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acute annular outer retinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute annular outer retinopathy' SubClassOf 'disease' + 'Acute annular outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute annular outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Acute annular outer retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269209 Label: Isolated partial cerebellar vermis agenesis - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'clinical subtype' - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'part_of' some 'Isolated cerebellar vermis agenesis' - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated partial cerebellar vermis agenesis' SubClassOf 'clinical subtype' + 'Isolated partial cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cerebellar vermis agenesis' Class: http://www.orpha.net/ORDO/Orphanet_295219 Label: Radio-ulnar synostosis, bilateral - 'Radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' - 'Radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Radio-ulnar synostosis' + 'Radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_251370 Label: Sickle cell - hemoglobin D disease - 'Sickle cell - hemoglobin D disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - hemoglobin D disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sickle cell - hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin D disease' SubClassOf 'disease' + 'Sickle cell - hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - hemoglobin D disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_269206 Label: Isolated total cerebellar vermis agenesis - 'Isolated total cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated total cerebellar vermis agenesis' SubClassOf 'clinical subtype' - 'Isolated total cerebellar vermis agenesis' SubClassOf 'part_of' some 'Isolated cerebellar vermis agenesis' + 'Isolated total cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cerebellar vermis agenesis' + 'Isolated total cerebellar vermis agenesis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_85 Label: Congenital dyserythropoietic anemia - 'Congenital dyserythropoietic anemia' SubClassOf 'group of disorders' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital dyserythropoietic anemia' SubClassOf 'group of disorders' + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86 Label: Familial abdominal aortic aneurysm - 'Familial abdominal aortic aneurysm' SubClassOf 'part_of' some 'Rare genetic vascular disease' - 'Familial abdominal aortic aneurysm' SubClassOf 'disease' + 'Familial abdominal aortic aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic vascular disease' + 'Familial abdominal aortic aneurysm' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_87 Label: Apert syndrome - 'Apert syndrome' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Apert syndrome' SubClassOf 'part_of' some 'Acrocephalosyndactyly' - 'Apert syndrome' SubClassOf 'malformation syndrome' - 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Apert syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Apert syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Apert syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrocephalosyndactyly' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf 'malformation syndrome' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Apert syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_88 Label: Idiopathic aplastic anemia - 'Idiopathic aplastic anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Idiopathic aplastic anemia' SubClassOf 'part_of' some 'Rare acquired medullar aplasia' - 'Idiopathic aplastic anemia' SubClassOf 'disease' - 'Idiopathic aplastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Idiopathic aplastic anemia' SubClassOf 'disease' + 'Idiopathic aplastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired medullar aplasia' + 'Idiopathic aplastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic aplastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_295221 Label: Madelung deformity, unilateral - 'Madelung deformity, unilateral' SubClassOf 'clinical subtype' - 'Madelung deformity, unilateral' SubClassOf 'part_of' some 'Madelung deformity' + 'Madelung deformity, unilateral' SubClassOf 'clinical subtype' + 'Madelung deformity, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Madelung deformity' Class: http://www.orpha.net/ORDO/Orphanet_81 Label: Antisynthetase syndrome - 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Antisynthetase syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Antisynthetase syndrome' SubClassOf 'disease' - 'Antisynthetase syndrome' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Antisynthetase syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Antisynthetase syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Antisynthetase syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Antisynthetase syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Antisynthetase syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_82 Label: Hereditary thrombophilia due to congenital antithrombin deficiency - 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295223 Label: Madelung deformity, bilateral - 'Madelung deformity, bilateral' SubClassOf 'clinical subtype' - 'Madelung deformity, bilateral' SubClassOf 'part_of' some 'Madelung deformity' + 'Madelung deformity, bilateral' SubClassOf 'clinical subtype' + 'Madelung deformity, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Madelung deformity' Class: http://www.orpha.net/ORDO/Orphanet_83 Label: Antley-Bixler syndrome - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Antley-Bixler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Antley-Bixler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Antley-Bixler syndrome' SubClassOf 'malformation syndrome' - 'Antley-Bixler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Antley-Bixler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Antley-Bixler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Antley-Bixler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Antley-Bixler syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84 Label: Fanconi anemia - 'Fanconi anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Fanconi anemia' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Fanconi anemia' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Fanconi anemia' SubClassOf 'malformation syndrome' - 'Fanconi anemia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fanconi anemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fanconi anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Fanconi anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Fanconi anemia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fanconi anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fanconi anemia' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Fanconi anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf 'malformation syndrome' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295225 Label: Congenital elbow dislocation, unilateral - 'Congenital elbow dislocation, unilateral' SubClassOf 'part_of' some 'Congenital elbow dislocation' - 'Congenital elbow dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital elbow dislocation' Class: http://www.orpha.net/ORDO/Orphanet_324703 Label: Hereditary cerebral hemorrhage with amyloidosis, Piedmont type - 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2420 Label: Primary pulmonary lymphoma - 'Primary pulmonary lymphoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Primary pulmonary lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary pulmonary lymphoma' SubClassOf 'disease' - 'Primary pulmonary lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary pulmonary lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary pulmonary lymphoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Primary pulmonary lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary pulmonary lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary pulmonary lymphoma' SubClassOf 'disease' + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_284435 Label: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to lactate dehydrogenase deficiency' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to lactate dehydrogenase deficiency' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251383 Label: CK syndrome - 'CK syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'CK syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CK syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'CK syndrome' SubClassOf 'malformation syndrome' - 'CK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CK syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'CK syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'CK syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'CK syndrome' SubClassOf 'malformation syndrome' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'CK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'CK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_295209 Label: Humero-radial synostosis, unilateral - 'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype' - 'Humero-radial synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radial synostosis' + 'Humero-radial synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radial synostosis' + 'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2427 Label: Macrocephaly - short stature - paraplegia - 'Macrocephaly - short stature - paraplegia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'malformation syndrome' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Macrocephaly - short stature - paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Macrocephaly - short stature - paraplegia' SubClassOf 'malformation syndrome' + 'Macrocephaly - short stature - paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Macrocephaly - short stature - paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_251380 Label: Hereditary persistence of fetal hemoglobin - sickle cell disease - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'disease' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'disease' + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295207 Label: Humero-radio-ulnar synostosis, bilateral - 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' - 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis' + 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295205 Label: Humero-radio-ulnar synostosis, unilateral - 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis' - 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radio-ulnar synostosis' + 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_50 Label: Aicardi syndrome - 'Aicardi syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Aicardi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aicardi syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Aicardi syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Aicardi syndrome' SubClassOf 'disease' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Aicardi syndrome' SubClassOf 'disease' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Aicardi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Aicardi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295215 Label: Humero-ulnar synostosis, bilateral - 'Humero-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' - 'Humero-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-ulnar synostosis' + 'Humero-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_51 Label: Aicardi-Gouti�res syndrome - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Leukodystrophy' - 'Aicardi-Gouti�res syndrome' SubClassOf 'disease' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Aicardi-Gouti�res syndrome' SubClassOf 'disease' + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295213 Label: Humero-ulnar synostosis, unilateral - 'Humero-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' - 'Humero-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_54 Label: X-linked recessive ocular albinism - 'X-linked recessive ocular albinism' SubClassOf 'part_of' some 'Ocular albinism' - 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked recessive ocular albinism' SubClassOf 'disease' - 'X-linked recessive ocular albinism' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked recessive ocular albinism' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked recessive ocular albinism' SubClassOf 'disease' + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.58"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295211 Label: Humero-radial synostosis, bilateral - 'Humero-radial synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radial synostosis' - 'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radial synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_55 Label: Oculocutaneous albinism - 'Oculocutaneous albinism' SubClassOf 'group of disorders' - 'Oculocutaneous albinism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculocutaneous albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism' SubClassOf 'group of disorders' + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_52 Label: Alagille syndrome - 'Alagille syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Alagille syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Alagille syndrome' SubClassOf 'malformation syndrome' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Alagille syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Alagille syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Alagille syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Alagille syndrome' SubClassOf 'part_of' some 'Genetic biliary tract disease' - 'Alagille syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic biliary tract disease' + 'Alagille syndrome' SubClassOf 'malformation syndrome' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' + 'Alagille syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_53 Label: Albers-Sch�nberg osteopetrosis - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'malformation syndrome' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'malformation syndrome' + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_58 Label: Alexander disease - 'Alexander disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Alexander disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alexander disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Alexander disease' SubClassOf 'disease' - 'Alexander disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Alexander disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alexander disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Alexander disease' SubClassOf 'part_of' some 'Abnormal eye movements' + 'Alexander disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.037"^^http://www.w3.org/2001/XMLSchema#string) + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Alexander disease' SubClassOf 'disease' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Alexander disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Alexander disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_315787 Label: cancer susceptibility candidate 5 - 'cancer susceptibility candidate 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'cancer susceptibility candidate 5' SubClassOf 'gene' + 'cancer susceptibility candidate 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'cancer susceptibility candidate 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'cancer susceptibility candidate 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_284426 Label: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to lactate dehydrogenase deficiency' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to lactate dehydrogenase deficiency' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_59 Label: Allan-Herndon-Dudley syndrome - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'clinical subtype' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Peripheral hypothyroidism' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Pure or complex X-linked spastic paraplegia' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex X-linked spastic paraplegia' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'clinical subtype' + 'Allan-Herndon-Dudley syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral hypothyroidism' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_56 Label: Alkaptonuria - 'Alkaptonuria' SubClassOf 'part_of' some 'Pigmented conjunctival lesion' - 'Alkaptonuria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Alkaptonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Alkaptonuria' SubClassOf 'disease' - 'Alkaptonuria' SubClassOf 'part_of' some 'Other metabolic disease with skin involvement' - 'Alkaptonuria' SubClassOf 'part_of' some 'Metabolic disease with skin involvement' - 'Alkaptonuria' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' + 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alkaptonuria' SubClassOf 'disease' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with skin involvement' + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with skin involvement' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmented conjunctival lesion' + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_57 Label: Glycogen storage disease due to aldolase A deficiency - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_324737 Label: SRD5A3-CDG - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SRD5A3-CDG' SubClassOf 'disease' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'SRD5A3-CDG' SubClassOf 'disease' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_324718 Label: Hereditary cerebral hemorrhage with amyloidosis, Flemish type - 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_269221 Label: Isolated bilateral hemispheric cerebellar hypoplasia - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'part_of' some 'Malformation of the cerebellar hemispheres' + 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_252164 Label: Benign schwannoma - 'Benign schwannoma' SubClassOf 'disease' - 'Benign schwannoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Benign schwannoma' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' + 'Benign schwannoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Benign schwannoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' + 'Benign schwannoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_269224 Label: Global cerebellar malformation - 'Global cerebellar malformation' SubClassOf 'group of disorders' + 'Global cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2416 Label: Congenital primary lymphedema - 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital primary lymphedema' SubClassOf 'group of disorders' - 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital primary lymphedema' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital primary lymphedema' SubClassOf 'group of disorders' + 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital primary lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2415 Label: Lymphatic malformation - 'Lymphatic malformation' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Lymphatic malformation' SubClassOf 'group of disorders' - 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' + 'Lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lymphatic malformation' SubClassOf 'group of disorders' + 'Lymphatic malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_269229 Label: Pontine tegmental cap dysplasia - 'Pontine tegmental cap dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontine tegmental cap dysplasia' SubClassOf 'morphological anomaly' - 'Pontine tegmental cap dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Pontine tegmental cap dysplasia' SubClassOf 'part_of' some 'Posterior fossa malformation' - 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pontine tegmental cap dysplasia' SubClassOf 'morphological anomaly' + 'Pontine tegmental cap dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pontine tegmental cap dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior fossa malformation' + 'Pontine tegmental cap dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2414 Label: Congenital pulmonary lymphangiectasia - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'disease' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'disease' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_251393 Label: Localized junctional epidermolysis bullosa, non-Herlitz type - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa, non-Herlitz type' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa, non-Herlitz type' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2412 Label: Dislocation of the hip - dysmorphism - 'Dislocation of the hip - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dislocation of the hip - dysmorphism' SubClassOf 'malformation syndrome' - 'Dislocation of the hip - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dislocation of the hip - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dislocation of the hip - dysmorphism' SubClassOf 'malformation syndrome' + 'Dislocation of the hip - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2410 Label: Hypergonadotropic hypogonadism - cataract syndrome - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'malformation syndrome' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'malformation syndrome' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_60 Label: Alpha-1-antitrypsin deficiency - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "47.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295201 Label: Congenital vertical talus, unilateral - 'Congenital vertical talus, unilateral' SubClassOf 'part_of' some 'Congenital vertical talus' - 'Congenital vertical talus, unilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, unilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_61 Label: Alpha-mannosidosis - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Alpha-mannosidosis' SubClassOf 'disease' - 'Alpha-mannosidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Alpha-mannosidosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Cataract associated with a metabolic disease' - 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Alpha-mannosidosis' SubClassOf 'disease' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cataract associated with a metabolic disease' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Alpha-mannosidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_225306 Label: nexilin (F actin binding protein) - 'nexilin (F actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'nexilin (F actin binding protein)' SubClassOf 'gene' + 'nexilin (F actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'nexilin (F actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nexilin (F actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_62 Label: Autosomal recessive limb-girdle muscular dystrophy type 2D - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-sarcoglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-sarcoglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295203 Label: Congenital vertical talus, bilateral - 'Congenital vertical talus, bilateral' SubClassOf 'clinical subtype' - 'Congenital vertical talus, bilateral' SubClassOf 'part_of' some 'Congenital vertical talus' + 'Congenital vertical talus, bilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_63 Label: Alport syndrome - 'Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Alport syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Alport syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Alport syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Alport syndrome' SubClassOf 'part_of' some 'Renal disease with cataract' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alport syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alport syndrome' SubClassOf 'disease' + 'Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal disease with cataract' + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alport syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2409 Label: Lowry-MacLean syndrome - 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Lowry-MacLean syndrome' SubClassOf 'malformation syndrome' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lowry-MacLean syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Lowry-MacLean syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lowry-MacLean syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lowry-MacLean syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Lowry-MacLean syndrome' SubClassOf 'malformation syndrome' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_64 Label: Alstr�m syndrome - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Alstr�m syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Alstr�m syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 2' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alstr�m syndrome' SubClassOf 'disease' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Alstr�m syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alstr�m syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 2' + 'Alstr�m syndrome' SubClassOf 'disease' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_65 Label: Leber congenital amaurosis - 'Leber congenital amaurosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Syndromic hyperopia' - 'Leber congenital amaurosis' SubClassOf 'disease' + 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hyperopia' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leber congenital amaurosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2407 Label: LOC syndrome - 'LOC syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'LOC syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LOC syndrome' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'LOC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'LOC syndrome' SubClassOf 'part_of' some 'Respiratory malformation' - 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'LOC syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'LOC syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'LOC syndrome' SubClassOf 'disease' - 'LOC syndrome' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'LOC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'LOC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'LOC syndrome' SubClassOf 'disease' + 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2408 Label: Lowe-Kohn-Cohen syndrome - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'malformation syndrome' + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Lowe-Kohn-Cohen syndrome' SubClassOf 'malformation syndrome' + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_67 Label: Amoebiasis due to Entamoeba histolytica - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_inheritance' some 'sporadic' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_prevalence' some 'Unknown' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'disease' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amoebiasis due to Entamoeba histolytica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_324723 Label: Hereditary cerebral hemorrhage with amyloidosis, Arctic type - 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_68 Label: Amoebiasis due to free-living amoebae - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Amoebiasis due to free-living amoebae' SubClassOf 'disease' - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Amoebiasis due to free-living amoebae' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_inheritance' some 'sporadic' + 'Amoebiasis due to free-living amoebae' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amoebiasis due to free-living amoebae' SubClassOf 'disease' + 'Amoebiasis due to free-living amoebae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Amoebiasis due to free-living amoebae' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Amoebiasis due to free-living amoebae' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_69 Label: Amyloidosis - 'Amyloidosis' SubClassOf 'group of disorders' + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amyloidosis' SubClassOf 'group of disorders' + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_56304 Label: Atelosteogenesis type II - 'Atelosteogenesis type II' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Atelosteogenesis type II' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_56305 Label: Atelosteogenesis type III - 'Atelosteogenesis type III' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some 'sporadic' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Atelosteogenesis type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Filamin-related bone disorder' + 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atelosteogenesis type III' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_87277 Label: Rare intellectual disability - 'Rare intellectual disability' SubClassOf 'group of disorders' + 'Rare intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180157 Label: Longitudinal vaginal septum - 'Longitudinal vaginal septum' SubClassOf 'part_of' some 'Septate vagina' - 'Longitudinal vaginal septum' SubClassOf 'clinical subtype' + 'Longitudinal vaginal septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate vagina' + 'Longitudinal vaginal septum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_225334 Label: ribosomal protein S10 - 'ribosomal protein S10' SubClassOf 'gene' - 'ribosomal protein S10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_39 Label: Acromelanosis - 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromelanosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Acromelanosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromelanosis' SubClassOf 'disease' + 'Acromelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Acromelanosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acromelanosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225332 Label: RAB39B, member RAS oncogene family - 'RAB39B, member RAS oncogene family' SubClassOf 'gene' - 'RAB39B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_38 Label: Acrokeratoelastoidosis of Costa - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Marginal papular palmoplantar keratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_prevalence' some 'Unknown' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Acrokeratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some 'sporadic' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal papular palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_180160 Label: Transverse vaginal septum - 'Transverse vaginal septum' SubClassOf 'part_of' some 'Septate vagina' - 'Transverse vaginal septum' SubClassOf 'clinical subtype' + 'Transverse vaginal septum' SubClassOf 'clinical subtype' + 'Transverse vaginal septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate vagina' Class: http://www.orpha.net/ORDO/Orphanet_37 Label: Acrodermatitis enteropathica - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Disorder of zinc metabolism' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' - 'Acrodermatitis enteropathica' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Metabolic disease with skin involvement' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Acrodermatitis enteropathica' SubClassOf 'disease' - 'Acrodermatitis enteropathica' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Other metabolic disease with skin involvement' - 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf 'disease' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Acrodermatitis enteropathica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrodermatitis enteropathica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Acrodermatitis enteropathica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of zinc metabolism' Class: http://www.orpha.net/ORDO/Orphanet_36 Label: Acrocallosal syndrome - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Acrocallosal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrocallosal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrocallosal syndrome' SubClassOf 'malformation syndrome' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocallosal syndrome' SubClassOf 'malformation syndrome' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35 Label: Propionic acidemia - 'Propionic acidemia' SubClassOf 'disease' - 'Propionic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Propionic acidemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Propionic acidemia' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Propionic acidemia' SubClassOf 'disease' + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Propionic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_180163 Label: Rare breast malformation - 'Rare breast malformation' SubClassOf 'group of disorders' + 'Rare breast malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33 Label: Isovaleric acidemia - 'Isovaleric acidemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isovaleric acidemia' SubClassOf 'disease' - 'Isovaleric acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isovaleric acidemia' SubClassOf 'part_of' some 'Classic organic aciduria' + 'Isovaleric acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf 'disease' + 'Isovaleric acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.53"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_32 Label: Glutathione synthetase deficiency - 'Glutathione synthetase deficiency' SubClassOf 'disease' - 'Glutathione synthetase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' - 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' - 'Glutathione synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glutathione synthetase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glutathione synthetase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutathione synthetase deficiency' SubClassOf 'disease' + 'Glutathione synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glutathione synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of the gamma-glutamyl cycle' Class: http://www.orpha.net/ORDO/Orphanet_31 Label: Oxoglutaricaciduria - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Oxoglutaricaciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oxoglutaricaciduria' SubClassOf 'disease' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Oxoglutaricaciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Oxoglutaricaciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Oxoglutaricaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oxoglutaricaciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oxoglutaricaciduria' SubClassOf 'disease' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_30 Label: Hereditary orotic aciduria - 'Hereditary orotic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary orotic aciduria' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Hereditary orotic aciduria' SubClassOf 'part_of' some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' - 'Hereditary orotic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary orotic aciduria' SubClassOf 'disease' - 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary orotic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' + 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary orotic aciduria' SubClassOf 'disease' + 'Hereditary orotic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_225339 Label: tetraspanin 12 - 'tetraspanin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'tetraspanin 12' SubClassOf 'gene' + 'tetraspanin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetraspanin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'tetraspanin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295279 Label: centrosomal protein 135kDa - 'centrosomal protein 135kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'centrosomal protein 135kDa' SubClassOf 'gene' + 'centrosomal protein 135kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 135kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 135kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_225337 Label: ribosomal protein S26 - 'ribosomal protein S26' SubClassOf 'gene' - 'ribosomal protein S26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_267102 Label: cytochrome c oxidase assembly factor 5 - 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'cytochrome c oxidase assembly factor 5' SubClassOf 'gene' - 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_49566 Label: Purpura fulminans - 'Purpura fulminans' SubClassOf 'disease' - 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Purpura fulminans' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Purpura fulminans' SubClassOf 'disease' + 'Purpura fulminans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_180170 Label: Excess breast volume or number - 'Excess breast volume or number' SubClassOf 'group of disorders' + 'Excess breast volume or number' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_49 Label: Penile agenesis - 'Penile agenesis' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Penile agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Penile agenesis' SubClassOf 'part_of' some '46,XY disorder of sex development' - 'Penile agenesis' SubClassOf 'morphological anomaly' + 'Penile agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development' + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Penile agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180173 Label: Deficient breast volume or number - 'Deficient breast volume or number' SubClassOf 'group of disorders' + 'Deficient breast volume or number' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_46 Label: Adenylosuccinate lyase deficiency - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Rare disease with autism' - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Adenylosuccinate lyase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Adenylosuccinate lyase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adenylosuccinate lyase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_45 Label: Adenosine monophosphate deaminase deficiency - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_48 Label: Congenital bilateral absence of vas deferens - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Male infertility due to obstructive azoospermia' - 'Congenital bilateral absence of vas deferens' SubClassOf 'morphological anomaly' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Genetic urogenital tract malformation' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Male infertility due to obstructive azoospermia of genetic origin' - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to obstructive azoospermia of genetic origin' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bilateral absence of vas deferens' SubClassOf 'morphological anomaly' + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Congenital bilateral absence of vas deferens' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tract malformation' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_180176 Label: Familial juvenile hypertrophy of the breast - 'Familial juvenile hypertrophy of the breast' SubClassOf 'has_inheritance' some 'sporadic' - 'Familial juvenile hypertrophy of the breast' SubClassOf 'part_of' some 'Excess breast volume or number' - 'Familial juvenile hypertrophy of the breast' SubClassOf 'morphological anomaly' + 'Familial juvenile hypertrophy of the breast' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Familial juvenile hypertrophy of the breast' SubClassOf 'morphological anomaly' + 'Familial juvenile hypertrophy of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_199894 Label: cadherin 15, type 1, M-cadherin (myotubule) - 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'gene' + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_47 Label: X-linked agammaglobulinemia - 'X-linked agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked agammaglobulinemia' SubClassOf 'part_of' some 'Isolated agammaglobulinemia' - 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some 'sporadic' - 'X-linked agammaglobulinemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked agammaglobulinemia' SubClassOf 'clinical subtype' + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated agammaglobulinemia' + 'X-linked agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410122) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410013) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf 'clinical subtype' + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_42 Label: Medium chain acyl-CoA dehydrogenase deficiency - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Acyl-CoA dehydrogenase deficiency' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.96"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_225329 Label: glutaredoxin, cysteine rich 1 - 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'glutaredoxin, cysteine rich 1' SubClassOf 'gene' + 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutaredoxin, cysteine rich 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_41 Label: Dyschromatosis symmetrica hereditaria - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_prevalence' some 'Unknown' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'disease' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'disease' + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_44 Label: Neonatal adrenoleukodystrophy - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neonatal adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_199890 Label: gamma-aminobutyric acid (GABA) A receptor, alpha 3 - 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_43 Label: X-linked adrenoleukodystrophy - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Metabolic disease with dementia' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal beta-oxidation disorder' - 'X-linked adrenoleukodystrophy' SubClassOf 'disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' + 'X-linked adrenoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with dementia' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409985) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'X-linked adrenoleukodystrophy' SubClassOf 'disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal beta-oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_40 Label: Acromesomelic dysplasia, Maroteaux type - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'malformation syndrome' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'part_of' some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_252117 Label: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) - 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'gene' - 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27-q28"^^http://www.w3.org/2001/XMLSchema#string + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280403 Label: Familial omphalocele syndrome with facial dysmorphism - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'malformation syndrome' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'part_of' some 'Rare genetic developmental defect during embryogenesis' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'malformation syndrome' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic developmental defect during embryogenesis' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_280406 Label: Familial steroid-resistant nephrotic syndrome with sensorineural deafness - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'disease' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280400 Label: Inherited prion disease - 'Inherited prion disease' SubClassOf 'group of disorders' + 'Inherited prion disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_200717 Label: solute carrier family 25, member 38 - 'solute carrier family 25, member 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive sideroblastic anemia' - 'solute carrier family 25, member 38' SubClassOf 'gene' + 'solute carrier family 25, member 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive sideroblastic anemia' + 'solute carrier family 25, member 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25, member 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280409 Label: coenzyme Q6 monooxygenase - 'coenzyme Q6 monooxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' - 'coenzyme Q6 monooxygenase' SubClassOf 'gene' + 'coenzyme Q6 monooxygenase' SubClassOf 'Major susceptibility factor in' some 'Neurofibromatosis type 3' + 'coenzyme Q6 monooxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'coenzyme Q6 monooxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' + 'coenzyme Q6 monooxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_15 Label: Achondroplasia - 'Achondroplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondroplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Achondroplasia' SubClassOf 'disease' - 'Achondroplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Achondroplasia' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Achondroplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Achondroplasia' SubClassOf 'disease' + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Achondroplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_14 Label: Abetalipoproteinemia - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Constitutional hemolytic anemia due to acanthocytosis' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Abetalipoproteinemia' SubClassOf 'disease' - 'Abetalipoproteinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Abetalipoproteinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional hemolytic anemia due to acanthocytosis' + 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Abetalipoproteinemia' SubClassOf 'disease' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypobetalipoproteinemia' + 'Abetalipoproteinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180188 Label: Isolated breast aplasia - 'Isolated breast aplasia' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Isolated breast aplasia' SubClassOf 'morphological anomaly' + 'Isolated breast aplasia' SubClassOf 'morphological anomaly' + 'Isolated breast aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_13 Label: 6-pyruvoyl-tetrahydropterin synthase deficiency - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_225351 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial rhabdoid tumor' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Small cell carcinoma of the ovary' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial rhabdoid tumor' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Small cell carcinoma of the ovary' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' Class: http://www.orpha.net/ORDO/Orphanet_19 Label: 2-hydroxyglutaric aciduria - '2-hydroxyglutaric aciduria' SubClassOf 'group of disorders' - '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal dominant' - '2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some 'Unknown' + '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '2-hydroxyglutaric aciduria' SubClassOf 'group of disorders' + '2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_233165 Label: CCAAT/enhancer binding protein (C/EBP), alpha - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'gene' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with CEBPA somatic mutations' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with CEBPA somatic mutations' Class: http://www.orpha.net/ORDO/Orphanet_18 Label: Distal renal tubular acidosis - 'Distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Distal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal renal tubular acidosis' SubClassOf 'disease' + 'Distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Distal renal tubular acidosis' SubClassOf 'disease' + 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_17 Label: Fatal infantile lactic acidosis with methylmalonic aciduria - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_16 Label: Blue cone monochromatism - 'Blue cone monochromatism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Blue cone monochromatism' SubClassOf 'part_of' some 'Color-vision disease' - 'Blue cone monochromatism' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Blue cone monochromatism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blue cone monochromatism' SubClassOf 'disease' + 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Color-vision disease' + 'Blue cone monochromatism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Blue cone monochromatism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Blue cone monochromatism' SubClassOf 'disease' + 'Blue cone monochromatism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Blue cone monochromatism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_180182 Label: Supernumerary breasts - 'Supernumerary breasts' SubClassOf 'morphological anomaly' - 'Supernumerary breasts' SubClassOf 'part_of' some 'Excess breast volume or number' + 'Supernumerary breasts' SubClassOf 'morphological anomaly' + 'Supernumerary breasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_11 Label: Pentasomy X - 'Pentasomy X' SubClassOf 'has_prevalence' some 'Unknown' - 'Pentasomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Pentasomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pentasomy X' SubClassOf 'malformation syndrome' + 'Pentasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Pentasomy X' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_10 Label: 48,XXYY syndrome - '48,XXYY syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '48,XXYY syndrome' SubClassOf 'part_of' some 'X and Y chromosomal anomaly' - '48,XXYY syndrome' SubClassOf 'malformation syndrome' - '48,XXYY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + '48,XXYY syndrome' SubClassOf 'malformation syndrome' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X and Y chromosomal anomaly' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '48,XXYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '48,XXYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '48,XXYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_325706 Label: Genetic 46,XY disorder of sex development - 'Genetic 46,XY disorder of sex development' SubClassOf 'group of disorders' + 'Genetic 46,XY disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252128 Label: Malignant perineurioma - 'Malignant perineurioma' SubClassOf 'disease' - 'Malignant perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Malignant perineurioma' SubClassOf 'disease' + 'Malignant perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_295239 Label: Macrodactyly of fingers, unilateral - 'Macrodactyly of fingers, unilateral' SubClassOf 'part_of' some 'Macrodactyly of fingers' - 'Macrodactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_265161 Label: forkhead box D3 - 'forkhead box D3' SubClassOf 'gene' - 'forkhead box D3' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'forkhead box D3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box D3' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'forkhead box D3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_24 Label: Fumaric aciduria - 'Fumaric aciduria' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Fumaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'Fumaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fumaric aciduria' SubClassOf 'disease' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' + 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Fumaric aciduria' SubClassOf 'disease' + 'Fumaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fumaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_23 Label: Argininosuccinic aciduria - 'Argininosuccinic aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Argininosuccinic aciduria' SubClassOf 'disease' - 'Argininosuccinic aciduria' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Argininosuccinic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Argininosuccinic aciduria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf 'disease' + 'Argininosuccinic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Argininosuccinic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_26 Label: Methylmalonic acidemia with homocystinuria - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Classic organic aciduria' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_180199 Label: Rare non-malformative gynecologic or obstetric disease - 'Rare non-malformative gynecologic or obstetric disease' SubClassOf 'group of disorders' + 'Rare non-malformative gynecologic or obstetric disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_25 Label: Glutaryl-CoA dehydrogenase deficiency - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "333.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral organic aciduria' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_28 Label: Vitamin B12-responsive methylmalonic acidemia - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Methylmalonic acidemia without homocystinuria' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_225343 Label: SH3 and PX domains 2B - 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dermato-cardio-skeletal syndrome, Borrone type' - 'SH3 and PX domains 2B' SubClassOf 'gene' - 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frank-Ter Haar syndrome' + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dermato-cardio-skeletal syndrome, Borrone type' + 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frank-Ter Haar syndrome' + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_27 Label: Vitamin B12-unresponsive methylmalonic acidemia - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'part_of' some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_180193 Label: Syndromic breast hypoplasia/aplasia - 'Syndromic breast hypoplasia/aplasia' SubClassOf 'group of disorders' + 'Syndromic breast hypoplasia/aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_29 Label: Mevalonic aciduria - 'Mevalonic aciduria' SubClassOf 'disease' - 'Mevalonic aciduria' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mevalonic aciduria' SubClassOf 'part_of' some 'Mevalonate kinase deficiency' - 'Mevalonic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mevalonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mevalonic aciduria' SubClassOf 'disease' + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mevalonate kinase deficiency' + 'Mevalonic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Mevalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295245 Label: Macrodactyly of toes, bilateral - 'Macrodactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Macrodactyly of toes, bilateral' SubClassOf 'part_of' some 'Macrodactyly of toes' + 'Macrodactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295241 Label: Macrodactyly of fingers, bilateral - 'Macrodactyly of fingers, bilateral' SubClassOf 'clinical subtype' - 'Macrodactyly of fingers, bilateral' SubClassOf 'part_of' some 'Macrodactyly of fingers' + 'Macrodactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_20 Label: 3-hydroxy-3-methylglutaric aciduria - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'part_of' some 'Classic organic aciduria' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_prevalence' some 'Unknown' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ketone body metabolism' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.97"^^http://www.w3.org/2001/XMLSchema#string) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_295243 Label: Macrodactyly of toes, unilateral - 'Macrodactyly of toes, unilateral' SubClassOf 'part_of' some 'Macrodactyly of toes' - 'Macrodactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_22 Label: 4-hydroxybutyric aciduria - '4-hydroxybutyric aciduria' SubClassOf 'disease' - '4-hydroxybutyric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - '4-hydroxybutyric aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '4-hydroxybutyric aciduria' SubClassOf 'has_prevalence' some 'Unknown' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Disorder of gamma-aminobutyric acid metabolism' + '4-hydroxybutyric aciduria' SubClassOf 'disease' + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + '4-hydroxybutyric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of gamma-aminobutyric acid metabolism' + '4-hydroxybutyric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_306547 Label: Porencephaly-microcephaly-bilateral congenital cataract syndrome - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306542 Label: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119559 Label: aryl hydrocarbon receptor interacting protein-like 1 - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'gene' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262914 Label: Partial duplication of the long arm of chromosome 10 - 'Partial duplication of the long arm of chromosome 10' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_48162 Label: Lewis-Sumner syndrome - 'Lewis-Sumner syndrome' SubClassOf 'part_of' some 'Chronic inflammatory demyelinating polyneuropathy' - 'Lewis-Sumner syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Lewis-Sumner syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lewis-Sumner syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lewis-Sumner syndrome' SubClassOf 'clinical subtype' + 'Lewis-Sumner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lewis-Sumner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic inflammatory demyelinating polyneuropathy' + 'Lewis-Sumner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Lewis-Sumner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lewis-Sumner syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251615 Label: Pilomyxoid astrocytoma - 'Pilomyxoid astrocytoma' SubClassOf 'part_of' some 'Pilocytic astrocytoma' - 'Pilomyxoid astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pilomyxoid astrocytoma' SubClassOf 'histopathological subtype' - 'Pilomyxoid astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Pilomyxoid astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pilomyxoid astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pilomyxoid astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pilocytic astrocytoma' + 'Pilomyxoid astrocytoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_251612 Label: Pilocytic astrocytoma - 'Pilocytic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pilocytic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pilocytic astrocytoma' SubClassOf 'disease' - 'Pilocytic astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Pilocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' + 'Pilocytic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pilocytic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pilocytic astrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_356847 Label: CD27 molecule - 'CD27 molecule' SubClassOf 'gene' - 'CD27 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' + 'CD27 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD27 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'CD27 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_311350 Label: immediate early response 3 interacting protein 1 - 'immediate early response 3 interacting protein 1' SubClassOf 'gene' - 'immediate early response 3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' + 'immediate early response 3 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immediate early response 3 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12"^^http://www.w3.org/2001/XMLSchema#string + 'immediate early response 3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251618 Label: Subependymal giant cell astrocytoma - 'Subependymal giant cell astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Subependymal giant cell astrocytoma' SubClassOf 'disease' + 'Subependymal giant cell astrocytoma' SubClassOf 'disease' + 'Subependymal giant cell astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_119554 Label: activation-induced cytidine deaminase - 'activation-induced cytidine deaminase' SubClassOf 'gene' - 'activation-induced cytidine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 2' + 'activation-induced cytidine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'activation-induced cytidine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 2' + 'activation-induced cytidine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213589 Label: Malignant mixed epithelial and mesenchymal tumor of the corpus uteri - 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' SubClassOf 'group of disorders' + 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91131 Label: DK1-CDG - 'DK1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'DK1-CDG' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'DK1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'DK1-CDG' SubClassOf 'disease' - 'DK1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'DK1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'DK1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DK1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DK1-CDG' SubClassOf 'disease' + 'DK1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_91132 Label: Ichthyosis-hypotrichosis syndrome - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'disease' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'part_of' some 'Alopecia' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'disease' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_286593 Label: complement factor H-related 3 - 'complement factor H-related 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' - 'complement factor H-related 3' SubClassOf 'gene' + 'complement factor H-related 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' + 'complement factor H-related 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor H-related 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_91130 Label: Cardiomyopathy - hypotonia - lactic acidosis - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' Class: http://www.orpha.net/ORDO/Orphanet_329284 Label: Beta-propeller protein-associated neurodegeneration - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'disease' + 'Beta-propeller protein-associated neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'disease' + 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Beta-propeller protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_285488 Label: ribosomal protein L21 - 'ribosomal protein L21' SubClassOf 'gene' - 'ribosomal protein L21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'ribosomal protein L21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L21' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' Class: http://www.orpha.net/ORDO/Orphanet_90020 Label: Amyotrophic lateral sclerosis-parkinsonism-dementia complex - 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease' + 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281139 Label: Annular epidermolytic ichthyosis - 'Annular epidermolytic ichthyosis' SubClassOf 'disease' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Annular epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Annular epidermolytic ichthyosis' SubClassOf 'disease' + 'Annular epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Annular epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Annular epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_90021 Label: Radiation myelitis - 'Radiation myelitis' SubClassOf 'part_of' some 'Medullar disease' - 'Radiation myelitis' SubClassOf 'disease' + 'Radiation myelitis' SubClassOf 'disease' + 'Radiation myelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_293925 Label: Lethal occipital encephalocele-skeletal dysplasia syndrome - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'malformation syndrome' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'malformation syndrome' + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_90026 Label: Primary erythermalgia - 'Primary erythermalgia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary erythermalgia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary erythermalgia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary erythermalgia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary erythermalgia' SubClassOf 'disease' - 'Primary erythermalgia' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Primary erythermalgia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary erythermalgia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary erythermalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Primary erythermalgia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary erythermalgia' SubClassOf 'disease' + 'Primary erythermalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306558 Label: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_90023 Label: Primary immunodeficiency syndrome due to p14 deficiency - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'disease' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'disease' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_311367 Label: dystonia 21, torsion (autosomal dominant) - 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT21 type' - 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'gene' + 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT21 type' + 'dystonia 21, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.3-q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 21, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_306553 Label: Myospherulosis - 'Myospherulosis' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Myospherulosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Myospherulosis' SubClassOf 'part_of' some 'Rare maxillo-facial surgical disease' - 'Myospherulosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myospherulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Myospherulosis' SubClassOf 'disease' + 'Myospherulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myospherulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Myospherulosis' SubClassOf 'disease' + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare maxillo-facial surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_90025 Label: Syndactyly - 'Syndactyly' SubClassOf 'group of disorders' + 'Syndactyly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90024 Label: Deafness with labyrinthine aplasia, microtia, and microdontia - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'malformation syndrome' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'malformation syndrome' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_91138 Label: Cryoglobulinemic vasculitis - 'Cryoglobulinemic vasculitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryoglobulinemic vasculitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' - 'Cryoglobulinemic vasculitis' SubClassOf 'disease' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Cryoglobulinemic vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251623 Label: Pituicytoma - 'Pituicytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Pituicytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pituicytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pituicytoma' SubClassOf 'disease' + 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' + 'Pituicytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pituicytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pituicytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262905 Label: Partial trisomy of the long arm of chromosome 9 - 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91137 Label: Immunotactoid or fibrillary glomerulopathy - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'group of disorders' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'group of disorders' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119567 Label: adenylate kinase 1 - 'adenylate kinase 1' SubClassOf 'gene' - 'adenylate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to adenylate kinase deficiency' + 'adenylate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'adenylate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to adenylate kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_91139 Label: Simple cryoglobulinemia - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Simple cryoglobulinemia' SubClassOf 'disease' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Simple cryoglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Simple cryoglobulinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119569 Label: aminolevulinate dehydratase - 'aminolevulinate dehydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria due to ALA dehydratase deficiency' - 'aminolevulinate dehydratase' SubClassOf 'gene' + 'aminolevulinate dehydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q32"^^http://www.w3.org/2001/XMLSchema#string + 'aminolevulinate dehydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminolevulinate dehydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria due to ALA dehydratase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_251627 Label: Oligodendroglioma - 'Oligodendroglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Oligodendroglioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oligodendroglioma' SubClassOf 'part_of' some 'Oligodendroglial tumor' - 'Oligodendroglioma' SubClassOf 'disease' + 'Oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligodendroglial tumor' + 'Oligodendroglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Oligodendroglioma' SubClassOf 'disease' + 'Oligodendroglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_91133 Label: Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'malformation syndrome' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'malformation syndrome' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_91136 Label: Monoclonal Ig light chain-associated Fanconi syndrome - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'disease' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'disease' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_325132 Label: mitochondrial ribosomal protein L3 - 'mitochondrial ribosomal protein L3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 9' - 'mitochondrial ribosomal protein L3' SubClassOf 'gene' + 'mitochondrial ribosomal protein L3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21-q23"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein L3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial ribosomal protein L3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 9' Class: http://www.orpha.net/ORDO/Orphanet_91135 Label: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_91140 Label: Unclassified juvenile idiopathic arthritis - 'Unclassified juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Unclassified juvenile idiopathic arthritis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285499 Label: UBA domain containing 2 - 'UBA domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'UBA domain containing 2' SubClassOf 'gene' + 'UBA domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'UBA domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'UBA domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119562 Label: autoimmune regulator - 'autoimmune regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune polyendocrinopathy type 1' - 'autoimmune regulator' SubClassOf 'gene' + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autoimmune polyendocrinopathy type 1' + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251630 Label: Anaplastic oligodendroglioma - 'Anaplastic oligodendroglioma' SubClassOf 'part_of' some 'Oligodendroglial tumor' - 'Anaplastic oligodendroglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Anaplastic oligodendroglioma' SubClassOf 'disease' - 'Anaplastic oligodendroglioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Anaplastic oligodendroglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligodendroglial tumor' + 'Anaplastic oligodendroglioma' SubClassOf 'disease' + 'Anaplastic oligodendroglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_251633 Label: Low grade ependymoma - 'Low grade ependymoma' SubClassOf 'part_of' some 'Ependymal tumor' - 'Low grade ependymoma' SubClassOf 'disease' + 'Low grade ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ependymal tumor' + 'Low grade ependymoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90030 Label: Hemolytic anemia due to glutathione reductase deficiency - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'disease' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_293910 Label: Familial isolated arrhythmogenic ventricular dysplasia, right dominant form - 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' - 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'clinical subtype' + 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399685 Label: Rare male infertility due to testicular endocrine disorder - 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268016 Label: RAB18, member RAS oncogene family - 'RAB18, member RAS oncogene family' SubClassOf 'gene' - 'RAB18, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90031 Label: Non-spherocytic hemolytic anemia due to hexokinase deficiency - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disease' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disease' + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_306550 Label: FADD-related immunodeficiency - 'FADD-related immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'FADD-related immunodeficiency' SubClassOf 'disease' - 'FADD-related immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'FADD-related immunodeficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'FADD-related immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'FADD-related immunodeficiency' SubClassOf 'disease' + 'FADD-related immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'FADD-related immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_90036 Label: Mixed-type autoimmune hemolytic anemia - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'disease' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'disease' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mixed-type autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_90035 Label: Paroxysmal cold hemoglobinuria - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'disease' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia, cold type' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal cold hemoglobinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Paroxysmal cold hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia, cold type' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'disease' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_306522 Label: Familial primary hypomagnesemia with normocalcuria - 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90033 Label: Autoimmune hemolytic anemia, warm type - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'disease' + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'disease' + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune hemolytic anemia, warm type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Autoimmune hemolytic anemia, warm type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_281122 Label: Self-healing collodion baby - 'Self-healing collodion baby' SubClassOf 'disease' - 'Self-healing collodion baby' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Self-healing collodion baby' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Self-healing collodion baby' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Self-healing collodion baby' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Self-healing collodion baby' SubClassOf 'disease' + 'Self-healing collodion baby' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Self-healing collodion baby' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119538 Label: alanine-glyoxylate aminotransferase - 'alanine-glyoxylate aminotransferase' SubClassOf 'gene' - 'alanine-glyoxylate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 1' + 'alanine-glyoxylate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanine-glyoxylate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'alanine-glyoxylate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 1' Class: http://www.orpha.net/ORDO/Orphanet_90039 Label: Hemoglobin D disease - 'Hemoglobin D disease' SubClassOf 'disease' - 'Hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hemoglobin D disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin D disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemoglobin D disease' SubClassOf 'disease' + 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_231242 Label: Hemoglobin C - beta-thalassemia - 'Hemoglobin C - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin C - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin C - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_90038 Label: Typical hemolytic-uremic syndrome - 'Typical hemolytic-uremic syndrome' SubClassOf 'disease' - 'Typical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Rare acquired hemolytic anemia' - 'Typical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Thrombotic microangiopathy' + 'Typical hemolytic-uremic syndrome' SubClassOf 'disease' + 'Typical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Typical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_90037 Label: Drug-induced autoimmune hemolytic anemia - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'disease' + 'Drug-induced autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Drug-induced autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306527 Label: Isolated hereditary congenital facial paralysis - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'part_of' some 'Paralytic facial malformation' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anomaly' + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paralytic facial malformation' + 'Isolated hereditary congenital facial paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' + 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231249 Label: Hemoglobin E - beta-thalassemia - 'Hemoglobin E - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin E - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hemoglobin E - beta-thalassemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_325124 Label: Testicular agenesis - 'Testicular agenesis' SubClassOf 'morphological anomaly' - 'Testicular agenesis' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - 'Testicular agenesis' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' + 'Testicular agenesis' SubClassOf 'morphological anomaly' + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_119535 Label: angiotensinogen (serpin peptidase inhibitor, clade A, member 8) - 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'gene' - 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.2"^^http://www.w3.org/2001/XMLSchema#string + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_90042 Label: Primary familial polycythemia - 'Primary familial polycythemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary familial polycythemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary familial polycythemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary familial polycythemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary familial polycythemia' SubClassOf 'disease' - 'Primary familial polycythemia' SubClassOf 'part_of' some 'Polycythemia' - 'Primary familial polycythemia' SubClassOf 'part_of' some 'Genetic polycythemia' + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polycythemia' + 'Primary familial polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary familial polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary familial polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polycythemia' + 'Primary familial polycythemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_286578 Label: complement factor H-related 1 - 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' - 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' - 'complement factor H-related 1' SubClassOf 'gene' - 'complement factor H-related 1' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' + 'complement factor H-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' + 'complement factor H-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' + 'complement factor H-related 1' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_90041 Label: Gaisb�ck syndrome - 'Gaisb�ck syndrome' SubClassOf 'part_of' some 'Acquired secondary polycythemia' - 'Gaisb�ck syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gaisb�ck syndrome' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Gaisb�ck syndrome' SubClassOf 'disease' - 'Gaisb�ck syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Gaisb�ck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Gaisb�ck syndrome' SubClassOf 'disease' + 'Gaisb�ck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gaisb�ck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_90045 Label: Hereditary folate malabsorption - 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Intestinal disease due to vitamin absorption anomaly' - 'Hereditary folate malabsorption' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary folate malabsorption' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Hereditary folate malabsorption' SubClassOf 'disease' + 'Hereditary folate malabsorption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Hereditary folate malabsorption' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to vitamin absorption anomaly' + 'Hereditary folate malabsorption' SubClassOf 'disease' + 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_306530 Label: Congenital hereditary facial paralysis with variable hearing loss - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anomaly' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'part_of' some 'Paralytic facial malformation' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anomaly' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paralytic facial malformation' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_90044 Label: Familial pseudohyperkalemia - 'Familial pseudohyperkalemia' SubClassOf 'disease' - 'Familial pseudohyperkalemia' SubClassOf 'part_of' some 'Hereditary stomatocytosis' + 'Familial pseudohyperkalemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Familial pseudohyperkalemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119549 Label: Abelson helper integration site 1 - 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'Abelson helper integration site 1' SubClassOf 'gene' + 'Abelson helper integration site 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' + 'Abelson helper integration site 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_325118 Label: 46,XY disorder of gonadal development - '46,XY disorder of gonadal development' SubClassOf 'group of disorders' + '46,XY disorder of gonadal development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306539 Label: Hereditary acrokeratotic poikiloderma of Kindler-Weary - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251607 Label: Pleomorphic xanthoastrocytoma - 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'disease' + 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleomorphic xanthoastrocytoma' SubClassOf 'disease' + 'Pleomorphic xanthoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_119546 Label: adenosylhomocysteinase - 'adenosylhomocysteinase' SubClassOf 'gene' - 'adenosylhomocysteinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' + 'adenosylhomocysteinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosylhomocysteinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' + 'adenosylhomocysteinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251601 Label: Fibrillary astrocytoma - 'Fibrillary astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' - 'Fibrillary astrocytoma' SubClassOf 'histopathological subtype' + 'Fibrillary astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' + 'Fibrillary astrocytoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_251604 Label: Gemistocytic astrocytoma - 'Gemistocytic astrocytoma' SubClassOf 'histopathological subtype' - 'Gemistocytic astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' + 'Gemistocytic astrocytoma' SubClassOf 'histopathological subtype' + 'Gemistocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_282124 Label: Partial deletion of chromosome 12 - 'Partial deletion of chromosome 12' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 12' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_51208 Label: Formiminoglutamic aciduria - 'Formiminoglutamic aciduria' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Formiminoglutamic aciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Formiminoglutamic aciduria' SubClassOf 'disease' - 'Formiminoglutamic aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Formiminoglutamic aciduria' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Formiminoglutamic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Formiminoglutamic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Formiminoglutamic aciduria' SubClassOf 'disease' + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Formiminoglutamic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_90050 Label: Retinopathy of prematurity - 'Retinopathy of prematurity' SubClassOf 'disease' - 'Retinopathy of prematurity' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Retinopathy of prematurity' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Retinopathy of prematurity' SubClassOf 'disease' + 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Retinopathy of prematurity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Retinopathy of prematurity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_84132 Label: Desmin-related myopathy with Mallory body-like inclusions - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'disease' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Qualitative or quantitative defects of selenoprotein N1' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of selenoprotein N1' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320663 Label: coiled-coil domain containing 88C - 'coiled-coil domain containing 88C' SubClassOf 'gene' - 'coiled-coil domain containing 88C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-communicating hydrocephalus' + 'coiled-coil domain containing 88C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.12"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 88C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-communicating hydrocephalus' + 'coiled-coil domain containing 88C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_281127 Label: Acral self-healing collodion baby - 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acral self-healing collodion baby' SubClassOf 'disease' - 'Acral self-healing collodion baby' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Acral self-healing collodion baby' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acral self-healing collodion baby' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acral self-healing collodion baby' SubClassOf 'disease' + 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acral self-healing collodion baby' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_181396 Label: Rare hypothyroidism - 'Rare hypothyroidism' SubClassOf 'group of disorders' + 'Rare hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119513 Label: aspartylglucosaminidase - 'aspartylglucosaminidase' SubClassOf 'gene' - 'aspartylglucosaminidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aspartylglucosaminuria' + 'aspartylglucosaminidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'aspartylglucosaminidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aspartylglucosaminidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aspartylglucosaminuria' Class: http://www.orpha.net/ORDO/Orphanet_329249 Label: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'disease' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181393 Label: Growth hormone insensitivity syndrome - 'Growth hormone insensitivity syndrome' SubClassOf 'group of disorders' + 'Growth hormone insensitivity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268061 Label: kinesin family member 7 - 'kinesin family member 7' SubClassOf 'gene' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Al-Gazali type' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' + 'kinesin family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Al-Gazali type' Class: http://www.orpha.net/ORDO/Orphanet_354069 Label: chromosome 10 open reading frame 11 - 'chromosome 10 open reading frame 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 7' - 'chromosome 10 open reading frame 11' SubClassOf 'gene' + 'chromosome 10 open reading frame 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 7' + 'chromosome 10 open reading frame 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 10 open reading frame 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_181390 Label: Hypogonadotropic hypogonadism associated with other endocrinopathies - 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'group of disorders' + 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306588 Label: Autosomal dominant Opitz G/BBB syndrome - 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Opitz G/BBB syndrome' - 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Opitz G/BBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119516 Label: angiogenic factor with G patch and FHA domains 1 - 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'gene' - 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'Major susceptibility factor in' some 'Klippel-Tr�naunay syndrome' + 'angiogenic factor with G patch and FHA domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'angiogenic factor with G patch and FHA domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'Major susceptibility factor in' some 'Klippel-Tr�naunay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_325109 Label: Syndrome with 46,XX disorder of sex development - 'Syndrome with 46,XX disorder of sex development' SubClassOf 'group of disorders' + 'Syndrome with 46,XX disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90065 Label: Acquired aneurysmal subarachnoid hemorrhage - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'disease' - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_331952 Label: post-GPI attachment to proteins 2 - 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' - 'post-GPI attachment to proteins 2' SubClassOf 'gene' + 'post-GPI attachment to proteins 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'post-GPI attachment to proteins 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90061 Label: Non-infectious posterior uveitis - 'Non-infectious posterior uveitis' SubClassOf 'group of disorders' + 'Non-infectious posterior uveitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-infectious posterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90060 Label: Diffuse alveolar hemorrhage - 'Diffuse alveolar hemorrhage' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Diffuse alveolar hemorrhage' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Diffuse alveolar hemorrhage' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Diffuse alveolar hemorrhage' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Diffuse alveolar hemorrhage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Diffuse alveolar hemorrhage' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_271870 Label: Rare genetic systemic or rheumatologic disease - 'Rare genetic systemic or rheumatologic disease' SubClassOf 'group of disorders' + 'Rare genetic systemic or rheumatologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401764 Label: Pancytopenia-developmental delay syndrome - 'Pancytopenia-developmental delay syndrome' SubClassOf 'disease' - 'Pancytopenia-developmental delay syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' + 'Pancytopenia-developmental delay syndrome' SubClassOf 'disease' + 'Pancytopenia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_401768 Label: Proximal myopathy with extrapyramidal signs - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_329242 Label: Congenital chronic diarrhea with protein-losing enteropathy - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'disease' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'disease' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_119523 Label: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase - 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen debranching enzyme deficiency' - 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'gene' + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen debranching enzyme deficiency' + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119525 Label: 1-acylglycerol-3-phosphate O-acyltransferase 2 - '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' - '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'gene' + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_329235 Label: X-linked central congenital hypothyroidism with late-onset testicular enlargement - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'disease' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'disease' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_213557 Label: Salivary gland type cancer of the breast - 'Salivary gland type cancer of the breast' SubClassOf 'disease' - 'Salivary gland type cancer of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' + 'Salivary gland type cancer of the breast' SubClassOf 'disease' + 'Salivary gland type cancer of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_271853 Label: Genetic cardiac anomaly - 'Genetic cardiac anomaly' SubClassOf 'group of disorders' + 'Genetic cardiac anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331958 Label: EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase - 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'gene' - 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306597 Label: X-linked Opitz G/BBB syndrome - 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' - 'X-linked Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Opitz G/BBB syndrome' + 'X-linked Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Opitz G/BBB syndrome' + 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119528 Label: alkylglycerone phosphate synthase - 'alkylglycerone phosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 3' - 'alkylglycerone phosphate synthase' SubClassOf 'gene' + 'alkylglycerone phosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q"^^http://www.w3.org/2001/XMLSchema#string + 'alkylglycerone phosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 3' + 'alkylglycerone phosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90068 Label: Cocaine poisoning - 'Cocaine poisoning' SubClassOf 'disease' - 'Cocaine poisoning' SubClassOf 'part_of' some 'Rare intoxication' + 'Cocaine poisoning' SubClassOf 'disease' + 'Cocaine poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_90069 Label: Systemic monochloroacetate poisoning - 'Systemic monochloroacetate poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Systemic monochloroacetate poisoning' SubClassOf 'disease' + 'Systemic monochloroacetate poisoning' SubClassOf 'disease' + 'Systemic monochloroacetate poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_281103 Label: Keratinopathic ichthyosis - 'Keratinopathic ichthyosis' SubClassOf 'group of disorders' + 'Keratinopathic ichthyosis' SubClassOf 'group of disorders' + 'Keratinopathic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Keratinopathic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_401771 Label: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'gene' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to IKK2 deficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe combined immunodeficiency due to IKK2 deficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90070 Label: Methotrexate poisoning - 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Methotrexate poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Methotrexate poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' + 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Methotrexate poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Methotrexate poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_271861 Label: Familial transthyretin-related amyloidosis - 'Familial transthyretin-related amyloidosis' SubClassOf 'group of disorders' + 'Familial transthyretin-related amyloidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268052 Label: histidyl-tRNA synthetase 2, mitochondrial - 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' - 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_316081 Label: POC1 centriolar protein A - 'POC1 centriolar protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' - 'POC1 centriolar protein A' SubClassOf 'gene' + 'POC1 centriolar protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' + 'POC1 centriolar protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POC1 centriolar protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401777 Label: Optic atrophy-intellectual disability syndrome - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic optic atrophy' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'disease' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic optic atrophy' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'disease' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_181399 Label: Rare hyperthyroidism - 'Rare hyperthyroidism' SubClassOf 'group of disorders' + 'Rare hyperthyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181371 Label: Rare diabetes mellitus type 1 - 'Rare diabetes mellitus type 1' SubClassOf 'group of disorders' + 'Rare diabetes mellitus type 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91144 Label: 46,XX disorder of sex development induced by maternal-derived androgen - '46,XX disorder of sex development induced by maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315478 Label: interferon regulatory factor 8 - 'interferon regulatory factor 8' SubClassOf 'gene' - 'interferon regulatory factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' + 'interferon regulatory factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'interferon regulatory factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon regulatory factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_213569 Label: Rare cancer of the corpus uteri - 'Rare cancer of the corpus uteri' SubClassOf 'group of disorders' + 'Rare cancer of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181376 Label: Rare diabetes mellitus type 2 - 'Rare diabetes mellitus type 2' SubClassOf 'group of disorders' + 'Rare diabetes mellitus type 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331967 Label: caseinolytic mitochondrial matrix peptidase proteolytic subunit - 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'gene' - 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_33069 Label: Dravet syndrome - 'Dravet syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Dravet syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dravet syndrome' SubClassOf 'part_of' some 'Channelopathy with epilepsy' - 'Dravet syndrome' SubClassOf 'disease' - 'Dravet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Channelopathy with epilepsy' + 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dravet syndrome' SubClassOf 'disease' + 'Dravet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Dravet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dravet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90077 Label: Other acquired skin disease - 'Other acquired skin disease' SubClassOf 'group of disorders' + 'Other acquired skin disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33067 Label: Metaphyseal chondrodysplasia, Jansen type - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_271847 Label: Genetic endocrine tumor - 'Genetic endocrine tumor' SubClassOf 'group of disorders' + 'Genetic endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_48104 Label: Pyoderma gangrenosum - 'Pyoderma gangrenosum' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyoderma gangrenosum' SubClassOf 'disease' - 'Pyoderma gangrenosum' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pyoderma gangrenosum' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Pyoderma gangrenosum' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Pyoderma gangrenosum' SubClassOf 'disease' + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Pyoderma gangrenosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Pyoderma gangrenosum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pyoderma gangrenosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pyoderma gangrenosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_271841 Label: Genetic cardiac tumor - 'Genetic cardiac tumor' SubClassOf 'group of disorders' + 'Genetic cardiac tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_271844 Label: Genetic urogenital tumor - 'Genetic urogenital tumor' SubClassOf 'group of disorders' + 'Genetic urogenital tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213564 Label: Rare uterine cancer - 'Rare uterine cancer' SubClassOf 'group of disorders' + 'Rare uterine cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331972 Label: leucyl-tRNA synthetase 2, mitochondrial - 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' - 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_306561 Label: Autosomal dominant childhood-onset cortical cataract - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'clinical subtype' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_156159 Label: Isolated dystonia - 'Isolated dystonia' SubClassOf 'group of disorders' + 'Isolated dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268049 Label: mucin 5B, oligomeric mucus/gel-forming - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'gene' - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' Class: http://www.orpha.net/ORDO/Orphanet_181368 Label: Insulin-resistance syndrome - 'Insulin-resistance syndrome' SubClassOf 'group of disorders' + 'Insulin-resistance syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315470 Label: ISG15 ubiquitin-like modifier - 'ISG15 ubiquitin-like modifier' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' - 'ISG15 ubiquitin-like modifier' SubClassOf 'gene' + 'ISG15 ubiquitin-like modifier' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ISG15 ubiquitin-like modifier' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'ISG15 ubiquitin-like modifier' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_156156 Label: Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy - 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_156152 Label: Anti-neutrophil cytoplasmic antibody-associated vasculitis - 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'group of disorders' + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181381 Label: Other rare diabetes mellitus - 'Other rare diabetes mellitus' SubClassOf 'group of disorders' + 'Other rare diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_52662 Label: Rare teratologic disease - 'Rare teratologic disease' SubClassOf 'group of disorders' + 'Rare teratologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329258 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2Q - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_181384 Label: Rare hypothalamic or pituitary disease - 'Rare hypothalamic or pituitary disease' SubClassOf 'group of disorders' + 'Rare hypothalamic or pituitary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119502 Label: adenosine deaminase, RNA-specific - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' - 'adenosine deaminase, RNA-specific' SubClassOf 'gene' - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis symmetrica hereditaria' + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial infantile bilateral striatal necrosis' + 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis symmetrica hereditaria' Class: http://www.orpha.net/ORDO/Orphanet_181387 Label: Rare disorder with hypogonadotropic hypogonadism - 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306577 Label: Sodium channelopathy-related small fiber neuropathy - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119507 Label: adenylosuccinate lyase - 'adenylosuccinate lyase' SubClassOf 'gene' - 'adenylosuccinate lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenylosuccinate lyase deficiency' + 'adenylosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'adenylosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylosuccinate lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenylosuccinate lyase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_331979 Label: potassium channel tetramerization domain containing 1 - 'potassium channel tetramerization domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scalp-ear-nipple syndrome' - 'potassium channel tetramerization domain containing 1' SubClassOf 'gene' + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Scalp-ear-nipple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_271835 Label: Genetic digestive tract tumor - 'Genetic digestive tract tumor' SubClassOf 'group of disorders' + 'Genetic digestive tract tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_271832 Label: Genetic soft tissue tumor - 'Genetic soft tissue tumor' SubClassOf 'group of disorders' + 'Genetic soft tissue tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119509 Label: AF4/FMR2 family, member 2 - 'AF4/FMR2 family, member 2' SubClassOf 'gene' - 'AF4/FMR2 family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' + 'AF4/FMR2 family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'AF4/FMR2 family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'AF4/FMR2 family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_160311 Label: muscle, skeletal, receptor tyrosine kinase - 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'gene' - 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.3-q32"^^http://www.w3.org/2001/XMLSchema#string + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_213574 Label: Rare adenocarcinoma of the corpus uteri - 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' - 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'disease' + 'Rare adenocarcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' + 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_395106 Label: STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase - 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' - 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'gene' + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cerebellar ataxia - hypogonadism' + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156149 Label: Immune complex mediated vasculitis - 'Immune complex mediated vasculitis' SubClassOf 'group of disorders' + 'Immune complex mediated vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160307 Label: mitochondrially encoded tRNA tryptophan - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'gene' + 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA tryptophan' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded tRNA tryptophan' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_156146 Label: Predominantly small-vessel vasculitis - 'Predominantly small-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly small-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329255 Label: Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease' + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329252 Label: Spondylocostal dysostosis - hypospadias - intellectual disability - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'disease' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'disease' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_156143 Label: Predominantly medium-vessel vasculitis - 'Predominantly medium-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly medium-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156140 Label: Predominantly large-vessel vasculitis - 'Predominantly large-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly large-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401757 Label: CoA synthase - 'CoA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'COASY protein-associated neurodegeneration' - 'CoA synthase' SubClassOf 'gene' + 'CoA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'COASY protein-associated neurodegeneration' + 'CoA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12-q21"^^http://www.w3.org/2001/XMLSchema#string + 'CoA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118140 Label: parathyroid hormone 1 receptor - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia, Blomstrand type' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Enchondromatosis' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Eiken syndrome' - 'parathyroid hormone 1 receptor' SubClassOf 'gene' - 'parathyroid hormone 1 receptor' SubClassOf 'Candidate gene tested in' some 'Dental ankylosis' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Jansen type' + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia, Blomstrand type' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22-p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Eiken syndrome' + 'parathyroid hormone 1 receptor' SubClassOf 'Candidate gene tested in' some 'Dental ankylosis' + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Jansen type' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Enchondromatosis' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183924 Label: mitochondrially encoded tRNA leucine 2 (CUN) - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'gene' - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Endomyocardial fibroelastosis' + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254892 Label: Autosomal dominant progressive external ophthalmoplegia - 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1053 Label: Vein of Galen aneurysm - 'Vein of Galen aneurysm' SubClassOf 'has_prevalence' some 'Unknown' - 'Vein of Galen aneurysm' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vein of Galen aneurysm' SubClassOf 'has_inheritance' some 'sporadic' - 'Vein of Galen aneurysm' SubClassOf 'morphological anomaly' + 'Vein of Galen aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vein of Galen aneurysm' SubClassOf 'morphological anomaly' + 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Vein of Galen aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_118143 Label: protein tyrosine phosphatase, non-receptor type 11 - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachondromatosis' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'gene' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metachondromatosis' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1054 Label: Aneurysm of sinus of Valsalva - 'Aneurysm of sinus of Valsalva' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aneurysm of sinus of Valsalva' SubClassOf 'has_prevalence' some 'Unknown' - 'Aneurysm of sinus of Valsalva' SubClassOf 'morphological anomaly' - 'Aneurysm of sinus of Valsalva' SubClassOf 'part_of' some 'Ascending aorta anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Aneurysm of sinus of Valsalva' SubClassOf 'morphological anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_398147 Label: Persistent idiopathic facial pain - 'Persistent idiopathic facial pain' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Persistent idiopathic facial pain' SubClassOf 'disease' + 'Persistent idiopathic facial pain' SubClassOf 'disease' + 'Persistent idiopathic facial pain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1051 Label: Corneal anesthesia - deafness - intellectual disability - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'malformation syndrome' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1052 Label: Mosaic variegated aneuploidy syndrome - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'malformation syndrome' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mosaic variegated aneuploidy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163988 Label: Developmental delay - deafness, Hildebrand type - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'malformation syndrome' + 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Developmental delay - deafness, Hildebrand type' SubClassOf 'malformation syndrome' + 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Developmental delay - deafness, Hildebrand type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141214 Label: Congenital syngnathia - 'Congenital syngnathia' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Congenital syngnathia' SubClassOf 'malformation syndrome' + 'Congenital syngnathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Congenital syngnathia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254898 Label: Deafness - encephaloneuropathy - obesity - valvulopathy - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1059 Label: Blue rubber bleb nevus - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Blue rubber bleb nevus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Skin vascular disease' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Blue rubber bleb nevus' SubClassOf 'has_prevalence' some 'Unknown' - 'Blue rubber bleb nevus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blue rubber bleb nevus' SubClassOf 'malformation syndrome' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Venous malformation' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Blue rubber bleb nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blue rubber bleb nevus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blue rubber bleb nevus' SubClassOf 'malformation syndrome' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_183928 Label: nucleoporin 155kDa - 'nucleoporin 155kDa' SubClassOf 'gene' - 'nucleoporin 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138543 Label: spermine synthase - 'spermine synthase' SubClassOf 'gene' - 'spermine synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Snyder type' + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked intellectual disability, Snyder type' Class: http://www.orpha.net/ORDO/Orphanet_289825 Label: Late-onset primary lymphedema - 'Late-onset primary lymphedema' SubClassOf 'group of disorders' + 'Late-onset primary lymphedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141209 Label: Diffuse lymphatic malformation - 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Diffuse lymphatic malformation' SubClassOf 'part_of' some 'Macrocystic lymphatic malformation' - 'Diffuse lymphatic malformation' SubClassOf 'clinical subtype' + 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diffuse lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrocystic lymphatic malformation' + 'Diffuse lymphatic malformation' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_357453 Label: tropomyosin 4 - 'tropomyosin 4' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'tropomyosin 4' SubClassOf 'gene' + 'tropomyosin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'tropomyosin 4' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'tropomyosin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_34217 Label: Naxos disease - 'Naxos disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Naxos disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Naxos disease' SubClassOf 'part_of' some 'Arrhythmogenic right ventricular dysplasia' - 'Naxos disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Naxos disease' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Naxos disease' SubClassOf 'disease' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arrhythmogenic right ventricular dysplasia' + 'Naxos disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Naxos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Naxos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Naxos disease' SubClassOf 'disease' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_304486 Label: diaphanous-related formin 3 - 'diaphanous-related formin 3' SubClassOf 'gene' - 'diaphanous-related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diaphanous-related formin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'diaphanous-related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_40366 Label: Acitretin embryofetopathy - 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acitretin embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Acitretin embryofetopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acitretin embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acitretin embryofetopathy' SubClassOf 'disease' + 'Acitretin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Acitretin embryofetopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acitretin embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acitretin embryofetopathy' SubClassOf 'disease' + 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183933 Label: wingless-type MMTV integration site family, member 10B - 'wingless-type MMTV integration site family, member 10B' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'wingless-type MMTV integration site family, member 10B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'wingless-type MMTV integration site family, member 10B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138557 Label: VANGL planar cell polarity protein 1 - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Caudal regression sequence' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'gene' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Familial caudal dysgenesis' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Caudal regression sequence' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Familial caudal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_400687 Label: kizuna centrosomal protein - 'kizuna centrosomal protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'kizuna centrosomal protein' SubClassOf 'gene' + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118151 Label: protein tyrosine phosphatase, receptor type, C - 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'gene' - 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD45 deficiency' + 'protein tyrosine phosphatase, receptor type, C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD45 deficiency' + 'protein tyrosine phosphatase, receptor type, C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1044 Label: Anemia due to adenosine triphosphatase deficiency - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1040 Label: Metaphyseal anadysplasia - 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal anadysplasia' SubClassOf 'disease' - 'Metaphyseal anadysplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal anadysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal anadysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal anadysplasia' SubClassOf 'disease' + 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal anadysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1041 Label: Hydrops fetalis - 'Hydrops fetalis' SubClassOf 'part_of' some 'Rare developmental defect during embryogenesis' - 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrops fetalis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hydrops fetalis' SubClassOf 'malformation syndrome' - 'Hydrops fetalis' SubClassOf 'has_inheritance' some 'sporadic' + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "380.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "134.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrops fetalis' SubClassOf 'malformation syndrome' + 'Hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare developmental defect during embryogenesis' + 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrops fetalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "180.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99098 Label: Cor triatriatum dexter - 'Cor triatriatum dexter' SubClassOf 'morphological anomaly' - 'Cor triatriatum dexter' SubClassOf 'part_of' some 'Triatrial heart' + 'Cor triatriatum dexter' SubClassOf 'morphological anomaly' + 'Cor triatriatum dexter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Triatrial heart' Class: http://www.orpha.net/ORDO/Orphanet_398156 Label: Oculoauriculofrontonasal syndrome - 'Oculoauriculofrontonasal syndrome' SubClassOf 'malformation syndrome' - 'Oculoauriculofrontonasal syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Oculoauriculofrontonasal syndrome' SubClassOf 'malformation syndrome' + 'Oculoauriculofrontonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99099 Label: Cor triatriatum sinister - 'Cor triatriatum sinister' SubClassOf 'part_of' some 'Triatrial heart' - 'Cor triatriatum sinister' SubClassOf 'morphological anomaly' + 'Cor triatriatum sinister' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Triatrial heart' + 'Cor triatriatum sinister' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289832 Label: Disorder of lysine and hydroxylysine metabolism - 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of disorders' + 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99096 Label: Multiple ventricular septal defects - 'Multiple ventricular septal defects' SubClassOf 'morphological anomaly' - 'Multiple ventricular septal defects' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Multiple ventricular septal defects' SubClassOf 'morphological anomaly' + 'Multiple ventricular septal defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99097 Label: Single ventricular septal defect - 'Single ventricular septal defect' SubClassOf 'morphological anomaly' - 'Single ventricular septal defect' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Single ventricular septal defect' SubClassOf 'morphological anomaly' + 'Single ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99094 Label: Laubry-Pezzi syndrome - 'Laubry-Pezzi syndrome' SubClassOf 'morphological anomaly' - 'Laubry-Pezzi syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laubry-Pezzi syndrome' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Laubry-Pezzi syndrome' SubClassOf 'morphological anomaly' + 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laubry-Pezzi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1046 Label: Lethal hemolytic anemia - genital anomalies - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'malformation syndrome' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'malformation syndrome' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_99095 Label: Gerbode defect - 'Gerbode defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Gerbode defect' SubClassOf 'morphological anomaly' - 'Gerbode defect' SubClassOf 'part_of' some 'Ventricular septal defect' - 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Gerbode defect' SubClassOf 'morphological anomaly' + 'Gerbode defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1047 Label: Sideroblastic anemia - 'Sideroblastic anemia' SubClassOf 'group of disorders' + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Sideroblastic anemia' SubClassOf 'group of disorders' + 'Sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_183938 Label: dynein, cytoplasmic 2, heavy chain 1 - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'gene' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21-q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' Class: http://www.orpha.net/ORDO/Orphanet_99092 Label: Interventricular septum aneurysm - 'Interventricular septum aneurysm' SubClassOf 'morphological anomaly' - 'Interventricular septum aneurysm' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Interventricular septum aneurysm' SubClassOf 'morphological anomaly' + 'Interventricular septum aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1048 Label: Isolated anencephaly/exencephaly - 'Isolated anencephaly/exencephaly' SubClassOf 'morphological anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Neural tube closure defect' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "210.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "58.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'morphological anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "120.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_289829 Label: Disorder of tryptophan metabolism - 'Disorder of tryptophan metabolism' SubClassOf 'group of disorders' + 'Disorder of tryptophan metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99090 Label: Malposition of the coronary ostium - 'Malposition of the coronary ostium' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Malposition of the coronary ostium' SubClassOf 'morphological anomaly' + 'Malposition of the coronary ostium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Malposition of the coronary ostium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141219 Label: Nasal dorsum fistula/cyst - 'Nasal dorsum fistula/cyst' SubClassOf 'morphological anomaly' - 'Nasal dorsum fistula/cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dorsum fistula/cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dorsum fistula/cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_118157 Label: 6-pyruvoyltetrahydropterin synthase - '6-pyruvoyltetrahydropterin synthase' SubClassOf 'gene' - '6-pyruvoyltetrahydropterin synthase' SubClassOf 'Disease-causing germline mutation(s) in' some '6-pyruvoyl-tetrahydropterin synthase deficiency' + '6-pyruvoyltetrahydropterin synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '6-pyruvoyltetrahydropterin synthase' SubClassOf 'Disease-causing germline mutation(s) in' some '6-pyruvoyl-tetrahydropterin synthase deficiency' + '6-pyruvoyltetrahydropterin synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_47044 Label: Familial papillary renal cell carcinoma - 'Familial papillary renal cell carcinoma' SubClassOf 'disease' - 'Familial papillary renal cell carcinoma' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Familial papillary renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial papillary renal cell carcinoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial papillary renal cell carcinoma' SubClassOf 'part_of' some 'Familial renal cell carcinoma' + 'Familial papillary renal cell carcinoma' SubClassOf 'disease' + 'Familial papillary renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Familial papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Familial papillary renal cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_47045 Label: Familial cold urticaria - 'Familial cold urticaria' SubClassOf 'disease' - 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Genetic urticaria' - 'Familial cold urticaria' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Rare urticaria' - 'Familial cold urticaria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' + 'Familial cold urticaria' SubClassOf 'disease' + 'Familial cold urticaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryopyrin-associated periodic syndrome' + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_99089 Label: Abnormal number of coronary ostia - 'Abnormal number of coronary ostia' SubClassOf 'morphological anomaly' - 'Abnormal number of coronary ostia' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Abnormal number of coronary ostia' SubClassOf 'morphological anomaly' + 'Abnormal number of coronary ostia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_251688 Label: retinitis pigmentosa 1-like 1 - 'retinitis pigmentosa 1-like 1' SubClassOf 'gene' - 'retinitis pigmentosa 1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occult macular dystrophy' + 'retinitis pigmentosa 1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa 1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinitis pigmentosa 1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occult macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_282196 Label: Autoimmune polyendocrinopathy - 'Autoimmune polyendocrinopathy' SubClassOf 'group of disorders' + 'Autoimmune polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138526 Label: stimulated by retinoic acid 6 - 'stimulated by retinoic acid 6' SubClassOf 'gene' - 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' - 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'stimulated by retinoic acid 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' + 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'stimulated by retinoic acid 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1034 Label: Amniotic bands - 'Amniotic bands' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amniotic bands' SubClassOf 'group of disorders' - 'Amniotic bands' SubClassOf 'has_inheritance' some 'sporadic' - 'Amniotic bands' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amniotic bands' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amniotic bands' SubClassOf 'group of disorders' + 'Amniotic bands' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1031 Label: Amelogenesis imperfecta - nephrocalcinosis - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'malformation syndrome' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'malformation syndrome' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_118121 Label: patched 1 - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'patched 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 9q22.3' - 'patched 1' SubClassOf 'gene' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'patched 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 9q22.3' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'patched 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'patched 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.1-q31"^^http://www.w3.org/2001/XMLSchema#string + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1032 Label: Hyperdibasic aminoaciduria type 1 - 'Hyperdibasic aminoaciduria type 1' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' + 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' + 'Hyperdibasic aminoaciduria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_251683 Label: poliovirus receptor-related 4 - 'poliovirus receptor-related 4' SubClassOf 'gene' - 'poliovirus receptor-related 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ectodermal dysplasia - syndactyly syndrome' + 'poliovirus receptor-related 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'poliovirus receptor-related 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'poliovirus receptor-related 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ectodermal dysplasia - syndactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268087 Label: dynein, axonemal, light chain 1 - 'dynein, axonemal, light chain 1' SubClassOf 'gene' - 'dynein, axonemal, light chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, light chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, light chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, light chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_99081 Label: Right aortic arch - 'Right aortic arch' SubClassOf 'morphological anomaly' - 'Right aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' + 'Right aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Right aortic arch' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_138523 Label: signal transducer and activator of transcription 3 (acute-phase response factor) - 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'gene' - 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome' + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1037 Label: Arthrogryposis multiplex congenita - 'Arthrogryposis multiplex congenita' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'sporadic' - 'Arthrogryposis multiplex congenita' SubClassOf 'group of disorders' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Arthrogryposis multiplex congenita' SubClassOf 'group of disorders' + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99082 Label: Dysphagia lusoria - 'Dysphagia lusoria' SubClassOf 'part_of' some 'Aortic arch defects' - 'Dysphagia lusoria' SubClassOf 'morphological anomaly' + 'Dysphagia lusoria' SubClassOf 'morphological anomaly' + 'Dysphagia lusoria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_401785 Label: Autosomal recessive spastic paraplegia type 62 - 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 62' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183907 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99083 Label: Pulmonary artery hypoplasia - 'Pulmonary artery hypoplasia' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary artery hypoplasia' SubClassOf 'morphological anomaly' + 'Pulmonary artery hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Pulmonary artery hypoplasia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1035 Label: Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'disease' - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_254871 Label: Mitochondrial DNA depletion syndrome, hepatocerebral form - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of disorders' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99084 Label: Pulmonary branch stenosis - 'Pulmonary branch stenosis' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary branch stenosis' SubClassOf 'morphological anomaly' + 'Pulmonary branch stenosis' SubClassOf 'morphological anomaly' + 'Pulmonary branch stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99085 Label: Coronary artery intramyocardial course - 'Coronary artery intramyocardial course' SubClassOf 'morphological anomaly' - 'Coronary artery intramyocardial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Coronary artery intramyocardial course' SubClassOf 'morphological anomaly' + 'Coronary artery intramyocardial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99086 Label: Aortopulmonary coronary arterial course - 'Aortopulmonary coronary arterial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Aortopulmonary coronary arterial course' SubClassOf 'morphological anomaly' + 'Aortopulmonary coronary arterial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Aortopulmonary coronary arterial course' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_293987 Label: Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'disease' + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141234 Label: Median facial cleft - 'Median facial cleft' SubClassOf 'group of disorders' + 'Median facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99087 Label: Stenosis or atrophy of the coronary ostium - 'Stenosis or atrophy of the coronary ostium' SubClassOf 'morphological anomaly' - 'Stenosis or atrophy of the coronary ostium' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Stenosis or atrophy of the coronary ostium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Stenosis or atrophy of the coronary ostium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401780 Label: Autosomal recessive spastic paraplegia type 61 - 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 61' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254875 Label: Mitochondrial DNA depletion syndrome, myopathic form - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99088 Label: Intramural coronary arterial course - 'Intramural coronary arterial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Intramural coronary arterial course' SubClassOf 'morphological anomaly' + 'Intramural coronary arterial course' SubClassOf 'morphological anomaly' + 'Intramural coronary arterial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_398166 Label: Focal facial dermal dysplasia - 'Focal facial dermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' + 'Focal facial dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Focal facial dermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141229 Label: Facial cleft - 'Facial cleft' SubClassOf 'group of disorders' + 'Facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86918 Label: Diffuse palmoplantar keratoderma-acrocyanosis syndrome - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86917 Label: Lymphedema - cleft palate - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - cleft palate' SubClassOf 'malformation syndrome' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lymphedema - cleft palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86919 Label: Keratosis palmaris et plantaris - clinodactyly - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_86914 Label: Lymphedema - cerebral arteriovenous anomaly - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'malformation syndrome' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'malformation syndrome' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86913 Label: Myoclonic epilepsy in non-progressive encephalopathies - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'malformation syndrome' - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'malformation syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329228 Label: Microcephalic primordial dwarfism due to ZNF335 deficiency - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86915 Label: Lymphedema - atrial septal defects - facial changes - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'malformation syndrome' + 'Lymphedema - atrial septal defects - facial changes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118126 Label: patched 2 - 'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' - 'patched 2' SubClassOf 'gene' + 'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' + 'patched 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'patched 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251679 Label: Astroblastoma - 'Astroblastoma' SubClassOf 'disease' - 'Astroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Astroblastoma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Astroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Astroblastoma' SubClassOf 'disease' + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Astroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Astroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' Class: http://www.orpha.net/ORDO/Orphanet_329224 Label: Intellectual disability - craniofacial dysmorphism - cryptorchidism - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'malformation syndrome' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'malformation syndrome' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_86911 Label: Epilepsy with myoclonic absences - 'Epilepsy with myoclonic absences' SubClassOf 'part_of' some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Epilepsy with myoclonic absences' SubClassOf 'disease' - 'Epilepsy with myoclonic absences' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Epilepsy with myoclonic absences' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118128 Label: phosphatase and tensin homolog - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-autism syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' - 'phosphatase and tensin homolog' SubClassOf 'gene' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bannayan-Riley-Ruvalcaba syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lhermitte-Duclos disease' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus-like syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-autism syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bannayan-Riley-Ruvalcaba syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lhermitte-Duclos disease' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cowden syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus-like syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99078 Label: Neuhauser anomaly - 'Neuhauser anomaly' SubClassOf 'part_of' some 'Aortic arch defects' - 'Neuhauser anomaly' SubClassOf 'morphological anomaly' + 'Neuhauser anomaly' SubClassOf 'morphological anomaly' + 'Neuhauser anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99079 Label: Cervical aortic arch - 'Cervical aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Cervical aortic arch' SubClassOf 'morphological anomaly' + 'Cervical aortic arch' SubClassOf 'morphological anomaly' + 'Cervical aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_329211 Label: Autosomal dominant neovascular inflammatory vitreoretinopathy - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'disease' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1020 Label: Early-onset autosomal dominant Alzheimer disease - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1021 Label: Amaurosis - hypertrichosis - 'Amaurosis - hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amaurosis - hypertrichosis' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Amaurosis - hypertrichosis' SubClassOf 'disease' - 'Amaurosis - hypertrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amaurosis - hypertrichosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Amaurosis - hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amaurosis - hypertrichosis' SubClassOf 'disease' + 'Amaurosis - hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Amaurosis - hypertrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amaurosis - hypertrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183913 Label: endothelial PAS domain protein 1 - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple paragangliomas associated with polycythemia' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic secreting paraganglioma' - 'endothelial PAS domain protein 1' SubClassOf 'gene' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic pheochromocytoma' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple paragangliomas associated with polycythemia' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic secreting paraganglioma' + 'endothelial PAS domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21-p16"^^http://www.w3.org/2001/XMLSchema#string + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic pheochromocytoma' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' + 'endothelial PAS domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1023 Label: Congenital generalized hypertrichosis, Ambras type - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'clinical subtype' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'part_of' some 'Hypertrichosis lanuginosa congenita' + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'clinical subtype' + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis lanuginosa congenita' Class: http://www.orpha.net/ORDO/Orphanet_254881 Label: Spinocerebellar ataxia with epilepsy - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'part_of' some 'Ataxia neuropathy spectrum' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinocerebellar ataxia with epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ataxia neuropathy spectrum' + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99072 Label: Congenital patent ductus arteriosus aneurysm - 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'part_of' some 'Arterial duct anomaly' - 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'morphological anomaly' + 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'morphological anomaly' + 'Congenital patent ductus arteriosus aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arterial duct anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401795 Label: Autosomal recessive spastic paraplegia type 59 - 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 59' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_398173 Label: Focal facial dermal dysplasia type II - 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia type II' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' - 'Focal facial dermal dysplasia type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia type II' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_293978 Label: Deficiency in anterior pituitary function-variable immunodeficiency syndrome - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'disease' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'disease' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99070 Label: Aorto-right ventricular tunnel - 'Aorto-right ventricular tunnel' SubClassOf 'part_of' some 'Aorto-ventricular tunnel' - 'Aorto-right ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-right ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-right ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_141242 Label: Paramedian nasal cleft - 'Paramedian nasal cleft' SubClassOf 'morphological anomaly' - 'Paramedian nasal cleft' SubClassOf 'part_of' some 'Paramedian facial cleft' + 'Paramedian nasal cleft' SubClassOf 'morphological anomaly' + 'Paramedian nasal cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paramedian facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_99071 Label: Aorto-left ventricular tunnel - 'Aorto-left ventricular tunnel' SubClassOf 'part_of' some 'Aorto-ventricular tunnel' - 'Aorto-left ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-left ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-left ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_138533 Label: angiotensin II receptor, type 1 - 'angiotensin II receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' - 'angiotensin II receptor, type 1' SubClassOf 'gene' + 'angiotensin II receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'angiotensin II receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'angiotensin II receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1027 Label: Autosomal recessive amelia - 'Autosomal recessive amelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive amelia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' - 'Autosomal recessive amelia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Autosomal recessive amelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive amelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive amelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' + 'Autosomal recessive amelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Autosomal recessive amelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99076 Label: Persistent fifth aortic arch - 'Persistent fifth aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Persistent fifth aortic arch' SubClassOf 'morphological anomaly' + 'Persistent fifth aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Persistent fifth aortic arch' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1028 Label: Amelo-onycho-hypohidrotic syndrome - 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'malformation syndrome' - 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Amelo-onycho-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254886 Label: Autosomal recessive progressive external ophthalmoplegia - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99077 Label: Kommerell diverticulum - 'Kommerell diverticulum' SubClassOf 'morphological anomaly' - 'Kommerell diverticulum' SubClassOf 'part_of' some 'Aortic arch defects' + 'Kommerell diverticulum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Kommerell diverticulum' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_138530 Label: renin - 'renin' SubClassOf 'gene' - 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia - anemia - renal failure' - 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'renin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'renin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia - anemia - renal failure' + 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_99075 Label: Encircling double aortic arch - 'Encircling double aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Encircling double aortic arch' SubClassOf 'morphological anomaly' + 'Encircling double aortic arch' SubClassOf 'morphological anomaly' + 'Encircling double aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_141239 Label: Median cleft of the upper lip and maxilla - 'Median cleft of the upper lip and maxilla' SubClassOf 'part_of' some 'Median facial cleft' - 'Median cleft of the upper lip and maxilla' SubClassOf 'morphological anomaly' + 'Median cleft of the upper lip and maxilla' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Median cleft of the upper lip and maxilla' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_329217 Label: Cerebral sinovenous thrombosis - 'Cerebral sinovenous thrombosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebral sinovenous thrombosis' SubClassOf 'disease' - 'Cerebral sinovenous thrombosis' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Cerebral sinovenous thrombosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cerebral sinovenous thrombosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebral sinovenous thrombosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebral sinovenous thrombosis' SubClassOf 'disease' + 'Cerebral sinovenous thrombosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_118135 Label: pancreas specific transcription factor, 1a - 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' - 'pancreas specific transcription factor, 1a' SubClassOf 'gene' - 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.31"^^http://www.w3.org/2001/XMLSchema#string + 'pancreas specific transcription factor, 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268073 Label: uroplakin 3A - 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'uroplakin 3A' SubClassOf 'gene' + 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'uroplakin 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.31"^^http://www.w3.org/2001/XMLSchema#string + 'uroplakin 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_86923 Label: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118138 Label: parathyroid hormone - 'parathyroid hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' - 'parathyroid hormone' SubClassOf 'gene' + 'parathyroid hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' + 'parathyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'parathyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.3-p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_86920 Label: Dermatopathia pigmentosa reticularis - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'disease' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf 'disease' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293964 Label: Hypoinsulinemic hypoglycemia and body hemihypertrophy - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Rare endocrine disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Rare genetic endocrine disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare endocrine disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic endocrine disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1018 Label: X-linked diffuse leiomyomatosis - Alport syndrome - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'disease' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome X' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome X' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'disease' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_138583 Label: PHD finger protein 8 - 'PHD finger protein 8' SubClassOf 'gene' - 'PHD finger protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Siderius type' + 'PHD finger protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PHD finger protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string + 'PHD finger protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Siderius type' Class: http://www.orpha.net/ORDO/Orphanet_293967 Label: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1014 Label: Alopecia - intellectual disability - hypergonadotropic hypogonadism - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'disease' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Alopecia' + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'disease' + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_400633 Label: centrosomal protein 19kDa - 'centrosomal protein 19kDa' SubClassOf 'gene' - 'centrosomal protein 19kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to CEP19 deficiency' + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Obesity due to CEP19 deficiency' + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319287 Label: Multilocular cystic renal cell carcinoma - 'Multilocular cystic renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Multilocular cystic renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118184 Label: quinoid dihydropteridine reductase - 'quinoid dihydropteridine reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropteridine reductase deficiency' - 'quinoid dihydropteridine reductase' SubClassOf 'gene' + 'quinoid dihydropteridine reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.31"^^http://www.w3.org/2001/XMLSchema#string + 'quinoid dihydropteridine reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropteridine reductase deficiency' + 'quinoid dihydropteridine reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1010 Label: Autosomal dominant palmoplantar keratoderma and congenital alopecia - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_398109 Label: Neonatal autoimmune hemolytic anemia - 'Neonatal autoimmune hemolytic anemia' SubClassOf 'disease' - 'Neonatal autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal autoimmune hemolytic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251663 Label: Anaplastic oligoastrocytoma - 'Anaplastic oligoastrocytoma' SubClassOf 'part_of' some 'Oligoastrocytic tumor' - 'Anaplastic oligoastrocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Anaplastic oligoastrocytoma' SubClassOf 'disease' + 'Anaplastic oligoastrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoastrocytic tumor' + 'Anaplastic oligoastrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118180 Label: phosphorylase, glycogen, liver - 'phosphorylase, glycogen, liver' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' - 'phosphorylase, glycogen, liver' SubClassOf 'gene' + 'phosphorylase, glycogen, liver' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' + 'phosphorylase, glycogen, liver' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase, glycogen, liver' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_400638 Label: solute carrier family 38, member 8 - 'solute carrier family 38, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' - 'solute carrier family 38, member 8' SubClassOf 'gene' + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284395 Label: Well-differentiated fetal adenocarcinoma of the lung - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_inheritance' some 'sporadic' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'disease' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_prevalence' some 'Unknown' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118182 Label: phosphorylase, glycogen, muscle - 'phosphorylase, glycogen, muscle' SubClassOf 'gene' - 'phosphorylase, glycogen, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' + 'phosphorylase, glycogen, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase, glycogen, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase, glycogen, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_400629 Label: kaptin (actin binding protein) - 'kaptin (actin binding protein)' SubClassOf 'gene' - 'kaptin (actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-developmental delay syndrome' + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Macrocephaly-developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231226 Label: Dominant beta-thalassemia - 'Dominant beta-thalassemia' SubClassOf 'disease' - 'Dominant beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Dominant beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dominant beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Dominant beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dominant beta-thalassemia' SubClassOf 'disease' + 'Dominant beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dominant beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Dominant beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_251656 Label: Oligoastrocytoma - 'Oligoastrocytoma' SubClassOf 'part_of' some 'Oligoastrocytic tumor' - 'Oligoastrocytoma' SubClassOf 'disease' + 'Oligoastrocytoma' SubClassOf 'disease' + 'Oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoastrocytic tumor' Class: http://www.orpha.net/ORDO/Orphanet_311398 Label: ATPase, Ca++ transporting, plasma membrane 3 - 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'gene' - 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non progressive cerebellar ataxia' + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_300493 Label: Sagliker syndrome - 'Sagliker syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Sagliker syndrome' SubClassOf 'part_of' some 'Rare bone disease' - 'Sagliker syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Sagliker syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sagliker syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sagliker syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Sagliker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone disease' + 'Sagliker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Sagliker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sagliker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_300496 Label: Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'malformation syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_118188 Label: RAB27A, member RAS oncogene family - 'RAB27A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 2' - 'RAB27A, member RAS oncogene family' SubClassOf 'gene' + 'RAB27A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 2' + 'RAB27A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15-q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAB27A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231222 Label: Beta-thalassemia intermedia - 'Beta-thalassemia intermedia' SubClassOf 'has_prevalence' some 'Unknown' - 'Beta-thalassemia intermedia' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Beta-thalassemia intermedia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Beta-thalassemia intermedia' SubClassOf 'disease' - 'Beta-thalassemia intermedia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Beta-thalassemia intermedia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Beta-thalassemia intermedia' SubClassOf 'disease' + 'Beta-thalassemia intermedia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia intermedia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_362774 Label: chromosome 15 open reading frame 41 - 'chromosome 15 open reading frame 41' SubClassOf 'gene' - 'chromosome 15 open reading frame 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' + 'chromosome 15 open reading frame 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 15 open reading frame 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' + 'chromosome 15 open reading frame 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_163956 Label: X-linked intellectual disability, Nascimento type - 'X-linked intellectual disability, Nascimento type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Nascimento type' SubClassOf 'disease' - 'X-linked intellectual disability, Nascimento type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Nascimento type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Nascimento type' SubClassOf 'disease' + 'X-linked intellectual disability, Nascimento type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_157215 Label: Hereditary hypophosphatemic rickets with hypercalciuria - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'part_of' some 'Hypophosphatemic rickets' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'disease' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatemic rickets' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'disease' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1006 Label: Alopecia antibody deficiency - 'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia antibody deficiency' SubClassOf 'disease' + 'Alopecia antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia antibody deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1008 Label: Alopecia - epilepsy - pyorrhea - intellectual disability - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'disease' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'disease' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85200 Label: Ischio-vertebral syndrome - 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ischio-vertebral syndrome' SubClassOf 'malformation syndrome' - 'Ischio-vertebral syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Ischio-vertebral syndrome' SubClassOf 'malformation syndrome' + 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ischio-vertebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_400642 Label: prolactin receptor - 'prolactin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple fibroadenoma of the breast' - 'prolactin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperprolactinemia' - 'prolactin receptor' SubClassOf 'gene' + 'prolactin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple fibroadenoma of the breast' + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial hyperprolactinemia' + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1003 Label: Scalp defects - postaxial polydactyly - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Scalp defects - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Scalp defects - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Scalp defects - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85201 Label: Genitopatellar syndrome - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Genitopatellar syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Genitopatellar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Genitopatellar syndrome' SubClassOf 'malformation syndrome' - 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Genitopatellar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genitopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Genitopatellar syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293955 Label: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_85202 Label: Keutel syndrome - 'Keutel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Keutel syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Keutel syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Keutel syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Keutel syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keutel syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Keutel syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Keutel syndrome' SubClassOf 'malformation syndrome' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keutel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Keutel syndrome' SubClassOf 'malformation syndrome' + 'Keutel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Keutel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_400640 Label: goosecoid homeobox - 'goosecoid homeobox' SubClassOf 'gene' - 'goosecoid homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.13"^^http://www.w3.org/2001/XMLSchema#string + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293958 Label: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1005 Label: Alopecia-contractures-dwarfism-intellectual disability syndrome - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85203 Label: Acro-pectoral syndrome - 'Acro-pectoral syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acro-pectoral syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-pectoral syndrome' SubClassOf 'disease' - 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-pectoral syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acro-pectoral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-pectoral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acro-pectoral syndrome' SubClassOf 'disease' + 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-pectoral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_398117 Label: Neonatal dermatomyositis - 'Neonatal dermatomyositis' SubClassOf 'disease' - 'Neonatal dermatomyositis' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal dermatomyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1001 Label: 2q37 microdeletion syndrome - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - '2q37 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q37 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q37 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '2q37 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '2q37 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + '2q37 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_319276 Label: Clear cell renal carcinoma - 'Clear cell renal carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Clear cell renal carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell renal carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1000 Label: Ocular albinism with late-onset sensorineural deafness - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'part_of' some 'Ocular albinism' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_251671 Label: Angiocentric glioma - 'Angiocentric glioma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' - 'Angiocentric glioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Angiocentric glioma' SubClassOf 'disease' + 'Angiocentric glioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Angiocentric glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Angiocentric glioma' SubClassOf 'disease' + 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_118194 Label: RAB3 GTPase activating protein subunit 1 (catalytic) - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'gene' - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251674 Label: Chordoid glioma - 'Chordoid glioma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' - 'Chordoid glioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chordoid glioma' SubClassOf 'disease' + 'Chordoid glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Chordoid glioma' SubClassOf 'disease' + 'Chordoid glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86900 Label: Interdigitating dendritic cell sarcoma - 'Interdigitating dendritic cell sarcoma' SubClassOf 'disease' - 'Interdigitating dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Interdigitating dendritic cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' + 'Interdigitating dendritic cell sarcoma' SubClassOf 'disease' + 'Interdigitating dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Interdigitating dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_55655 Label: Pneumococcal meningitis - 'Pneumococcal meningitis' SubClassOf 'disease' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' + 'Pneumococcal meningitis' SubClassOf 'disease' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_231237 Label: Delta-beta-thalassemia - 'Delta-beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Delta-beta-thalassemia' SubClassOf 'disease' - 'Delta-beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Delta-beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Delta-beta-thalassemia' SubClassOf 'disease' + 'Delta-beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Delta-beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_251668 Label: Glial tumor of the neuroepithelial tissue with unknown origin - 'Glial tumor of the neuroepithelial tissue with unknown origin' SubClassOf 'group of disorders' + 'Glial tumor of the neuroepithelial tissue with unknown origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_55654 Label: Hypotrichosis simplex - 'Hypotrichosis simplex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotrichosis simplex' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypotrichosis simplex' SubClassOf 'disease' - 'Hypotrichosis simplex' SubClassOf 'part_of' some 'Alopecia' - 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypotrichosis simplex' SubClassOf 'disease' + 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotrichosis simplex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hypotrichosis simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_86904 Label: Methotrexate-associated lymphoproliferative disorders - 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'disease' - 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'part_of' some 'Immunodeficiency-associated lymphoproliferative disease' + 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'disease' + 'Methotrexate-associated lymphoproliferative disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency-associated lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_86902 Label: Follicular dendritic cell sarcoma - 'Follicular dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Follicular dendritic cell sarcoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated mesenchymal tumor' - 'Follicular dendritic cell sarcoma' SubClassOf 'disease' - 'Follicular dendritic cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' + 'Follicular dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Follicular dendritic cell sarcoma' SubClassOf 'disease' + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_86903 Label: Dendritic cell sarcoma not otherwise specified - 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'part_of' some 'Dendritic cell tumor' - 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'disease' + 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'disease' + 'Dendritic cell sarcoma not otherwise specified' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_281190 Label: Congenital reticular ichthyosiform erythroderma - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'disease' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'disease' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital reticular ichthyosiform erythroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_86908 Label: Idiopathic hemiconvulsion-hemiplegia syndrome - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'disease' - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'disease' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86909 Label: Myoclonic epilepsy of infancy - 'Myoclonic epilepsy of infancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Myoclonic epilepsy of infancy' SubClassOf 'disease' - 'Myoclonic epilepsy of infancy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Myoclonic epilepsy of infancy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Myoclonic epilepsy of infancy' SubClassOf 'disease' + 'Myoclonic epilepsy of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myoclonic epilepsy of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Myoclonic epilepsy of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231230 Label: Beta-thalassemia associated with another hemoglobin anomaly - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'group of disorders' + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86906 Label: Hypothalamic hamartomas with gelastic seizures - 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'disease' - 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163961 Label: X-linked intellectual disability, Kroes type - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability, Kroes type' SubClassOf 'disease' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Kroes type' SubClassOf 'disease' + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Kroes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_227390 Label: solute carrier family 34 (type II sodium/phosphate contransporter), member 1 - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'gene' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85212 Label: Fetal Gaucher disease - 'Fetal Gaucher disease' SubClassOf 'part_of' some 'Gaucher disease' - 'Fetal Gaucher disease' SubClassOf 'clinical subtype' - 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal Gaucher disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fetal Gaucher disease' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Fetal Gaucher disease' SubClassOf 'clinical subtype' + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_163966 Label: X-linked dominant chondrodysplasia, Chassaing-Lacombe type - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_138561 Label: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'gene' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_398124 Label: Neonatal lupus erythematosus - 'Neonatal lupus erythematosus' SubClassOf 'disease' - 'Neonatal lupus erythematosus' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal lupus erythematosus' SubClassOf 'disease' + 'Neonatal lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_400617 Label: F-box protein 38 - 'F-box protein 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' - 'F-box protein 38' SubClassOf 'gene' + 'F-box protein 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'F-box protein 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'F-box protein 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251643 Label: Myxopapillary ependymoma - 'Myxopapillary ependymoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Myxopapillary ependymoma' SubClassOf 'histopathological subtype' - 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myxopapillary ependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Myxopapillary ependymoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myxopapillary ependymoma' SubClassOf 'histopathological subtype' + 'Myxopapillary ependymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myxopapillary ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' + 'Myxopapillary ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_398127 Label: Neonatal scleroderma - 'Neonatal scleroderma' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' - 'Neonatal scleroderma' SubClassOf 'disease' + 'Neonatal scleroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal scleroderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118160 Label: pseudouridylate synthase 1 - 'pseudouridylate synthase 1' SubClassOf 'gene' - 'pseudouridylate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' + 'pseudouridylate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pseudouridylate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24"^^http://www.w3.org/2001/XMLSchema#string + 'pseudouridylate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_400611 Label: NFS1 cysteine desulfurase - 'NFS1 cysteine desulfurase' SubClassOf 'gene' - 'NFS1 cysteine desulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'NFS1 cysteine desulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'NFS1 cysteine desulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NFS1 cysteine desulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118162 Label: poliovirus receptor-related 1 (herpesvirus entry mediator C) - 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'gene' - 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zlotogora-Ogur syndrome' + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zlotogora-Ogur syndrome' + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23-q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138568 Label: amnion associated transmembrane protein - 'amnion associated transmembrane protein' SubClassOf 'gene' - 'amnion associated transmembrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' + 'amnion associated transmembrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amnion associated transmembrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.32"^^http://www.w3.org/2001/XMLSchema#string + 'amnion associated transmembrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' Class: http://www.orpha.net/ORDO/Orphanet_326692 Label: disrupted in renal carcinoma 3 - 'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'disrupted in renal carcinoma 3' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' - 'disrupted in renal carcinoma 3' SubClassOf 'gene' + 'disrupted in renal carcinoma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'disrupted in renal carcinoma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'disrupted in renal carcinoma 3' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_293948 Label: 1p21.3 microdeletion syndrome - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' - '1p21.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - '1p21.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - '1p21.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '1p21.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '1p21.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 1' + '1p21.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251639 Label: Subependymoma - 'Subependymoma' SubClassOf 'histopathological subtype' - 'Subependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Subependymoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Subependymoma' SubClassOf 'histopathological subtype' + 'Subependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' + 'Subependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_357435 Label: interleukin 21 receptor - 'interleukin 21 receptor' SubClassOf 'gene' - 'interleukin 21 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cryptosporidiosis - chronic cholangitis - liver disease' + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cryptosporidiosis - chronic cholangitis - liver disease' + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251636 Label: Ependymoma - 'Ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ependymoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Ependymoma' SubClassOf 'histopathological subtype' - 'Ependymoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Ependymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ependymoma' SubClassOf 'histopathological subtype' + 'Ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_163971 Label: X-linked intellectual disability, Cilliers type - 'X-linked intellectual disability, Cilliers type' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'disease' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Cilliers type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Cilliers type' SubClassOf 'disease' + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_227397 Label: protein tyrosine phosphatase, receptor type, Q - 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'gene' + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_138575 Label: C1q and tumor necrosis factor related protein 5 - 'C1q and tumor necrosis factor related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset retinal degeneration' - 'C1q and tumor necrosis factor related protein 5' SubClassOf 'gene' + 'C1q and tumor necrosis factor related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'C1q and tumor necrosis factor related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset retinal degeneration' + 'C1q and tumor necrosis factor related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293936 Label: EDICT syndrome - 'EDICT syndrome' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'EDICT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'EDICT syndrome' SubClassOf 'disease' - 'EDICT syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'EDICT syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'EDICT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'EDICT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'EDICT syndrome' SubClassOf 'disease' + 'EDICT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_163979 Label: X-linked intellectual disability - craniofacioskeletal syndrome - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'disease' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'disease' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_138578 Label: insulin-like growth factor 1 receptor - 'insulin-like growth factor 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor I resistance' - 'insulin-like growth factor 1 receptor' SubClassOf 'gene' + 'insulin-like growth factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor I resistance' + 'insulin-like growth factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163976 Label: X-linked intellectual disability, Van Esch type - 'X-linked intellectual disability, Van Esch type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Van Esch type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Van Esch type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_227384 Label: BLK proto-oncogene, Src family tyrosine kinase - 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'gene' - 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23-p22"^^http://www.w3.org/2001/XMLSchema#string + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' Class: http://www.orpha.net/ORDO/Orphanet_282166 Label: Inherited Creutzfeldt-Jakob disease - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Inherited prion disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' Class: http://www.orpha.net/ORDO/Orphanet_400623 Label: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'gene' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Activated PIK3-delta syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Activated PIK3-delta syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251651 Label: Oligoastrocytic tumor - 'Oligoastrocytic tumor' SubClassOf 'group of disorders' + 'Oligoastrocytic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118174 Label: peroxisomal biogenesis factor 2 - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 2' SubClassOf 'gene' - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_319298 Label: Papillary renal cell carcinoma - 'Papillary renal cell carcinoma' SubClassOf 'histopathological subtype' - 'Papillary renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Papillary renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_293939 Label: Distal Xq28 microduplication syndrome - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal Xq28 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X' - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Distal Xq28 microduplication syndrome' SubClassOf 'malformation syndrome' - 'Distal Xq28 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Distal Xq28 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome X' + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal Xq28 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357449 Label: cysteinyl-tRNA synthetase - 'cysteinyl-tRNA synthetase' SubClassOf 'gene' - 'cysteinyl-tRNA synthetase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'cysteinyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cysteinyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cysteinyl-tRNA synthetase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' Class: http://www.orpha.net/ORDO/Orphanet_251646 Label: Anaplastic ependymoma - 'Anaplastic ependymoma' SubClassOf 'disease' - 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Anaplastic ependymoma' SubClassOf 'part_of' some 'Ependymal tumor' + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic ependymoma' SubClassOf 'disease' + 'Anaplastic ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ependymal tumor' + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Anaplastic ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_231214 Label: Beta-thalassemia major - 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beta-thalassemia major' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-thalassemia major' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Beta-thalassemia major' SubClassOf 'disease' - 'Beta-thalassemia major' SubClassOf 'has_prevalence' some 'Unknown' + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410010) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "160.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410158) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia major' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163985 Label: Hyperekplexia - epilepsy - 'Hyperekplexia - epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'Hyperekplexia' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' - 'Hyperekplexia - epilepsy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hyperekplexia - epilepsy' SubClassOf 'disease' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'Rare genetic movement disorder' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Hyperekplexia - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hyperekplexia - epilepsy' SubClassOf 'disease' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic movement disorder' + 'Hyperekplexia - epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_163982 Label: X-linked intellectual disability - spastic quadriparesis - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'disease' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'disease' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_138570 Label: FYVE, RhoGEF and PH domain containing 4 - 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4H' - 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'gene' + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4H' + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.1"^^http://www.w3.org/2001/XMLSchema#string + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_227387 Label: heat shock 27kDa protein 3 - 'heat shock 27kDa protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' - 'heat shock 27kDa protein 3' SubClassOf 'gene' + 'heat shock 27kDa protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heat shock 27kDa protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'heat shock 27kDa protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216820 Label: Osteogenesis imperfecta type 4 - 'Osteogenesis imperfecta type 4' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 4' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 4' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Osteogenesis imperfecta type 4' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_160296 Label: KN motif and ankyrin repeat domains 1 - 'KN motif and ankyrin repeat domains 1' SubClassOf 'gene' - 'KN motif and ankyrin repeat domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' + 'KN motif and ankyrin repeat domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KN motif and ankyrin repeat domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'KN motif and ankyrin repeat domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' Class: http://www.orpha.net/ORDO/Orphanet_254818 Label: Ataxia neuropathy spectrum - 'Ataxia neuropathy spectrum' SubClassOf 'group of disorders' + 'Ataxia neuropathy spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121989 Label: gamma-aminobutyric acid (GABA) A receptor, alpha 1 - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_189325 Label: VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) - 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with excessive autophagy' - 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'gene' + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with excessive autophagy' + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216828 Label: Osteogenesis imperfecta type 5 - 'Osteogenesis imperfecta type 5' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 5' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Osteogenesis imperfecta type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 5' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_357506 Label: Genetic non-syndromic renal or urinary tract malformation - 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_322104 Label: leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 - 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'gene' - 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_93399 Label: Juvenile sialidosis type 2 - 'Juvenile sialidosis type 2' SubClassOf 'part_of' some 'Sialidosis type 2' - 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' + 'Juvenile sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis type 2' + 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_357502 Label: Idiopathic nephrotic syndrome - 'Idiopathic nephrotic syndrome' SubClassOf 'group of disorders' + 'Idiopathic nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic nephrotic syndrome' SubClassOf 'group of disorders' + 'Idiopathic nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Idiopathic nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_299169 Label: microRNA 184 - 'microRNA 184' SubClassOf 'Disease-causing germline mutation(s) in' some 'EDICT syndrome' - 'microRNA 184' SubClassOf 'gene' + 'microRNA 184' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'microRNA 184' SubClassOf 'Disease-causing germline mutation(s) in' some 'EDICT syndrome' + 'microRNA 184' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_99135 Label: 6-phosphogluconate dehydrogenase deficiency - '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'disease' - '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'disease' + '6-phosphogluconate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_284362 Label: Fetal lung interstitial tumor - 'Fetal lung interstitial tumor' SubClassOf 'clinical subtype' - 'Fetal lung interstitial tumor' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' - 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal lung interstitial tumor' SubClassOf 'clinical subtype' + 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal lung interstitial tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_99138 Label: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_99139 Label: Unstable hemoglobin disease - 'Unstable hemoglobin disease' SubClassOf 'disease' - 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Unstable hemoglobin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Unstable hemoglobin disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121997 Label: UDP-galactose-4-epimerase - 'UDP-galactose-4-epimerase' SubClassOf 'gene' - 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrocyte galactose epimerase deficiency' - 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36-p35"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrocyte galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_396650 Label: PET100 homolog (S. cerevisiae) - 'PET100 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'PET100 homolog (S. cerevisiae)' SubClassOf 'gene' + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cytochrome C oxidase deficiency' + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121995 Label: galactosylceramidase - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult Krabbe disease' - 'galactosylceramidase' SubClassOf 'gene' - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-infantile/juvenile Krabbe disease' - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' + 'galactosylceramidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31"^^http://www.w3.org/2001/XMLSchema#string + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult Krabbe disease' + 'galactosylceramidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-infantile/juvenile Krabbe disease' + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_254822 Label: Mitochondrial oxidative phosphorylation disorder with no known mechanism - 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99130 Label: Congenital partial agenesis of pericardium - 'Congenital partial agenesis of pericardium' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Congenital partial agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital partial agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital partial agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121993 Label: gamma-aminobutyric acid (GABA) A receptor, gamma 2 - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'gene' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99131 Label: Pleuro-pericardial cyst - 'Pleuro-pericardial cyst' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Pleuro-pericardial cyst' SubClassOf 'morphological anomaly' + 'Pleuro-pericardial cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' + 'Pleuro-pericardial cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_396654 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_299166 Label: cytochrome P450, family 26, subfamily B, polypeptide 1 - 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal occipital encephalocele-skeletal dysplasia syndrome' - 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal occipital encephalocele-skeletal dysplasia syndrome' + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121991 Label: gamma-aminobutyric acid (GABA) A receptor, delta - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254803 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_235504 Label: ets variant 4 - 'ets variant 4' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' - 'ets variant 4' SubClassOf 'gene' + 'ets variant 4' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'ets variant 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ets variant 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160283 Label: glycogen synthase 1 (muscle) - 'glycogen synthase 1 (muscle)' SubClassOf 'gene' - 'glycogen synthase 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' + 'glycogen synthase 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycogen synthase 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' + 'glycogen synthase 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160288 Label: MARVEL domain containing 2 - 'MARVEL domain containing 2' SubClassOf 'gene' - 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'MARVEL domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'MARVEL domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_121999 Label: galactokinase 1 - 'galactokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactokinase deficiency' - 'galactokinase 1' SubClassOf 'gene' + 'galactokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactokinase deficiency' + 'galactokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254807 Label: Multiple mitochondrial DNA deletion syndrome - 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of disorders' + 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309854 Label: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Disorder of manganese transport' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of manganese transport' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93389 Label: Brachydactyly type A5 - 'Brachydactyly type A5' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A5' SubClassOf 'malformation syndrome' + 'Brachydactyly type A5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A5' SubClassOf 'malformation syndrome' + 'Brachydactyly type A5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_216812 Label: Osteogenesis imperfecta type 3 - 'Osteogenesis imperfecta type 3' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 3' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteogenesis imperfecta type 3' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Osteogenesis imperfecta type 3' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93388 Label: Brachydactyly type A1 - 'Brachydactyly type A1' SubClassOf 'malformation syndrome' - 'Brachydactyly type A1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A1' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type A1' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly type A1' SubClassOf 'malformation syndrome' + 'Brachydactyly type A1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_171201 Label: High anorectal malformation - 'High anorectal malformation' SubClassOf 'morphological anomaly' - 'High anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'High anorectal malformation' SubClassOf 'morphological anomaly' + 'High anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93395 Label: Ballard syndrome - 'Ballard syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Ballard syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ballard syndrome' SubClassOf 'malformation syndrome' - 'Ballard syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ballard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Ballard syndrome' SubClassOf 'malformation syndrome' + 'Ballard syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ballard syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99147 Label: Acquired von Willebrand syndrome - 'Acquired von Willebrand syndrome' SubClassOf 'disease' - 'Acquired von Willebrand syndrome' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' - 'Acquired von Willebrand syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired von Willebrand syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired von Willebrand syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Acquired von Willebrand syndrome' SubClassOf 'disease' + 'Acquired von Willebrand syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired von Willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired von Willebrand syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_93396 Label: Brachydactyly type A2 - 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A2' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A2' SubClassOf 'malformation syndrome' - 'Brachydactyly type A2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type A2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A2' SubClassOf 'malformation syndrome' + 'Brachydactyly type A2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178795 Label: cyclin M4 - 'cyclin M4' SubClassOf 'gene' - 'cyclin M4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jalili syndrome' + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Jalili syndrome' + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93397 Label: Brachydactyly type A7 - 'Brachydactyly type A7' SubClassOf 'malformation syndrome' - 'Brachydactyly type A7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A7' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly type A7' SubClassOf 'malformation syndrome' + 'Brachydactyly type A7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93398 Label: Genochondromatosis type 2 - 'Genochondromatosis type 2' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Genochondromatosis type 2' SubClassOf 'disease' + 'Genochondromatosis type 2' SubClassOf 'disease' + 'Genochondromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_93394 Label: Brachydactyly type A4 - 'Brachydactyly type A4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A4' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A4' SubClassOf 'malformation syndrome' - 'Brachydactyly type A4' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A4' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309851 Label: Disorder of manganese transport - 'Disorder of manganese transport' SubClassOf 'group of disorders' + 'Disorder of manganese transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2502 Label: Metaphyseal dysostosis - intellectual disability - conductive deafness - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'malformation syndrome' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'malformation syndrome' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2505 Label: Multiple benign circumferential skin creases on limbs - 'Multiple benign circumferential skin creases on limbs' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Multiple benign circumferential skin creases on limbs' SubClassOf 'disease' + 'Multiple benign circumferential skin creases on limbs' SubClassOf 'disease' + 'Multiple benign circumferential skin creases on limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_330061 Label: Actinic prurigo - 'Actinic prurigo' SubClassOf 'has_inheritance' some 'sporadic' - 'Actinic prurigo' SubClassOf 'disease' - 'Actinic prurigo' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Actinic prurigo' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Actinic prurigo' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Actinic prurigo' SubClassOf 'has_prevalence' some 'Unknown' + 'Actinic prurigo' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Actinic prurigo' SubClassOf 'disease' + 'Actinic prurigo' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Actinic prurigo' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Actinic prurigo' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2504 Label: Metaphyseal dysplasia - maxillary hypoplasia - brachydacty - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'malformation syndrome' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'malformation syndrome' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_330064 Label: Chronic actinic dermatitis - 'Chronic actinic dermatitis' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Chronic actinic dermatitis' SubClassOf 'disease' - 'Chronic actinic dermatitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Chronic actinic dermatitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Chronic actinic dermatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic actinic dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Chronic actinic dermatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Chronic actinic dermatitis' SubClassOf 'disease' + 'Chronic actinic dermatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_178791 Label: ADAMTS-like 4 - 'ADAMTS-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' - 'ADAMTS-like 4' SubClassOf 'gene' + 'ADAMTS-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAMTS-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' + 'ADAMTS-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2501 Label: Metaphyseal chondrodysplasia, Spahr type - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2500 Label: Acrogeria - 'Acrogeria' SubClassOf 'malformation syndrome' - 'Acrogeria' SubClassOf 'part_of' some 'Premature aging' + 'Acrogeria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Acrogeria' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309842 Label: Disorder of iron metabolism and transport - 'Disorder of iron metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of iron metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_34149 Label: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'disease' + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309845 Label: Disorder of zinc metabolism - 'Disorder of zinc metabolism' SubClassOf 'group of disorders' + 'Disorder of zinc metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309848 Label: Disorder of magnesium transport - 'Disorder of magnesium transport' SubClassOf 'group of disorders' + 'Disorder of magnesium transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99109 Label: Persistent left superior vena cava connecting to the left-sided atrium - 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'morphological anomaly' + 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99108 Label: Patent foramen ovale - 'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Patent foramen ovale' SubClassOf 'morphological anomaly' + 'Patent foramen ovale' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Patent foramen ovale' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93382 Label: Brachydactyly type A6 - 'Brachydactyly type A6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A6' SubClassOf 'malformation syndrome' - 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A6' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Brachydactyly type A6' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A6' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type A6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A6' SubClassOf 'malformation syndrome' + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93383 Label: Brachydactyly type B - 'Brachydactyly type B' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type B' SubClassOf 'malformation syndrome' - 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type B' SubClassOf 'malformation syndrome' + 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99117 Label: Coronary sinus stenosis - 'Coronary sinus stenosis' SubClassOf 'part_of' some 'Congenital anomaly of the coronary sinus' - 'Coronary sinus stenosis' SubClassOf 'morphological anomaly' + 'Coronary sinus stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the coronary sinus' + 'Coronary sinus stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_284388 Label: Reversible cerebral vasoconstriction syndrome - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'clinical syndrome' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'part_of' some 'Rare headache' + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Reversible cerebral vasoconstriction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99118 Label: Coronary sinus atresia - 'Coronary sinus atresia' SubClassOf 'morphological anomaly' - 'Coronary sinus atresia' SubClassOf 'part_of' some 'Congenital anomaly of the coronary sinus' + 'Coronary sinus atresia' SubClassOf 'morphological anomaly' + 'Coronary sinus atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the coronary sinus' Class: http://www.orpha.net/ORDO/Orphanet_99111 Label: Left superior vena cava persisting to left-sided atrium - 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Left superior vena cava persisting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289891 Label: Hypermethioninemia due to glycine N-methyltransferase deficiency - 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' - 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_99112 Label: Absence of innominate vein - 'Absence of innominate vein' SubClassOf 'morphological anomaly' - 'Absence of innominate vein' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' + 'Absence of innominate vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Absence of innominate vein' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93387 Label: Brachydactyly type E - 'Brachydactyly type E' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type E' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type E' SubClassOf 'malformation syndrome' - 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type E' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type E' SubClassOf 'malformation syndrome' + 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_400703 Label: integrin, beta 6 - 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' - 'integrin, beta 6' SubClassOf 'gene' - 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypoplastic amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99113 Label: Subaortic course of innominate vein - 'Subaortic course of innominate vein' SubClassOf 'morphological anomaly' - 'Subaortic course of innominate vein' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' + 'Subaortic course of innominate vein' SubClassOf 'morphological anomaly' + 'Subaortic course of innominate vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_93384 Label: Brachydactyly type C - 'Brachydactyly type C' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type C' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type C' SubClassOf 'malformation syndrome' - 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type C' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type C' SubClassOf 'malformation syndrome' + 'Brachydactyly type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_99114 Label: Agenesis of the superior vena cava - 'Agenesis of the superior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Agenesis of the superior vena cava' SubClassOf 'morphological anomaly' + 'Agenesis of the superior vena cava' SubClassOf 'morphological anomaly' + 'Agenesis of the superior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_284385 Label: Familial intrahepatic cholestasis - 'Familial intrahepatic cholestasis' SubClassOf 'group of disorders' + 'Familial intrahepatic cholestasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121972 Label: FXYD domain containing ion transport regulator 2 - 'FXYD domain containing ion transport regulator 2' SubClassOf 'gene' - 'FXYD domain containing ion transport regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' + 'FXYD domain containing ion transport regulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'FXYD domain containing ion transport regulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FXYD domain containing ion transport regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' Class: http://www.orpha.net/ORDO/Orphanet_299186 Label: thiamin pyrophosphokinase 1 - 'thiamin pyrophosphokinase 1' SubClassOf 'gene' - 'thiamin pyrophosphokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' + 'thiamin pyrophosphokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'thiamin pyrophosphokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' + 'thiamin pyrophosphokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289897 Label: glycine N-methyltransferase - 'glycine N-methyltransferase' SubClassOf 'gene' - 'glycine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia due to glycine N-methyltransferase deficiency' + 'glycine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'glycine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia due to glycine N-methyltransferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99110 Label: Right superior vena cava connecting to left-sided atrium - 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Right superior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289899 Label: Organic aciduria - 'Organic aciduria' SubClassOf 'group of disorders' + 'Organic aciduria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309833 Label: Disorder of other vitamins and cofactors metabolism and transport - 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121977 Label: frizzled class receptor 4 - 'frizzled class receptor 4' SubClassOf 'gene' - 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'frizzled class receptor 4' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' - 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' + 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'frizzled class receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'frizzled class receptor 4' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' + 'frizzled class receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14-q21"^^http://www.w3.org/2001/XMLSchema#string + 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' Class: http://www.orpha.net/ORDO/Orphanet_309830 Label: Disorder of catecholamine synthesis - 'Disorder of catecholamine synthesis' SubClassOf 'group of disorders' + 'Disorder of catecholamine synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309836 Label: Disorder of mineral absorption and transport - 'Disorder of mineral absorption and transport' SubClassOf 'group of disorders' + 'Disorder of mineral absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93367 Label: CINCA syndrome without CIAS1 mutations - 'CINCA syndrome without CIAS1 mutations' SubClassOf 'part_of' some 'CINCA syndrome' - 'CINCA syndrome without CIAS1 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome without CIAS1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309839 Label: Disorder of copper metabolism - 'Disorder of copper metabolism' SubClassOf 'group of disorders' + 'Disorder of copper metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99119 Label: Right inferior vena cava connecting to left-sided atrium - 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' - 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Right inferior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99129 Label: Congenital complete agenesis of pericardium - 'Congenital complete agenesis of pericardium' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Congenital complete agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital complete agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' + 'Congenital complete agenesis of pericardium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93372 Label: Familial hypocalciuric hypercalcemia type 1 - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'part_of' some 'Familial hypocalciuric hypercalcemia' - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'etiological subtype' - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'etiological subtype' + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypocalciuric hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_99124 Label: Congenital partial pulmonary venous return anomaly - 'Congenital partial pulmonary venous return anomaly' SubClassOf 'morphological anomaly' - 'Congenital partial pulmonary venous return anomaly' SubClassOf 'part_of' some 'Congenital pulmonary venous return anomaly' + 'Congenital partial pulmonary venous return anomaly' SubClassOf 'morphological anomaly' + 'Congenital partial pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary venous return anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99125 Label: Congenital total pulmonary venous return anomaly - 'Congenital total pulmonary venous return anomaly' SubClassOf 'morphological anomaly' - 'Congenital total pulmonary venous return anomaly' SubClassOf 'part_of' some 'Congenital pulmonary venous return anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary venous return anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf 'morphological anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.67"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99122 Label: Congenital stenosis of the inferior vena cava - 'Congenital stenosis of the inferior vena cava' SubClassOf 'morphological anomaly' - 'Congenital stenosis of the inferior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Congenital stenosis of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Congenital stenosis of the inferior vena cava' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99123 Label: Inferior vena cava interruption - 'Inferior vena cava interruption' SubClassOf 'morphological anomaly' - 'Inferior vena cava interruption' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Inferior vena cava interruption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Inferior vena cava interruption' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99120 Label: Persistent eustachian valve - 'Persistent eustachian valve' SubClassOf 'morphological anomaly' - 'Persistent eustachian valve' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Persistent eustachian valve' SubClassOf 'morphological anomaly' + 'Persistent eustachian valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99121 Label: Azygos continuation of the inferior vena cava - 'Azygos continuation of the inferior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' - 'Azygos continuation of the inferior vena cava' SubClassOf 'morphological anomaly' + 'Azygos continuation of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Azygos continuation of the inferior vena cava' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121980 Label: glucose-6-phosphatase, catalytic subunit - 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'gene' - 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' + 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' + 'glucose-6-phosphatase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'glucose-6-phosphatase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121987 Label: glucosidase, alpha; acid - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, adult onset' - 'glucosidase, alpha; acid' SubClassOf 'gene' - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, infantile onset' + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, adult onset' + 'glucosidase, alpha; acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, infantile onset' + 'glucosidase, alpha; acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.2-q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118111 Label: phosphoserine phosphatase - 'phosphoserine phosphatase' SubClassOf 'gene' - 'phosphoserine phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoserine phosphatase deficiency' + 'phosphoserine phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoserine phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoserine phosphatase deficiency' + 'phosphoserine phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319314 Label: Renal cell carcinoma associated with neuroblastoma - 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'histopathological subtype' + 'Renal cell carcinoma associated with neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118114 Label: proline-serine-threonine phosphatase interacting protein 1 - 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'gene' - 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic arthritis - pyoderma gangrenosum - acne' + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic arthritis - pyoderma gangrenosum - acne' Class: http://www.orpha.net/ORDO/Orphanet_309827 Label: Disorder of vitamin and non-protein cofactor absorption and transport� - 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of disorders' + 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120819 Label: cysteine-rich with EGF-like domains 1 - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - left heart obstruction' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - ventricle hypoplasia' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'gene' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - Fallot tetralogy' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - left heart obstruction' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319319 Label: Renal medullary carcinoma - 'Renal medullary carcinoma' SubClassOf 'histopathological subtype' - 'Renal medullary carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Renal medullary carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Renal medullary carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_216866 Label: Classic pantothenate kinase-associated neurodegeneration - 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' - 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Pantothenate kinase-associated neurodegeneration' + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_304455 Label: GATA zinc finger domain containing 1 - 'GATA zinc finger domain containing 1' SubClassOf 'gene' - 'GATA zinc finger domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'GATA zinc finger domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA zinc finger domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'GATA zinc finger domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_309824 Label: Disorder of metabolite absorption and transport - 'Disorder of metabolite absorption and transport' SubClassOf 'group of disorders' + 'Disorder of metabolite absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300525 Label: Pseudohypoaldosteronism type 2D - 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoaldosteronism type 2D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudohypoaldosteronism type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_254857 Label: Lethal infantile mitochondrial myopathy - 'Lethal infantile mitochondrial myopathy' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lethal infantile mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_270208 Label: GIPC PDZ domain containing family, member 3 - 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'GIPC PDZ domain containing family, member 3' SubClassOf 'gene' + 'GIPC PDZ domain containing family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'GIPC PDZ domain containing family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120811 Label: cereblon - 'cereblon' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' - 'cereblon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'cereblon' SubClassOf 'gene' + 'cereblon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cereblon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26.3"^^http://www.w3.org/2001/XMLSchema#string + 'cereblon' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' + 'cereblon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_120814 Label: CREB binding protein - 'CREB binding protein' SubClassOf 'gene' - 'CREB binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rubinstein-Taybi syndrome due to CREBBP mutations' - 'CREB binding protein' SubClassOf 'Role in the phenotype of' some 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' - 'CREB binding protein' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'CREB binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CREB binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rubinstein-Taybi syndrome due to CREBBP mutations' + 'CREB binding protein' SubClassOf 'Role in the phenotype of' some 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' + 'CREB binding protein' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'CREB binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2528 Label: Microcephaly-microcornea syndrome, Seemanova type - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'malformation syndrome' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic developmental defect of the eye' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99170 Label: Tarsal kink syndrome - 'Tarsal kink syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Tarsal kink syndrome' SubClassOf 'morphological anomaly' + 'Tarsal kink syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Tarsal kink syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121953 Label: ferritin, light polypeptide - 'ferritin, light polypeptide' SubClassOf 'gene' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroferritinopathy' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic hyperferritinemia without iron overload' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperferritinemia with congenital cataracts' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroferritinopathy' + 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic hyperferritinemia without iron overload' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hereditary hyperferritinemia with congenital cataracts' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_398073 Label: Prader-Willi-like syndrome - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Prader-Willi-like syndrome' SubClassOf 'disease' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Prader-Willi-like syndrome' SubClassOf 'disease' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289877 Label: Transient hyperammonemia of the newborn - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Rare respiratory disease' - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Transient hyperammonemia of the newborn' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' + 'Transient hyperammonemia of the newborn' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2538 Label: Microgastria - limb reduction defect - 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microgastria - limb reduction defect' SubClassOf 'part_of' some 'Syndromic gastroduodenal malformation' - 'Microgastria - limb reduction defect' SubClassOf 'malformation syndrome' - 'Microgastria - limb reduction defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microgastria - limb reduction defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Microgastria - limb reduction defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microgastria - limb reduction defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic gastroduodenal malformation' + 'Microgastria - limb reduction defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microgastria - limb reduction defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microgastria - limb reduction defect' SubClassOf 'malformation syndrome' + 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microgastria - limb reduction defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99172 Label: Euryblepharon - 'Euryblepharon' SubClassOf 'morphological anomaly' - 'Euryblepharon' SubClassOf 'part_of' some 'Congenital ectropion' + 'Euryblepharon' SubClassOf 'morphological anomaly' + 'Euryblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' Class: http://www.orpha.net/ORDO/Orphanet_85288 Label: X-linked intellectual disability, Stocco Dos Santos type - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141265 Label: Tessier number 6 facial cleft - 'Tessier number 6 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' - 'Tessier number 6 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 6 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' + 'Tessier number 6 facial cleft' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121951 Label: formimidoyltransferase cyclodeaminase - 'formimidoyltransferase cyclodeaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Formiminoglutamic aciduria' - 'formimidoyltransferase cyclodeaminase' SubClassOf 'gene' + 'formimidoyltransferase cyclodeaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'formimidoyltransferase cyclodeaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Formiminoglutamic aciduria' + 'formimidoyltransferase cyclodeaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2535 Label: Microcornea - corectopia - macular hypoplasia - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'malformation syndrome' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'malformation syndrome' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_99171 Label: Isolated congenital ectropion - 'Isolated congenital ectropion' SubClassOf 'morphological anomaly' - 'Isolated congenital ectropion' SubClassOf 'part_of' some 'Congenital ectropion' + 'Isolated congenital ectropion' SubClassOf 'morphological anomaly' + 'Isolated congenital ectropion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' Class: http://www.orpha.net/ORDO/Orphanet_85289 Label: X-linked intellectual disability, Vitale type - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Vitale type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Vitale type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Vitale type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Vitale type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Vitale type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Vitale type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Vitale type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123675 Label: N-acetylglutamate synthase - 'N-acetylglutamate synthase' SubClassOf 'gene' - 'N-acetylglutamate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' + 'N-acetylglutamate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglutamate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglutamate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_217619 Label: Syndrome associated with dilated cardiomyopathy - 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2536 Label: Microcornea - glaucoma - absent frontal sinuses - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'malformation syndrome' - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'part_of' some 'Developmental defect of the eye' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'malformation syndrome' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_85286 Label: X-linked intellectual disability, Shashi type - 'X-linked intellectual disability, Shashi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Shashi type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Shashi type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Shashi type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217616 Label: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2533 Label: Microcephaly - deafness - intellectual disability - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - deafness - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85287 Label: X-linked intellectual disability, Siderius type - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Siderius type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Siderius type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Siderius type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Siderius type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Siderius type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99176 Label: Congenital eyelid retraction - 'Congenital eyelid retraction' SubClassOf 'part_of' some 'Congenital upper palpebral retraction' - 'Congenital eyelid retraction' SubClassOf 'morphological anomaly' + 'Congenital eyelid retraction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital upper palpebral retraction' + 'Congenital eyelid retraction' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85284 Label: BRESEK syndrome - 'BRESEK syndrome' SubClassOf 'malformation syndrome' - 'BRESEK syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'BRESEK syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'BRESEK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'BRESEK syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'BRESEK syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'BRESEK syndrome' SubClassOf 'malformation syndrome' + 'BRESEK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'BRESEK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'BRESEK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_141269 Label: Lateral facial cleft - 'Lateral facial cleft' SubClassOf 'group of disorders' + 'Lateral facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85285 Label: X-linked intellectual disability, Schimke type - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Schimke type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Schimke type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Schimke type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Schimke type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Schimke type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_398079 Label: Prader-Willi-like syndrome due to point mutation - 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi-like syndrome' - 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi-like syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254864 Label: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85282 Label: MEHMO syndrome - 'MEHMO syndrome' SubClassOf 'malformation syndrome' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'MEHMO syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MEHMO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MEHMO syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MEHMO syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'MEHMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'MEHMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'MEHMO syndrome' SubClassOf 'malformation syndrome' + 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MEHMO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99177 Label: Isolated distichiasis - 'Isolated distichiasis' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Isolated distichiasis' SubClassOf 'morphological anomaly' + 'Isolated distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Isolated distichiasis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85283 Label: X-linked intellectual disability, Miles-Carpenter type - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217613 Label: Mitochondrial disease with dilated cardiomyopathy - 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85280 Label: X-linked intellectual disability - cubitus valgus - dysmorphism - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_217610 Label: Neuromuscular disease with dilated cardiomyopathy - 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99179 Label: Kandori fleck retina - 'Kandori fleck retina' SubClassOf 'malformation syndrome' - 'Kandori fleck retina' SubClassOf 'part_of' some 'Familial flecked retinopathy' + 'Kandori fleck retina' SubClassOf 'malformation syndrome' + 'Kandori fleck retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' Class: http://www.orpha.net/ORDO/Orphanet_123672 Label: N-acetylglucosaminidase, alpha - 'N-acetylglucosaminidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type B' - 'N-acetylglucosaminidase, alpha' SubClassOf 'gene' + 'N-acetylglucosaminidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type B' + 'N-acetylglucosaminidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosaminidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284324 Label: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'disease' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'disease' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141261 Label: Tessier number 5 facial cleft - 'Tessier number 5 facial cleft' SubClassOf 'morphological anomaly' - 'Tessier number 5 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' + 'Tessier number 5 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 5 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_265487 Label: dpy-19-like 2 (C. elegans) - 'dpy-19-like 2 (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' - 'dpy-19-like 2 (C. elegans)' SubClassOf 'gene' + 'dpy-19-like 2 (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'dpy-19-like 2 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'dpy-19-like 2 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319325 Label: Tubulocystic carcinoma - 'Tubulocystic carcinoma' SubClassOf 'histopathological subtype' - 'Tubulocystic carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Tubulocystic carcinoma' SubClassOf 'histopathological subtype' + 'Tubulocystic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_300530 Label: Pseudohypoaldosteronism type 2E - 'Pseudohypoaldosteronism type 2E' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoaldosteronism type 2E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudohypoaldosteronism type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_309819 Label: Disorder of pterin metabolism - 'Disorder of pterin metabolism' SubClassOf 'group of disorders' + 'Disorder of pterin metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319328 Label: Inherited renal cell cancer-predisposing syndrome - 'Inherited renal cell cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited renal cell cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309816 Label: Disorder of bilirubin metabolism and excretion - 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of disorders' + 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118105 Label: presenilin 2 - 'presenilin 2' SubClassOf 'gene' - 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' - 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'presenilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'presenilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120828 Label: crystallin, alpha A - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, alpha A' SubClassOf 'gene' + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, alpha A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, alpha A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' Class: http://www.orpha.net/ORDO/Orphanet_254846 Label: Isolated oxidative phosphorylation complex disorder - 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of disorders' + 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309813 Label: Disorder of porphyrin and haem metabolism - 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of disorders' + 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300536 Label: DDOST-CDG - 'DDOST-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'DDOST-CDG' SubClassOf 'disease' - 'DDOST-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DDOST-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'DDOST-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DDOST-CDG' SubClassOf 'disease' + 'DDOST-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'DDOST-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_309810 Label: Disorder of peroxisomal alpha-, beta- and omega-oxidation - 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of disorders' + 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291794 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 6 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'gene' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis universalis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular coloboma' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis universalis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121955 Label: FtsJ RNA methyltransferase homolog 1 (E. coli) - 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'gene' + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120822 Label: cone-rod homeobox - 'cone-rod homeobox' SubClassOf 'gene' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'cone-rod homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cone-rod homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85277 Label: X-linked intellectual disability, Cantagrel type - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Cantagrel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cantagrel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_398063 Label: Refractory celiac disease - 'Refractory celiac disease' SubClassOf 'disease' - 'Refractory celiac disease' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Refractory celiac disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289869 Label: Disorder of ornithine metabolism - 'Disorder of ornithine metabolism' SubClassOf 'group of disorders' + 'Disorder of ornithine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120832 Label: crystallin, alpha B - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertonic myofibrillar myopathy' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-crystallinopathy' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'crystallin, alpha B' SubClassOf 'gene' + 'crystallin, alpha B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3-q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, alpha B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertonic myofibrillar myopathy' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-B crystallin-related late-onset distal myopathy' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_217607 Label: Familial dilated cardiomyopathy - 'Familial dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Familial dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85278 Label: Christianson syndrome - 'Christianson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Christianson syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Christianson syndrome' SubClassOf 'malformation syndrome' - 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Christianson syndrome' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Christianson syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Christianson syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Christianson syndrome' SubClassOf 'malformation syndrome' + 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Christianson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Christianson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121963 Label: fucosidase, alpha-L- 1, tissue - 'fucosidase, alpha-L- 1, tissue' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fucosidosis' - 'fucosidase, alpha-L- 1, tissue' SubClassOf 'gene' + 'fucosidase, alpha-L- 1, tissue' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'fucosidase, alpha-L- 1, tissue' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fucosidosis' + 'fucosidase, alpha-L- 1, tissue' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85279 Label: Syndromic X-linked intellectual disability due to JARID1C mutation - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'malformation syndrome' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'malformation syndrome' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_289866 Label: Disorder of proline metabolism - 'Disorder of proline metabolism' SubClassOf 'group of disorders' + 'Disorder of proline metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141253 Label: Oblique facial cleft - 'Oblique facial cleft' SubClassOf 'group of disorders' + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Oblique facial cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oblique facial cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oblique facial cleft' SubClassOf 'group of disorders' + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_123688 Label: nibrin - 'nibrin' SubClassOf 'gene' - 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome' - 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'nibrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome' + 'nibrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q24"^^http://www.w3.org/2001/XMLSchema#string + 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121965 Label: frataxin - 'frataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Friedreich ataxia' - 'frataxin' SubClassOf 'gene' + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Friedreich ataxia' Class: http://www.orpha.net/ORDO/Orphanet_254851 Label: Maternally-inherited mitochondrial dystonia - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Maternally-inherited mitochondrial dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2549 Label: Oculoauriculovertebral spectrum with radial defects - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'malformation syndrome' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'malformation syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85273 Label: X-linked intellectual disability, Abidi type - 'X-linked intellectual disability, Abidi type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Abidi type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Abidi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Abidi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Abidi type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Abidi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Abidi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141258 Label: Tessier number 4 facial cleft - 'Tessier number 4 facial cleft' SubClassOf 'morphological anomaly' - 'Tessier number 4 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' + 'Tessier number 4 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 4 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2542 Label: Isolated anophthalmia - microphthalmia - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'group of disorders' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'group of disorders' + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_254854 Label: Pure mitochondrial myopathy - 'Pure mitochondrial myopathy' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Pure mitochondrial myopathy' SubClassOf 'disease' - 'Pure mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'Pure mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Pure mitochondrial myopathy' SubClassOf 'disease' + 'Pure mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_265490 Label: serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85274 Label: Syndromic X-linked intellectual disability 7 - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'malformation syndrome' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Syndromic X-linked intellectual disability 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic X-linked intellectual disability 7' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217604 Label: Dilated cardiomyopathy - 'Dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2543 Label: Microphthalmia - cataract - 'Microphthalmia - cataract' SubClassOf 'malformation syndrome' - 'Microphthalmia - cataract' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Microphthalmia - cataract' SubClassOf 'part_of' some 'Syndromic cataract' + 'Microphthalmia - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Microphthalmia - cataract' SubClassOf 'malformation syndrome' + 'Microphthalmia - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_85275 Label: Microphthalmia - ankyloblepharon - intellectual disability - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'malformation syndrome' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_prevalence' some 'Unknown' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'malformation syndrome' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_289863 Label: Atypical glycine encephalopathy - 'Atypical glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Atypical glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' - 'Atypical glycine encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Atypical glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Atypical glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' + 'Atypical glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Atypical glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_85276 Label: X-linked intellectual disability, Armfield type - 'X-linked intellectual disability, Armfield type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Armfield type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Armfield type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Armfield type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Armfield type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_289860 Label: Infantile glycine encephalopathy - 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' - 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile glycine encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Infantile glycine encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' + 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398069 Label: Prader-Willi syndrome due to point mutation - 'Prader-Willi syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi syndrome' - 'Prader-Willi syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217601 Label: Hypertrophic cardiomyopathy due to intensive athletic training - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_123680 Label: NLR family, apoptosis inhibitory protein - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'gene' + 'NLR family, apoptosis inhibitory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' + 'NLR family, apoptosis inhibitory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319322 Label: Mucinous tubular and spindle cell carcinoma - 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'histopathological subtype' + 'Mucinous tubular and spindle cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_265497 Label: trans-2,3-enoyl-CoA reductase - 'trans-2,3-enoyl-CoA reductase' SubClassOf 'gene' - 'trans-2,3-enoyl-CoA reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'trans-2,3-enoyl-CoA reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'trans-2,3-enoyl-CoA reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'trans-2,3-enoyl-CoA reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_322126 Label: Genetic tumor of hematopoietic and lymphoid tissues - 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' + 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182553 Label: chimerin 1 - 'chimerin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duane retraction syndrome' - 'chimerin 1' SubClassOf 'gene' + 'chimerin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duane retraction syndrome' + 'chimerin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chimerin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31-q32.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284339 Label: Pontocerebellar hypoplasia type 7 - 'Pontocerebellar hypoplasia type 7' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 7' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_262887 Label: Partial duplication of the long arm of chromosome 7 - 'Partial duplication of the long arm of chromosome 7' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398091 Label: Secondary neonatal autoimmune disease - 'Secondary neonatal autoimmune disease' SubClassOf 'group of disorders' + 'Secondary neonatal autoimmune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289849 Label: Glutathione synthetase deficiency without 5-oxoprolinuria - 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' - 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'part_of' some 'Glutathione synthetase deficiency' + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_189344 Label: potassium inwardly-rectifying channel, subfamily J, member 10 - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'EAST syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'gene' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'EAST syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2508 Label: Micrencephaly - corpus callosum agenesis - abnormal genitalia - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_prevalence' some 'Unknown' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'malformation syndrome' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'malformation syndrome' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_300501 Label: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'disease' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'disease' + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_121922 Label: Fraser extracellular matrix complex subunit 1 - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'gene' - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'Fraser extracellular matrix complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fraser extracellular matrix complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_300504 Label: Onychocytic matricoma - 'Onychocytic matricoma' SubClassOf 'part_of' some 'Rare nail tumor' - 'Onychocytic matricoma' SubClassOf 'disease' - 'Onychocytic matricoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Onychocytic matricoma' SubClassOf 'disease' + 'Onychocytic matricoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nail tumor' + 'Onychocytic matricoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254837 Label: Unspecified mitochondrial disorder - 'Unspecified mitochondrial disorder' SubClassOf 'group of disorders' + 'Unspecified mitochondrial disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189348 Label: latent transforming growth factor beta binding protein 2 - 'latent transforming growth factor beta binding protein 2' SubClassOf 'gene' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' + 'latent transforming growth factor beta binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'latent transforming growth factor beta binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_309803 Label: Rhizomelic chondrodysplasia punctata type 3 - 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' - 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'part_of' some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_121927 Label: FRAS1 related extracellular matrix protein 2 - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'gene' + 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'FRAS1 related extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'FRAS1 related extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_293899 Label: Familial isolated arrhythmogenic ventricular dysplasia, biventricular form - 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'clinical subtype' - 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2511 Label: Microbrachycephaly - ptosis - cleft lip - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'malformation syndrome' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'malformation syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2512 Label: Autosomal recessive primary microcephaly - 'Autosomal recessive primary microcephaly' SubClassOf 'disease' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive primary microcephaly' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Autosomal recessive primary microcephaly' SubClassOf 'part_of' some 'Isolated congenital microcephaly' + 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive primary microcephaly' SubClassOf 'disease' + 'Autosomal recessive primary microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital microcephaly' + 'Autosomal recessive primary microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive primary microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_254843 Label: Exercise intolerance with lactic acidosis - 'Exercise intolerance with lactic acidosis' SubClassOf 'group of disorders' + 'Exercise intolerance with lactic acidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2510 Label: Micro syndrome - 'Micro syndrome' SubClassOf 'malformation syndrome' - 'Micro syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Micro syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Micro syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Micro syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Micro syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Micro syndrome' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Micro syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Micro syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Micro syndrome' SubClassOf 'malformation syndrome' + 'Micro syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2515 Label: Microcephaly - cardiomyopathy - 'Microcephaly - cardiomyopathy' SubClassOf 'malformation syndrome' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf 'malformation syndrome' + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Microcephaly - cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_291751 Label: distal-less homeobox 5 - 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand - split foot - deafness' - 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' - 'distal-less homeobox 5' SubClassOf 'gene' + 'distal-less homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'distal-less homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand - split foot - deafness' + 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_2516 Label: Microcephaly - cardiac defect - lung malsegmentation - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'malformation syndrome' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'malformation syndrome' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2513 Label: Microcephaly - albinism - digital anomalies - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'malformation syndrome' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - albinism - digital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - albinism - digital anomalies' SubClassOf 'malformation syndrome' + 'Microcephaly - albinism - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398097 Label: Neonatal antiphospholipid syndrome - 'Neonatal antiphospholipid syndrome' SubClassOf 'disease' - 'Neonatal antiphospholipid syndrome' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal antiphospholipid syndrome' SubClassOf 'disease' + 'Neonatal antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_289857 Label: Neonatal glycine encephalopathy - 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal glycine encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Neonatal glycine encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' + 'Neonatal glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' + 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_141288 Label: Midline cervical cleft - 'Midline cervical cleft' SubClassOf 'part_of' some 'Median facial cleft' - 'Midline cervical cleft' SubClassOf 'morphological anomaly' + 'Midline cervical cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Midline cervical cleft' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121930 Label: FSHD region gene 1 - 'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' - 'FSHD region gene 1' SubClassOf 'gene' + 'FSHD region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string + 'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' + 'FSHD region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2514 Label: Autosomal dominant microcephaly - 'Autosomal dominant microcephaly' SubClassOf 'malformation syndrome' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Autosomal dominant microcephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Isolated congenital microcephaly' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant microcephaly' SubClassOf 'malformation syndrome' + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital microcephaly' + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123695 Label: neutrophil cytosolic factor 1 - 'neutrophil cytosolic factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' - 'neutrophil cytosolic factor 1' SubClassOf 'gene' + 'neutrophil cytosolic factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'neutrophil cytosolic factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'neutrophil cytosolic factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262896 Label: Partial duplication of the long arm of chromosome 8 - 'Partial duplication of the long arm of chromosome 8' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319332 Label: Autosomal recessive myogenic arthrogryposis multiplex congenita - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'disease' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284343 Label: Pleuropulmonary blastoma family tumor susceptibility syndrome - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'clinical subtype' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'clinical subtype' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_299148 Label: cholinergic receptor, muscarinic 3 - 'cholinergic receptor, muscarinic 3' SubClassOf 'gene' - 'cholinergic receptor, muscarinic 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prune belly syndrome' + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prune belly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_31043 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_189330 Label: ALX homeobox 3 - 'ALX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontorhiny' - 'ALX homeobox 3' SubClassOf 'gene' + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Frontorhiny' + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_226144 Label: CD247 molecule - 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'CD247 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' - 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'CD247 molecule' SubClassOf 'gene' + 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'CD247 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' + 'CD247 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'CD247 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2518 Label: Autosomal recessive chorioretinopathy-microcephaly - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'malformation syndrome' - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'malformation syndrome' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_300512 Label: Onychomatricoma - 'Onychomatricoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Onychomatricoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Onychomatricoma' SubClassOf 'part_of' some 'Rare nail tumor' - 'Onychomatricoma' SubClassOf 'disease' + 'Onychomatricoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nail tumor' + 'Onychomatricoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Onychomatricoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Onychomatricoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Onychomatricoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120803 Label: crumbs family member 1, photoreceptor morphogenesis associated - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'gene' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pigmented paravenous retinochoroidal atrophy' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pigmented paravenous retinochoroidal atrophy' Class: http://www.orpha.net/ORDO/Orphanet_189333 Label: microRNA 96 - 'microRNA 96' SubClassOf 'gene' - 'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'microRNA 96' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'microRNA 96' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2519 Label: Microcephaly - seizures - intellectual disability - heart disease - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'malformation syndrome' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'malformation syndrome' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121938 Label: fascin actin-bundling protein 2, retinal - 'fascin actin-bundling protein 2, retinal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'fascin actin-bundling protein 2, retinal' SubClassOf 'gene' + 'fascin actin-bundling protein 2, retinal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fascin actin-bundling protein 2, retinal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'fascin actin-bundling protein 2, retinal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216873 Label: Atypical pantothenate kinase-associated neurodegeneration - 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Pantothenate kinase-associated neurodegeneration' - 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pantothenate kinase-associated neurodegeneration' + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_300515 Label: Rare nail tumor - 'Rare nail tumor' SubClassOf 'group of disorders' + 'Rare nail tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189338 Label: SMAD family member 9 - 'SMAD family member 9' SubClassOf 'gene' - 'SMAD family member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'SMAD family member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SMAD family member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12-q14"^^http://www.w3.org/2001/XMLSchema#string + 'SMAD family member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_254827 Label: Mitochondrial membrane transport disorder - 'Mitochondrial membrane transport disorder' SubClassOf 'group of disorders' + 'Mitochondrial membrane transport disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85295 Label: HSD10 disease, atypical type - 'HSD10 disease, atypical type' SubClassOf 'clinical subtype' - 'HSD10 disease, atypical type' SubClassOf 'part_of' some 'HSD10 disease' - 'HSD10 disease, atypical type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'HSD10 disease, atypical type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'HSD10 disease, atypical type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'HSD10 disease, atypical type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HSD10 disease, atypical type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HSD10 disease' + 'HSD10 disease, atypical type' SubClassOf 'clinical subtype' + 'HSD10 disease, atypical type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'HSD10 disease, atypical type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_299156 Label: regulatory factor X, 6 - 'regulatory factor X, 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' - 'regulatory factor X, 6' SubClassOf 'gene' + 'regulatory factor X, 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X, 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X, 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2521 Label: Microcephaly - cleft palate - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Microcephaly - cleft palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - cleft palate' SubClassOf 'malformation syndrome' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Microcephaly - cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - cleft palate' SubClassOf 'malformation syndrome' + 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_85297 Label: X-linked spinocerebellar ataxia type 3 - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'malformation syndrome' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'malformation syndrome' + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked spinocerebellar ataxia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_289841 Label: Disorder of glutamine metabolism - 'Disorder of glutamine metabolism' SubClassOf 'group of disorders' + 'Disorder of glutamine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2522 Label: Microcephaly - cervical spine fusion anomalies - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'malformation syndrome' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'malformation syndrome' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254834 Label: Mitochondrial protein import disorder - 'Mitochondrial protein import disorder' SubClassOf 'group of disorders' + 'Mitochondrial protein import disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398088 Label: Hereditary cryohydrocytosis with normal stomatin - 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'disease' + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2523 Label: Microcephaly - brain defect - spasticity - hypernatremia - 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'malformation syndrome' + 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141276 Label: Commissural facial cleft - 'Commissural facial cleft' SubClassOf 'part_of' some 'Lateral facial cleft' - 'Commissural facial cleft' SubClassOf 'morphological anomaly' + 'Commissural facial cleft' SubClassOf 'morphological anomaly' + 'Commissural facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lateral facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2524 Label: Pontocerebellar hypoplasia type 2 - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pontocerebellar hypoplasia type 2' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_299152 Label: isocitrate dehydrogenase 1 (NADP+), soluble - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'gene' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_289846 Label: Glutathione synthetase deficiency with 5-oxoprolinuria - 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' - 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'part_of' some 'Glutathione synthetase deficiency' + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_121941 Label: follicle stimulating hormone, beta polypeptide - 'follicle stimulating hormone, beta polypeptide' SubClassOf 'gene' - 'follicle stimulating hormone, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated follicle stimulating hormone deficiency' + 'follicle stimulating hormone, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'follicle stimulating hormone, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'follicle stimulating hormone, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated follicle stimulating hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label: Microcephaly - lymphedema - chorioretinopathy - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254830 Label: Mitochondrial substrate carrier disorder - 'Mitochondrial substrate carrier disorder' SubClassOf 'group of disorders' + 'Mitochondrial substrate carrier disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121943 Label: follicle stimulating hormone receptor - 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarian hyperstimulation syndrome' - 'follicle stimulating hormone receptor' SubClassOf 'gene' + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21-p16"^^http://www.w3.org/2001/XMLSchema#string + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarian hyperstimulation syndrome' + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some '46,XX gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_85290 Label: X-linked intellectual disability, Wilson type - 'X-linked intellectual disability, Wilson type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Wilson type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Wilson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Wilson type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Wilson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99169 Label: Epiblepharon - 'Epiblepharon' SubClassOf 'part_of' some 'Eyelids malposition disorder' - 'Epiblepharon' SubClassOf 'morphological anomaly' + 'Epiblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyelids malposition disorder' + 'Epiblepharon' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85291 Label: X-linked intellectual disability, Wittwer type - 'X-linked intellectual disability, Wittwer type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Wittwer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85292 Label: X-linked spinocerebellar ataxia type 4 - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'disease' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'Rare dementia' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked spinocerebellar ataxia type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'disease' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_319340 Label: Carney complex-trismus-pseudocamptodactyly syndrome - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'disease' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Genetic cardiac tumor' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Rare cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'disease' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_85293 Label: X-linked intellectual disability, Cabezas type - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cabezas type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Cabezas type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284332 Label: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'disease' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'disease' + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_85294 Label: X-linked epilepsy - learning disabilities - behavior disorders - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'disease' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'disease' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2572 Label: Spastic ataxia - corneal dystrophy - 'Spastic ataxia - corneal dystrophy' SubClassOf 'disease' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spastic ataxia - corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Spastic ataxia - corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spastic ataxia - corneal dystrophy' SubClassOf 'disease' + 'Spastic ataxia - corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2571 Label: X-linked immunoneurologic disorder - 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked immunoneurologic disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked immunoneurologic disorder' SubClassOf 'disease' - 'X-linked immunoneurologic disorder' SubClassOf 'part_of' some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' - 'X-linked immunoneurologic disorder' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked immunoneurologic disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked immunoneurologic disorder' SubClassOf 'disease' + 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked immunoneurologic disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked immunoneurologic disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_93320 Label: Ulnar hemimelia - 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulnar hemimelia' SubClassOf 'morphological anomaly' - 'Ulnar hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Ulnar hemimelia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Ulnar hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' + 'Ulnar hemimelia' SubClassOf 'morphological anomaly' + 'Ulnar hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2574 Label: Moynahan syndrome - 'Moynahan syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Moynahan syndrome' SubClassOf 'malformation syndrome' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf 'malformation syndrome' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93321 Label: Radial hemimelia - 'Radial hemimelia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Radial hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Radial hemimelia' SubClassOf 'morphological anomaly' + 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Radial hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Radial hemimelia' SubClassOf 'morphological anomaly' + 'Radial hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_217656 Label: Familial isolated arrhythmogenic right ventricular dysplasia - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'disease' - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'part_of' some 'Arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'disease' + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2573 Label: Moyamoya disease - 'Moyamoya disease' SubClassOf 'disease' - 'Moyamoya disease' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Moyamoya disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Moyamoya disease' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Moyamoya disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'disease' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.086"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.048"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2570 Label: Morse-Rawnsley-Sargent syndrome - 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'malformation syndrome' + 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'malformation syndrome' + 'Morse-Rawnsley-Sargent syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_123631 Label: myosin, light chain 2, regulatory, cardiac, slow - 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'gene' - 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120865 Label: cystatin C - 'cystatin C' SubClassOf 'gene' - 'cystatin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' + 'cystatin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cystatin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystatin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' Class: http://www.orpha.net/ORDO/Orphanet_2579 Label: Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'disease' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'disease' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120860 Label: cysteine and glycine-rich protein 3 (cardiac LIM protein) - 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'gene' - 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2576 Label: MULIBREY nanism - 'MULIBREY nanism' SubClassOf 'malformation syndrome' - 'MULIBREY nanism' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'MULIBREY nanism' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'MULIBREY nanism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MULIBREY nanism' SubClassOf 'has_prevalence' some 'Unknown' - 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'MULIBREY nanism' SubClassOf 'malformation syndrome' + 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MULIBREY nanism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2575 Label: Cystic fibrosis - gastritis - megaloblastic anemia - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_2578 Label: MURCS association - 'MURCS association' SubClassOf 'part_of' some 'Mayer-Rokitansky-K�ster-Hauser syndrome' - 'MURCS association' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MURCS association' SubClassOf 'has_inheritance' some 'sporadic' - 'MURCS association' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MURCS association' SubClassOf 'clinical subtype' - 'MURCS association' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'MURCS association' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'MURCS association' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'MURCS association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mayer-Rokitansky-K�ster-Hauser syndrome' + 'MURCS association' SubClassOf 'clinical subtype' + 'MURCS association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'MURCS association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MURCS association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MURCS association' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'MURCS association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MURCS association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_100021 Label: Primary plasmacytoma of the bone - 'Primary plasmacytoma of the bone' SubClassOf 'part_of' some 'Plasmacytoma' - 'Primary plasmacytoma of the bone' SubClassOf 'clinical subtype' + 'Primary plasmacytoma of the bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasmacytoma' + 'Primary plasmacytoma of the bone' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121904 Label: forkhead box L2 - 'forkhead box L2' SubClassOf 'gene' - 'forkhead box L2' SubClassOf 'Role in the phenotype of' some 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' - 'forkhead box L2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' + 'forkhead box L2' SubClassOf 'Role in the phenotype of' some 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' + 'forkhead box L2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box L2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' + 'forkhead box L2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228410 Label: Polyvalvular heart disease syndrome - 'Polyvalvular heart disease syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Polyvalvular heart disease syndrome' SubClassOf 'malformation syndrome' - 'Polyvalvular heart disease syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polyvalvular heart disease syndrome' SubClassOf 'malformation syndrome' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Polyvalvular heart disease syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polyvalvular heart disease syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123628 Label: myosin, heavy chain 9, non-muscle - 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'MYH9-related disease' - 'myosin, heavy chain 9, non-muscle' SubClassOf 'gene' - 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'MYH9-related disease' + 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 9, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 9, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100020 Label: Refractory anemia with excess blasts type 2 - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts type 2' SubClassOf 'part_of' some 'Refractory anemia with excess blasts' - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia with excess blasts type 2' SubClassOf 'clinical subtype' - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_inheritance' some 'sporadic' + 'Refractory anemia with excess blasts type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory anemia with excess blasts' + 'Refractory anemia with excess blasts type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts type 2' SubClassOf 'clinical subtype' + 'Refractory anemia with excess blasts type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_100022 Label: Extramedullary soft tissue plasmacytoma - 'Extramedullary soft tissue plasmacytoma' SubClassOf 'part_of' some 'Plasmacytoma' - 'Extramedullary soft tissue plasmacytoma' SubClassOf 'clinical subtype' + 'Extramedullary soft tissue plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasmacytoma' + 'Extramedullary soft tissue plasmacytoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121900 Label: forkhead box E3 - 'forkhead box E3' SubClassOf 'gene' - 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' - 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital primary aphakia' + 'forkhead box E3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box E3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' + 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital primary aphakia' Class: http://www.orpha.net/ORDO/Orphanet_377743 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Papillary or follicular thyroid carcinoma' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Papillary or follicular thyroid carcinoma' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228415 Label: 5q35 microduplication syndrome - '5q35 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '5q35 microduplication syndrome' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 5' - '5q35 microduplication syndrome' SubClassOf 'malformation syndrome' - '5q35 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '5q35 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '5q35 microduplication syndrome' SubClassOf 'malformation syndrome' + '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '5q35 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5q35 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 5' + '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_213630 Label: Malignant peripheral neuroectodermal tumor of the corpus uteri - 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'disease' - 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' + 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'disease' + 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_120855 Label: colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) - 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'gene' - 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93316 Label: Spondylometaphyseal dysplasia, Schmidt type - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_285406 Label: zinc finger CCCH-type containing 14 - 'zinc finger CCCH-type containing 14' SubClassOf 'gene' - 'zinc finger CCCH-type containing 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'zinc finger CCCH-type containing 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger CCCH-type containing 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger CCCH-type containing 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228418 Label: Microcephaly - seizures - developmental delay - 'Microcephaly - seizures - developmental delay' SubClassOf 'disease' - 'Microcephaly - seizures - developmental delay' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - seizures - developmental delay' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Microcephaly - seizures - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - seizures - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Microcephaly - seizures - developmental delay' SubClassOf 'disease' + 'Microcephaly - seizures - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - seizures - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microcephaly - seizures - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_93315 Label: Spondylometaphyseal dysplasia, 'corner fracture' type - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93317 Label: Spondylometaphyseal dysplasia, Sedaghatian type - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'malformation syndrome' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'malformation syndrome' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100025 Label: Alpha heavy-chain disease - 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Alpha heavy-chain disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Alpha heavy-chain disease' SubClassOf 'clinical subtype' - 'Alpha heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' + 'Alpha heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' + 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alpha heavy-chain disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121908 Label: forkhead box O1 - 'forkhead box O1' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' - 'forkhead box O1' SubClassOf 'gene' + 'forkhead box O1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box O1' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' + 'forkhead box O1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93311 Label: Multiple epiphyseal dysplasia type 5 - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 5' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_100024 Label: Mu heavy-chain disease - 'Mu heavy-chain disease' SubClassOf 'clinical subtype' - 'Mu heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mu heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' - 'Mu heavy-chain disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mu heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' + 'Mu heavy-chain disease' SubClassOf 'clinical subtype' + 'Mu heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mu heavy-chain disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262869 Label: Partial trisomy of the long arm of chromosome 5 - 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93314 Label: Spondylometaphyseal dysplasia, Kozlowski type - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100026 Label: Gamma heavy-chain disease - 'Gamma heavy-chain disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gamma heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' - 'Gamma heavy-chain disease' SubClassOf 'clinical subtype' - 'Gamma heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gamma heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gamma heavy-chain disease' SubClassOf 'clinical subtype' + 'Gamma heavy-chain disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_2585 Label: Ataxia - pancytopenia - 'Ataxia - pancytopenia' SubClassOf 'malformation syndrome' - 'Ataxia - pancytopenia' SubClassOf 'part_of' some 'Rare genetic medullar disease' - 'Ataxia - pancytopenia' SubClassOf 'part_of' some 'Medullar disease' + 'Ataxia - pancytopenia' SubClassOf 'malformation syndrome' + 'Ataxia - pancytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' + 'Ataxia - pancytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_2584 Label: Classical mycosis fungoides - 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Classical mycosis fungoides' SubClassOf 'disease' - 'Classical mycosis fungoides' SubClassOf 'has_prevalence' some 'Unknown' - 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some 'sporadic' - 'Classical mycosis fungoides' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Classical mycosis fungoides' SubClassOf 'part_of' some 'Mycosis fungoides and variants' + 'Classical mycosis fungoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Classical mycosis fungoides' SubClassOf 'disease' + 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Classical mycosis fungoides' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_2583 Label: Mycetoma - 'Mycetoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Mycetoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Mycetoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mycetoma' SubClassOf 'part_of' some 'Rare mycosis' - 'Mycetoma' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Mycetoma' SubClassOf 'disease' + 'Mycetoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Mycetoma' SubClassOf 'disease' + 'Mycetoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_265457 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2582 Label: Myalgia-eosinophilia syndrome associated with tryptophan - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_inheritance' some 'sporadic' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'part_of' some 'Rare systemic disease' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'malformation syndrome' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'malformation syndrome' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_52688 Label: Myelodysplastic syndromes - 'Myelodysplastic syndromes' SubClassOf 'group of disorders' - 'Myelodysplastic syndromes' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myelodysplastic syndromes' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf 'group of disorders' + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "5.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_140162 Label: Inherited cancer-predisposing syndrome - 'Inherited cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2580 Label: Shoulder and girdle defects - familial intellectual disability - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'malformation syndrome' - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120873 Label: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 - 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataracts - facial dysmorphism - neuropathy' - 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'gene' + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q23"^^http://www.w3.org/2001/XMLSchema#string + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataracts - facial dysmorphism - neuropathy' + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291742 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209477 Label: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) - 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' - 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'gene' + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.32"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123641 Label: myosin XVA - 'myosin XVA' SubClassOf 'gene' - 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin XVA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin XVA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120876 Label: cystathionine gamma-lyase - 'cystathionine gamma-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystathioninuria' - 'cystathionine gamma-lyase' SubClassOf 'gene' + 'cystathionine gamma-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystathionine gamma-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1"^^http://www.w3.org/2001/XMLSchema#string + 'cystathionine gamma-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystathioninuria' Class: http://www.orpha.net/ORDO/Orphanet_123648 Label: myosin VI - 'myosin VI' SubClassOf 'gene' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' + 'myosin VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2589 Label: Myoclonus - cerebellar ataxia - deafness - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'malformation syndrome' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'malformation syndrome' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2588 Label: Myhre syndrome - 'Myhre syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Myhre syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Myhre syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myhre syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Myhre syndrome' SubClassOf 'malformation syndrome' - 'Myhre syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myhre syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Myhre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Myhre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Myhre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myhre syndrome' SubClassOf 'malformation syndrome' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2587 Label: Myeloperoxidase deficiency - 'Myeloperoxidase deficiency' SubClassOf 'disease' - 'Myeloperoxidase deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Myeloperoxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Myeloperoxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123645 Label: myosin VA (heavy chain 12, myoxin) - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'gene' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroectodermal melanolysosomal disease' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 1' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroectodermal melanolysosomal disease' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 1' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100034 Label: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'clinical subtype' - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100033 Label: Hypomaturation amelogenesis imperfecta - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypomaturation amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_100032 Label: Hypocalcified amelogenesis imperfecta - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'clinical subtype' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypocalcified amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_209470 Label: peripherin - 'peripherin' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' - 'peripherin' SubClassOf 'gene' + 'peripherin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'peripherin' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'peripherin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100031 Label: Hypoplastic amelogenesis imperfecta - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypoplastic amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_120867 Label: cystatin B (stefin B) - 'cystatin B (stefin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'cystatin B (stefin B)' SubClassOf 'gene' + 'cystatin B (stefin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'cystatin B (stefin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystatin B (stefin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121913 Label: forkhead box P3 - 'forkhead box P3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' - 'forkhead box P3' SubClassOf 'gene' + 'forkhead box P3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' + 'forkhead box P3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box P3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228423 Label: Monocytopenia with susceptibility to infections - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some 'sporadic' - 'Monocytopenia with susceptibility to infections' SubClassOf 'disease' - 'Monocytopenia with susceptibility to infections' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Monocytopenia with susceptibility to infections' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monocytopenia with susceptibility to infections' SubClassOf 'disease' + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_213620 Label: Sarcoma of the corpus uteri - 'Sarcoma of the corpus uteri' SubClassOf 'group of disorders' + 'Sarcoma of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101685 Label: Rare intellectual disability without developmental anomaly - 'Rare intellectual disability without developmental anomaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability' - 'Rare intellectual disability without developmental anomaly' SubClassOf 'part_of' some 'Rare intellectual disability' - 'Rare intellectual disability without developmental anomaly' SubClassOf 'disease' + 'Rare intellectual disability without developmental anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability' + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Rare intellectual disability without developmental anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability' + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209474 Label: EPH receptor A2 - 'EPH receptor A2' SubClassOf 'gene' - 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'EPH receptor A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'EPH receptor A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' Class: http://www.orpha.net/ORDO/Orphanet_93308 Label: Multiple epiphyseal dysplasia type 1 - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple epiphyseal dysplasia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228426 Label: Syndromic multisystem autoimmune disease due to Itch deficiency - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93307 Label: Multiple epiphyseal dysplasia type 4 - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple epiphyseal dysplasia type 4' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_262878 Label: Partial duplication of the long arm of chromosome 6 - 'Partial duplication of the long arm of chromosome 6' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228429 Label: Generalized congenital lipodystrophy with myopathy - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93304 Label: Autosomal dominant brachyolmia - 'Autosomal dominant brachyolmia' SubClassOf 'malformation syndrome' - 'Autosomal dominant brachyolmia' SubClassOf 'part_of' some 'Brachyolmia' - 'Autosomal dominant brachyolmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant brachyolmia' SubClassOf 'part_of' some 'TRPV4-related bone disorder' + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Autosomal dominant brachyolmia' SubClassOf 'malformation syndrome' + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Autosomal dominant brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93303 Label: Brachyolmia type 1, Toledo type - 'Brachyolmia type 1, Toledo type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia type 1, Toledo type' SubClassOf 'part_of' some 'Brachyolmia' - 'Brachyolmia type 1, Toledo type' SubClassOf 'malformation syndrome' - 'Brachyolmia type 1, Toledo type' SubClassOf 'part_of' some 'Sulfation-related bone disorder' + 'Brachyolmia type 1, Toledo type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia type 1, Toledo type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Brachyolmia type 1, Toledo type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachyolmia type 1, Toledo type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93302 Label: Brachyolmia, Maroteaux type - 'Brachyolmia, Maroteaux type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia, Maroteaux type' SubClassOf 'malformation syndrome' - 'Brachyolmia, Maroteaux type' SubClassOf 'part_of' some 'Brachyolmia' + 'Brachyolmia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia, Maroteaux type' SubClassOf 'malformation syndrome' + 'Brachyolmia, Maroteaux type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93301 Label: Brachyolmia type 1, Hobaek type - 'Brachyolmia type 1, Hobaek type' SubClassOf 'malformation syndrome' - 'Brachyolmia type 1, Hobaek type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia type 1, Hobaek type' SubClassOf 'part_of' some 'Brachyolmia' + 'Brachyolmia type 1, Hobaek type' SubClassOf 'malformation syndrome' + 'Brachyolmia type 1, Hobaek type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia type 1, Hobaek type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_213625 Label: Leiomyosarcoma of the corpus uteri - 'Leiomyosarcoma of the corpus uteri' SubClassOf 'disease' - 'Leiomyosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' + 'Leiomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Leiomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_100035 Label: Solitary necrotic tumor of the liver - 'Solitary necrotic tumor of the liver' SubClassOf 'part_of' some 'Inflammatory pseudotumor of the liver' - 'Solitary necrotic tumor of the liver' SubClassOf 'clinical subtype' + 'Solitary necrotic tumor of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory pseudotumor of the liver' + 'Solitary necrotic tumor of the liver' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_262851 Label: Partial duplication of the long arm of chromosome 3 - 'Partial duplication of the long arm of chromosome 3' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217632 Label: Restrictive cardiomyopathy - 'Restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217635 Label: Familial restrictive cardiomyopathy - 'Familial restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Familial restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2552 Label: Microsporidiosis - 'Microsporidiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Microsporidiosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Microsporidiosis' SubClassOf 'disease' - 'Microsporidiosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Microsporidiosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Microsporidiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Microsporidiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Microsporidiosis' SubClassOf 'disease' + 'Microsporidiosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2551 Label: Microspherophakia - metaphyseal dysplasia - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'malformation syndrome' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'part_of' some 'Lens size anomaly' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2554 Label: Ear-patella-short stature syndrome - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ear-patella-short stature syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ear-patella-short stature syndrome' SubClassOf 'malformation syndrome' - 'Ear-patella-short stature syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ear-patella-short stature syndrome' SubClassOf 'malformation syndrome' + 'Ear-patella-short stature syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ear-patella-short stature syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123659 Label: myocilin, trabecular meshwork inducible glucocorticoid response - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile glaucoma' - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'gene' + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile glaucoma' + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_2556 Label: Microphthalmia with linear skin defects syndrome - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'malformation syndrome' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'malformation syndrome' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microphthalmia with linear skin defects syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_217638 Label: Lysosomal disease with restrictive cardiomyopathy - 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123653 Label: myosin VIIA - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin VIIA' SubClassOf 'gene' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.5"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_2558 Label: Mikati-Najjar-Sahli syndrome - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'malformation syndrome' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'malformation syndrome' + 'Mikati-Najjar-Sahli syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Mikati-Najjar-Sahli syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2557 Label: Mietens syndrome - 'Mietens syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Mietens syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mietens syndrome' SubClassOf 'malformation syndrome' - 'Mietens syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Mietens syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mietens syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Mietens syndrome' SubClassOf 'malformation syndrome' + 'Mietens syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Mietens syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120841 Label: crystallin, beta B2 - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'crystallin, beta B2' SubClassOf 'gene' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, beta B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'crystallin, beta B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120836 Label: crystallin, beta A1 - 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'crystallin, beta A1' SubClassOf 'gene' - 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'crystallin, beta A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2-q12"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' Class: http://www.orpha.net/ORDO/Orphanet_311424 Label: RAB33B, member RAS oncogene family - 'RAB33B, member RAS oncogene family' SubClassOf 'gene' - 'RAB33B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' + 'RAB33B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28"^^http://www.w3.org/2001/XMLSchema#string + 'RAB33B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB33B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_308712 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_331934 Label: wingless-type MMTV integration site family, member 1 - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'wingless-type MMTV integration site family, member 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteogenesis imperfecta type 3' + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteogenesis imperfecta type 4' Class: http://www.orpha.net/ORDO/Orphanet_120839 Label: crystallin, beta A4 - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, beta A4' SubClassOf 'gene' + 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, beta A4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta A4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100001 Label: Sclerosing perineurioma - 'Sclerosing perineurioma' SubClassOf 'part_of' some 'Extraneural perineurioma' - 'Sclerosing perineurioma' SubClassOf 'clinical subtype' + 'Sclerosing perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extraneural perineurioma' + 'Sclerosing perineurioma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100000 Label: Reticular perineurioma - 'Reticular perineurioma' SubClassOf 'clinical subtype' - 'Reticular perineurioma' SubClassOf 'part_of' some 'Extraneural perineurioma' + 'Reticular perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extraneural perineurioma' + 'Reticular perineurioma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100003 Label: Intraneural perineurioma - 'Intraneural perineurioma' SubClassOf 'disease' - 'Intraneural perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Intraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' + 'Intraneural perineurioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100002 Label: Extraneural perineurioma - 'Extraneural perineurioma' SubClassOf 'disease' - 'Extraneural perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Extraneural perineurioma' SubClassOf 'disease' + 'Extraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_242335 Label: solute carrier organic anion transporter family, member 5A1 - 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' - 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_220295 Label: Xeroderma pigmentosum-Cockayne syndrome complex - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Premature aging' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_100006 Label: Hereditary cerebral hemorrhage with amyloidosis, Dutch type - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_242331 Label: sulfatase 1 - 'sulfatase 1' SubClassOf 'gene' - 'sulfatase 1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100008 Label: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2563 Label: MOMO syndrome - 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MOMO syndrome' SubClassOf 'malformation syndrome' - 'MOMO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MOMO syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MOMO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'MOMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'MOMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MOMO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MOMO syndrome' SubClassOf 'malformation syndrome' + 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_262860 Label: Partial duplication of the long arm of chromosome 4 - 'Partial duplication of the long arm of chromosome 4' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156077 Label: NK2 homeobox 1 - 'NK2 homeobox 1' SubClassOf 'gene' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain-lung-thyroid syndrome' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial chorea' - 'NK2 homeobox 1' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain-lung-thyroid syndrome' + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial chorea' + 'NK2 homeobox 1' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' + 'NK2 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'NK2 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_217622 Label: Sensorineural deafness with dilated cardiomyopathy - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'disease' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'disease' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2561 Label: Ackerman syndrome - 'Ackerman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ackerman syndrome' SubClassOf 'malformation syndrome' - 'Ackerman syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ackerman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Ackerman syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ackerman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ackerman syndrome' SubClassOf 'malformation syndrome' + 'Ackerman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ackerman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2560 Label: M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'malformation syndrome' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'sporadic' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123669 Label: N-acetylgalactosaminidase, alpha- - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'gene' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 3' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 2' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 1' + 'N-acetylgalactosaminidase, alpha-' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylgalactosaminidase, alpha-' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 3' + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 2' + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 1' Class: http://www.orpha.net/ORDO/Orphanet_2566 Label: Susceptibility to chronic infection by Epstein-Barr virus - 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'part_of' some 'Rare viral disease' + 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_2565 Label: Mononen-Karnes-Senac syndrome - 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' + 'Mononen-Karnes-Senac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mononen-Karnes-Senac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_331931 Label: heterogeneous nuclear ribonucleoprotein A1 - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'gene' - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2564 Label: Tetramelic monodactyly - 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' - 'Tetramelic monodactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Tetramelic monodactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_120852 Label: crystallin, gamma D - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, gamma D' SubClassOf 'gene' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coralliform cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coralliform cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, gamma D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, gamma D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' Class: http://www.orpha.net/ORDO/Orphanet_123664 Label: myotilin - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1A' - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myotilinopathy' - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spheroid body myopathy' - 'myotilin' SubClassOf 'gene' + 'myotilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1A' + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myotilinopathy' + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spheroid body myopathy' + 'myotilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_217629 Label: Non-familial dilated cardiomyopathy - 'Non-familial dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377752 Label: ATP synthase mitochondrial F1 complex assembly factor 1 - 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'Candidate gene tested in' some 'Isolated ATP synthase deficiency' - 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'gene' + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'Candidate gene tested in' some 'Isolated ATP synthase deficiency' + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p33-p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228402 Label: 2q23.1 microdeletion syndrome - '2q23.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q23.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q23.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_331927 Label: heterogeneous nuclear ribonucleoprotein A2/B1 - 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' - 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'gene' + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_120846 Label: crystallin, beta B3 - 'crystallin, beta B3' SubClassOf 'gene' - 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' - 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' + 'crystallin, beta B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' Class: http://www.orpha.net/ORDO/Orphanet_100012 Label: Lissencephaly with cerebellar hypoplasia type B - 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120849 Label: crystallin, gamma C - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, gamma C' SubClassOf 'gene' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, gamma C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'crystallin, gamma C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100011 Label: Lissencephaly with cerebellar hypoplasia type A - 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100016 Label: Lissencephaly with cerebellar hypoplasia type F - 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100015 Label: Lissencephaly with cerebellar hypoplasia type E - 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100014 Label: Lissencephaly with cerebellar hypoplasia type D - 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'malformation syndrome' - 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_319308 Label: Translocation renal cell carcinoma - 'Translocation renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Translocation renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Translocation renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Translocation renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_100013 Label: Lissencephaly with cerebellar hypoplasia type C - 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'malformation syndrome' - 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_156071 Label: Keratoconus - 'Keratoconus' SubClassOf 'group of disorders' + 'Keratoconus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100019 Label: Refractory anemia with excess blasts type 1 - 'Refractory anemia with excess blasts type 1' SubClassOf 'part_of' some 'Refractory anemia with excess blasts' - 'Refractory anemia with excess blasts type 1' SubClassOf 'clinical subtype' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Refractory anemia with excess blasts type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory anemia with excess blasts' + 'Refractory anemia with excess blasts type 1' SubClassOf 'clinical subtype' + 'Refractory anemia with excess blasts type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_319303 Label: Chromophobe renal cell carcinoma - 'Chromophobe renal cell carcinoma' SubClassOf 'histopathological subtype' - 'Chromophobe renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Chromophobe renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Chromophobe renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_33108 Label: Lethal multiple pterygium syndrome - 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple pterygium syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lethal multiple pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple pterygium syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_329191 Label: Tall stature - scoliosis - macrodactyly of the great toes - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'disease' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'disease' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93365 Label: CINCA syndrome with NLRP3 mutations - 'CINCA syndrome with NLRP3 mutations' SubClassOf 'clinical subtype' - 'CINCA syndrome with NLRP3 mutations' SubClassOf 'part_of' some 'CINCA syndrome' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome with NLRP3 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CINCA syndrome' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_401815 Label: Autosomal recessive spastic paraplegia type 66 - 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 66' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401810 Label: Autosomal recessive spastic paraplegia type 64 - 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_403958 Label: prickle homolog 2 (Drosophila) - 'prickle homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 5' - 'prickle homolog 2 (Drosophila)' SubClassOf 'gene' + 'prickle homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 5' + 'prickle homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'prickle homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93360 Label: Spondyloepimetaphyseal dysplasia with multiple dislocations - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329195 Label: Developmental delay with autism spectrum disorder and gait instability - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'part_of' some 'Rare disease with autism' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'disease' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'disease' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_181437 Label: Rare syndromic dyslipidemia - 'Rare syndromic dyslipidemia' SubClassOf 'group of disorders' + 'Rare syndromic dyslipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93359 Label: Spondyloepimetaphyseal dysplasia with joint laxity - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306519 Label: Familial primary hypomagnesemia with hypocalcuria - 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315424 Label: lin-28 homolog B (C. elegans) - 'lin-28 homolog B (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' - 'lin-28 homolog B (C. elegans)' SubClassOf 'gene' + 'lin-28 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lin-28 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'lin-28 homolog B (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_306516 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315421 Label: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 - 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'gene' - 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_93356 Label: Spondyloepimetaphyseal dysplasia, Missouri type - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_33110 Label: Autosomal agammaglobulinemia - 'Autosomal agammaglobulinemia' SubClassOf 'part_of' some 'Isolated agammaglobulinemia' - 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal agammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal agammaglobulinemia' SubClassOf 'clinical subtype' + 'Autosomal agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated agammaglobulinemia' + 'Autosomal agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal agammaglobulinemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_181441 Label: Rare disorder with hypergonadotropic hypogonadism - 'Rare disorder with hypergonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with hypergonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93357 Label: SPONASTRIME dysplasia - 'SPONASTRIME dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'SPONASTRIME dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'SPONASTRIME dysplasia' SubClassOf 'disease' + 'SPONASTRIME dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'SPONASTRIME dysplasia' SubClassOf 'disease' + 'SPONASTRIME dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93358 Label: Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_354117 Label: SH3 and cysteine rich domain 3 - 'SH3 and cysteine rich domain 3' SubClassOf 'gene' - 'SH3 and cysteine rich domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Native American myopathy' + 'SH3 and cysteine rich domain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH3 and cysteine rich domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Native American myopathy' + 'SH3 and cysteine rich domain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_242313 Label: 4-hydroxy-2-oxoglutarate aldolase 1 - '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'gene' - '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 3' + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 3' Class: http://www.orpha.net/ORDO/Orphanet_306511 Label: Autosomal recessive spastic paraplegia type 48 - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_33111 Label: Granulomatous slack skin - 'Granulomatous slack skin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Granulomatous slack skin' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Granulomatous slack skin' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Granulomatous slack skin' SubClassOf 'has_inheritance' some 'sporadic' - 'Granulomatous slack skin' SubClassOf 'disease' - 'Granulomatous slack skin' SubClassOf 'part_of' some 'Mycosis fungoides and variants' + 'Granulomatous slack skin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Granulomatous slack skin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Granulomatous slack skin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Granulomatous slack skin' SubClassOf 'disease' + 'Granulomatous slack skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Granulomatous slack skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_90103 Label: Charcot-Marie-Tooth disease - deafness - intellectual disability - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'malformation syndrome' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_160253 Label: MDS1 and EVI1 complex locus - 'MDS1 and EVI1 complex locus' SubClassOf 'gene' - 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Myelodysplastic syndromes' + 'MDS1 and EVI1 complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' + 'MDS1 and EVI1 complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_286552 Label: acylglycerol kinase - 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' - 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' - 'acylglycerol kinase' SubClassOf 'gene' + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' + 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160236 Label: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 2' - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'gene' + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_123600 Label: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 1' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'gene' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Candidate gene tested in' some 'Unilateral retinoblastoma' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123603 Label: myogenic factor 6 (herculin) - 'myogenic factor 6 (herculin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'myogenic factor 6 (herculin)' SubClassOf 'gene' + 'myogenic factor 6 (herculin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'myogenic factor 6 (herculin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21"^^http://www.w3.org/2001/XMLSchema#string + 'myogenic factor 6 (herculin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291703 Label: proline-rich transmembrane protein 2 - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia' - 'proline-rich transmembrane protein 2' SubClassOf 'gene' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' + 'proline-rich transmembrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_286557 Label: histone cell cycle regulator - 'histone cell cycle regulator' SubClassOf 'gene' - 'histone cell cycle regulator' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'histone cell cycle regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'histone cell cycle regulator' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'histone cell cycle regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_84142 Label: Isaac syndrome - 'Isaac syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Isaac syndrome' SubClassOf 'disease' - 'Isaac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isaac syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Isaac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Isaac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isaac syndrome' SubClassOf 'disease' + 'Isaac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99101 Label: Ectasia of the right atrial appendage - 'Ectasia of the right atrial appendage' SubClassOf 'part_of' some 'Atrial appendage anomaly' - 'Ectasia of the right atrial appendage' SubClassOf 'morphological anomaly' + 'Ectasia of the right atrial appendage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' + 'Ectasia of the right atrial appendage' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99100 Label: Juxtaposition of the atrial appendages - 'Juxtaposition of the atrial appendages' SubClassOf 'morphological anomaly' - 'Juxtaposition of the atrial appendages' SubClassOf 'part_of' some 'Atrial appendage anomaly' + 'Juxtaposition of the atrial appendages' SubClassOf 'morphological anomaly' + 'Juxtaposition of the atrial appendages' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401805 Label: Autosomal recessive spastic paraplegia type 63 - 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 63' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_181422 Label: Rare hyperlipidemia - 'Rare hyperlipidemia' SubClassOf 'group of disorders' + 'Rare hyperlipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99103 Label: Atrial septal defect, ostium secundum type - 'Atrial septal defect, ostium secundum type' SubClassOf 'part_of' some 'Interauricular communication' - 'Atrial septal defect, ostium secundum type' SubClassOf 'clinical subtype' + 'Atrial septal defect, ostium secundum type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, ostium secundum type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93352 Label: Spondyloepimetaphyseal dysplasia, Shohat type - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99102 Label: Ectasia of the left appendage - 'Ectasia of the left appendage' SubClassOf 'morphological anomaly' - 'Ectasia of the left appendage' SubClassOf 'part_of' some 'Atrial appendage anomaly' + 'Ectasia of the left appendage' SubClassOf 'morphological anomaly' + 'Ectasia of the left appendage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93351 Label: Spondyloepimetaphyseal dysplasia, Irapa type - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_prevalence' some 'Unknown' + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_268103 Label: zinc finger and BTB domain containing 24 - 'zinc finger and BTB domain containing 24' SubClassOf 'gene' - 'zinc finger and BTB domain containing 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' + 'zinc finger and BTB domain containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger and BTB domain containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger and BTB domain containing 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99105 Label: Atrial septal defect, sinus venosus type - 'Atrial septal defect, sinus venosus type' SubClassOf 'part_of' some 'Interauricular communication' - 'Atrial septal defect, sinus venosus type' SubClassOf 'clinical subtype' + 'Atrial septal defect, sinus venosus type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, sinus venosus type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_401800 Label: Autosomal recessive spastic paraplegia type 60 - 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 60' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181425 Label: Major hypertriglyceridemia - 'Major hypertriglyceridemia' SubClassOf 'group of disorders' + 'Major hypertriglyceridemia' SubClassOf 'group of disorders' + 'Major hypertriglyceridemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Major hypertriglyceridemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_262842 Label: Partial duplication of the long arm of chromosome 2 - 'Partial duplication of the long arm of chromosome 2' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99104 Label: Atrial septal defect, coronary sinus type - 'Atrial septal defect, coronary sinus type' SubClassOf 'clinical subtype' - 'Atrial septal defect, coronary sinus type' SubClassOf 'part_of' some 'Interauricular communication' + 'Atrial septal defect, coronary sinus type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, coronary sinus type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119592 Label: aldehyde dehydrogenase 5 family, member A1 - 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'gene' - 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some '4-hydroxybutyric aciduria' + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22"^^http://www.w3.org/2001/XMLSchema#string + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some '4-hydroxybutyric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_99107 Label: Atrial septal aneurysm - 'Atrial septal aneurysm' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Atrial septal aneurysm' SubClassOf 'morphological anomaly' + 'Atrial septal aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Atrial septal aneurysm' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99106 Label: Atrial septal defect, ostium primum type - 'Atrial septal defect, ostium primum type' SubClassOf 'clinical subtype' - 'Atrial septal defect, ostium primum type' SubClassOf 'part_of' some 'Interauricular communication' + 'Atrial septal defect, ostium primum type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, ostium primum type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_181428 Label: Hyperalphalipoproteinemia - 'Hyperalphalipoproteinemia' SubClassOf 'group of disorders' + 'Hyperalphalipoproteinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119596 Label: aldehyde dehydrogenase 7 family, member A1 - 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxine-dependent epilepsy' - 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'gene' + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxine-dependent epilepsy' + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93349 Label: X-linked spondyloepimetaphyseal dysplasia - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'disease' + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'disease' + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_315413 Label: ATP-binding cassette, sub-family D (ALD), member 4 - 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblJ' - 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf 'gene' + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Methylmalonic acidemia with homocystinuria, type cblJ' Class: http://www.orpha.net/ORDO/Orphanet_306507 Label: LAMB2-related infantile-onset nephrotic syndrome - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital and infantile nephrotic syndrome' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119599 Label: aldolase A, fructose-bisphosphate - 'aldolase A, fructose-bisphosphate' SubClassOf 'gene' - 'aldolase A, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to aldolase A deficiency' + 'aldolase A, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldolase A, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'aldolase A, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to aldolase A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_262833 Label: Partial duplication of the long arm of chromosome 1 - 'Partial duplication of the long arm of chromosome 1' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93346 Label: Spondyloepimetaphyseal dysplasia congenita, Strudwick type - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_242325 Label: dispatched homolog 1 (Drosophila) - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'gene' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.12"^^http://www.w3.org/2001/XMLSchema#string + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_93347 Label: Anauxetic dysplasia - 'Anauxetic dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Anauxetic dysplasia' SubClassOf 'disease' - 'Anauxetic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Anauxetic dysplasia' SubClassOf 'disease' + 'Anauxetic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anauxetic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_181431 Label: Rare hypolipidemia - 'Rare hypolipidemia' SubClassOf 'group of disorders' + 'Rare hypolipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_286549 Label: calcium channel, voltage-dependent, T type, alpha 1H subunit - 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160240 Label: espin - 'espin' SubClassOf 'gene' - 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'espin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.31"^^http://www.w3.org/2001/XMLSchema#string + 'espin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_306504 Label: Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_160244 Label: estrogen-related receptor beta - 'estrogen-related receptor beta' SubClassOf 'gene' - 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'estrogen-related receptor beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'estrogen-related receptor beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_286546 Label: chromosome 9 open reading frame 72 - 'chromosome 9 open reading frame 72' SubClassOf 'gene' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like syndrome due to C9ORF72 expansions' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'chromosome 9 open reading frame 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like syndrome due to C9ORF72 expansions' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'chromosome 9 open reading frame 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2597 Label: Mitochondrial myopathy - lactic acidosis - deafness - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'disease' - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'disease' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2598 Label: Mitochondrial myopathy and sideroblastic anemia - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label: catenin (cadherin-associated protein), beta 1, 88kDa - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilomatrixoma' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'gene' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive spastic diplegia syndrome' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilomatrixoma' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive spastic diplegia syndrome' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' Class: http://www.orpha.net/ORDO/Orphanet_123615 Label: myosin, heavy chain 2, skeletal muscle, adult - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'gene' - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_123610 Label: myosin, heavy chain 14, non-muscle - 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin, heavy chain 14, non-muscle' SubClassOf 'gene' - 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' + 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 14, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' + 'myosin, heavy chain 14, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120884 Label: cystinosin, lysosomal cystine transporter - 'cystinosin, lysosomal cystine transporter' SubClassOf 'gene' - 'cystinosin, lysosomal cystine transporter' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinosis' + 'cystinosin, lysosomal cystine transporter' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystinosin, lysosomal cystine transporter' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string + 'cystinosin, lysosomal cystine transporter' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinosis' Class: http://www.orpha.net/ORDO/Orphanet_181419 Label: Rare hypoaldosteronism - 'Rare hypoaldosteronism' SubClassOf 'group of disorders' + 'Rare hypoaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119583 Label: aldehyde dehydrogenase 3 family, member A2 - 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sj�gren-Larsson syndrome' - 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'gene' + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sj�gren-Larsson syndrome' + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2590 Label: Hereditary myoclonus - progressive distal muscular atrophy - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'disease' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'part_of' some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'disease' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2591 Label: Infantile myofibromatosis - 'Infantile myofibromatosis' SubClassOf 'disease' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Infantile myofibromatosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Muscular tumor' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Genetic skin tumor' + 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile myofibromatosis' SubClassOf 'disease' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic soft tissue tumor' + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular tumor' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Infantile myofibromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_181415 Label: Rare primary hyperaldosteronism - 'Rare primary hyperaldosteronism' SubClassOf 'group of disorders' + 'Rare primary hyperaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181412 Label: Adrenogenital syndrome - 'Adrenogenital syndrome' SubClassOf 'group of disorders' + 'Adrenogenital syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2593 Label: Tubular aggregate myopathy - 'Tubular aggregate myopathy' SubClassOf 'disease' - 'Tubular aggregate myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Tubular aggregate myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tubular aggregate myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tubular aggregate myopathy' SubClassOf 'disease' + 'Tubular aggregate myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_217678 Label: Unclassified cardiomyopathy - 'Unclassified cardiomyopathy' SubClassOf 'group of disorders' + 'Unclassified cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2596 Label: Myopathy and diabetes mellitus - 'Myopathy and diabetes mellitus' SubClassOf 'disease' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Myopathy and diabetes mellitus' SubClassOf 'disease' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93333 Label: Pelviscapular dysplasia - 'Pelviscapular dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelviscapular dysplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Pelviscapular dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelviscapular dysplasia' SubClassOf 'disease' - 'Pelviscapular dysplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pelviscapular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelviscapular dysplasia' SubClassOf 'disease' + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Pelviscapular dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_213615 Label: Rhabdomyosarcoma of the corpus uteri - 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' - 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_262803 Label: Partial duplication of the short arm of chromosome 17 - 'Partial duplication of the short arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93334 Label: Postaxial polydactyly type A - 'Postaxial polydactyly type A' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Postaxial polydactyly type A' SubClassOf 'part_of' some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type A' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93335 Label: Postaxial polydactyly type B - 'Postaxial polydactyly type B' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly type B' SubClassOf 'part_of' some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type B' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_93336 Label: Polydactyly of a triphalangeal thumb - 'Polydactyly of a triphalangeal thumb' SubClassOf 'morphological anomaly' - 'Polydactyly of a triphalangeal thumb' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polydactyly of a triphalangeal thumb' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Polydactyly of a triphalangeal thumb' SubClassOf 'morphological anomaly' + 'Polydactyly of a triphalangeal thumb' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of a triphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_93337 Label: Polydactyly of an index finger - 'Polydactyly of an index finger' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polydactyly of an index finger' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polydactyly of an index finger' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polydactyly of an index finger' SubClassOf 'morphological anomaly' - 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polydactyly of an index finger' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polydactyly of an index finger' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' + 'Polydactyly of an index finger' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polydactyly of an index finger' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93338 Label: Polysyndactyly - 'Polysyndactyly' SubClassOf 'morphological anomaly' - 'Polysyndactyly' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polysyndactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Polysyndactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polysyndactyly' SubClassOf 'morphological anomaly' + 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_119588 Label: aldehyde dehydrogenase 4 family, member A1 - 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'gene' - 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 2' + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 2' Class: http://www.orpha.net/ORDO/Orphanet_213610 Label: Malignant mixed m�llerian tumor of the corpus uteri - 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'disease' - 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'disease' + 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_93339 Label: Polydactyly of a biphalangeal thumb - 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'morphological anomaly' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polydactyly of a biphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'morphological anomaly' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_160278 Label: intraflagellar transport 80 - 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'intraflagellar transport 80' SubClassOf 'gene' - 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'intraflagellar transport 80' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 80' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209484 Label: NIMA-related kinase 8 - 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' - 'NIMA-related kinase 8' SubClassOf 'gene' - 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal-hepatic-pancreatic dysplasia' + 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Renal-hepatic-pancreatic dysplasia' + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120878 Label: cytotoxic T-lymphocyte-associated protein 4 - 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' - 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'gene' + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123606 Label: myosin, heavy chain 11, smooth muscle - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'gene' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial aortic dissection' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'myosin, heavy chain 11, smooth muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Candidate gene tested in' some 'Familial aortic dissection' + 'myosin, heavy chain 11, smooth muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209481 Label: growth differentiation factor 6 - 'growth differentiation factor 6' SubClassOf 'gene' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'growth differentiation factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'growth differentiation factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_120892 Label: cathepsin C - 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haim-Munk syndrome' - 'cathepsin C' SubClassOf 'gene' - 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Papillon-Lef�vre syndrome' + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Papillon-Lef�vre syndrome' + 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haim-Munk syndrome' + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_377705 Label: integrin, alpha 9 - 'integrin, alpha 9' SubClassOf 'Candidate gene tested in' some 'Congenital muscular dystrophy with hyperlaxity' - 'integrin, alpha 9' SubClassOf 'gene' + 'integrin, alpha 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, alpha 9' SubClassOf 'Candidate gene tested in' some 'Congenital muscular dystrophy with hyperlaxity' Class: http://www.orpha.net/ORDO/Orphanet_123626 Label: myosin, heavy chain 8, skeletal muscle, perinatal - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex-trismus-pseudocamptodactyly syndrome' - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trismus - pseudocamptodactyly' - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'gene' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex-trismus-pseudocamptodactyly syndrome' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trismus - pseudocamptodactyly' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90120 Label: Hereditary motor and sensory neuropathy type 6 - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'disease' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_160257 Label: GLE1 RNA export mediator - 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arthrogryposis - anterior horn cell disease' - 'GLE1 RNA export mediator' SubClassOf 'gene' - 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 1' + 'GLE1 RNA export mediator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string + 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arthrogryposis - anterior horn cell disease' + 'GLE1 RNA export mediator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_123621 Label: myosin, heavy chain 7, cardiac muscle, beta - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaline body myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'gene' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laing early-onset distal myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ebstein malformation' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaline body myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laing early-onset distal myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ebstein malformation' Class: http://www.orpha.net/ORDO/Orphanet_181408 Label: Rare hyperparathyroidism - 'Rare hyperparathyroidism' SubClassOf 'group of disorders' + 'Rare hyperparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120897 Label: cathepsin K - 'cathepsin K' SubClassOf 'gene' - 'cathepsin K' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pycnodysostosis' + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pycnodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_285468 Label: WD repeat domain 19 - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' - 'WD repeat domain 19' SubClassOf 'gene' + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'WD repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p14"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_181405 Label: Rare hypoparathyroidism - 'Rare hypoparathyroidism' SubClassOf 'group of disorders' + 'Rare hypoparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119573 Label: aminolevulinate, delta-, synthase 2 - 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked sideroblastic anemia' - 'aminolevulinate, delta-, synthase 2' SubClassOf 'gene' - 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythropoietic protoporphyria' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Erythropoietic protoporphyria' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.21"^^http://www.w3.org/2001/XMLSchema#string + 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked sideroblastic anemia' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_181402 Label: Syndrome with hypoparathyroidism - 'Syndrome with hypoparathyroidism' SubClassOf 'group of disorders' + 'Syndrome with hypoparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93324 Label: Autosomal recessive Kenny-Caffey syndrome - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Kenny-Caffey syndrome' - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'etiological subtype' + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kenny-Caffey syndrome' + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119578 Label: aldehyde dehydrogenase 18 family, member A1 - 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALDH18A1-related De Barsy syndrome' - 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'gene' + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALDH18A1-related De Barsy syndrome' + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3-q24.6"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93325 Label: Autosomal dominant Kenny-Caffey syndrome - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'etiological subtype' - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Kenny-Caffey syndrome' + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kenny-Caffey syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213605 Label: Carcinofibroma of the corpus uteri - 'Carcinofibroma of the corpus uteri' SubClassOf 'disease' - 'Carcinofibroma of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Carcinofibroma of the corpus uteri' SubClassOf 'disease' + 'Carcinofibroma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_93322 Label: Tibial hemimelia - 'Tibial hemimelia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'sporadic' - 'Tibial hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Tibial hemimelia' SubClassOf 'morphological anomaly' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Tibial hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' + 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tibial hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tibial hemimelia' SubClassOf 'morphological anomaly' + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_210272 Label: Mal de d�barquement - 'Mal de d�barquement' SubClassOf 'clinical syndrome' - 'Mal de d�barquement' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' + 'Mal de d�barquement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Mal de d�barquement' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93323 Label: Fibular hemimelia - 'Fibular hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Fibular hemimelia' SubClassOf 'morphological anomaly' - 'Fibular hemimelia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Fibular hemimelia' SubClassOf 'morphological anomaly' + 'Fibular hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibular hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_93328 Label: Autosomal dominant omodysplasia - 'Autosomal dominant omodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant omodysplasia' SubClassOf 'clinical subtype' - 'Autosomal dominant omodysplasia' SubClassOf 'part_of' some 'Omodysplasia' + 'Autosomal dominant omodysplasia' SubClassOf 'clinical subtype' + 'Autosomal dominant omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant omodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Omodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90118 Label: Severe early-onset axonal neuropathy due to MFN2 deficiency - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'disease' - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'disease' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_262812 Label: Partial trisomy/tetrasomy of the short arm of chromosome 18 - 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93329 Label: Autosomal recessive omodysplasia - 'Autosomal recessive omodysplasia' SubClassOf 'part_of' some 'Omodysplasia' - 'Autosomal recessive omodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive omodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive omodysplasia' SubClassOf 'clinical subtype' - 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive omodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Omodysplasia' + 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive omodysplasia' SubClassOf 'clinical subtype' + 'Autosomal recessive omodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_90119 Label: Axonal Charcot-Marie-Tooth disease with acrodystrophy - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'disease' - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119576 Label: albumin - 'albumin' SubClassOf 'gene' - 'albumin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital analbuminemia' + 'albumin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital analbuminemia' + 'albumin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'albumin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213600 Label: Adenosarcoma of the corpus uteri - 'Adenosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' - 'Adenosarcoma of the corpus uteri' SubClassOf 'disease' + 'Adenosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Adenosarcoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90114 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160265 Label: interleukin 2 receptor, alpha - 'interleukin 2 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to CD25 deficiency' - 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'interleukin 2 receptor, alpha' SubClassOf 'gene' - 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'interleukin 2 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15-p14"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 2 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to CD25 deficiency' + 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'interleukin 2 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_120888 Label: cathepsin A - 'cathepsin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactosialidosis' - 'cathepsin A' SubClassOf 'gene' + 'cathepsin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactosialidosis' + 'cathepsin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90117 Label: Hereditary motor and sensory neuropathy, Okinawa type - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_354122 Label: mitochondrial genome maintenance exonuclease 1 - 'mitochondrial genome maintenance exonuclease 1' SubClassOf 'gene' - 'mitochondrial genome maintenance exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive external ophthalmoplegia - myopathy - emaciation' + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive external ophthalmoplegia - myopathy - emaciation' Class: http://www.orpha.net/ORDO/Orphanet_123619 Label: myosin, heavy chain 6, cardiac muscle, alpha - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'gene' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial isolated dilated cardiomyopathy' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial sick sinus syndrome' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial isolated dilated cardiomyopathy' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123617 Label: myosin, heavy chain 3, skeletal muscle, embryonic - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'gene' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Freeman-Sheldon syndrome' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Freeman-Sheldon syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119411 Label: cholinergic receptor, nicotinic, alpha 1 (muscle) - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306648 Label: Non-infectious anterior uveitis - 'Non-infectious anterior uveitis' SubClassOf 'group of disorders' + 'Non-infectious anterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86879 Label: Extranodal nasal NK/T cell lymphoma - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'disease' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'disease' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_325004 Label: CANDLE syndrome - 'CANDLE syndrome' SubClassOf 'part_of' some 'Proteasome disability syndrome' - 'CANDLE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CANDLE syndrome' SubClassOf 'clinical subtype' - 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CANDLE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CANDLE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proteasome disability syndrome' + 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CANDLE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CANDLE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CANDLE syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119414 Label: cholinergic receptor, nicotinic, alpha 4 (neuronal) - 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231127 Label: Beckwith-Wiedemann syndrome due to 11p15 microdeletion - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 11' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 11' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_90157 Label: Drug-induced localized lipodystrophy - 'Drug-induced localized lipodystrophy' SubClassOf 'disease' - 'Drug-induced localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Drug-induced localized lipodystrophy' SubClassOf 'disease' + 'Drug-induced localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_281244 Label: Autosomal ichthyosis syndrome with other associated signs - 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label: CLN7 disease - 'CLN7 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN7 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN7 disease' SubClassOf 'etiological subtype' - 'CLN7 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN7 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN7 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN7 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN7 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_90156 Label: Centrifugal lipodystrophy - 'Centrifugal lipodystrophy' SubClassOf 'disease' - 'Centrifugal lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Centrifugal lipodystrophy' SubClassOf 'disease' + 'Centrifugal lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119419 Label: cholinergic receptor, nicotinic, beta 1 (muscle) - 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306640 Label: Rare intoxication due to medical products - 'Rare intoxication due to medical products' SubClassOf 'group of disorders' + 'Rare intoxication due to medical products' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269928 Label: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'gene' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Distal 17p13.3 microdeletion syndrome' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Distal 17p13.3 microdeletion syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_162521 Label: Congenital nasal pyriform aperture stenosis with holoprosencephaly - 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome' - 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome' + 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_90154 Label: Mandibuloacral dysplasia with type B lipodystrophy - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'clinical subtype' - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'part_of' some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'clinical subtype' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_100094 Label: Multiple polyglandular tumor - 'Multiple polyglandular tumor' SubClassOf 'group of disorders' + 'Multiple polyglandular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231120 Label: Beckwith-Wiedemann syndrome due to CDKN1C mutation - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_281241 Label: Autosomal ichthyosis syndrome with fatal disease course - 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100093 Label: Carcinoid tumor and carcinoid syndrome - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'disease' - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'part_of' some 'Intestinal tumor' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'disease' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_90159 Label: Panniculitis and localized lipodystrophy - 'Panniculitis and localized lipodystrophy' SubClassOf 'disease' - 'Panniculitis and localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Panniculitis and localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Panniculitis and localized lipodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90158 Label: Idiopathic localized lipodystrophy - 'Idiopathic localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' - 'Idiopathic localized lipodystrophy' SubClassOf 'disease' + 'Idiopathic localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Idiopathic localized lipodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90160 Label: Pressure-induced localized lipoatrophy - 'Pressure-induced localized lipoatrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' - 'Pressure-induced localized lipoatrophy' SubClassOf 'disease' + 'Pressure-induced localized lipoatrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Pressure-induced localized lipoatrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_162516 Label: Isolated congenital nasal pyriform aperture stenosis - 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'malformation syndrome' - 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100090 Label: Rare parathyroid tumor - 'Rare parathyroid tumor' SubClassOf 'group of disorders' + 'Rare parathyroid tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100091 Label: Adrenal/paraganglial tumor - 'Adrenal/paraganglial tumor' SubClassOf 'group of disorders' + 'Adrenal/paraganglial tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100092 Label: Gastroenteropancreatic endocrine tumor - 'Gastroenteropancreatic endocrine tumor' SubClassOf 'group of disorders' + 'Gastroenteropancreatic endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281238 Label: Autosomal ichthyosis syndrome with prominent neurologics signs - 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399572 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder - 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label: CLN6 disease - 'CLN6 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN6 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN6 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN6 disease' SubClassOf 'etiological subtype' - 'CLN6 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN6 disease' SubClassOf 'etiological subtype' + 'CLN6 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN6 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label: CLN5 disease - 'CLN5 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN5 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN5 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN5 disease' SubClassOf 'etiological subtype' + 'CLN5 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN5 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN5 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN5 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_86885 Label: Primary cutaneous unspecified peripheral T-cell lymphoma - 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'disease' - 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' + 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'disease' + 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86886 Label: Angioimmunoblastic T-cell lymphoma - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'disease' - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'disease' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86884 Label: Subcutaneous panniculitis-like T-cell lymphoma - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'part_of' some 'Indolent primary cutaneous T-cell lymphoma' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'disease' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent primary cutaneous T-cell lymphoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'disease' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_320793 Label: actin, gamma 2, smooth muscle, enteric - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'gene' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathic intestinal pseudoobstruction' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial visceral myopathy' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathic intestinal pseudoobstruction' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'actin, gamma 2, smooth muscle, enteric' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial visceral myopathy' Class: http://www.orpha.net/ORDO/Orphanet_86882 Label: Hepatosplenic T-cell lymphoma - 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'disease' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Hepatosplenic T-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatosplenic T-cell lymphoma' SubClassOf 'disease' + 'Hepatosplenic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_75840 Label: Congenital muscular dystrophy, Ullrich type - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'disease' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'disease' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of collagen 6' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_86880 Label: Enteropathy-associated T-cell lymphoma - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'disease' + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Enteropathy-associated T-cell lymphoma' SubClassOf 'disease' + 'Enteropathy-associated T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_300385 Label: Pituitary carcinoma - 'Pituitary carcinoma' SubClassOf 'disease' - 'Pituitary carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pituitary carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pituitary carcinoma' SubClassOf 'part_of' some 'Pituitary tumor' + 'Pituitary carcinoma' SubClassOf 'disease' + 'Pituitary carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Pituitary carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pituitary carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.87"^^http://www.w3.org/2001/XMLSchema#string) + 'Pituitary carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary tumor' + 'Pituitary carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_356996 Label: Intellectual disability - hypotonia - spasticity - sleep disorder - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'disease' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'disease' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_119422 Label: cholinergic receptor, nicotinic, delta (muscle) - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119425 Label: cholinergic receptor, nicotinic, epsilon (muscle) - 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231137 Label: Silver-Russell syndrome due to 7p11.2p13 microduplication - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 7' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'part_of' some 'Silver-Russell syndrome' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 7' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_300382 Label: Progeroid and marfanoid aspect-lipodystrophy syndrome - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'disease' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_183883 Label: mannosyl-oligosaccharide glucosidase - 'mannosyl-oligosaccharide glucosidase' SubClassOf 'gene' - 'mannosyl-oligosaccharide glucosidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'GCS1-CDG' + 'mannosyl-oligosaccharide glucosidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'mannosyl-oligosaccharide glucosidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannosyl-oligosaccharide glucosidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'GCS1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_100088 Label: Thyroid carcinoma - 'Thyroid carcinoma' SubClassOf 'group of disorders' + 'Thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C030 value "61.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119428 Label: cholinergic receptor, nicotinic, gamma (muscle) - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive multiple pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228354 Label: CLN8 disease - 'CLN8 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN8 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN8 disease' SubClassOf 'etiological subtype' - 'CLN8 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN8 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN8 disease' SubClassOf 'etiological subtype' + 'CLN8 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN8 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_246552 Label: coiled-coil domain containing 39 - 'coiled-coil domain containing 39' SubClassOf 'gene' - 'coiled-coil domain containing 39' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 39' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 39' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 39' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100087 Label: Thyroid tumor - 'Thyroid tumor' SubClassOf 'group of disorders' + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100086 Label: Gallbladder endocrine tumor - 'Gallbladder endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Gallbladder endocrine tumor' SubClassOf 'part_of' some 'Rare biliary tract cancer' - 'Gallbladder endocrine tumor' SubClassOf 'disease' + 'Gallbladder endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract cancer' + 'Gallbladder endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Gallbladder endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_246554 Label: coiled-coil domain containing 40 - 'coiled-coil domain containing 40' SubClassOf 'gene' - 'coiled-coil domain containing 40' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 40' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100085 Label: Hepatic endocrine tumor - 'Hepatic endocrine tumor' SubClassOf 'disease' - 'Hepatic endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Hepatic endocrine tumor' SubClassOf 'part_of' some 'Rare hepatic tumor' + 'Hepatic endocrine tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hepatic endocrine tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hepatic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Hepatic endocrine tumor' SubClassOf 'disease' + 'Hepatic endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_228357 Label: CLN9 disease - 'CLN9 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN9 disease' SubClassOf 'etiological subtype' - 'CLN9 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN9 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN9 disease' SubClassOf 'etiological subtype' + 'CLN9 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN9 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN9 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_100084 Label: Middle ear endocrine tumor - 'Middle ear endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Middle ear endocrine tumor' SubClassOf 'disease' - 'Middle ear endocrine tumor' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Middle ear endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Middle ear endocrine tumor' SubClassOf 'disease' + 'Middle ear endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_231130 Label: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100083 Label: Laryngeal endocrine tumor - 'Laryngeal endocrine tumor' SubClassOf 'disease' - 'Laryngeal endocrine tumor' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Laryngeal endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' + 'Laryngeal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Laryngeal endocrine tumor' SubClassOf 'disease' + 'Laryngeal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_306658 Label: Normocalcemic tumoral calcinosis - 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' - 'Normocalcemic tumoral calcinosis' SubClassOf 'part_of' some 'Tumoral calcinosis' + 'Normocalcemic tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumoral calcinosis' + 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100082 Label: Anal endocrine tumor - 'Anal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Anal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Anal endocrine tumor' SubClassOf 'disease' + 'Anal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Anal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Anal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100080 Label: Colon endocrine tumor - 'Colon endocrine tumor' SubClassOf 'disease' - 'Colon endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Colon endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' + 'Colon endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Colon endocrine tumor' SubClassOf 'disease' + 'Colon endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_100081 Label: Rectal endocrine tumor - 'Rectal endocrine tumor' SubClassOf 'disease' - 'Rectal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Rectal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' + 'Rectal endocrine tumor' SubClassOf 'disease' + 'Rectal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Rectal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_320785 Label: solute carrier family 5 (sodium/choline cotransporter), member 7 - 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'gene' - 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' Class: http://www.orpha.net/ORDO/Orphanet_162526 Label: Isolated congenital auditory ossicle malformation - 'Isolated congenital auditory ossicle malformation' SubClassOf 'morphological anomaly' - 'Isolated congenital auditory ossicle malformation' SubClassOf 'part_of' some 'Middle ear anomaly' + 'Isolated congenital auditory ossicle malformation' SubClassOf 'morphological anomaly' + 'Isolated congenital auditory ossicle malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Middle ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_363746 Label: Balint syndrome - 'Balint syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Balint syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Balint syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Balint syndrome' SubClassOf 'disease' - 'Balint syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Balint syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Balint syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Balint syndrome' SubClassOf 'disease' + 'Balint syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269925 Label: T-box 2 - 'T-box 2' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' - 'T-box 2' SubClassOf 'gene' + 'T-box 2' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' + 'T-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399584 Label: Rare male infertility due to adrenal disorder - 'Rare male infertility due to adrenal disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285396 Label: fuzzy planar cell polarity protein - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caudal regression sequence' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arnold-Chiari malformation type II' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'gene' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caudal regression sequence' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arnold-Chiari malformation type II' + 'fuzzy planar cell polarity protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_86896 Label: Histiocytic sarcoma - 'Histiocytic sarcoma' SubClassOf 'disease' - 'Histiocytic sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Histiocytic sarcoma' SubClassOf 'part_of' some 'Macrophage or histiocytic tumor' + 'Histiocytic sarcoma' SubClassOf 'disease' + 'Histiocytic sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrophage or histiocytic tumor' + 'Histiocytic sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86897 Label: Langerhans cell sarcoma - 'Langerhans cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' - 'Langerhans cell sarcoma' SubClassOf 'disease' - 'Langerhans cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Langerhans cell sarcoma' SubClassOf 'disease' + 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' + 'Langerhans cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_86893 Label: Nodular lymphocyte predominant Hodgkin lymphoma - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'disease' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma' + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183879 Label: forkhead box N1 - 'forkhead box N1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alymphoid cystic thymic dysgenesis' - 'forkhead box N1' SubClassOf 'gene' + 'forkhead box N1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box N1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alymphoid cystic thymic dysgenesis' + 'forkhead box N1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11-q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183893 Label: transaldolase 1 - 'transaldolase 1' SubClassOf 'gene' - 'transaldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transaldolase deficiency' + 'transaldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5-p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'transaldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transaldolase deficiency' + 'transaldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_75858 Label: MORM syndrome - 'MORM syndrome' SubClassOf 'disease' - 'MORM syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MORM syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MORM syndrome' SubClassOf 'part_of' some 'Retinal dystrophy' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'MORM syndrome' SubClassOf 'disease' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_183895 Label: ADAMTS-like 2 - 'ADAMTS-like 2' SubClassOf 'gene' - 'ADAMTS-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' + 'ADAMTS-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'ADAMTS-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' + 'ADAMTS-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119435 Label: carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 - 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'gene' - 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macular corneal dystrophy' + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22"^^http://www.w3.org/2001/XMLSchema#string + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macular corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_325022 Label: ninein (GSK3B interacting protein) - 'ninein (GSK3B interacting protein)' SubClassOf 'gene' - 'ninein (GSK3B interacting protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Dauber type' + 'ninein (GSK3B interacting protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'ninein (GSK3B interacting protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Dauber type' + 'ninein (GSK3B interacting protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_165904 Label: connective tissue growth factor - 'connective tissue growth factor' SubClassOf 'gene' - 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' - 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'connective tissue growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'connective tissue growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_231147 Label: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_75857 Label: 6q terminal deletion syndrome - '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '6q terminal deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 6' - '6q terminal deletion syndrome' SubClassOf 'malformation syndrome' - '6q terminal deletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '6q terminal deletion syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 6' + '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '6q terminal deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '6q terminal deletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231144 Label: Silver-Russell syndrome due to 11p15 microduplication - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 11' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Silver-Russell syndrome' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 11' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_119431 Label: carbohydrate (chondroitin 6) sulfotransferase 3 - 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'gene' - 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHST3-related skeletal dysplasia' + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHST3-related skeletal dysplasia' + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183890 Label: CCAAT/enhancer binding protein (C/EBP), epsilon - 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infection due to specific granule deficiency' - 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf 'gene' + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Recurrent infection due to specific granule deficiency' + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363741 Label: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'disease' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'disease' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_306669 Label: Hemiparkinsonism-hemiatrophy syndrome - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_356961 Label: SLC35A2-CDG - 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SLC35A2-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SLC35A2-CDG' SubClassOf 'disease' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'SLC35A2-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SLC35A2-CDG' SubClassOf 'disease' + 'SLC35A2-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306666 Label: Rare parkinsonian syndrome due to neurodegenerative disease - 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of disorders' + 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231140 Label: Silver-Russell syndrome due to imprinting defect of 11p15 - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228387 Label: Spondylo-megaepiphyseal-metaphyseal dysplasia - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'disease' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'disease' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_306661 Label: Familial tumoral calcinosis - 'Familial tumoral calcinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial tumoral calcinosis' SubClassOf 'clinical subtype' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Disorder of O-N-acetylgalactosaminylglycan synthesis' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Tumoral calcinosis' + 'Familial tumoral calcinosis' SubClassOf 'clinical subtype' + 'Familial tumoral calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumoral calcinosis' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-N-acetylgalactosaminylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_285362 Label: Rho GTPase activating protein 24 - 'Rho GTPase activating protein 24' SubClassOf 'gene' - 'Rho GTPase activating protein 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228384 Label: 5q14.3 microdeletion syndrome - '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '5q14.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' - '5q14.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '5q14.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' + '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '5q14.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269953 Label: lipase maturation factor 1 - 'lipase maturation factor 1' SubClassOf 'gene' - 'lipase maturation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' + 'lipase maturation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' + 'lipase maturation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase maturation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401603 Label: zinc finger, MYND-type containing 15 - 'zinc finger, MYND-type containing 15' SubClassOf 'gene' - 'zinc finger, MYND-type containing 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'zinc finger, MYND-type containing 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'zinc finger, MYND-type containing 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, MYND-type containing 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_293807 Label: Ketamine-induced biliary dilatation - 'Ketamine-induced biliary dilatation' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_inheritance' some 'sporadic' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ketamine-induced biliary dilatation' SubClassOf 'part_of' some 'Rare intoxication due to medical products' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ketamine-induced biliary dilatation' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Ketamine-induced biliary dilatation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ketamine-induced biliary dilatation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ketamine-induced biliary dilatation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_183886 Label: diffuse panbronchiolitis critical region 1 - 'diffuse panbronchiolitis critical region 1' SubClassOf 'gene' - 'diffuse panbronchiolitis critical region 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' + 'diffuse panbronchiolitis critical region 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.32"^^http://www.w3.org/2001/XMLSchema#string + 'diffuse panbronchiolitis critical region 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diffuse panbronchiolitis critical region 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' Class: http://www.orpha.net/ORDO/Orphanet_325017 Label: cytochrome c oxidase subunit VIIb - 'cytochrome c oxidase subunit VIIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' - 'cytochrome c oxidase subunit VIIb' SubClassOf 'gene' + 'cytochrome c oxidase subunit VIIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase subunit VIIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' + 'cytochrome c oxidase subunit VIIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119447 Label: chloride channel, voltage-sensitive 1 - 'chloride channel, voltage-sensitive 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thomsen and Becker disease' - 'chloride channel, voltage-sensitive 1' SubClassOf 'gene' + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thomsen and Becker disease' + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251503 Label: phosphatidylinositol glycan anchor biosynthesis, class V - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_356978 Label: D,L-2-hydroxyglutaric aciduria - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'disease' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'part_of' some '2-hydroxyglutaric aciduria' + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '2-hydroxyglutaric aciduria' + 'D,L-2-hydroxyglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119442 Label: class II, major histocompatibility complex, transactivator - 'class II, major histocompatibility complex, transactivator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'class II, major histocompatibility complex, transactivator' SubClassOf 'gene' + 'class II, major histocompatibility complex, transactivator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'class II, major histocompatibility complex, transactivator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'class II, major histocompatibility complex, transactivator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228379 Label: Virus-associated trichodysplasia spinulosa - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'part_of' some 'Rare viral disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Virus-associated trichodysplasia spinulosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306679 Label: Rare parkinsonian syndrome due to intoxication - 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of disorders' + 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231154 Label: Combined immunodeficiency T+ B+ due to partial RAG1 deficiency - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306674 Label: Kufor-Rakeb syndrome - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Abnormal eye movements' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Kufor-Rakeb syndrome' SubClassOf 'disease' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Kufor-Rakeb syndrome' SubClassOf 'disease' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_156005 Label: Primary glaucoma - 'Primary glaucoma' SubClassOf 'group of disorders' + 'Primary glaucoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228371 Label: Foodborne botulism - 'Foodborne botulism' SubClassOf 'has_prevalence' some 'Unknown' - 'Foodborne botulism' SubClassOf 'clinical subtype' - 'Foodborne botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Foodborne botulism' SubClassOf 'part_of' some 'Botulism' + 'Foodborne botulism' SubClassOf 'clinical subtype' + 'Foodborne botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' + 'Foodborne botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Foodborne botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Foodborne botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_363727 Label: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'disease' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'disease' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_228374 Label: Severe early-onset axonal neuropathy due to NEFL deficiency - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'disease' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'disease' + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_90153 Label: Mandibuloacral dysplasia with type A lipodystrophy - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'clinical subtype' - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'part_of' some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'clinical subtype' + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibuloacral dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_251510 Label: 46,XY partial gonadal dysgenesis - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_prevalence' some 'Unknown' - '46,XY partial gonadal dysgenesis' SubClassOf 'malformation syndrome' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_inheritance' some 'sporadic' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XY partial gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf 'malformation syndrome' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_165921 Label: sterol carrier protein 2 - 'sterol carrier protein 2' SubClassOf 'gene' - 'sterol carrier protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - dystonia - motor neuropathy' + 'sterol carrier protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sterol carrier protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - dystonia - motor neuropathy' + 'sterol carrier protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_281201 Label: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363722 Label: Alexander disease type II - 'Alexander disease type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alexander disease type II' SubClassOf 'part_of' some 'Alexander disease' - 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Alexander disease type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Alexander disease type II' SubClassOf 'clinical subtype' + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alexander disease type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alexander disease type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alexander disease' + 'Alexander disease type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306686 Label: Carbon monoxide-induced parkinsonism - 'Carbon monoxide-induced parkinsonism' SubClassOf 'part_of' some 'Rare intoxication' - 'Carbon monoxide-induced parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' - 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' + 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' + 'Carbon monoxide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Carbon monoxide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_100054 Label: Hereditary angioedema type 3 - 'Hereditary angioedema type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 3' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary angioedema type 3' SubClassOf 'etiological subtype' - 'Hereditary angioedema type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary angioedema type 3' SubClassOf 'part_of' some 'Hereditary angioedema' + 'Hereditary angioedema type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary angioedema type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary angioedema type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_231160 Label: Familial cerebral saccular aneurysm - 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial cerebral saccular aneurysm' SubClassOf 'disease' - 'Familial cerebral saccular aneurysm' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial cerebral saccular aneurysm' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial cerebral saccular aneurysm' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Familial cerebral saccular aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial cerebral saccular aneurysm' SubClassOf 'disease' + 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_100055 Label: Acquired angioedema type 2 - 'Acquired angioedema type 2' SubClassOf 'clinical subtype' - 'Acquired angioedema type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired angioedema type 2' SubClassOf 'part_of' some 'Acquired angioedema' - 'Acquired angioedema type 2' SubClassOf 'has_inheritance' some 'sporadic' + 'Acquired angioedema type 2' SubClassOf 'clinical subtype' + 'Acquired angioedema type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired angioedema type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' Class: http://www.orpha.net/ORDO/Orphanet_100056 Label: Acquired angioedema type 1 - 'Acquired angioedema type 1' SubClassOf 'part_of' some 'Acquired angioedema' - 'Acquired angioedema type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired angioedema type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired angioedema type 1' SubClassOf 'clinical subtype' + 'Acquired angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' + 'Acquired angioedema type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired angioedema type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired angioedema type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108959 Label: Non-syndromic esophageal malformation - 'Non-syndromic esophageal malformation' SubClassOf 'group of disorders' + 'Non-syndromic esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100050 Label: Hereditary angioedema type 1 - 'Hereditary angioedema type 1' SubClassOf 'part_of' some 'Hereditary angioedema' - 'Hereditary angioedema type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary angioedema type 1' SubClassOf 'etiological subtype' - 'Hereditary angioedema type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Hereditary angioedema type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 1' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_100051 Label: Hereditary angioedema type 2 - 'Hereditary angioedema type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary angioedema type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 2' SubClassOf 'part_of' some 'Hereditary angioedema' - 'Hereditary angioedema type 2' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 2' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary angioedema type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_231169 Label: Usher syndrome type 1 - 'Usher syndrome type 1' SubClassOf 'clinical subtype' - 'Usher syndrome type 1' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Usher syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 1' SubClassOf 'clinical subtype' + 'Usher syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Usher syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_86839 Label: Refractory anemia with excess blasts - 'Refractory anemia with excess blasts' SubClassOf 'part_of' some 'Myelodysplastic syndromes' - 'Refractory anemia with excess blasts' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts' SubClassOf 'disease' - 'Refractory anemia with excess blasts' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia with excess blasts' SubClassOf 'has_inheritance' some 'sporadic' + 'Refractory anemia with excess blasts' SubClassOf 'disease' + 'Refractory anemia with excess blasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' + 'Refractory anemia with excess blasts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_86836 Label: Refractory cytopenia with multilineage dysplasia - 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'group of disorders' - 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370418 Label: zinc finger and BTB domain containing 18 - 'zinc finger and BTB domain containing 18' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 1q' - 'zinc finger and BTB domain containing 18' SubClassOf 'gene' + 'zinc finger and BTB domain containing 18' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 1q' + 'zinc finger and BTB domain containing 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger and BTB domain containing 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97955 Label: Rare respiratory disease - 'Rare respiratory disease' SubClassOf 'group of disorders' + 'Rare respiratory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165929 Label: prolyl endopeptidase-like - 'prolyl endopeptidase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' - 'prolyl endopeptidase-like' SubClassOf 'gene' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' + 'prolyl endopeptidase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' + 'prolyl endopeptidase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prolyl endopeptidase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86834 Label: Juvenile myelomonocytic leukemia - 'Juvenile myelomonocytic leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Juvenile myelomonocytic leukemia' SubClassOf 'disease' - 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile myelomonocytic leukemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Juvenile myelomonocytic leukemia' SubClassOf 'disease' + 'Juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Juvenile myelomonocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_100057 Label: Renin-angiotensin-aldosterone system-blocker-induced angioedema - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some 'sporadic' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'part_of' some 'Acquired angioedema' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_prevalence' some 'Unknown' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'clinical subtype' + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_97957 Label: Respiratory or thoracic malformation - 'Respiratory or thoracic malformation' SubClassOf 'group of disorders' + 'Respiratory or thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370413 Label: eukaryotic translation elongation factor 2 - 'eukaryotic translation elongation factor 2' SubClassOf 'gene' - 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' + 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' + 'eukaryotic translation elongation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation elongation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_165923 Label: scavenger receptor class B, member 2 - 'scavenger receptor class B, member 2' SubClassOf 'Modifying germline mutation in' some 'Gaucher disease type 1' - 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Action myoclonus - renal failure syndrome' - 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'scavenger receptor class B, member 2' SubClassOf 'gene' + 'scavenger receptor class B, member 2' SubClassOf 'Modifying germline mutation in' some 'Gaucher disease type 1' + 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Action myoclonus - renal failure syndrome' + 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'scavenger receptor class B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'scavenger receptor class B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_86841 Label: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'disease' - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'disease' + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_165932 Label: contactin associated protein-like 2 - 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysplasia - focal epilepsy syndrome' - 'contactin associated protein-like 2' SubClassOf 'gene' - 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' + 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysplasia - focal epilepsy syndrome' + 'contactin associated protein-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q35"^^http://www.w3.org/2001/XMLSchema#string + 'contactin associated protein-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66518 Label: Short fifth metacarpals - insulin resistance - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'disease' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Short fifth metacarpals - insulin resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Short fifth metacarpals - insulin resistance' SubClassOf 'disease' + 'Short fifth metacarpals - insulin resistance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_97962 Label: Rare surgical thoracic disease - 'Rare surgical thoracic disease' SubClassOf 'group of disorders' + 'Rare surgical thoracic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363717 Label: Alexander disease type I - 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alexander disease type I' SubClassOf 'has_inheritance' some 'sporadic' - 'Alexander disease type I' SubClassOf 'part_of' some 'Alexander disease' - 'Alexander disease type I' SubClassOf 'clinical subtype' - 'Alexander disease type I' SubClassOf 'has_prevalence' some 'Unknown' + 'Alexander disease type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alexander disease' + 'Alexander disease type I' SubClassOf 'clinical subtype' + 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alexander disease type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_306682 Label: Manganese poisoning - 'Manganese poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Manganese poisoning' SubClassOf 'disease' - 'Manganese poisoning' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Manganese poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363710 Label: Spinocerebellar ataxia type 37 - 'Spinocerebellar ataxia type 37' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 37' SubClassOf 'disease' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 37' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 37' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 37' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 37' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 37' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281210 Label: X-linked ichthyosis syndrome - 'X-linked ichthyosis syndrome' SubClassOf 'group of disorders' + 'X-linked ichthyosis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100044 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100045 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306695 Label: Miscellaneous movement disorder due to neurodegenerative disease - 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of disorders' + 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100043 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_228399 Label: 8q12 microduplication syndrome - '8q12 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q12 microduplication syndrome' SubClassOf 'malformation syndrome' - '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8q12 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 8' + '8q12 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q12 microduplication syndrome' SubClassOf 'malformation syndrome' + '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 8' + '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_108945 Label: Variable - 'Variable' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108946 Label: No data available - 'No data available' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_55596 Label: Autosomal dominant limb-girdle muscular dystrophy type 1G - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_97944 Label: Gastroduodenal malformation - 'Gastroduodenal malformation' SubClassOf 'group of disorders' + 'Gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108941 Label: Neonatal/infancy - 'Neonatal/infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_231178 Label: Usher syndrome type 2 - 'Usher syndrome type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Usher syndrome type 2' SubClassOf 'clinical subtype' - 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Usher syndrome type 2' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Usher syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 2' SubClassOf 'clinical subtype' + 'Usher syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Usher syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_55595 Label: Autosomal dominant limb-girdle muscular dystrophy type 1F - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_97945 Label: Intestinal malformation - 'Intestinal malformation' SubClassOf 'group of disorders' + 'Intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108942 Label: Childhood - 'Childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_86849 Label: Acute basophilic leukemia - 'Acute basophilic leukemia' SubClassOf 'disease' - 'Acute basophilic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute basophilic leukemia' SubClassOf 'disease' + 'Acute basophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_108943 Label: Adolescence / Young adulthood - 'Adolescence / Young adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108944 Label: Adulthood - 'Adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_86843 Label: Acute panmyelosis with myelofibrosis - 'Acute panmyelosis with myelofibrosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute panmyelosis with myelofibrosis' SubClassOf 'disease' - 'Acute panmyelosis with myelofibrosis' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute panmyelosis with myelofibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute panmyelosis with myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute panmyelosis with myelofibrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100048 Label: Tubular duplication of the esophagus - 'Tubular duplication of the esophagus' SubClassOf 'morphological anomaly' - 'Tubular duplication of the esophagus' SubClassOf 'part_of' some 'Duplication of the esophagus' + 'Tubular duplication of the esophagus' SubClassOf 'morphological anomaly' + 'Tubular duplication of the esophagus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_100049 Label: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86845 Label: Acute myeloid leukemia with multilineage dysplasia - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'part_of' some 'Acute myeloid leukemia' - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'disease' + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia' + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100046 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_86846 Label: Therapy related acute myeloid leukemia and myelodysplastic syndrome - 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'group of disorders' + 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'group of disorders' + 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_100047 Label: Esophageal duplication cyst - 'Esophageal duplication cyst' SubClassOf 'part_of' some 'Duplication of the esophagus' - 'Esophageal duplication cyst' SubClassOf 'morphological anomaly' + 'Esophageal duplication cyst' SubClassOf 'morphological anomaly' + 'Esophageal duplication cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_86851 Label: Acute leukemia of ambiguous lineage - 'Acute leukemia of ambiguous lineage' SubClassOf 'group of disorders' - 'Acute leukemia of ambiguous lineage' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acute leukemia of ambiguous lineage' SubClassOf 'group of disorders' + 'Acute leukemia of ambiguous lineage' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_86850 Label: Myeloid sarcoma - 'Myeloid sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myeloid sarcoma' SubClassOf 'disease' - 'Myeloid sarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Myeloid sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Myeloid sarcoma' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Myeloid sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myeloid sarcoma' SubClassOf 'disease' + 'Myeloid sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myeloid sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_86852 Label: B-cell prolymphocytic leukemia - 'B-cell prolymphocytic leukemia' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'B-cell prolymphocytic leukemia' SubClassOf 'disease' - 'B-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'B-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'B-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' + 'B-cell prolymphocytic leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_66529 Label: Tako-Tsubo cardiomyopathy - 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'disease' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Tako-Tsubo cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified cardiomyopathy' + 'Tako-Tsubo cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Tako-Tsubo cardiomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228390 Label: Frontonasal dysplasia with alopecia and genital anomaly - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Alopecia' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'malformation syndrome' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_306692 Label: Cyanide-induced parkinsonism - 'Cyanide-induced parkinsonism' SubClassOf 'part_of' some 'Rare intoxication' - 'Cyanide-induced parkinsonism' SubClassOf 'disease' - 'Cyanide-induced parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' + 'Cyanide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Cyanide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Cyanide-induced parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140036 Label: ubiquitin-like modifier activating enzyme 1 - 'ubiquitin-like modifier activating enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked distal arthrogryposis multiplex congenita' - 'ubiquitin-like modifier activating enzyme 1' SubClassOf 'gene' + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked distal arthrogryposis multiplex congenita' + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363705 Label: Craniofaciofrontodigital syndrome - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'Craniofaciofrontodigital syndrome' SubClassOf 'disease' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofaciofrontodigital syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228396 Label: Ptosis - upper ocular movement limitation - absence of lacrimal punctum - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'malformation syndrome' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'part_of' some 'Ptosis' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'malformation syndrome' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_100071 Label: Mosaic trisomy 3 - 'Mosaic trisomy 3' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 3' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 3' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_108936 Label: mitochondrial inheritance - 'mitochondrial inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108937 Label: multigenic / multifactorial - 'multigenic / multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100073 Label: Neurogenic thoracic outlet syndrome - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'clinical subtype' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'part_of' some 'Thoracic outlet syndrome' + 'Neurogenic thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic outlet syndrome' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neurogenic thoracic outlet syndrome' SubClassOf 'clinical subtype' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_108934 Label: x linked recessive - 'x linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108935 Label: x linked dominant - 'x linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100075 Label: Gastric endocrine tumor - 'Gastric endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Gastric endocrine tumor' SubClassOf 'disease' - 'Gastric endocrine tumor' SubClassOf 'part_of' some 'Gastro-esophageal tumor' + 'Gastric endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Gastric endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastro-esophageal tumor' + 'Gastric endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231183 Label: Usher syndrome type 3 - 'Usher syndrome type 3' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Usher syndrome type 3' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Usher syndrome type 3' SubClassOf 'clinical subtype' + 'Usher syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Usher syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 3' SubClassOf 'clinical subtype' + 'Usher syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363700 Label: Neurofibromatosis type 1 due to NF1mutation or intragenic deletion - 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'part_of' some 'Neurofibromatosis type 1' - 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'etiological subtype' + 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurofibromatosis type 1' + 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_281222 Label: Autosomal ichthyosis syndrome with prominent hair abnormalities - 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100076 Label: Duodenal endocrine tumor - 'Duodenal endocrine tumor' SubClassOf 'group of disorders' + 'Duodenal endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100077 Label: Jejunal endocrine tumor - 'Jejunal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Jejunal endocrine tumor' SubClassOf 'disease' - 'Jejunal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' + 'Jejunal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Jejunal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Jejunal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_108938 Label: sporadic - 'sporadic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100078 Label: Ileal endocrine tumor - 'Ileal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Ileal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Ileal endocrine tumor' SubClassOf 'disease' + 'Ileal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Ileal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Ileal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100079 Label: Endocrine tumor of the appendix - 'Endocrine tumor of the appendix' SubClassOf 'part_of' some 'Intestinal tumor' - 'Endocrine tumor of the appendix' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Endocrine tumor of the appendix' SubClassOf 'disease' + 'Endocrine tumor of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Endocrine tumor of the appendix' SubClassOf 'disease' + 'Endocrine tumor of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_97935 Label: Rare gastroenterologic disease - 'Rare gastroenterologic disease' SubClassOf 'group of disorders' + 'Rare gastroenterologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86854 Label: Splenic marginal zone lymphoma - 'Splenic marginal zone lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Splenic marginal zone lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' - 'Splenic marginal zone lymphoma' SubClassOf 'disease' + 'Splenic marginal zone lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Splenic marginal zone lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' + 'Splenic marginal zone lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86855 Label: Plasmacytoma - 'Plasmacytoma' SubClassOf 'disease' - 'Plasmacytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Plasmacytoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Plasmacytoma' SubClassOf 'part_of' some 'Hematological disease associated with an acquired peripheral neuropathy' - 'Plasmacytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Plasmacytoma' SubClassOf 'part_of' some 'Plasma cell tumor' + 'Plasmacytoma' SubClassOf 'disease' + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disease associated with an acquired peripheral neuropathy' + 'Plasmacytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Plasmacytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_108932 Label: autosomal dominant - 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108933 Label: autosomal recessive - 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108930 Label: No data available - 'No data available' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_86864 Label: Heavy chain disease - 'Heavy chain disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Heavy chain disease' SubClassOf 'disease' - 'Heavy chain disease' SubClassOf 'part_of' some 'Plasma cell tumor' - 'Heavy chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Heavy chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Heavy chain disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86861 Label: Non-amyloid monoclonal immunoglobulin deposition disease - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'part_of' some 'Plasma cell tumor' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'disease' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'disease' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_90186 Label: Meige disease - 'Meige disease' SubClassOf 'part_of' some 'Late-onset primary lymphedema' - 'Meige disease' SubClassOf 'disease' + 'Meige disease' SubClassOf 'disease' + 'Meige disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late-onset primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_90185 Label: Non-hereditary late-onset primary lymphedema - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'part_of' some 'Late-onset primary lymphedema' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'disease' + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Non-hereditary late-onset primary lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'disease' + 'Non-hereditary late-onset primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late-onset primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_281217 Label: Autosomal ichthyosis syndrome - 'Autosomal ichthyosis syndrome' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100070 Label: Progressive non-fluent aphasia - 'Progressive non-fluent aphasia' SubClassOf 'disease' - 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Primary progressive aphasia' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Frontotemporal dementia' - 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Progressive non-fluent aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Progressive non-fluent aphasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive non-fluent aphasia' SubClassOf 'disease' + 'Progressive non-fluent aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Progressive non-fluent aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive non-fluent aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary progressive aphasia' Class: http://www.orpha.net/ORDO/Orphanet_108923 Label: 1 / 1000 - '1 / 1000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108924 Label: 6-9 / 10 000 - '6-9 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108925 Label: 1-5 / 10 000 - '1-5 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108926 Label: 1-9 / 100 000 - '1-9 / 100 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_77298 Label: Anophthalmia/microphthalmia - esophageal atresia - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'malformation syndrome' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some 'sporadic' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'malformation syndrome' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_108927 Label: 1-9 / 1 000 000 - '1-9 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_77299 Label: Microphthalmia - brain atrophy - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia - brain atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Microphthalmia - brain atrophy' SubClassOf 'malformation syndrome' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microphthalmia - brain atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia - brain atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia - brain atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microphthalmia - brain atrophy' SubClassOf 'malformation syndrome' + 'Microphthalmia - brain atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100067 Label: Waterhouse-Friderichsen syndrome - 'Waterhouse-Friderichsen syndrome' SubClassOf 'clinical subtype' - 'Waterhouse-Friderichsen syndrome' SubClassOf 'part_of' some 'Acute adrenal insufficiency' + 'Waterhouse-Friderichsen syndrome' SubClassOf 'clinical subtype' + 'Waterhouse-Friderichsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_108928 Label: 1 / 1 000 000 - '1 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_119407 Label: charged multivesicular body protein 2B - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'charged multivesicular body protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'charged multivesicular body protein 2B' SubClassOf 'gene' - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'charged multivesicular body protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'charged multivesicular body protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'charged multivesicular body protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_108929 Label: Unknown - 'Unknown' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_97929 Label: Rare cardiac disease - 'Rare cardiac disease' SubClassOf 'group of disorders' + 'Rare cardiac disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119402 Label: choroideremia (Rab escort protein 1) - 'choroideremia (Rab escort protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' - 'choroideremia (Rab escort protein 1)' SubClassOf 'gene' + 'choroideremia (Rab escort protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'choroideremia (Rab escort protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' + 'choroideremia (Rab escort protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1-q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97927 Label: Peripheral resistance to thyroid hormones - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Peripheral resistance to thyroid hormones' SubClassOf 'part_of' some 'Peripheral hypothyroidism' - 'Peripheral resistance to thyroid hormones' SubClassOf 'part_of' some 'Congenital hypothyroidism' - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Peripheral resistance to thyroid hormones' SubClassOf 'disease' - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peripheral resistance to thyroid hormones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism' + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Peripheral resistance to thyroid hormones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral hypothyroidism' + 'Peripheral resistance to thyroid hormones' SubClassOf 'disease' + 'Peripheral resistance to thyroid hormones' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_77295 Label: Odontoleukodystrophy - 'Odontoleukodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odontoleukodystrophy' SubClassOf 'disease' - 'Odontoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Odontoleukodystrophy' SubClassOf 'part_of' some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' - 'Odontoleukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Odontoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odontoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Odontoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Odontoleukodystrophy' SubClassOf 'disease' + 'Odontoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_165958 Label: Cavitary myiasis - 'Cavitary myiasis' SubClassOf 'part_of' some 'Myiasis' - 'Cavitary myiasis' SubClassOf 'disease' + 'Cavitary myiasis' SubClassOf 'disease' + 'Cavitary myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myiasis' Class: http://www.orpha.net/ORDO/Orphanet_86867 Label: Nodal marginal zone B-cell lymphoma - 'Nodal marginal zone B-cell lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' - 'Nodal marginal zone B-cell lymphoma' SubClassOf 'disease' + 'Nodal marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' + 'Nodal marginal zone B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77296 Label: Morgagni-Stewart-Morel syndrome - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'part_of' some 'Cranial malformation' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'malformation syndrome' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'malformation syndrome' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_165955 Label: Wound myiasis - 'Wound myiasis' SubClassOf 'part_of' some 'Cutaneous myiasis' - 'Wound myiasis' SubClassOf 'disease' + 'Wound myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous myiasis' + 'Wound myiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77297 Label: Majeed syndrome - 'Majeed syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Majeed syndrome' SubClassOf 'disease' - 'Majeed syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Majeed syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Majeed syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Majeed syndrome' SubClassOf 'part_of' some 'Constitutional dyserythropoietic anemia' - 'Majeed syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Majeed syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'Majeed syndrome' SubClassOf 'disease' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Majeed syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Majeed syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional dyserythropoietic anemia' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Majeed syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_100069 Label: Semantic dementia - 'Semantic dementia' SubClassOf 'disease' - 'Semantic dementia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Semantic dementia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Semantic dementia' SubClassOf 'has_inheritance' some 'sporadic' - 'Semantic dementia' SubClassOf 'part_of' some 'Primary progressive aphasia' - 'Semantic dementia' SubClassOf 'part_of' some 'Frontotemporal dementia' + 'Semantic dementia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Semantic dementia' SubClassOf 'disease' + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' + 'Semantic dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary progressive aphasia' + 'Semantic dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_86869 Label: Lymphomatoid granulomatosis - 'Lymphomatoid granulomatosis' SubClassOf 'disease' - 'Lymphomatoid granulomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphomatoid granulomatosis' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Lymphomatoid granulomatosis' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'Lymphomatoid granulomatosis' SubClassOf 'disease' + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Lymphomatoid granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label: Niemann-Pick disease type A - 'Niemann-Pick disease type A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Niemann-Pick disease type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type A' SubClassOf 'disease' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Niemann-Pick disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Niemann-Pick disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type A' SubClassOf 'disease' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Niemann-Pick disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_77293 Label: Niemann-Pick disease type B - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Niemann-Pick disease type B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Niemann-Pick disease type B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Niemann-Pick disease type B' SubClassOf 'disease' - 'Niemann-Pick disease type B' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Niemann-Pick disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Niemann-Pick disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Niemann-Pick disease type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type B' SubClassOf 'disease' + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_165961 Label: Subcutaneous myiasis - 'Subcutaneous myiasis' SubClassOf 'group of disorders' + 'Subcutaneous myiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86871 Label: T-cell prolymphocytic leukemia - 'T-cell prolymphocytic leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'T-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'T-cell prolymphocytic leukemia' SubClassOf 'disease' + 'T-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'T-cell prolymphocytic leukemia' SubClassOf 'disease' + 'T-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86870 Label: CD4+/CD56+ hematodermic neoplasm - 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'disease' - 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'disease' + 'CD4+/CD56+ hematodermic neoplasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86873 Label: Aggressive NK-cell leukemia - 'Aggressive NK-cell leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Aggressive NK-cell leukemia' SubClassOf 'disease' - 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aggressive NK-cell leukemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Aggressive NK-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Aggressive NK-cell leukemia' SubClassOf 'disease' + 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86872 Label: T-cell large granular lymphocyte leukemia - 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_prevalence' some 'Unknown' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'Acquired neutropenia' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neutropenia' + 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'T-cell large granular lymphocyte leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_52759 Label: Vasculitis - 'Vasculitis' SubClassOf 'group of disorders' + 'Vasculitis' SubClassOf 'Rare vascular disease' + 'Vasculitis' SubClassOf 'group of disorders' + 'Vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_86875 Label: Adult T-cell leukemia/lymphoma - 'Adult T-cell leukemia/lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'disease' + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Adult T-cell leukemia/lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Adult T-cell leukemia/lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1159 Label: Progressive pseudorheumatoid arthropathy of childhood - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_293867 Label: v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multicentric carpo-tarsal osteolysis with or without nephropathy' - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'gene' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multicentric carpo-tarsal osteolysis with or without nephropathy' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.1-q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_141112 Label: Nasal glial heterotopia - 'Nasal glial heterotopia' SubClassOf 'disease' - 'Nasal glial heterotopia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasal glial heterotopia' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Nasal glial heterotopia' SubClassOf 'disease' + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_398043 Label: Malignant tumor of penis - 'Malignant tumor of penis' SubClassOf 'group of disorders' + 'Malignant tumor of penis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293864 Label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label: Nasal ganglioglioma - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Nasal ganglioglioma' SubClassOf 'clinical subtype' - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Ganglioglioma' + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ganglioglioma' + 'Nasal ganglioglioma' SubClassOf 'clinical subtype' + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_1150 Label: Arthrogryposis multiplex congenita - whistling face - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'malformation syndrome' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'malformation syndrome' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_165976 Label: calcium/calmodulin-dependent serine protein kinase (MAGUK family) - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'gene' - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Najm type' - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Early infantile epileptic encephalopathy' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Najm type' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_330001 Label: Senile systemic amyloidosis - 'Senile systemic amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Senile systemic amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Senile systemic amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Senile systemic amyloidosis' SubClassOf 'disease' + 'Senile systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Senile systemic amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Senile systemic amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Senile systemic amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329341 Label: Limbic encephalitis with DPP6 antibodies - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disease' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_108991 Label: Syndrome with a central nervous system malformation as major feature - 'Syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1154 Label: Arthrogryposis with oculomotor limitation and electroretinal anomalies - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_prevalence' some 'Unknown' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'malformation syndrome' + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251561 Label: High-grade astrocytoma - 'High-grade astrocytoma' SubClassOf 'group of disorders' + 'High-grade astrocytoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_287584 Label: KH domain containing 3-like, subcortical maternal complex member - 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' - 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'gene' + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1155 Label: Arthrogryposis due to muscular dystrophy - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease' + 'Arthrogryposis due to muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease' + 'Arthrogryposis due to muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_108997 Label: Rare anemia - 'Rare anemia' SubClassOf 'group of disorders' + 'Rare anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118246 Label: retinal degeneration 3 - 'retinal degeneration 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinal degeneration 3' SubClassOf 'gene' + 'retinal degeneration 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal degeneration 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinal degeneration 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_108999 Label: Rare intoxication - 'Rare intoxication' SubClassOf 'group of disorders' + 'Rare intoxication' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_211240 Label: Genetic vascular anomaly - 'Genetic vascular anomaly' SubClassOf 'group of disorders' + 'Genetic vascular anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108993 Label: Non-syndromic respiratory or mediastinal malformation - 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251558 Label: Tumor of the neuroepithelial tissue - 'Tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' + 'Tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314022 Label: Gastric adenocarcinoma and proximal polyposis of the stomach - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'disease' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Gastric cancer' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'disease' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_108995 Label: Syndromic respiratory or mediastinal malformation - 'Syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165966 Label: cholinergic receptor, nicotinic, beta 2 (neuronal) - 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_211243 Label: Vascular malformation - 'Vascular malformation' SubClassOf 'group of disorders' + 'Vascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141107 Label: Nasopharyngeal teratoma - 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Nasopharyngeal teratoma' SubClassOf 'clinical subtype' - 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Teratoma' + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' + 'Nasopharyngeal teratoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_307773 Label: Autosomal dominant diffuse mutilating palmoplantar keratoderma - 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300319 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2P - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_211247 Label: Capillary malformation - 'Capillary malformation' SubClassOf 'group of disorders' + 'Capillary malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300313 Label: Congenital cataract-hearing loss-severe developmental delay syndrome - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'disease' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'disease' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_314029 Label: High bone mass osteogenesis imperfecta - 'High bone mass osteogenesis imperfecta' SubClassOf 'disease' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'High bone mass osteogenesis imperfecta' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'High bone mass osteogenesis imperfecta' SubClassOf 'disease' + 'High bone mass osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'High bone mass osteogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'High bone mass osteogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'High bone mass osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_398053 Label: Adenocarcinoma of penis - 'Adenocarcinoma of penis' SubClassOf 'disease' - 'Adenocarcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' + 'Adenocarcinoma of penis' SubClassOf 'disease' + 'Adenocarcinoma of penis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_1145 Label: X-linked distal arthrogryposis multiplex congenita - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'disease' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1146 Label: Digitotalar dysmorphism - 'Digitotalar dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Digitotalar dysmorphism' SubClassOf 'malformation syndrome' - 'Digitotalar dysmorphism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Digitotalar dysmorphism' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Distal arthrogryposis' + 'Digitotalar dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Digitotalar dysmorphism' SubClassOf 'malformation syndrome' + 'Digitotalar dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Digitotalar dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_141121 Label: Congenital subglottic stenosis - 'Congenital subglottic stenosis' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital subglottic stenosis' SubClassOf 'malformation syndrome' + 'Congenital subglottic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Congenital subglottic stenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1147 Label: Sheldon-Hall syndrome - 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sheldon-Hall syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Sheldon-Hall syndrome' SubClassOf 'malformation syndrome' - 'Sheldon-Hall syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sheldon-Hall syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sheldon-Hall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sheldon-Hall syndrome' SubClassOf 'malformation syndrome' + 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sheldon-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_141127 Label: Congenital tracheal stenosis - 'Congenital tracheal stenosis' SubClassOf 'part_of' some 'Tracheal anomaly' - 'Congenital tracheal stenosis' SubClassOf 'morphological anomaly' + 'Congenital tracheal stenosis' SubClassOf 'morphological anomaly' + 'Congenital tracheal stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1149 Label: Arthrogryposis-like syndrome - 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' - 'Arthrogryposis-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis-like syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' + 'Arthrogryposis-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_141124 Label: Congenital laryngeal cyst - 'Congenital laryngeal cyst' SubClassOf 'malformation syndrome' - 'Congenital laryngeal cyst' SubClassOf 'part_of' some 'Larynx anomaly' + 'Congenital laryngeal cyst' SubClassOf 'malformation syndrome' + 'Congenital laryngeal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_165985 Label: Diazoxide-sensitive diffuse hyperinsulinism - 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_330015 Label: Lead poisoning - 'Lead poisoning' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lead poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Lead poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Lead poisoning' SubClassOf 'disease' + 'Lead poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Lead poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Lead poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Lead poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lead poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251576 Label: Gliosarcoma - 'Gliosarcoma' SubClassOf 'part_of' some 'Glioblastoma' - 'Gliosarcoma' SubClassOf 'histopathological subtype' - 'Gliosarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Gliosarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gliosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glioblastoma' + 'Gliosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gliosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gliosarcoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_398058 Label: Squamous cell carcinoma of penis - 'Squamous cell carcinoma of penis' SubClassOf 'disease' - 'Squamous cell carcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' + 'Squamous cell carcinoma of penis' SubClassOf 'disease' + 'Squamous cell carcinoma of penis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_329332 Label: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'malformation syndrome' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'malformation syndrome' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_97992 Label: Rare hematologic disease - 'Rare hematologic disease' SubClassOf 'group of disorders' + 'Rare hematologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118253 Label: retinol dehydrogenase 5 (11-cis/9-cis) - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'gene' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q14"^^http://www.w3.org/2001/XMLSchema#string + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_226292 Label: Permanent congenital hypothyroidism - 'Permanent congenital hypothyroidism' SubClassOf 'group of disorders' + 'Permanent congenital hypothyroidism' SubClassOf 'group of disorders' + 'Permanent congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Permanent congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Permanent congenital hypothyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Permanent congenital hypothyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Permanent congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_118250 Label: retinol dehydrogenase 12 (all-trans/9-cis/11-cis) - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'gene' + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_1143 Label: Neurogenic arthrogryposis multiplex congenita - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'disease' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_prevalence' some 'Unknown' + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_226295 Label: Primary congenital hypothyroidism - 'Primary congenital hypothyroidism' SubClassOf 'group of disorders' + 'Primary congenital hypothyroidism' SubClassOf 'group of disorders' + 'Primary congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "58.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "37.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1144 Label: Arthrogryposis-like hand anomaly - sensorineural deafness - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'malformation syndrome' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'malformation syndrome' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_118257 Label: RecQ protein-like 4 - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAPADILINO syndrome' - 'RecQ protein-like 4' SubClassOf 'gene' - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baller-Gerold syndrome' - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rothmund-Thomson syndrome type 2' + 'RecQ protein-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAPADILINO syndrome' + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baller-Gerold syndrome' + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rothmund-Thomson syndrome type 2' + 'RecQ protein-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_108987 Label: Syndromic developmental defect of the eye - 'Syndromic developmental defect of the eye' SubClassOf 'group of disorders' + 'Syndromic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_226298 Label: Central congenital hypothyroidism - 'Central congenital hypothyroidism' SubClassOf 'group of disorders' + 'Central congenital hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108985 Label: Non-syndromic developmental defect of the eye - 'Non-syndromic developmental defect of the eye' SubClassOf 'group of disorders' + 'Non-syndromic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_211255 Label: Lymphatic system malformation - 'Lymphatic system malformation' SubClassOf 'group of disorders' + 'Lymphatic system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329336 Label: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_54028 Label: Plummer-Vinson syndrome - 'Plummer-Vinson syndrome' SubClassOf 'disease' - 'Plummer-Vinson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Plummer-Vinson syndrome' SubClassOf 'part_of' some 'Rare acquired deficiency anemia' - 'Plummer-Vinson syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Plummer-Vinson syndrome' SubClassOf 'part_of' some 'Rare gastroesophageal disease' + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired deficiency anemia' + 'Plummer-Vinson syndrome' SubClassOf 'disease' + 'Plummer-Vinson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Plummer-Vinson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Plummer-Vinson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_314034 Label: 7p22.1 microduplication syndrome - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 7' - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '7p22.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '7p22.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '7p22.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '7p22.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '7p22.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '7p22.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 7' + '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_211252 Label: Venous malformation - 'Venous malformation' SubClassOf 'group of disorders' + 'Venous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300305 Label: 11p15.4 microduplication syndrome - '11p15.4 microduplication syndrome' SubClassOf 'malformation syndrome' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - '11p15.4 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '11p15.4 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 11' - '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '11p15.4 microduplication syndrome' SubClassOf 'malformation syndrome' + '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 11' + '11p15.4 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + '11p15.4 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_141118 Label: Nasal encephalocele - 'Nasal encephalocele' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasal encephalocele' SubClassOf 'clinical subtype' - 'Nasal encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' + 'Nasal encephalocele' SubClassOf 'clinical subtype' + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_108989 Label: Non-syndromic central nervous system malformation - 'Non-syndromic central nervous system malformation' SubClassOf 'group of disorders' + 'Non-syndromic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293888 Label: Familial isolated arrhythmogenic ventricular dysplasia, left dominant form - 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'clinical subtype' - 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'clinical subtype' + 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1178 Label: Ataxia - tapetoretinal degeneration - 'Ataxia - tapetoretinal degeneration' SubClassOf 'disease' - 'Ataxia - tapetoretinal degeneration' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Ataxia - tapetoretinal degeneration' SubClassOf 'disease' + 'Ataxia - tapetoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1179 Label: Benign paroxysmal tonic upgaze of childhood with ataxia - 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'part_of' some 'Rare paroxysmal movement disorder' - 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'disease' + 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'disease' + 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare paroxysmal movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_1177 Label: Early-onset cerebellar ataxia with retained tendon reflexes - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'disease' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'disease' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_165994 Label: Selective pituitary resistance to thyroid hormone - 'Selective pituitary resistance to thyroid hormone' SubClassOf 'disease' - 'Selective pituitary resistance to thyroid hormone' SubClassOf 'part_of' some 'Rare hyperthyroidism' + 'Selective pituitary resistance to thyroid hormone' SubClassOf 'disease' + 'Selective pituitary resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_251582 Label: Gliomatosis cerebri - 'Gliomatosis cerebri' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gliomatosis cerebri' SubClassOf 'disease' - 'Gliomatosis cerebri' SubClassOf 'part_of' some 'High-grade astrocytoma' - 'Gliomatosis cerebri' SubClassOf 'has_inheritance' some 'sporadic' + 'Gliomatosis cerebri' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gliomatosis cerebri' SubClassOf 'disease' + 'Gliomatosis cerebri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'High-grade astrocytoma' + 'Gliomatosis cerebri' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1174 Label: Cerebellar ataxia - ectodermal dysplasia - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'malformation syndrome' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'malformation syndrome' + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165991 Label: Exercise-induced hyperinsulinism - 'Exercise-induced hyperinsulinism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Exercise-induced hyperinsulinism' SubClassOf 'disease' - 'Exercise-induced hyperinsulinism' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Exercise-induced hyperinsulinism' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Exercise-induced hyperinsulinism' SubClassOf 'disease' + 'Exercise-induced hyperinsulinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_1175 Label: X-linked progressive cerebellar ataxia - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked progressive cerebellar ataxia' SubClassOf 'disease' - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'Spinocerebellar ataxia with oculomotor anomaly' - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked progressive cerebellar ataxia' SubClassOf 'disease' + 'X-linked progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked progressive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia with oculomotor anomaly' + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_314041 Label: Marfanoid habitus - inguinal hernia - advanced bone age - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'malformation syndrome' - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1172 Label: Autosomal recessive cerebellar ataxia - 'Autosomal recessive cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1173 Label: Cerebellar ataxia - hypogonadism - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_prevalence' some 'Unknown' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'disease' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebellar ataxia - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'disease' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebellar ataxia - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1170 Label: Autosomal recessive cerebelloparenchymal disorder type 3 - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'disease' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital cerebellar ataxia' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251589 Label: Anaplastic astrocytoma - 'Anaplastic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Anaplastic astrocytoma' SubClassOf 'part_of' some 'High-grade astrocytoma' - 'Anaplastic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Anaplastic astrocytoma' SubClassOf 'disease' + 'Anaplastic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'High-grade astrocytoma' + 'Anaplastic astrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86820 Label: Familial avascular necrosis of femoral head - 'Familial avascular necrosis of femoral head' SubClassOf 'disease' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Primary avascular necrosis' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Avascular necrosis of genetic origin' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial avascular necrosis of femoral head' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Familial avascular necrosis of femoral head' SubClassOf 'disease' + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Avascular necrosis of genetic origin' + 'Familial avascular necrosis of femoral head' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial avascular necrosis of femoral head' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_118260 Label: receptor accessory protein 1 - 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 31' - 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' - 'receptor accessory protein 1' SubClassOf 'gene' + 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 31' + 'receptor accessory protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'receptor accessory protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1171 Label: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'disease' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'disease' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_326554 Label: polyhomeotic homolog 1 (Drosophila) - 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'gene' + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295091 Label: Congenital absence of thigh and lower leg with foot present, bilateral - 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present' - 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of thigh and lower leg with foot present' + 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108971 Label: Non-syndromic visceral malformation - 'Non-syndromic visceral malformation' SubClassOf 'group of disorders' + 'Non-syndromic visceral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251579 Label: Giant cell glioblastoma - 'Giant cell glioblastoma' SubClassOf 'part_of' some 'Glioblastoma' - 'Giant cell glioblastoma' SubClassOf 'histopathological subtype' - 'Giant cell glioblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Giant cell glioblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Giant cell glioblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glioblastoma' + 'Giant cell glioblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Giant cell glioblastoma' SubClassOf 'histopathological subtype' + 'Giant cell glioblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_329324 Label: Inverse Klippel-Tr�naunay syndrome - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'disease' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'disease' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86813 Label: Helicoid peripapillary chorioretinal degeneration - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'disease' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'disease' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295093 Label: Congenital absence of both forearm and hand, unilateral - 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand' - 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both forearm and hand, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both forearm and hand' + 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_211266 Label: Arteriovenous malformation - 'Arteriovenous malformation' SubClassOf 'group of disorders' + 'Arteriovenous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108973 Label: Syndromic visceral malformation - 'Syndromic visceral malformation' SubClassOf 'group of disorders' + 'Syndromic visceral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86812 Label: Autosomal recessive limb-girdle muscular dystrophy type 2K - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_165988 Label: Diazoxide-resistant diffuse hyperinsulinism - 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86815 Label: Aplasia of lacrimal and salivary glands - 'Aplasia of lacrimal and salivary glands' SubClassOf 'disease' - 'Aplasia of lacrimal and salivary glands' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' + 'Aplasia of lacrimal and salivary glands' SubClassOf 'disease' + 'Aplasia of lacrimal and salivary glands' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' Class: http://www.orpha.net/ORDO/Orphanet_329329 Label: Autosomal recessive frontotemporal pachygyria - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'malformation syndrome' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'malformation syndrome' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive frontotemporal pachygyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive frontotemporal pachygyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295095 Label: Congenital absence of both forearm and hand, bilateral - 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand' + 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both forearm and hand, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_97978 Label: Rare endocrine disease - 'Rare endocrine disease' SubClassOf 'group of disorders' + 'Rare endocrine disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86814 Label: Benign adult familial myoclonic epilepsy - 'Benign adult familial myoclonic epilepsy' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'part_of' some 'Primary myoclonus' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'disease' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_prevalence' some 'Unknown' + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary myoclonus' + 'Benign adult familial myoclonic epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Benign adult familial myoclonic epilepsy' SubClassOf 'disease' + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54057 Label: Thrombotic thrombocytopenic purpura - 'Thrombotic thrombocytopenic purpura' SubClassOf 'disease' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a platelet anomaly' + 'Thrombotic thrombocytopenic purpura' SubClassOf 'disease' + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Thrombotic thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a platelet anomaly' + 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Thrombotic thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_173500 Label: solute carrier family 36 (proton/amino acid symporter), member 2 - 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'gene' - 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_86817 Label: Hemolytic anemia due to adenylate kinase deficiency - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'disease' - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295097 Label: Congenital absence of both lower leg and foot, unilateral - 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype' - 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot' + 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_108977 Label: Non-syndromic diaphragmatic or abdominal wall malformation - 'Non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' + 'Non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86816 Label: Congenital analbuminemia - 'Congenital analbuminemia' SubClassOf 'part_of' some 'Rare genetic hematologic disease' - 'Congenital analbuminemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital analbuminemia' SubClassOf 'part_of' some 'Rare hematologic disease' - 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital analbuminemia' SubClassOf 'disease' - 'Congenital analbuminemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital analbuminemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hematologic disease' + 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital analbuminemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital analbuminemia' SubClassOf 'disease' + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_300333 Label: Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'disease' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86819 Label: Atrichia with papular lesions - 'Atrichia with papular lesions' SubClassOf 'disease' - 'Atrichia with papular lesions' SubClassOf 'part_of' some 'Alopecia' + 'Atrichia with papular lesions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Atrichia with papular lesions' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295099 Label: Congenital absence of both lower leg and foot, bilateral - 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot' - 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_108979 Label: Syndromic diaphragmatic or abdominal wall malformation - 'Syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' + 'Syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86818 Label: Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome X' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'disease' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome X' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'disease' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_47159 Label: Proximal renal tubular acidosis - 'Proximal renal tubular acidosis' SubClassOf 'disease' - 'Proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Proximal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' + 'Proximal renal tubular acidosis' SubClassOf 'disease' + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_300337 Label: Congenital blindness due to retinal non-attachment - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital blindness due to retinal non-attachment' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1000.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital blindness due to retinal non-attachment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_138671 Label: hemoglobin, alpha 1 - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, alpha 1' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' - 'hemoglobin, alpha 1' SubClassOf 'gene' - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, alpha 1' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' + 'hemoglobin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_319192 Label: Diencephalic-mesencephalic junction dysplasia - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'part_of' some 'Genetic cerebral malformation' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'part_of' some 'Cerebral malformation' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'morphological anomaly' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebral malformation' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'morphological anomaly' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_141103 Label: Nasal dermoid cyst - 'Nasal dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Nasal dermoid cyst' SubClassOf 'morphological anomaly' + 'Nasal dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dermoid cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251592 Label: Low-grade astrocytoma - 'Low-grade astrocytoma' SubClassOf 'group of disorders' + 'Low-grade astrocytoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1168 Label: Ataxia - oculomotor apraxia type 1 - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_118274 Label: ret proto-oncogene - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2A' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2B' - 'ret proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' - 'ret proto-oncogene' SubClassOf 'gene' - 'ret proto-oncogene' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2A' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2B' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ret proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'ret proto-oncogene' SubClassOf 'Candidate gene tested in' some 'Hereditary pheochromocytoma-paraganglioma' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral renal agenesis' + 'ret proto-oncogene' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1163 Label: Aspergillosis - 'Aspergillosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Aspergillosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aspergillosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Aspergillosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Aspergillosis' SubClassOf 'disease' + 'Aspergillosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Aspergillosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Aspergillosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1164 Label: Allergic bronchopulmonary aspergillosis - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'part_of' some 'Rare allergic respiratory disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare allergic respiratory disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_251595 Label: Diffuse astrocytoma - 'Diffuse astrocytoma' SubClassOf 'disease' - 'Diffuse astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Diffuse astrocytoma' SubClassOf 'disease' + 'Diffuse astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_319199 Label: Autosomal recessive spastic paraplegia type 53 - 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 53' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118272 Label: reelin - 'reelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly syndrome, Norman-Roberts type' - 'reelin' SubClassOf 'gene' + 'reelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'reelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly syndrome, Norman-Roberts type' + 'reelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276603 Label: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'part_of' some 'Diazoxide-resistant focal hyperinsulinism' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-resistant focal hyperinsulinism' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1166 Label: Congenital unilateral hypoplasia of depressor anguli oris - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'morphological anomaly' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'part_of' some 'Rare head and neck malformation' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare head and neck malformation' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'morphological anomaly' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_86830 Label: Unclassified chronic myeloproliferative disease - 'Unclassified chronic myeloproliferative disease' SubClassOf 'disease' - 'Unclassified chronic myeloproliferative disease' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Unclassified chronic myeloproliferative disease' SubClassOf 'disease' + 'Unclassified chronic myeloproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_314051 Label: Leukoencephalopathy - thalamus and brainstem anomalies - high lactate - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'part_of' some 'Leukodystrophy' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1160 Label: Chylous ascites - 'Chylous ascites' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Chylous ascites' SubClassOf 'disease' - 'Chylous ascites' SubClassOf 'part_of' some 'Rare abdominal surgical disease' + 'Chylous ascites' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Chylous ascites' SubClassOf 'disease' + 'Chylous ascites' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_319195 Label: Chondroectodermal dysplasia with night blindness - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'disease' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Rare genetic eye disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic eye disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf 'disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_251598 Label: Protoplasmic astrocytoma - 'Protoplasmic astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' - 'Protoplasmic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Protoplasmic astrocytoma' SubClassOf 'histopathological subtype' - 'Protoplasmic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Protoplasmic astrocytoma' SubClassOf 'histopathological subtype' + 'Protoplasmic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Protoplasmic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' + 'Protoplasmic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_211277 Label: Complex - combined vascular malformation - 'Complex - combined vascular malformation' SubClassOf 'group of disorders' + 'Complex - combined vascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86823 Label: Lissencephaly with cerebellar hypoplasia - 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'group of disorders' + 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295081 Label: Fibular hemimelia, unilateral - 'Fibular hemimelia, unilateral' SubClassOf 'part_of' some 'Fibular hemimelia' - 'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Fibular hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibular hemimelia' + 'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108961 Label: Syndromic esophageal malformation - 'Syndromic esophageal malformation' SubClassOf 'group of disorders' + 'Syndromic esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86822 Label: Lissencephaly type 3 - metacarpal bone dysplasia - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'malformation syndrome' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'malformation syndrome' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_329314 Label: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86821 Label: Lissencephaly type 3 - familial fetal akinesia sequence - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'malformation syndrome' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'malformation syndrome' + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' Class: http://www.orpha.net/ORDO/Orphanet_97965 Label: Rare surgical cardiac disease - 'Rare surgical cardiac disease' SubClassOf 'group of disorders' + 'Rare surgical cardiac disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295085 Label: Congenital absence of upper arm and forearm with hand present, unilateral - 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present' - 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of upper arm and forearm with hand present' + 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108965 Label: Syndromic gastroduodenal malformation - 'Syndromic gastroduodenal malformation' SubClassOf 'group of disorders' + 'Syndromic gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295083 Label: Fibular hemimelia, bilateral - 'Fibular hemimelia, bilateral' SubClassOf 'part_of' some 'Fibular hemimelia' - 'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Fibular hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibular hemimelia' + 'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108963 Label: Non-syndromic gastroduodenal malformation - 'Non-syndromic gastroduodenal malformation' SubClassOf 'group of disorders' + 'Non-syndromic gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_97966 Label: Rare eye disease - 'Rare eye disease' SubClassOf 'group of disorders' + 'Rare eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329319 Label: Hereditary thrombocytosis with transverse limb defect - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a constitutional platelet anomaly' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'disease' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'disease' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a constitutional platelet anomaly' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295089 Label: Congenital absence of thigh and lower leg with foot present, unilateral - 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present' - 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of thigh and lower leg with foot present' + 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108969 Label: Syndromic intestinal malformation - 'Syndromic intestinal malformation' SubClassOf 'group of disorders' + 'Syndromic intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86829 Label: Chronic neutrophilic leukemia - 'Chronic neutrophilic leukemia' SubClassOf 'disease' - 'Chronic neutrophilic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic neutrophilic leukemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Chronic neutrophilic leukemia' SubClassOf 'disease' + 'Chronic neutrophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Chronic neutrophilic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_300324 Label: Persistent polyclonal B-cell lymphocytosis - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'part_of' some 'Lymphoid hemopathy' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'disease' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoid hemopathy' + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295087 Label: Congenital absence of upper arm and forearm with hand present, bilateral - 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present' - 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_108967 Label: Non-syndromic intestinal malformation - 'Non-syndromic intestinal malformation' SubClassOf 'group of disorders' + 'Non-syndromic intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356939 Label: UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'gene' - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia with joint laxity' - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, progeroid type' + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spondyloepimetaphyseal dysplasia with joint laxity' + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ehlers-Danlos syndrome, progeroid type' Class: http://www.orpha.net/ORDO/Orphanet_371950 Label: FAT atypical cadherin 4 - 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' - 'FAT atypical cadherin 4' SubClassOf 'gene' + 'FAT atypical cadherin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' + 'FAT atypical cadherin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28.1"^^http://www.w3.org/2001/XMLSchema#string + 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171215 Label: Low anorectal malformation - 'Low anorectal malformation' SubClassOf 'morphological anomaly' - 'Low anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'Low anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' + 'Low anorectal malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_284296 Label: anoctamin 10 - 'anoctamin 10' SubClassOf 'gene' - 'anoctamin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive cerebellar ataxia' + 'anoctamin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1-p21.33"^^http://www.w3.org/2001/XMLSchema#string + 'anoctamin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive cerebellar ataxia' + 'anoctamin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251523 Label: Recurrent infections - inflammatory syndrome due to zinc metabolism disorder - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'part_of' some 'Disorder of zinc metabolism' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of zinc metabolism' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_118283 Label: replication factor C (activator 1) 2, 40kDa - 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'gene' - 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'replication factor C (activator 1) 2, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'replication factor C (activator 1) 2, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1110 Label: Aortic arch anomaly - peculiar facies - intellectual disability - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'malformation syndrome' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319189 Label: Familial cortical myoclonus - 'Familial cortical myoclonus' SubClassOf 'disease' - 'Familial cortical myoclonus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cortical myoclonus' SubClassOf 'part_of' some 'Primary myoclonus' + 'Familial cortical myoclonus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary myoclonus' + 'Familial cortical myoclonus' SubClassOf 'disease' + 'Familial cortical myoclonus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118286 Label: regulatory factor X, 5 (influences HLA class II expression) - 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'gene' + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1115 Label: Recessive aplasia cutis congenita of limbs - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'disease' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'disease' + 'Recessive aplasia cutis congenita of limbs' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_320756 Label: anoctamin 3 - 'anoctamin 3' SubClassOf 'gene' - 'anoctamin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cervical dystonia' + 'anoctamin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.2"^^http://www.w3.org/2001/XMLSchema#string + 'anoctamin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cervical dystonia' + 'anoctamin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293825 Label: Congenital dyserythropoietic anemia type IV - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital dyserythropoietic anemia type IV' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type IV' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1114 Label: Circumscribed cutaneous aplasia of the vertex - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_prevalence' some 'Unknown' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'malformation syndrome' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'malformation syndrome' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1113 Label: Aphalangy - syndactyly - microcephaly - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'malformation syndrome' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'malformation syndrome' + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Aphalangy - syndactyly - microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1112 Label: Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_293822 Label: MITF-related melanoma and renal cell carcinoma predisposition syndrome - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'disease' - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'disease' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1118 Label: Fibular aplasia - ectrodactyly - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fibular aplasia - ectrodactyly' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Fibular aplasia - ectrodactyly' SubClassOf 'malformation syndrome' - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fibular aplasia - ectrodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fibular aplasia - ectrodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fibular aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fibular aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Fibular aplasia - ectrodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_330041 Label: Autosomal dominant methemoglobinemia - 'Autosomal dominant methemoglobinemia' SubClassOf 'clinical subtype' - 'Autosomal dominant methemoglobinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant methemoglobinemia' SubClassOf 'part_of' some 'Hereditary methemoglobinemia' - 'Autosomal dominant methemoglobinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant methemoglobinemia' SubClassOf 'clinical subtype' + 'Autosomal dominant methemoglobinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_138681 Label: split hand/foot malformation (ectrodactyly) type 1 - 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'gene' - 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_1117 Label: Aplasia cutis - myopia - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Aplasia cutis - myopia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aplasia cutis - myopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aplasia cutis - myopia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aplasia cutis - myopia' SubClassOf 'disease' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Syndromic myopia' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Aplasia cutis - myopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aplasia cutis - myopia' SubClassOf 'disease' + 'Aplasia cutis - myopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' Class: http://www.orpha.net/ORDO/Orphanet_319182 Label: Wiedemann-Steiner syndrome - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Wiedemann-Steiner syndrome' SubClassOf 'malformation syndrome' - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Steiner syndrome' SubClassOf 'malformation syndrome' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1116 Label: Aplasia cutis congenita - intestinal lymphangiectasia - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'disease' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295077 Label: Tibial hemimelia, unilateral - 'Tibial hemimelia, unilateral' SubClassOf 'part_of' some 'Tibial hemimelia' - 'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Tibial hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tibial hemimelia' + 'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_329308 Label: Fatty acid hydroxylase-associated neurodegeneration - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_300359 Label: PLCG2-associated antibody deficiency and immune dysregulation - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Rare urticaria' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune dysregulation disease with immunodeficiency' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295079 Label: Tibial hemimelia, bilateral - 'Tibial hemimelia, bilateral' SubClassOf 'part_of' some 'Tibial hemimelia' - 'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Tibial hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tibial hemimelia' + 'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295073 Label: Ulnar hemimelia, bilateral - 'Ulnar hemimelia, bilateral' SubClassOf 'part_of' some 'Ulnar hemimelia' - 'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_118288 Label: regulatory factor X-associated ankyrin-containing protein - 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'gene' + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p12"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' Class: http://www.orpha.net/ORDO/Orphanet_295075 Label: Ulnar hemimelia, unilateral - 'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype' - 'Ulnar hemimelia, unilateral' SubClassOf 'part_of' some 'Ulnar hemimelia' + 'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_371941 Label: dachsous cadherin-related 1 - 'dachsous cadherin-related 1' SubClassOf 'gene' - 'dachsous cadherin-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' + 'dachsous cadherin-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'dachsous cadherin-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dachsous cadherin-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' Class: http://www.orpha.net/ORDO/Orphanet_356947 Label: 3q26q27 microdeletion syndrome - '3q26q27 microdeletion syndrome' SubClassOf 'malformation syndrome' - '3q26q27 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3q26q27 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' + '3q26q27 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3q26q27 microdeletion syndrome' SubClassOf 'malformation syndrome' + '3q26q27 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_329303 Label: PLA2G6-associated neurodegeneration - 'PLA2G6-associated neurodegeneration' SubClassOf 'group of disorders' + 'PLA2G6-associated neurodegeneration' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171220 Label: Rectal duplication - 'Rectal duplication' SubClassOf 'morphological anomaly' - 'Rectal duplication' SubClassOf 'part_of' some 'Anorectal malformation' + 'Rectal duplication' SubClassOf 'morphological anomaly' + 'Rectal duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_276608 Label: Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'part_of' some 'Familial hyperinsulinism' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'disease' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'disease' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperinsulinism' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295071 Label: Radial hemimelia, bilateral - 'Radial hemimelia, bilateral' SubClassOf 'part_of' some 'Radial hemimelia' - 'Radial hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Radial hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radial hemimelia' + 'Radial hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251515 Label: Distal arthrogryposis type 10 - 'Distal arthrogryposis type 10' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal arthrogryposis type 10' SubClassOf 'malformation syndrome' - 'Distal arthrogryposis type 10' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Distal arthrogryposis type 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal arthrogryposis type 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal arthrogryposis type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal arthrogryposis type 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal arthrogryposis type 10' SubClassOf 'malformation syndrome' + 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118293 Label: regulatory factor X-associated protein - 'regulatory factor X-associated protein' SubClassOf 'gene' - 'regulatory factor X-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'regulatory factor X-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' Class: http://www.orpha.net/ORDO/Orphanet_330058 Label: Hydroa vacciniforme - 'Hydroa vacciniforme' SubClassOf 'disease' - 'Hydroa vacciniforme' SubClassOf 'has_inheritance' some 'sporadic' - 'Hydroa vacciniforme' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hydroa vacciniforme' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hydroa vacciniforme' SubClassOf 'part_of' some 'Rare photodermatosis' + 'Hydroa vacciniforme' SubClassOf 'disease' + 'Hydroa vacciniforme' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hydroa vacciniforme' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hydroa vacciniforme' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydroa vacciniforme' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hydroa vacciniforme' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_276621 Label: Sporadic pheochromocytoma/secreting paraganglioma - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'disease' + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'disease' + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' Class: http://www.orpha.net/ORDO/Orphanet_171208 Label: Intermediate anorectal malformation - 'Intermediate anorectal malformation' SubClassOf 'morphological anomaly' - 'Intermediate anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'Intermediate anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' + 'Intermediate anorectal malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_118295 Label: retinal G protein coupled receptor - 'retinal G protein coupled receptor' SubClassOf 'gene' - 'retinal G protein coupled receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinal G protein coupled receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal G protein coupled receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'retinal G protein coupled receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_276624 Label: Sporadic pheochromocytoma - 'Sporadic pheochromocytoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic pheochromocytoma' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' - 'Sporadic pheochromocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic pheochromocytoma' SubClassOf 'clinical subtype' + 'Sporadic pheochromocytoma' SubClassOf 'clinical subtype' + 'Sporadic pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic pheochromocytoma/secreting paraganglioma' + 'Sporadic pheochromocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_85102 Label: Perineurioma - 'Perineurioma' SubClassOf 'group of disorders' + 'Perineurioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293812 Label: Fixed pigmented erythema - 'Fixed pigmented erythema' SubClassOf 'has_inheritance' some 'sporadic' - 'Fixed pigmented erythema' SubClassOf 'part_of' some 'Toxic dermatosis' - 'Fixed pigmented erythema' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fixed pigmented erythema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fixed pigmented erythema' SubClassOf 'disease' + 'Fixed pigmented erythema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fixed pigmented erythema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fixed pigmented erythema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fixed pigmented erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Fixed pigmented erythema' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1101 Label: Anophthalmia - megalocornea - cardiopathy - skeletal anomalies - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_330050 Label: Lethal encephalopathy due to mitochondrial and peroxisomal fission defect - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_293815 Label: Toxic dermatosis - 'Toxic dermatosis' SubClassOf 'group of disorders' + 'Toxic dermatosis' SubClassOf 'group of disorders' + 'Toxic dermatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1104 Label: Anophthalmia plus syndrome - 'Anophthalmia plus syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia plus syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anophthalmia plus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia plus syndrome' SubClassOf 'malformation syndrome' + 'Anophthalmia plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Anophthalmia plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia plus syndrome' SubClassOf 'malformation syndrome' + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1106 Label: Microphthalmia with limb anomalies - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia with limb anomalies' SubClassOf 'malformation syndrome' - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microphthalmia with limb anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia with limb anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microphthalmia with limb anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microphthalmia with limb anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia with limb anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319171 Label: Distal 17p13.1 microdeletion syndrome - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_330054 Label: Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Syndromic cataract' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_295069 Label: Radial hemimelia, unilateral - 'Radial hemimelia, unilateral' SubClassOf 'clinical subtype' - 'Radial hemimelia, unilateral' SubClassOf 'part_of' some 'Radial hemimelia' + 'Radial hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Radial hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295067 Label: Femoral agenesis/hypoplasia, bilateral - 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia' - 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Femoral agenesis/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Femoral agenesis/hypoplasia' + 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295065 Label: Femoral agenesis/hypoplasia, unilateral - 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia' - 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' + 'Femoral agenesis/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Femoral agenesis/hypoplasia' + 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_300345 Label: Autosomal recessive systemic lupus erythematosus - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive systemic lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295063 Label: Humeral agenesis/hypoplasia, bilateral - 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia' - 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Humeral agenesis/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_216804 Label: Osteogenesis imperfecta type 2 - 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteogenesis imperfecta type 2' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 2' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Osteogenesis imperfecta type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295061 Label: Humeral agenesis/hypoplasia, unilateral - 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' - 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia' + 'Humeral agenesis/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humeral agenesis/hypoplasia' + 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251529 Label: Toxic or drug-related embryofetopathy - 'Toxic or drug-related embryofetopathy' SubClassOf 'group of disorders' + 'Toxic or drug-related embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118299 Label: regulator of G-protein signaling 9 - 'regulator of G-protein signaling 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' - 'regulator of G-protein signaling 9' SubClassOf 'gene' + 'regulator of G-protein signaling 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulator of G-protein signaling 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24"^^http://www.w3.org/2001/XMLSchema#string + 'regulator of G-protein signaling 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' Class: http://www.orpha.net/ORDO/Orphanet_330029 Label: Hypotrichosis-deafness syndrome - 'Hypotrichosis-deafness syndrome' SubClassOf 'disease' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Alopecia' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Erythrokeratoderma variabilis progressiva' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypotrichosis-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis-deafness syndrome' SubClassOf 'disease' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma variabilis progressiva' Class: http://www.orpha.net/ORDO/Orphanet_1133 Label: AREDYLD syndrome - 'AREDYLD syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'AREDYLD syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'AREDYLD syndrome' SubClassOf 'malformation syndrome' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'AREDYLD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'AREDYLD syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'AREDYLD syndrome' SubClassOf 'malformation syndrome' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'AREDYLD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1132 Label: Aortic arch defects - 'Aortic arch defects' SubClassOf 'group of disorders' - 'Aortic arch defects' SubClassOf 'has_inheritance' some 'sporadic' - 'Aortic arch defects' SubClassOf 'has_prevalence' some 'Unknown' - 'Aortic arch defects' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Aortic arch defects' SubClassOf 'group of disorders' + 'Aortic arch defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aortic arch defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1131 Label: X-linked mandibulofacial dysostosis - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked mandibulofacial dysostosis' SubClassOf 'malformation syndrome' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'X-linked mandibulofacial dysostosis' SubClassOf 'malformation syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked mandibulofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked mandibulofacial dysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_284278 Label: synaptotagmin XIV - 'synaptotagmin XIV' SubClassOf 'gene' - 'synaptotagmin XIV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia - psychomotor retardation' + 'synaptotagmin XIV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia - psychomotor retardation' + 'synaptotagmin XIV' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'synaptotagmin XIV' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1130 Label: Arachnodactyly - intellectual disability - dysmorphism - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'malformation syndrome' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276630 Label: Symptomatic form of Coffin-Lowry syndrome in female carriers - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'malformation syndrome' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some 'sporadic' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'malformation syndrome' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_330021 Label: Mercury poisoning - 'Mercury poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mercury poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Mercury poisoning' SubClassOf 'disease' + 'Mercury poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Mercury poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Mercury poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293843 Label: Craniofacial-ulnar-renal syndrome - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Craniofacial-ulnar-renal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284271 Label: Autosomal recessive cerebellar ataxia - psychomotor retardation - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_319160 Label: Congenital myopathy with internal nuclei and atypical cores - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'disease' - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'part_of' some 'Congenital myopathy with cores' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'disease' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy with cores' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1138 Label: Abnormal origin of the pulmonary artery - 'Abnormal origin of the pulmonary artery' SubClassOf 'group of disorders' + 'Abnormal origin of the pulmonary artery' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293848 Label: Right temporal lobar atrophy - 'Right temporal lobar atrophy' SubClassOf 'disease' - 'Right temporal lobar atrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Right temporal lobar atrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Right temporal lobar atrophy' SubClassOf 'part_of' some 'Frontotemporal dementia' + 'Right temporal lobar atrophy' SubClassOf 'disease' + 'Right temporal lobar atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Right temporal lobar atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Right temporal lobar atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_1136 Label: Arnold-Chiari malformation type II - 'Arnold-Chiari malformation type II' SubClassOf 'has_inheritance' some 'sporadic' - 'Arnold-Chiari malformation type II' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Arnold-Chiari malformation type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Arnold-Chiari malformation type II' SubClassOf 'morphological anomaly' - 'Arnold-Chiari malformation type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arnold-Chiari malformation type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arnold-Chiari malformation type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Arnold-Chiari malformation type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arnold-Chiari malformation type II' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1135 Label: Arrhinia - choanal atresia - microphthalmia - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'malformation syndrome' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'malformation syndrome' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1134 Label: Arrhinia - 'Arrhinia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arrhinia' SubClassOf 'malformation syndrome' - 'Arrhinia' SubClassOf 'has_inheritance' some 'sporadic' - 'Arrhinia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arrhinia' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Arrhinia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Arrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arrhinia' SubClassOf 'malformation syndrome' + 'Arrhinia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arrhinia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295055 Label: Amelia of upper limb, bilateral - 'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype' - 'Amelia of upper limb, bilateral' SubClassOf 'part_of' some 'Amelia of upper limb' + 'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of upper limb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295057 Label: Amelia of lower limb, unilateral - 'Amelia of lower limb, unilateral' SubClassOf 'part_of' some 'Amelia of lower limb' - 'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of lower limb' + 'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295059 Label: Amelia of lower limb, bilateral - 'Amelia of lower limb, bilateral' SubClassOf 'part_of' some 'Amelia of lower limb' - 'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_251535 Label: Maternal disease-related embryofetopathy - 'Maternal disease-related embryofetopathy' SubClassOf 'group of disorders' + 'Maternal disease-related embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300373 Label: Familial infantile gigantism - 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial infantile gigantism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial infantile gigantism' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Familial infantile gigantism' SubClassOf 'part_of' some 'Rare genetic hypothalamic or pituitary disease' - 'Familial infantile gigantism' SubClassOf 'disease' + 'Familial infantile gigantism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hypothalamic or pituitary disease' + 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial infantile gigantism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Familial infantile gigantism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial infantile gigantism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' + 'Familial infantile gigantism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_311271 Label: mitochondrial poly(A) polymerase - 'mitochondrial poly(A) polymerase' SubClassOf 'gene' - 'mitochondrial poly(A) polymerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' + 'mitochondrial poly(A) polymerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial poly(A) polymerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' + 'mitochondrial poly(A) polymerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295051 Label: Lower limb hypertrophy - 'Lower limb hypertrophy' SubClassOf 'part_of' some 'Limb overgrowth' - 'Lower limb hypertrophy' SubClassOf 'morphological anomaly' + 'Lower limb hypertrophy' SubClassOf 'morphological anomaly' + 'Lower limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_295053 Label: Amelia of upper limb, unilateral - 'Amelia of upper limb, unilateral' SubClassOf 'part_of' some 'Amelia of upper limb' - 'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype' + 'Amelia of upper limb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of upper limb' + 'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_276627 Label: Sporadic secreting paraganglioma - 'Sporadic secreting paraganglioma' SubClassOf 'clinical subtype' - 'Sporadic secreting paraganglioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic secreting paraganglioma' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' - 'Sporadic secreting paraganglioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Sporadic secreting paraganglioma' SubClassOf 'clinical subtype' + 'Sporadic secreting paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_1120 Label: Lung agenesis - heart defect - thumb anomalies - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'malformation syndrome' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'malformation syndrome' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_284289 Label: Adult-onset autosomal recessive cerebellar ataxia - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'disease' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'disease' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1122 Label: Ulnar hypoplasia - split foot - 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' - 'Ulnar hypoplasia - split foot' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Ulnar hypoplasia - split foot' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1121 Label: Radial deficiency - tibial hypoplasia - 'Radial deficiency - tibial hypoplasia' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Radial deficiency - tibial hypoplasia' SubClassOf 'malformation syndrome' + 'Radial deficiency - tibial hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Radial deficiency - tibial hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231108 Label: Familial rhabdoid tumor - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Rhabdoid tumor' - 'Familial rhabdoid tumor' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial rhabdoid tumor' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Familial rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial rhabdoid tumor' SubClassOf 'clinical subtype' + 'Familial rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial rhabdoid tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic soft tissue tumor' + 'Familial rhabdoid tumor' SubClassOf 'clinical subtype' + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhabdoid tumor' + 'Familial rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_284282 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_293830 Label: Constitutional dyserythropoietic anemia - 'Constitutional dyserythropoietic anemia' SubClassOf 'group of disorders' - 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Constitutional dyserythropoietic anemia' SubClassOf 'group of disorders' + 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_330032 Label: Hemoglobin Lepore - beta-thalassemia - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'disease' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1129 Label: Arachnodactyly - abnormal ossification - intellectual disability - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'malformation syndrome' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'malformation syndrome' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320765 Label: dehydrogenase E1 and transketolase domain containing 1 - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'gene' - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some '2-aminoadipic 2-oxoadipic aciduria' + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p14"^^http://www.w3.org/2001/XMLSchema#string + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some '2-aminoadipic 2-oxoadipic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_1123 Label: Caudal appendage - deafness - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1126 Label: Aprosencephaly cerebellar dysgenesis - 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'part_of' some 'Midline cerebral malformation' - 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'malformation syndrome' + 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'malformation syndrome' + 'Aprosencephaly cerebellar dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1125 Label: Ocular motor apraxia, Cogan type - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ocular motor apraxia, Cogan type' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Ocular motor apraxia, Cogan type' SubClassOf 'disease' - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ocular motor apraxia, Cogan type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular motor apraxia, Cogan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ocular motor apraxia, Cogan type' SubClassOf 'disease' + 'Ocular motor apraxia, Cogan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ocular motor apraxia, Cogan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_307766 Label: Curly hair-acral keratoderma-caries syndrome - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295044 Label: Macrodactyly of fingers - 'Macrodactyly of fingers' SubClassOf 'morphological anomaly' - 'Macrodactyly of fingers' SubClassOf 'part_of' some 'Limb overgrowth' + 'Macrodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Macrodactyly of fingers' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295049 Label: Upper limb hypertrophy - 'Upper limb hypertrophy' SubClassOf 'part_of' some 'Limb overgrowth' - 'Upper limb hypertrophy' SubClassOf 'morphological anomaly' + 'Upper limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Upper limb hypertrophy' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295047 Label: Macrodactyly of toes - 'Macrodactyly of toes' SubClassOf 'part_of' some 'Limb overgrowth' - 'Macrodactyly of toes' SubClassOf 'morphological anomaly' + 'Macrodactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Macrodactyly of toes' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231117 Label: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_164823 Label: Rare acquired medullar aplasia - 'Rare acquired medullar aplasia' SubClassOf 'group of disorders' + 'Rare acquired medullar aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295041 Label: Patella aplasia/hypoplasia, bilateral - 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype' - 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia' + 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Patella aplasia/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_231111 Label: Drug-induced lupus erythematosus - 'Drug-induced lupus erythematosus' SubClassOf 'part_of' some 'Rare systemic disease' - 'Drug-induced lupus erythematosus' SubClassOf 'has_inheritance' some 'sporadic' - 'Drug-induced lupus erythematosus' SubClassOf 'disease' - 'Drug-induced lupus erythematosus' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Drug-induced lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Drug-induced lupus erythematosus' SubClassOf 'has_prevalence' some 'Unknown' + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Drug-induced lupus erythematosus' SubClassOf 'disease' + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Drug-induced lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Drug-induced lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_216729 Label: Congenitally uncorrected transposition of the great arteries with cardiac malformation - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'clinical subtype' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'part_of' some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'clinical subtype' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_295020 Label: Congenital pseudoarthrosis of the femur - 'Congenital pseudoarthrosis of the femur' SubClassOf 'clinical subtype' - 'Congenital pseudoarthrosis of the femur' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the femur' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the femur' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295022 Label: Congenital pseudoarthrosis of the fibula - 'Congenital pseudoarthrosis of the fibula' SubClassOf 'clinical subtype' - 'Congenital pseudoarthrosis of the fibula' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the fibula' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the fibula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_85138 Label: Addison disease - 'Addison disease' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Addison disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Addison disease' SubClassOf 'disease' - 'Addison disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "54.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' + 'Addison disease' SubClassOf 'disease' + 'Addison disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295024 Label: Congenital pseudoarthrosis of the radius - 'Congenital pseudoarthrosis of the radius' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the radius' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the radius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the radius' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_270347 Label: FYVE and coiled-coil domain containing 1 - 'FYVE and coiled-coil domain containing 1' SubClassOf 'gene' - 'FYVE and coiled-coil domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'FYVE and coiled-coil domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FYVE and coiled-coil domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'FYVE and coiled-coil domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' Class: http://www.orpha.net/ORDO/Orphanet_189424 Label: ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia - 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf 'group of disorders' + 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295026 Label: Congenital pseudoarthrosis of the ulna - 'Congenital pseudoarthrosis of the ulna' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the ulna' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the ulna' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the ulna' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295028 Label: Tibio-fibular synostosis - 'Tibio-fibular synostosis' SubClassOf 'part_of' some 'Joint formation defects' - 'Tibio-fibular synostosis' SubClassOf 'morphological anomaly' + 'Tibio-fibular synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Tibio-fibular synostosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_189427 Label: ACTH-independent macronodular adrenal hyperplasia - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'disease' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'part_of' some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'disease' + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_254913 Label: Isolated ATP synthase deficiency - 'Isolated ATP synthase deficiency' SubClassOf 'disease' - 'Isolated ATP synthase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated ATP synthase deficiency' SubClassOf 'disease' + 'Isolated ATP synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_295018 Label: Congenital pseudoarthrosis of the tibia - 'Congenital pseudoarthrosis of the tibia' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the tibia' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the tibia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the tibia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_254920 Label: Combined oxidative phosphorylation defect type 2 - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_270352 Label: phospholipase C, delta 1 - 'phospholipase C, delta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukonychia totalis' - 'phospholipase C, delta 1' SubClassOf 'gene' + 'phospholipase C, delta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase C, delta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukonychia totalis' + 'phospholipase C, delta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22-p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85146 Label: Scapuloperoneal amyotrophy - 'Scapuloperoneal amyotrophy' SubClassOf 'disease' - 'Scapuloperoneal amyotrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'Scapuloperoneal amyotrophy' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Scapuloperoneal amyotrophy' SubClassOf 'disease' + 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scapuloperoneal amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Scapuloperoneal amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' Class: http://www.orpha.net/ORDO/Orphanet_270354 Label: B9 protein domain 1 - 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'B9 protein domain 1' SubClassOf 'gene' - 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'B9 protein domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B9 protein domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319254 Label: Kyasanur forest disease - 'Kyasanur forest disease' SubClassOf 'disease' - 'Kyasanur forest disease' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Kyasanur forest disease' SubClassOf 'disease' + 'Kyasanur forest disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_319251 Label: Rift valley fever - 'Rift valley fever' SubClassOf 'disease' - 'Rift valley fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Rift valley fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Rift valley fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284264 Label: Immunoglobulin G4-related sclerosing disease - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'group of disorders' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'group of disorders' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_295030 Label: Congenital shoulder dislocation - 'Congenital shoulder dislocation' SubClassOf 'morphological anomaly' - 'Congenital shoulder dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' + 'Congenital shoulder dislocation' SubClassOf 'morphological anomaly' + 'Congenital shoulder dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_216718 Label: Isolated congenitally uncorrected transposition of the great arteries - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'clinical subtype' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Congenitally uncorrected transposition of the great arteries' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'clinical subtype' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenitally uncorrected transposition of the great arteries' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85128 Label: Bothnia retinal dystrophy - 'Bothnia retinal dystrophy' SubClassOf 'disease' - 'Bothnia retinal dystrophy' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Bothnia retinal dystrophy' SubClassOf 'disease' + 'Bothnia retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_295034 Label: Congenital knee dislocation - 'Congenital knee dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital knee dislocation' SubClassOf 'morphological anomaly' + 'Congenital knee dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital knee dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label: Isolated cytochrome C oxidase deficiency - 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' - 'Isolated cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Isolated cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_295032 Label: Congenital elbow dislocation - 'Congenital elbow dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital elbow dislocation' SubClassOf 'morphological anomaly' + 'Congenital elbow dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital elbow dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_254902 Label: Renal tubulopathy - encephalopathy - liver failure - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_295038 Label: Patella aplasia/hypoplasia, unilateral - 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype' - 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia' + 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype' + 'Patella aplasia/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295036 Label: Congenital patella dislocation - 'Congenital patella dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital patella dislocation' SubClassOf 'morphological anomaly' + 'Congenital patella dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital patella dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_391022 Label: protein Z, vitamin K-dependent plasma glycoprotein - 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'gene' - 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'Candidate gene tested in' some 'Cerebral sinovenous thrombosis' + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'Candidate gene tested in' some 'Cerebral sinovenous thrombosis' + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141199 Label: Cerebrofacial arteriovenous metameric syndrome type 3 - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2601 Label: Myopathy - growth delay - intellectual disability - hypospadias - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'malformation syndrome' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'malformation syndrome' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2604 Label: Familial visceral myopathy - 'Familial visceral myopathy' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Familial visceral myopathy' SubClassOf 'disease' - 'Familial visceral myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial visceral myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial visceral myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial visceral myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial visceral myopathy' SubClassOf 'disease' + 'Familial visceral myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial visceral myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_85136 Label: Cystic leukoencephalopathy without megalencephaly - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'disease' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'part_of' some 'Leukodystrophy' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'disease' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_319266 Label: Omsk hemorrhagic fever - 'Omsk hemorrhagic fever' SubClassOf 'disease' - 'Omsk hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Omsk hemorrhagic fever' SubClassOf 'disease' + 'Omsk hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_284258 Label: insulin-like growth factor binding protein 7 - 'insulin-like growth factor binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinal arterial macroaneurysm' - 'insulin-like growth factor binding protein 7' SubClassOf 'gene' + 'insulin-like growth factor binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'insulin-like growth factor binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinal arterial macroaneurysm' Class: http://www.orpha.net/ORDO/Orphanet_141194 Label: Cerebrofacial arteriovenous metameric syndrome type 1 - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_200951 Label: aryl hydrocarbon receptor interacting protein - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Major susceptibility factor in' some 'Acromegaly' - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'gene' - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated pituitary adenoma' + 'aryl hydrocarbon receptor interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'aryl hydrocarbon receptor interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Major susceptibility factor in' some 'Acromegaly' + 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_319239 Label: Brazilian hemorrhagic fever - 'Brazilian hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Brazilian hemorrhagic fever' SubClassOf 'disease' + 'Brazilian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Brazilian hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295004 Label: Central polydactyly of fingers - 'Central polydactyly of fingers' SubClassOf 'morphological anomaly' - 'Central polydactyly of fingers' SubClassOf 'part_of' some 'Polydactyly' + 'Central polydactyly of fingers' SubClassOf 'morphological anomaly' + 'Central polydactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295006 Label: Preaxial polydactyly of toes - 'Preaxial polydactyly of toes' SubClassOf 'morphological anomaly' - 'Preaxial polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' + 'Preaxial polydactyly of toes' SubClassOf 'morphological anomaly' + 'Preaxial polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_2609 Label: Isolated NADH-CoQ reductase deficiency - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295000 Label: Constriction rings syndrome - 'Constriction rings syndrome' SubClassOf 'malformation syndrome' - 'Constriction rings syndrome' SubClassOf 'part_of' some 'Amniotic bands' + 'Constriction rings syndrome' SubClassOf 'malformation syndrome' + 'Constriction rings syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amniotic bands' Class: http://www.orpha.net/ORDO/Orphanet_2608 Label: N syndrome - 'N syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'N syndrome' SubClassOf 'malformation syndrome' - 'N syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'N syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'N syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'N syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'N syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'N syndrome' SubClassOf 'malformation syndrome' + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'N syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'N syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'N syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'N syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_295002 Label: Hyperphalangy - 'Hyperphalangy' SubClassOf 'part_of' some 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' - 'Hyperphalangy' SubClassOf 'morphological anomaly' + 'Hyperphalangy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' + 'Hyperphalangy' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2615 Label: Nakajo-Nishimura syndrome - 'Nakajo-Nishimura syndrome' SubClassOf 'clinical subtype' - 'Nakajo-Nishimura syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nakajo-Nishimura syndrome' SubClassOf 'part_of' some 'Proteasome disability syndrome' + 'Nakajo-Nishimura syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nakajo-Nishimura syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nakajo-Nishimura syndrome' SubClassOf 'clinical subtype' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nakajo-Nishimura syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proteasome disability syndrome' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2614 Label: Nail-patella syndrome - 'Nail-patella syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Nail-patella syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Nail-patella syndrome' SubClassOf 'malformation syndrome' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Nail-patella syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Onycho-patellar syndrome with eye involvement' + 'Nail-patella syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nail-patella syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Onycho-patellar syndrome with eye involvement' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Nail-patella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Nail-patella syndrome' SubClassOf 'malformation syndrome' + 'Nail-patella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_141189 Label: Cerebrofacial arteriovenous metameric syndrome - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'group of disorders' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2613 Label: Nail-patella-like renal disease - 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nail-patella-like renal disease' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Nail-patella-like renal disease' SubClassOf 'disease' - 'Nail-patella-like renal disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Nail-patella-like renal disease' SubClassOf 'disease' + 'Nail-patella-like renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nail-patella-like renal disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2612 Label: Linear nevus sebaceus syndrome - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Linear nevus sebaceus syndrome' SubClassOf 'disease' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Palpebral nevus' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Linear nevus sebaceus syndrome' SubClassOf 'disease' + 'Linear nevus sebaceus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Linear nevus sebaceus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' + 'Linear nevus sebaceus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2611 Label: Linear verrucous nevus syndrome - 'Linear verrucous nevus syndrome' SubClassOf 'disease' - 'Linear verrucous nevus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Linear verrucous nevus syndrome' SubClassOf 'disease' + 'Linear verrucous nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_402744 Label: protein tyrosine phosphatase, non-receptor type 3 - 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'gene' - 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_400605 Label: LYR motif containing 4 - 'LYR motif containing 4' SubClassOf 'gene' - 'LYR motif containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'LYR motif containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LYR motif containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'LYR motif containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_200946 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antichymotrypsin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antichymotrypsin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_284247 Label: Familial retinal arterial macroaneurysm - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial retinal arterial macroaneurysm' SubClassOf 'malformation syndrome' - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Familial retinal arterial macroaneurysm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial retinal arterial macroaneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial retinal arterial macroaneurysm' SubClassOf 'malformation syndrome' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Familial retinal arterial macroaneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_123595 Label: myosin binding protein C, cardiac - 'myosin binding protein C, cardiac' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'myosin binding protein C, cardiac' SubClassOf 'gene' - 'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'myosin binding protein C, cardiac' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'myosin binding protein C, cardiac' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'myosin binding protein C, cardiac' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_319234 Label: Venezuelan hemorrhagic fever - 'Venezuelan hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Venezuelan hemorrhagic fever' SubClassOf 'disease' + 'Venezuelan hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Venezuelan hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141184 Label: Rapidly involuting congenital hemangioma - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rapidly involuting congenital hemangioma' SubClassOf 'disease' - 'Rapidly involuting congenital hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Rapidly involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rapidly involuting congenital hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138711 Label: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'gene' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' Class: http://www.orpha.net/ORDO/Orphanet_284227 Label: TEMPI syndrome - 'TEMPI syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'TEMPI syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'TEMPI syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'TEMPI syndrome' SubClassOf 'clinical syndrome' + 'TEMPI syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'TEMPI syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'TEMPI syndrome' SubClassOf 'clinical syndrome' + 'TEMPI syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_319247 Label: Hantavirus pulmonary syndrome - 'Hantavirus pulmonary syndrome' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Hantavirus pulmonary syndrome' SubClassOf 'disease' + 'Hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Hantavirus pulmonary syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120908 Label: cullin 4B - 'cullin 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cabezas type' - 'cullin 4B' SubClassOf 'gene' + 'cullin 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cullin 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string + 'cullin 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cabezas type' Class: http://www.orpha.net/ORDO/Orphanet_77301 Label: Monosomy 9q22.3 - 'Monosomy 9q22.3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monosomy 9q22.3' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' - 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 9q22.3' SubClassOf 'malformation syndrome' - 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some 'sporadic' + 'Monosomy 9q22.3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 9q22.3' SubClassOf 'malformation syndrome' + 'Monosomy 9q22.3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_77300 Label: Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'malformation syndrome' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'malformation syndrome' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295016 Label: Camptodactyly of fingers - 'Camptodactyly of fingers' SubClassOf 'part_of' some 'Congenital deformities of fingers' - 'Camptodactyly of fingers' SubClassOf 'morphological anomaly' + 'Camptodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of fingers' + 'Camptodactyly of fingers' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_189439 Label: Primary pigmented nodular adrenocortical disease - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disease' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_295014 Label: Familial isolated clinodactyly of fingers - 'Familial isolated clinodactyly of fingers' SubClassOf 'morphological anomaly' - 'Familial isolated clinodactyly of fingers' SubClassOf 'part_of' some 'Congenital deformities of fingers' + 'Familial isolated clinodactyly of fingers' SubClassOf 'morphological anomaly' + 'Familial isolated clinodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of fingers' Class: http://www.orpha.net/ORDO/Orphanet_120903 Label: cubilin (intrinsic factor-cobalamin receptor) - 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' - 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'gene' + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_254925 Label: Combined oxidative phosphorylation defect type 4 - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2616 Label: 3M syndrome - '3M syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3M syndrome' SubClassOf 'malformation syndrome' - '3M syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - '3M syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - '3M syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - '3M syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3M syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '3M syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '3M syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '3M syndrome' SubClassOf 'malformation syndrome' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + '3M syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_77304 Label: Not NOTCH3-related small vessel disease of the brain - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307711 Label: Disease with diffuse palmoplantar keratoderma as a major feature - 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295012 Label: Syndactyly type 6 - 'Syndactyly type 6' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 6' SubClassOf 'morphological anomaly' + 'Syndactyly type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 6' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2617 Label: Bird headed-dwarfism, Montreal type - 'Bird headed-dwarfism, Montreal type' SubClassOf 'malformation syndrome' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Bird headed-dwarfism, Montreal type' SubClassOf 'malformation syndrome' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_77302 Label: Oculo-oto-facial dysplasia - 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculo-oto-facial dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculo-oto-facial dysplasia' SubClassOf 'malformation syndrome' - 'Oculo-oto-facial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculo-oto-facial dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculo-oto-facial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Oculo-oto-facial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculo-oto-facial dysplasia' SubClassOf 'malformation syndrome' + 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculo-oto-facial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculo-oto-facial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculo-oto-facial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295010 Label: Central polydactyly of toes - 'Central polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' - 'Central polydactyly of toes' SubClassOf 'morphological anomaly' + 'Central polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' + 'Central polydactyly of toes' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2619 Label: Brachydactylous dwarfism, Mseleni type - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'disease' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'disease' + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Brachydactylous dwarfism, Mseleni type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_85112 Label: Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2623 Label: Geleophysic dysplasia - 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Geleophysic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Geleophysic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Geleophysic dysplasia' SubClassOf 'malformation syndrome' - 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Geleophysic dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Geleophysic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Geleophysic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Geleophysic dysplasia' SubClassOf 'malformation syndrome' + 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Geleophysic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_254930 Label: Combined oxidative phosphorylation defect type 7 - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_85110 Label: Familial encephalopathy with neuroserpin inclusion bodies - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'disease' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'disease' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295008 Label: Postaxial polydactyly of toes - 'Postaxial polydactyly of toes' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' + 'Postaxial polydactyly of toes' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_141179 Label: Non-involuting congenital hemangioma - 'Non-involuting congenital hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-involuting congenital hemangioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Non-involuting congenital hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-involuting congenital hemangioma' SubClassOf 'disease' + 'Non-involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-involuting congenital hemangioma' SubClassOf 'disease' + 'Non-involuting congenital hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2621 Label: Low birth weight - dwarfism - dysgammaglobulinemia - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'malformation syndrome' + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284232 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2O - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_138706 Label: HtrA serine peptidase 1 - 'HtrA serine peptidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CARASIL' - 'HtrA serine peptidase 1' SubClassOf 'gene' + 'HtrA serine peptidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'HtrA serine peptidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CARASIL' + 'HtrA serine peptidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141174 Label: Mandibular arteriovenous malformation - 'Mandibular arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Mandibular arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Mandibular arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Mandibular arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_319244 Label: Chapare hemorrhagic fever - 'Chapare hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Chapare hemorrhagic fever' SubClassOf 'disease' + 'Chapare hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Chapare hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_264200 Label: 14q22q23 microdeletion syndrome - '14q22q23 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '14q22q23 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' + '14q22q23 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_284237 Label: dynein, cytoplasmic 1, heavy chain 1 - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'gene' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.31"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141171 Label: Maxillary arteriovenous malformation - 'Maxillary arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Maxillary arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Maxillary arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Maxillary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_138702 Label: retina and anterior neural fold homeobox 2 - 'retina and anterior neural fold homeobox 2' SubClassOf 'gene' - 'retina and anterior neural fold homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'retina and anterior neural fold homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'retina and anterior neural fold homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retina and anterior neural fold homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120910 Label: cullin 7 - 'cullin 7' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' - 'cullin 7' SubClassOf 'gene' + 'cullin 7' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' + 'cullin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cullin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_189466 Label: Familial isolated hypoparathyroidism due to impaired PTH secretion - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'part_of' some 'Familial isolated hypoparathyroidism' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'clinical subtype' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated hypoparathyroidism' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118218 Label: recombination activating gene 2 - 'recombination activating gene 2' SubClassOf 'gene' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' + 'recombination activating gene 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' + 'recombination activating gene 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120914 Label: chemokine (C-X-C motif) receptor 4 - 'chemokine (C-X-C motif) receptor 4' SubClassOf 'gene' - 'chemokine (C-X-C motif) receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'WHIM syndrome' + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'WHIM syndrome' + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319218 Label: Ebola hemorrhagic fever - 'Ebola hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Ebola hemorrhagic fever' SubClassOf 'disease' + 'Ebola hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Ebola hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118215 Label: recombination activating gene 1 - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' - 'recombination activating gene 1' SubClassOf 'gene' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' + 'recombination activating gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'recombination activating gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_273977 Label: ankyrin repeat domain 11 - 'ankyrin repeat domain 11' SubClassOf 'gene' - 'ankyrin repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'KBG syndrome' - 'ankyrin repeat domain 11' SubClassOf 'Role in the phenotype of' some '16q24.3 microdeletion syndrome' + 'ankyrin repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'KBG syndrome' + 'ankyrin repeat domain 11' SubClassOf 'Role in the phenotype of' some '16q24.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319213 Label: Lujo hemorrhagic fever - 'Lujo hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Lujo hemorrhagic fever' SubClassOf 'disease' + 'Lujo hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Lujo hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1067 Label: Aniridia - ptosis - intellectual disability - familial obesity - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'malformation syndrome' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'malformation syndrome' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123574 Label: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase - '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'gene' - '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblE' + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.31"^^http://www.w3.org/2001/XMLSchema#string + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblE' Class: http://www.orpha.net/ORDO/Orphanet_1065 Label: Aniridia - cerebellar ataxia - intellectual disability - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'malformation syndrome' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'malformation syndrome' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' Class: http://www.orpha.net/ORDO/Orphanet_141163 Label: Glossopalatine ankylosis - 'Glossopalatine ankylosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glossopalatine ankylosis' SubClassOf 'part_of' some 'Oromandibular-limb hypogenesis syndrome' - 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glossopalatine ankylosis' SubClassOf 'malformation syndrome' - 'Glossopalatine ankylosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Glossopalatine ankylosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glossopalatine ankylosis' SubClassOf 'malformation syndrome' + 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glossopalatine ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oromandibular-limb hypogenesis syndrome' + 'Glossopalatine ankylosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123572 Label: 5-methyltetrahydrofolate-homocysteine methyltransferase - '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblG' - '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'gene' + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblG' + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1064 Label: Aniridia - renal agenesis - psychomotor retardation - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1063 Label: Tufted angioma - 'Tufted angioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Tufted angioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Tufted angioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tufted angioma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Tufted angioma' SubClassOf 'disease' - 'Tufted angioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Tufted angioma' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Tufted angioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tufted angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tufted angioma' SubClassOf 'disease' + 'Tufted angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_85184 Label: Craniometadiaphyseal dysplasia, wormian bone type - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'malformation syndrome' - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'malformation syndrome' + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_1062 Label: Hereditary neurocutaneous angioma - 'Hereditary neurocutaneous angioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Hereditary neurocutaneous angioma' SubClassOf 'disease' - 'Hereditary neurocutaneous angioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary neurocutaneous angioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Cerebral diseases of vascular origin with epilepsy' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Genetic neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral diseases of vascular origin with epilepsy' + 'Hereditary neurocutaneous angioma' SubClassOf 'disease' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary neurocutaneous angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85182 Label: Diaphyseal medullary stenosis - bone malignancy - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Rare bone tumor' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'disease' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141168 Label: Frontonasal arteriovenous malformation - 'Frontonasal arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Frontonasal arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Frontonasal arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Frontonasal arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2632 Label: Langer mesomelic dysplasia - 'Langer mesomelic dysplasia' SubClassOf 'malformation syndrome' - 'Langer mesomelic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Langer mesomelic dysplasia' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Langer mesomelic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Langer mesomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Langer mesomelic dysplasia' SubClassOf 'malformation syndrome' + 'Langer mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Langer mesomelic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85188 Label: Metaphyseal dysplasia, Braun-Tinschert type - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'malformation syndrome' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_prevalence' some 'Unknown' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'malformation syndrome' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2633 Label: Mesomelic dwarfism, Nievergelt type - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'malformation syndrome' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85186 Label: Endosteal sclerosis - cerebellar hypoplasia - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'malformation syndrome' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'malformation syndrome' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_2631 Label: Mesomelic dwarfism - cleft palate - camptodactyly - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2636 Label: Microcephalic osteodysplastic primordial dwarfism types I and III - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'malformation syndrome' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'malformation syndrome' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_138732 Label: X-linked inhibitor of apoptosis - 'X-linked inhibitor of apoptosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' - 'X-linked inhibitor of apoptosis' SubClassOf 'gene' + 'X-linked inhibitor of apoptosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-linked inhibitor of apoptosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' + 'X-linked inhibitor of apoptosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2637 Label: Microcephalic osteodysplastic primordial dwarfism type II - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'malformation syndrome' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'part_of' some 'Syndromic obesity' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_prevalence' some 'Unknown' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'malformation syndrome' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_1069 Label: Aniridia - absent patella - 'Aniridia - absent patella' SubClassOf 'malformation syndrome' - 'Aniridia - absent patella' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia - absent patella' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - absent patella' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia - absent patella' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia - absent patella' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - absent patella' SubClassOf 'malformation syndrome' + 'Aniridia - absent patella' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - absent patella' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia - absent patella' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2634 Label: Mesomelic dwarfism, Reinhardt-Pfeiffer type - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_prevalence' some 'Unknown' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'malformation syndrome' + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_123576 Label: microsomal triglyceride transfer protein - 'microsomal triglyceride transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abetalipoproteinemia' - 'microsomal triglyceride transfer protein' SubClassOf 'gene' + 'microsomal triglyceride transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'microsomal triglyceride transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abetalipoproteinemia' + 'microsomal triglyceride transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1068 Label: Aniridia-intellectual disability syndrome - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2635 Label: Metatropic dysplasia - 'Metatropic dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Metatropic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metatropic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metatropic dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Metatropic dysplasia' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Metatropic dysplasia' SubClassOf 'disease' - 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Metatropic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Metatropic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Metatropic dysplasia' SubClassOf 'disease' + 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Metatropic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2639 Label: Fibular aplasia - complex brachydactyly - 'Fibular aplasia - complex brachydactyly' SubClassOf 'malformation syndrome' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Fibular aplasia - complex brachydactyly' SubClassOf 'malformation syndrome' + 'Fibular aplasia - complex brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_118208 Label: RAD51 recombinase - 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'RAD51 recombinase' SubClassOf 'gene' - 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' + 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 recombinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAD51 recombinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' Class: http://www.orpha.net/ORDO/Orphanet_118205 Label: RAB7A, member RAS oncogene family - 'RAB7A, member RAS oncogene family' SubClassOf 'gene' - 'RAB7A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' + 'RAB7A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB7A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'RAB7A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' Class: http://www.orpha.net/ORDO/Orphanet_138719 Label: cytochrome b-245, alpha polypeptide - 'cytochrome b-245, alpha polypeptide' SubClassOf 'gene' - 'cytochrome b-245, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome b-245, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319229 Label: Bolivian hemorrhagic fever - 'Bolivian hemorrhagic fever' SubClassOf 'disease' - 'Bolivian hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Bolivian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Bolivian hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120929 Label: cytochrome b5 type A (microsomal) - 'cytochrome b5 type A (microsomal)' SubClassOf 'gene' - 'cytochrome b5 type A (microsomal)' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'cytochrome b5 type A (microsomal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b5 type A (microsomal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q23"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome b5 type A (microsomal)' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1070 Label: Anisakiasis - 'Anisakiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anisakiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Anisakiasis' SubClassOf 'disease' + 'Anisakiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Anisakiasis' SubClassOf 'disease' + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Anisakiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Anisakiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 Class: http://www.orpha.net/ORDO/Orphanet_118200 Label: RAB3 GTPase activating protein subunit 2 (non-catalytic) - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'gene' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 69' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 69' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41"^^http://www.w3.org/2001/XMLSchema#string + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138722 Label: Raf-1 proto-oncogene, serine/threonine kinase - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'gene' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Noonan syndrome' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_319223 Label: Argentine hemorrhagic fever - 'Argentine hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Argentine hemorrhagic fever' SubClassOf 'disease' + 'Argentine hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Argentine hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141152 Label: Isolated congenital hypoglossia/aglossia - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'part_of' some 'Hypoglossia/aglossia' - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'morphological anomaly' + 'Isolated congenital hypoglossia/aglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoglossia/aglossia' + 'Isolated congenital hypoglossia/aglossia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123583 Label: methylmalonyl CoA mutase - 'methylmalonyl CoA mutase' SubClassOf 'gene' - 'methylmalonyl CoA mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' - 'methylmalonyl CoA mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' Class: http://www.orpha.net/ORDO/Orphanet_1078 Label: Thumb stiffness - brachydactyly - intellectual disability - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'malformation syndrome' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'malformation syndrome' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123585 Label: mutY homolog - 'mutY homolog' SubClassOf 'gene' - 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'MUTYH-related attenuated familial adenomatous polyposis' - 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'mutY homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'MUTYH-related attenuated familial adenomatous polyposis' + 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'mutY homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1077 Label: Dental ankylosis - 'Dental ankylosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dental ankylosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Dental ankylosis' SubClassOf 'malformation syndrome' - 'Dental ankylosis' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Dental ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dental ankylosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85170 Label: Mesomelic dysplasia, Savarirayan type - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_inheritance' some 'sporadic' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_prevalence' some 'Unknown' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'malformation syndrome' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'malformation syndrome' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1072 Label: Ankyloblepharon filiforme adnatum - cleft palate - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'malformation syndrome' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1071 Label: Ankyloblepharon - ectodermal defects - cleft lip/palate - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85172 Label: Microcephalic osteodysplastic dysplasia, Saul-Wilson type - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'disease' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'disease' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_1074 Label: Ankyloblepharon filiforme - imperforate anus - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_85173 Label: IMAGe syndrome - 'IMAGe syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'IMAGe syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'IMAGe syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'IMAGe syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'IMAGe syndrome' SubClassOf 'malformation syndrome' - 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'IMAGe syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'IMAGe syndrome' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'IMAGe syndrome' SubClassOf 'malformation syndrome' + 'IMAGe syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'IMAGe syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'IMAGe syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85174 Label: Pseudodiastrophic dysplasia - 'Pseudodiastrophic dysplasia' SubClassOf 'malformation syndrome' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudodiastrophic dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Pseudodiastrophic dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Pseudodiastrophic dysplasia' SubClassOf 'malformation syndrome' + 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Pseudodiastrophic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pseudodiastrophic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2641 Label: Micromelic dwarfism, Fryns type - 'Micromelic dwarfism, Fryns type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Micromelic dwarfism, Fryns type' SubClassOf 'disease' + 'Micromelic dwarfism, Fryns type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Micromelic dwarfism, Fryns type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85175 Label: Astley-Kendall dysplasia - 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Astley-Kendall dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Astley-Kendall dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Astley-Kendall dysplasia' SubClassOf 'malformation syndrome' - 'Astley-Kendall dysplasia' SubClassOf 'part_of' some 'Chondrodysplasia punctata' + 'Astley-Kendall dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Astley-Kendall dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Astley-Kendall dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Astley-Kendall dysplasia' SubClassOf 'malformation syndrome' + 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2643 Label: Microcephalic primordial dwarfism, Toriello type - 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_2645 Label: Osteoglophonic dwarfism - 'Osteoglophonic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteoglophonic dwarfism' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Osteoglophonic dwarfism' SubClassOf 'malformation syndrome' + 'Osteoglophonic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteoglophonic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Osteoglophonic dwarfism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85179 Label: Infantile osteopetrosis with neuroaxonal dysplasia - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'malformation syndrome' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'part_of' some 'Osteopetrosis' + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'malformation syndrome' + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_2646 Label: Parastremmatic dwarfism - 'Parastremmatic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Parastremmatic dwarfism' SubClassOf 'malformation syndrome' - 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parastremmatic dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'TRPV4-related bone disorder' + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Parastremmatic dwarfism' SubClassOf 'malformation syndrome' + 'Parastremmatic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Parastremmatic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123588 Label: mevalonate kinase - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Disseminated superficial actinic porokeratosis' - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mevalonic aciduria' - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperimmunoglobulinemia D with periodic fever' - 'mevalonate kinase' SubClassOf 'gene' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Disseminated superficial actinic porokeratosis' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mevalonic aciduria' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperimmunoglobulinemia D with periodic fever' + 'mevalonate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24"^^http://www.w3.org/2001/XMLSchema#string + 'mevalonate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120932 Label: cytochrome b5 reductase 3 - 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 2' - 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 1' - 'cytochrome b5 reductase 3' SubClassOf 'gene' + 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 2' + 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 1' + 'cytochrome b5 reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b5 reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120935 Label: cytochrome b-245, beta polypeptide - 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' - 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' - 'cytochrome b-245, beta polypeptide' SubClassOf 'gene' + 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' + 'cytochrome b-245, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b-245, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2649 Label: Short stature - intellectual disability - eye anomalies - cleft lip/palate - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'malformation syndrome' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314017 Label: Idiopathic linear interstitial keratitis - 'Idiopathic linear interstitial keratitis' SubClassOf 'disease' - 'Idiopathic linear interstitial keratitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic linear interstitial keratitis' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Idiopathic linear interstitial keratitis' SubClassOf 'disease' + 'Idiopathic linear interstitial keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Idiopathic linear interstitial keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1081 Label: Coronary artery congenital malformation - 'Coronary artery congenital malformation' SubClassOf 'group of disorders' + 'Coronary artery congenital malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118239 Label: retinoblastoma 1 - 'retinoblastoma 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Unilateral retinoblastoma' - 'retinoblastoma 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 13q14' - 'retinoblastoma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinoblastoma' - 'retinoblastoma 1' SubClassOf 'gene' + 'retinoblastoma 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Unilateral retinoblastoma' + 'retinoblastoma 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 13q14' + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial retinoblastoma' Class: http://www.orpha.net/ORDO/Orphanet_2650 Label: Dwarfism - intellectual disability - eye abnormality - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'malformation syndrome' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'malformation syndrome' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85162 Label: Facial onset sensory and motor neuronopathy - 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1084 Label: Isolated lissencephaly type 1 without known genetic defects - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'disease' + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1083 Label: Microlissencephaly - 'Microlissencephaly' SubClassOf 'group of disorders' - 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microlissencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Microlissencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microlissencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microlissencephaly' SubClassOf 'group of disorders' + 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_49382 Label: Achromatopsia - 'Achromatopsia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Achromatopsia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achromatopsia' SubClassOf 'part_of' some 'Color-vision disease' - 'Achromatopsia' SubClassOf 'part_of' some 'Syndromic myopia' - 'Achromatopsia' SubClassOf 'disease' + 'Achromatopsia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Color-vision disease' + 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Achromatopsia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achromatopsia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123552 Label: mitochondrially encoded NADH dehydrogenase 4 - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' Class: http://www.orpha.net/ORDO/Orphanet_1088 Label: Short stature-heart defect-craniofacial anomalies syndrome - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'malformation syndrome' - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118231 Label: RAS p21 protein activator (GTPase activating protein) 1 - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'gene' - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Capillary malformation - arteriovenous malformation' - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkes Weber syndrome' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Capillary malformation - arteriovenous malformation' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkes Weber syndrome' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85169 Label: Familial digital arthropathy-brachydactyly - 'Familial digital arthropathy-brachydactyly' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'malformation syndrome' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120940 Label: cylindromatosis (turban tumor syndrome) - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cylindromatosis' - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'gene' - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple trichoepithelioma' + 'cylindromatosis (turban tumor syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cylindromatosis (turban tumor syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cylindromatosis' + 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple trichoepithelioma' Class: http://www.orpha.net/ORDO/Orphanet_2658 Label: Lenz-Majewski hyperostotic dwarfism - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'malformation syndrome' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'malformation syndrome' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85167 Label: Spondylometaphyseal dysplasia - cone-rod dystrophy - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_85168 Label: Craniofacial conodysplasia - 'Craniofacial conodysplasia' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Craniofacial conodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniofacial conodysplasia' SubClassOf 'malformation syndrome' - 'Craniofacial conodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial conodysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Craniofacial conodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Craniofacial conodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial conodysplasia' SubClassOf 'malformation syndrome' + 'Craniofacial conodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_141145 Label: Hemifacial hypertrophy - 'Hemifacial hypertrophy' SubClassOf 'malformation syndrome' - 'Hemifacial hypertrophy' SubClassOf 'part_of' some 'Macroglossia' + 'Hemifacial hypertrophy' SubClassOf 'malformation syndrome' + 'Hemifacial hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_85165 Label: Severe achondroplasia - developmental delay - acanthosis nigricans - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'disease' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'disease' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85166 Label: Platyspondylic dysplasia, Torrance type - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'malformation syndrome' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_prevalence' some 'Unknown' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'malformation syndrome' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2655 Label: Thanatophoric dysplasia - 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Thanatophoric dysplasia' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Thanatophoric dysplasia' SubClassOf 'disease' - 'Thanatophoric dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thanatophoric dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' + 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thanatophoric dysplasia' SubClassOf 'disease' + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85163 Label: Hypomyelination - congenital cataract - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Syndromic cataract' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hypomyelination - congenital cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypomyelination - congenital cataract' SubClassOf 'malformation syndrome' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypomyelination - congenital cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Hypomyelination - congenital cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypomyelination - congenital cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypomyelination - congenital cataract' SubClassOf 'malformation syndrome' + 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_141148 Label: Hemifacial myohyperplasia - 'Hemifacial myohyperplasia' SubClassOf 'malformation syndrome' - 'Hemifacial myohyperplasia' SubClassOf 'part_of' some 'Macroglossia' + 'Hemifacial myohyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Hemifacial myohyperplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123557 Label: mitochondrially encoded NADH dehydrogenase 4L - 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85164 Label: Camptodactyly - tall stature - scoliosis - hearing loss - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'disease' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2653 Label: Osteochondrodysplatic nanism - deafness - retinitis pigmentosa - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'malformation syndrome' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'malformation syndrome' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120949 Label: cytochrome P450, family 11, subfamily B, polypeptide 1 - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120945 Label: cytochrome P450, family 11, subfamily A, polypeptide 1 - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_270336 Label: PR domain containing 5 - 'PR domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' - 'PR domain containing 5' SubClassOf 'gene' + 'PR domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PR domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' + 'PR domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25-q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319205 Label: Bilateral massive adrenal hemorrhage - 'Bilateral massive adrenal hemorrhage' SubClassOf 'part_of' some 'Acute adrenal insufficiency' - 'Bilateral massive adrenal hemorrhage' SubClassOf 'etiological subtype' + 'Bilateral massive adrenal hemorrhage' SubClassOf 'etiological subtype' + 'Bilateral massive adrenal hemorrhage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_118222 Label: receptor-associated protein of the synapse - 'receptor-associated protein of the synapse' SubClassOf 'gene' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fetal akinesia deformation sequence' + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118227 Label: retinoic acid receptor, alpha - 'retinoic acid receptor, alpha' SubClassOf 'gene' - 'retinoic acid receptor, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'retinoic acid receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoic acid receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinoic acid receptor, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_314002 Label: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'malformation syndrome' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'malformation syndrome' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1092 Label: Renal-genital-middle ear anomalies - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal-genital-middle ear anomalies' SubClassOf 'malformation syndrome' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal-genital-middle ear anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1094 Label: Anonychia - microcephaly - 'Anonychia - microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anonychia - microcephaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anonychia - microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anonychia - microcephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anonychia - microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anonychia - microcephaly' SubClassOf 'malformation syndrome' + 'Anonychia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anonychia - microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anonychia - microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anonychia - microcephaly' SubClassOf 'malformation syndrome' + 'Anonychia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anonychia - microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217720 Label: Non-familial restrictive cardiomyopathy - 'Non-familial restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2662 Label: Keipert syndrome - 'Keipert syndrome' SubClassOf 'malformation syndrome' - 'Keipert syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Keipert syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Keipert syndrome' SubClassOf 'malformation syndrome' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_118220 Label: retinoic acid induced 1 - 'retinoic acid induced 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Magenis syndrome' - 'retinoic acid induced 1' SubClassOf 'gene' - 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some 'Smith-Magenis syndrome' - 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some '17p11.2 microduplication syndrome' + 'retinoic acid induced 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Magenis syndrome' + 'retinoic acid induced 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoic acid induced 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some 'Smith-Magenis syndrome' + 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some '17p11.2 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123562 Label: mitochondrially encoded NADH dehydrogenase 5 - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2668 Label: Nephropathy-deafness-hyperparathyroidism syndrome - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'malformation syndrome' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'malformation syndrome' + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_138742 Label: RNA component of mitochondrial RNA processing endoribonuclease - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cartilage-hair hypoplasia' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'gene' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cartilage-hair hypoplasia' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21-p12"^^http://www.w3.org/2001/XMLSchema#string + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2669 Label: Nephrosis - deafness - urinary tract - digital malformations - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'malformation syndrome' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'malformation syndrome' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_141132 Label: Oculo-auriculo-vertebral spectrum - 'Oculo-auriculo-vertebral spectrum' SubClassOf 'group of disorders' + 'Oculo-auriculo-vertebral spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123567 Label: mitochondrially encoded NADH dehydrogenase 6 - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2663 Label: Nathalie syndrome - 'Nathalie syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Nathalie syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Nathalie syndrome' SubClassOf 'malformation syndrome' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Nathalie syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141136 Label: Hemifacial microsomia - 'Hemifacial microsomia' SubClassOf 'malformation syndrome' - 'Hemifacial microsomia' SubClassOf 'part_of' some 'Oculo-auriculo-vertebral spectrum' + 'Hemifacial microsomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculo-auriculo-vertebral spectrum' + 'Hemifacial microsomia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2666 Label: Adult familial nephronophthisis - spastic quadriparesia - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'disease' + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2674 Label: Cyprus facial-neuromusculoskeletal syndrome - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'malformation syndrome' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'malformation syndrome' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_84096 Label: Unknown leukodystrophy - 'Unknown leukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'Unknown leukodystrophy' SubClassOf 'disease' + 'Unknown leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Unknown leukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2677 Label: Neuroepithelioma - 'Neuroepithelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuroepithelioma' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' - 'Neuroepithelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuroepithelioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neuroepithelioma' SubClassOf 'disease' + 'Neuroepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuroepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal tumor of the neuroepithelial tissue' + 'Neuroepithelioma' SubClassOf 'disease' + 'Neuroepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123537 Label: mitochondrially encoded NADH dehydrogenase 1 - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'gene' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2676 Label: Neuroectodermal-endocrine syndrome - 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'malformation syndrome' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Neuroectodermal-endocrine syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neuroectodermal-endocrine syndrome' SubClassOf 'malformation syndrome' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_120963 Label: cytochrome P450, family 17, subfamily A, polypeptide 1 - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2679 Label: Infantile axonal neuropathy - 'Infantile axonal neuropathy' SubClassOf 'disease' - 'Infantile axonal neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Infantile axonal neuropathy' SubClassOf 'disease' + 'Infantile axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_123531 Label: myotubularin 1 - 'myotubularin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked centronuclear myopathy' - 'myotubularin 1' SubClassOf 'gene' + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked centronuclear myopathy' + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.3-q28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2678 Label: Neurofibromatosis type 6 - 'Neurofibromatosis type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurofibromatosis type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neurofibromatosis type 6' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neurofibromatosis type 6' SubClassOf 'malformation syndrome' - 'Neurofibromatosis type 6' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurofibromatosis type 6' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurofibromatosis type 6' SubClassOf 'malformation syndrome' + 'Neurofibromatosis type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123533 Label: myotubularin related protein 2 - 'myotubularin related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B1' - 'myotubularin related protein 2' SubClassOf 'gene' + 'myotubularin related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B1' + 'myotubularin related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myotubularin related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_84090 Label: Fibronectin glomerulopathy - 'Fibronectin glomerulopathy' SubClassOf 'disease' - 'Fibronectin glomerulopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fibronectin glomerulopathy' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Fibronectin glomerulopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibronectin glomerulopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Fibronectin glomerulopathy' SubClassOf 'disease' + 'Fibronectin glomerulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fibronectin glomerulopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fibronectin glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Fibronectin glomerulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_140074 Label: ring finger protein 135 - 'ring finger protein 135' SubClassOf 'gene' - 'ring finger protein 135' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overgrowth - macrocephaly - facial dysmorphism' + 'ring finger protein 135' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ring finger protein 135' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overgrowth - macrocephaly - facial dysmorphism' + 'ring finger protein 135' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2671 Label: Neu-Laxova syndrome - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Neu-Laxova syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neu-Laxova syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neu-Laxova syndrome' SubClassOf 'malformation syndrome' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neu-Laxova syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neu-Laxova syndrome' SubClassOf 'malformation syndrome' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Neu-Laxova syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2670 Label: Pierson syndrome - 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pierson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pierson syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Pierson syndrome' SubClassOf 'malformation syndrome' - 'Pierson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pierson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pierson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pierson syndrome' SubClassOf 'malformation syndrome' + 'Pierson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2673 Label: Neurofaciodigitorenal syndrome - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neurofaciodigitorenal syndrome' SubClassOf 'malformation syndrome' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neurofaciodigitorenal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93420 Label: FGFR3-related chondrodysplasia - 'FGFR3-related chondrodysplasia' SubClassOf 'group of disorders' + 'FGFR3-related chondrodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'FGFR3-related chondrodysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_84093 Label: Hereditary thermosensitive neuropathy - 'Hereditary thermosensitive neuropathy' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' - 'Hereditary thermosensitive neuropathy' SubClassOf 'disease' + 'Hereditary thermosensitive neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Hereditary thermosensitive neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262968 Label: Partial duplication of the long arm of chromosome 17 - 'Partial duplication of the long arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_176228 Label: isocitrate dehydrogenase 3 (NAD+) beta - 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'gene' - 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_93419 Label: Rare bone disease - 'Rare bone disease' SubClassOf 'group of disorders' + 'Rare bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120955 Label: cytochrome P450, family 11, subfamily B, polypeptide 2 - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperreninemic hypoaldosteronism type 1' - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperreninemic hypoaldosteronism type 1' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_213531 Label: Metaplastic carcinoma of the breast - 'Metaplastic carcinoma of the breast' SubClassOf 'disease' - 'Metaplastic carcinoma of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' + 'Metaplastic carcinoma of the breast' SubClassOf 'disease' + 'Metaplastic carcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_123529 Label: methylenetetrahydrofolate reductase (NAD(P)H) - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Methotrexate poisoning' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'gene' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Methotrexate poisoning' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3"^^http://www.w3.org/2001/XMLSchema#string + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_84085 Label: Hinman syndrome - 'Hinman syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hinman syndrome' SubClassOf 'disease' - 'Hinman syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hinman syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Hinman syndrome' SubClassOf 'disease' + 'Hinman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Hinman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2688 Label: Adult idiopathic neutropenia - 'Adult idiopathic neutropenia' SubClassOf 'disease' - 'Adult idiopathic neutropenia' SubClassOf 'part_of' some 'Acquired neutropenia' + 'Adult idiopathic neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neutropenia' + 'Adult idiopathic neutropenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_84087 Label: Collagen type III glomerulopathy - 'Collagen type III glomerulopathy' SubClassOf 'disease' - 'Collagen type III glomerulopathy' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Collagen type III glomerulopathy' SubClassOf 'disease' + 'Collagen type III glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_123547 Label: mitochondrially encoded NADH dehydrogenase 3 - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2686 Label: Cyclic neutropenia - 'Cyclic neutropenia' SubClassOf 'disease' - 'Cyclic neutropenia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cyclic neutropenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cyclic neutropenia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cyclic neutropenia' SubClassOf 'part_of' some 'Constitutional neutropenia' + 'Cyclic neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cyclic neutropenia' SubClassOf 'disease' + 'Cyclic neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cyclic neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cyclic neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_140069 Label: mitochondrial ribosomal protein S22 - 'mitochondrial ribosomal protein S22' SubClassOf 'gene' - 'mitochondrial ribosomal protein S22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia with lactic acidemia and hyperammonemia' + 'mitochondrial ribosomal protein S22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia with lactic acidemia and hyperammonemia' + 'mitochondrial ribosomal protein S22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial ribosomal protein S22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140067 Label: dynactin 1 - 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perry syndrome' - 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' - 'dynactin 1' SubClassOf 'gene' - 'dynactin 1' SubClassOf 'Candidate gene tested in' some 'Amyotrophic lateral sclerosis' + 'dynactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perry syndrome' + 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' + 'dynactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'dynactin 1' SubClassOf 'Candidate gene tested in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_160337 Label: solute carrier family 26 (anion exchanger), member 5 - 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'gene' - 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_123542 Label: mitochondrially encoded NADH dehydrogenase 2 - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'gene' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2680 Label: Hypomyelination neuropathy - arthrogryposis - 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'malformation syndrome' + 'Hypomyelination neuropathy - arthrogryposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84081 Label: Senior-Boichis syndrome - 'Senior-Boichis syndrome' SubClassOf 'disease' - 'Senior-Boichis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Senior-Boichis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Senior-Boichis syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' + 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Senior-Boichis syndrome' SubClassOf 'disease' + 'Senior-Boichis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_93402 Label: Syndactyly type 1 - 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 1' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 1' SubClassOf 'morphological anomaly' - 'Syndactyly type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 1' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Syndactyly type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 1' SubClassOf 'morphological anomaly' + 'Syndactyly type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Syndactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_213528 Label: Rare adenocarcinoma of the breast - 'Rare adenocarcinoma of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Rare adenocarcinoma of the breast' SubClassOf 'disease' + 'Rare adenocarcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Rare adenocarcinoma of the breast' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93400 Label: Congenital sialidosis type 2 - 'Congenital sialidosis type 2' SubClassOf 'part_of' some 'Sialidosis type 2' - 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' + 'Congenital sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis type 2' + 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93406 Label: Syndactyly type 5 - 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 5' SubClassOf 'morphological anomaly' - 'Syndactyly type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly type 5' SubClassOf 'part_of' some 'Syndactyly' + 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 5' SubClassOf 'morphological anomaly' + 'Syndactyly type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_56970 Label: Transmissible spongiform encephalopathy - 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Transmissible spongiform encephalopathy' SubClassOf 'group of disorders' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Transmissible spongiform encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Transmissible spongiform encephalopathy' SubClassOf 'group of disorders' + 'Transmissible spongiform encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Transmissible spongiform encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_213524 Label: Hereditary site-specific ovarian cancer syndrome - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disease' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Familial ovarian cancer' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disease' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial ovarian cancer' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93405 Label: Syndactyly type 4 - 'Syndactyly type 4' SubClassOf 'morphological anomaly' - 'Syndactyly type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 4' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Syndactyly type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 4' SubClassOf 'morphological anomaly' + 'Syndactyly type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262977 Label: Partial trisomy of the long arm of chromosome 18 - 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93404 Label: Syndactyly type 3 - 'Syndactyly type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 3' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 3' SubClassOf 'morphological anomaly' + 'Syndactyly type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 3' SubClassOf 'morphological anomaly' + 'Syndactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_93403 Label: Syndactyly type 2 - 'Syndactyly type 2' SubClassOf 'morphological anomaly' - 'Syndactyly type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Syndactyly type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 2' SubClassOf 'part_of' some 'Syndactyly' + 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 2' SubClassOf 'morphological anomaly' + 'Syndactyly type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_41751 Label: Bietti crystalline dystrophy - 'Bietti crystalline dystrophy' SubClassOf 'disease' - 'Bietti crystalline dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bietti crystalline dystrophy' SubClassOf 'part_of' some 'Familial flecked retinopathy' + 'Bietti crystalline dystrophy' SubClassOf 'disease' + 'Bietti crystalline dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' + 'Bietti crystalline dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93409 Label: Brachydactyly-syndactyly, Zhao type - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'malformation syndrome' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly-syndactyly, Zhao type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'malformation syndrome' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_51188 Label: Ethylmalonic encephalopathy - 'Ethylmalonic encephalopathy' SubClassOf 'disease' - 'Ethylmalonic encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ethylmalonic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ethylmalonic encephalopathy' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder' + 'Ethylmalonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unspecified mitochondrial disorder' + 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ethylmalonic encephalopathy' SubClassOf 'disease' + 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ethylmalonic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ethylmalonic encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120969 Label: cytochrome P450, family 19, subfamily A, polypeptide 1 - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase excess syndrome' - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase deficiency' + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase excess syndrome' + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Aromatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_216796 Label: Osteogenesis imperfecta type 1 - 'Osteogenesis imperfecta type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 1' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 1' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Osteogenesis imperfecta type 1' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteogenesis imperfecta type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_140053 Label: aarF domain containing kinase 3 - 'aarF domain containing kinase 3' SubClassOf 'gene' - 'aarF domain containing kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to ubiquinone deficiency' + 'aarF domain containing kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.11"^^http://www.w3.org/2001/XMLSchema#string + 'aarF domain containing kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aarF domain containing kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to ubiquinone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_37553 Label: Cardiodysrhythmic potassium-sensitive periodic paralysis - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Periodic paralysis' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'disease' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'disease' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_123512 Label: mitochondrially encoded cytochrome c oxidase I - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Candidate gene tested in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Candidate gene tested in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2697 Label: Arthrogryposis - renal dysfunction - cholestasis - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120981 Label: cytochrome P450, family 21, subfamily A, polypeptide 2 - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140058 Label: solute carrier family 16, member 12 - 'solute carrier family 16, member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile cataract - microcornea - renal glucosuria' - 'solute carrier family 16, member 12' SubClassOf 'gene' + 'solute carrier family 16, member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile cataract - microcornea - renal glucosuria' + 'solute carrier family 16, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 16, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2699 Label: Median nodule of the upper lip - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Median nodule of the upper lip' SubClassOf 'malformation syndrome' - 'Median nodule of the upper lip' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Median nodule of the upper lip' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Median nodule of the upper lip' SubClassOf 'malformation syndrome' + 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Median nodule of the upper lip' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123516 Label: mitochondrially encoded cytochrome c oxidase II - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2698 Label: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_160327 Label: PITPNM family member 3 - 'PITPNM family member 3' SubClassOf 'gene' - 'PITPNM family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'PITPNM family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PITPNM family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'PITPNM family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_37559 Label: Acquired kinky hair syndrome - 'Acquired kinky hair syndrome' SubClassOf 'disease' - 'Acquired kinky hair syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Acquired kinky hair syndrome' SubClassOf 'disease' + 'Acquired kinky hair syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_93440 Label: Slender bone dysplasia - 'Slender bone dysplasia' SubClassOf 'group of disorders' + 'Slender bone dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93441 Label: Primary bone dysplasia with multiple joint dislocations - 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'group of disorders' + 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2695 Label: Bifid nose - 'Bifid nose' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bifid nose' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bifid nose' SubClassOf 'has_prevalence' some 'Unknown' - 'Bifid nose' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bifid nose' SubClassOf 'malformation syndrome' - 'Bifid nose' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Bifid nose' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Bifid nose' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bifid nose' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bifid nose' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bifid nose' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_325093 Label: 46,XX disorder of sex development induced by endogenous maternal-derived androgen - '46,XX disorder of sex development induced by endogenous maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by endogenous maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93442 Label: Chondrodysplasia punctata - 'Chondrodysplasia punctata' SubClassOf 'group of disorders' + 'Chondrodysplasia punctata' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140050 Label: TERF1 (TRF1)-interacting nuclear factor 2 - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinopathy - anemia- central nervous system anomalies' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'gene' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinopathy - anemia- central nervous system anomalies' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262995 Label: Partial trisomy of the long arm of chromosome 20 - 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2690 Label: Neutropenia - monocytopenia - deafness - 'Neutropenia - monocytopenia - deafness' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Neutropenia - monocytopenia - deafness' SubClassOf 'disease' - 'Neutropenia - monocytopenia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Neutropenia - monocytopenia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Neutropenia - monocytopenia - deafness' SubClassOf 'disease' + 'Neutropenia - monocytopenia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93437 Label: Acromesomelic dysplasia - 'Acromesomelic dysplasia' SubClassOf 'group of disorders' + 'Acromesomelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325099 Label: 46,XX disorder of sex development induced by exogenous maternal-derived androgen - '46,XX disorder of sex development induced by exogenous maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by exogenous maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93436 Label: Acromelic dysplasia - 'Acromelic dysplasia' SubClassOf 'group of disorders' + 'Acromelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213512 Label: Malignant mixed epithelial mesenchymal tumor of the ovary - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'disease' - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'disease' + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_262986 Label: Partial duplication of the long arm of chromosome 19 - 'Partial duplication of the long arm of chromosome 19' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93439 Label: Bent bone dysplasia - 'Bent bone dysplasia' SubClassOf 'group of disorders' + 'Bent bone dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93438 Label: Mesomelic and rhizo-mesomelic dysplasia - 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'group of disorders' + 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213517 Label: Familial ovarian cancer - 'Familial ovarian cancer' SubClassOf 'group of disorders' + 'Familial ovarian cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220393 Label: Diffuse cutaneous systemic sclerosis - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'clinical subtype' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'clinical subtype' + 'Diffuse cutaneous systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Diffuse cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Diffuse cutaneous systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93434 Label: Spondylodysplastic dysplasia - 'Spondylodysplastic dysplasia' SubClassOf 'group of disorders' + 'Spondylodysplastic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123508 Label: mitochondrially encoded ATP synthase 6 - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited spastic paraplegia' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'NARP syndrome' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'gene' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited spastic paraplegia' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'NARP syndrome' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_160333 Label: pyridoxamine 5'-phosphate oxidase - 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxal phosphate-responsive seizures' - 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'gene' + 'pyridoxamine 5'-phosphate oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxal phosphate-responsive seizures' + 'pyridoxamine 5'-phosphate oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120977 Label: cytochrome P450, family 1, subfamily B, polypeptide 1 - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile glaucoma' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p22.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile glaucoma' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' Class: http://www.orpha.net/ORDO/Orphanet_160331 Label: phospholamban - 'phospholamban' SubClassOf 'gene' - 'phospholamban' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'phospholamban' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholamban' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'phospholamban' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160313 Label: myosin IIIA - 'myosin IIIA' SubClassOf 'gene' - 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140044 Label: four and a half LIM domains 1 - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reducing body myopathy' - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with postural muscle atrophy' - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' - 'four and a half LIM domains 1' SubClassOf 'gene' + 'four and a half LIM domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.3"^^http://www.w3.org/2001/XMLSchema#string + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reducing body myopathy' + 'four and a half LIM domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with postural muscle atrophy' + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120994 Label: cytochrome P450, family 27, subfamily B, polypeptide 1 - 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' Class: http://www.orpha.net/ORDO/Orphanet_123520 Label: mitochondrially encoded cytochrome c oxidase III - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85199 Label: Craniosynostosis - anal anomalies - porokeratosis - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'malformation syndrome' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'malformation syndrome' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85198 Label: Dysspondyloenchondromatosis - 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dysspondyloenchondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dysspondyloenchondromatosis' SubClassOf 'malformation syndrome' - 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Dysspondyloenchondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Dysspondyloenchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dysspondyloenchondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dysspondyloenchondromatosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84064 Label: Syndromic diarrhea - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Syndromic diarrhea' SubClassOf 'disease' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Syndromic diarrhea' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndromic diarrhea' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Syndromic diarrhea' SubClassOf 'disease' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Syndromic diarrhea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syndromic diarrhea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic diarrhea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_85197 Label: Genochondromatosis type 1 - 'Genochondromatosis type 1' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Genochondromatosis type 1' SubClassOf 'disease' - 'Genochondromatosis type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Genochondromatosis type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Genochondromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Genochondromatosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genochondromatosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Genochondromatosis type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_84065 Label: Idiopathic malabsorption due to bile acid synthesis defects - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'part_of' some 'Disorder of bile acid synthesis' - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bile acid synthesis' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_85196 Label: Nodulosis-arthropathy-osteolysis syndrome - 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'clinical subtype' - 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'part_of' some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_140047 Label: bone morphogenetic protein 4 - 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with brain and digit anomalies' - 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'bone morphogenetic protein 4' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' - 'bone morphogenetic protein 4' SubClassOf 'gene' + 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with brain and digit anomalies' + 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'bone morphogenetic protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'bone morphogenetic protein 4' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123524 Label: mitochondrially encoded cytochrome b - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome b' SubClassOf 'gene' - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histiocytoid cardiomyopathy' + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome b' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome b' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histiocytoid cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_93430 Label: Multiple metaphyseal dysplasia - 'Multiple metaphyseal dysplasia' SubClassOf 'group of disorders' + 'Multiple metaphyseal dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85195 Label: Familial expansile osteolysis - 'Familial expansile osteolysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial expansile osteolysis' SubClassOf 'disease' - 'Familial expansile osteolysis' SubClassOf 'part_of' some 'Primary osteolysis' + 'Familial expansile osteolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Familial expansile osteolysis' SubClassOf 'disease' + 'Familial expansile osteolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85194 Label: Spondylo-ocular syndrome - 'Spondylo-ocular syndrome' SubClassOf 'malformation syndrome' - 'Spondylo-ocular syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Spondylo-ocular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylo-ocular syndrome' SubClassOf 'malformation syndrome' + 'Spondylo-ocular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_85193 Label: Idiopathic juvenile osteoporosis - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic juvenile osteoporosis' SubClassOf 'malformation syndrome' - 'Idiopathic juvenile osteoporosis' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic juvenile osteoporosis' SubClassOf 'malformation syndrome' + 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_85192 Label: Calvarial doughnut lesions - bone fragility - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'malformation syndrome' + 'Calvarial doughnut lesions - bone fragility' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Calvarial doughnut lesions - bone fragility' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85191 Label: Singleton-Merten dysplasia - 'Singleton-Merten dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Singleton-Merten dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Singleton-Merten dysplasia' SubClassOf 'malformation syndrome' - 'Singleton-Merten dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Singleton-Merten dysplasia' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Singleton-Merten dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Singleton-Merten dysplasia' SubClassOf 'malformation syndrome' + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Singleton-Merten dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_140041 Label: oncostatin M receptor - 'oncostatin M receptor' SubClassOf 'gene' - 'oncostatin M receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'oncostatin M receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'oncostatin M receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'oncostatin M receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93426 Label: Short rib dysplasia - 'Short rib dysplasia' SubClassOf 'group of disorders' + 'Short rib dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213500 Label: Rare ovarian cancer - 'Rare ovarian cancer' SubClassOf 'group of disorders' + 'Rare ovarian cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare ovarian cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228308 Label: Carnitine palmitoyl transferase II deficiency, neonatal form - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93425 Label: Filamin-related bone disorder - 'Filamin-related bone disorder' SubClassOf 'group of disorders' + 'Filamin-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93424 Label: Perlecan-related bone disorder - 'Perlecan-related bone disorder' SubClassOf 'group of disorders' + 'Perlecan-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93423 Label: Sulfation-related bone disorder - 'Sulfation-related bone disorder' SubClassOf 'group of disorders' + 'Sulfation-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93422 Label: Type 11 collagen-related bone disorder - 'Type 11 collagen-related bone disorder' SubClassOf 'group of disorders' + 'Type 11 collagen-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213504 Label: Adenocarcinoma of ovary - 'Adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Adenocarcinoma of ovary' SubClassOf 'disease' + 'Adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' + 'Adenocarcinoma of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93421 Label: Type 2 collagen-related bone disorder - 'Type 2 collagen-related bone disorder' SubClassOf 'group of disorders' + 'Type 2 collagen-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228302 Label: Carnitine palmitoyl transferase II deficiency, myopathic form - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_prevalence' some 'Unknown' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' Class: http://www.orpha.net/ORDO/Orphanet_160320 Label: phosphodiesterase 6H, cGMP-specific, cone, gamma - 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'gene' - 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160322 Label: phosphatidylinositol-4-phosphate 5-kinase, type I, gamma - 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'gene' - 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120989 Label: cytochrome P450, family 27, subfamily A, polypeptide 1 - 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebrotendinous xanthomatosis' - 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebrotendinous xanthomatosis' + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228305 Label: Carnitine palmitoyl transferase II deficiency, severe infantile form - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93429 Label: Multiple epiphyseal dysplasia and pseudoachondroplasia - 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'group of disorders' + 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119462 Label: chloride channel, voltage-sensitive 7 - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Albers-Sch�nberg osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'gene' + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' + 'chloride channel, voltage-sensitive 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'chloride channel, voltage-sensitive 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Albers-Sch�nberg osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_93460 Label: Overgrowth syndrome - 'Overgrowth syndrome' SubClassOf 'group of disorders' + 'Overgrowth syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93461 Label: Chromosomal disease with overgrowth - 'Chromosomal disease with overgrowth' SubClassOf 'group of disorders' + 'Chromosomal disease with overgrowth' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33208 Label: Idiopathic hypersomnia - 'Idiopathic hypersomnia' SubClassOf 'part_of' some 'Sleep disorder' - 'Idiopathic hypersomnia' SubClassOf 'disease' - 'Idiopathic hypersomnia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic hypersomnia' SubClassOf 'has_prevalence' some 'Unknown' + 'Idiopathic hypersomnia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic hypersomnia' SubClassOf 'disease' + 'Idiopathic hypersomnia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Idiopathic hypersomnia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_228315 Label: Idiopathic hypersomnia with long sleep time - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'clinical subtype' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'part_of' some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia with long sleep time' SubClassOf 'clinical subtype' + 'Idiopathic hypersomnia with long sleep time' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_270389 Label: KIAA1033 - 'KIAA1033' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'KIAA1033' SubClassOf 'gene' + 'KIAA1033' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'KIAA1033' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA1033' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228312 Label: Autoimmune hemolytic anemia, cold type - 'Autoimmune hemolytic anemia, cold type' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia, cold type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_93454 Label: Dysostosis with predominant vertebral and costal involvement - 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'group of disorders' + 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93455 Label: Patellar dysostosis - 'Patellar dysostosis' SubClassOf 'group of disorders' + 'Patellar dysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225123 Label: Hemochromatosis type 3 - 'Hemochromatosis type 3' SubClassOf 'disease' - 'Hemochromatosis type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hemochromatosis type 3' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' - 'Hemochromatosis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hemochromatosis type 3' SubClassOf 'disease' + 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hemochromatosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemochromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary hemochromatosis' + 'Hemochromatosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93457 Label: Non-syndromic limb reduction defect - 'Non-syndromic limb reduction defect' SubClassOf 'group of disorders' + 'Non-syndromic limb reduction defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93458 Label: Non-syndromic polydactyly, syndactyly and/or hyperphalangy - 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'group of disorders' + 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93459 Label: Syndrome with synostosis or other joint formation defect - 'Syndrome with synostosis or other joint formation defect' SubClassOf 'group of disorders' + 'Syndrome with synostosis or other joint formation defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306617 Label: X-linked complicated spastic paraplegia type 1 - 'X-linked complicated spastic paraplegia type 1' SubClassOf 'part_of' some 'L1 syndrome' - 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' + 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' + 'X-linked complicated spastic paraplegia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119467 Label: chloride channel, voltage-sensitive Kb - 'chloride channel, voltage-sensitive Kb' SubClassOf 'gene' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Bartter syndrome' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gitelman syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Gitelman syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Bartter syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228318 Label: Idiopathic hypersomnia without long sleep time - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'clinical subtype' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'part_of' some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia without long sleep time' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'clinical subtype' + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Idiopathic hypersomnia without long sleep time' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_210163 Label: Congenital lethal myopathy, Compton-North type - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'disease' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'part_of' some 'Congenital myopathy' + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital lethal myopathy, Compton-North type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'disease' + 'Congenital lethal myopathy, Compton-North type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_262923 Label: Partial duplication of the long arm of chromosome 11 - 'Partial duplication of the long arm of chromosome 11' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262941 Label: Partial duplication of the long arm of chromosome 14 - 'Partial duplication of the long arm of chromosome 14' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 14' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285348 Label: miR-17-92 cluster host gene (non-protein coding) - 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'gene' - 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 2' + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_260894 Label: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase - '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'AICA-ribosiduria' - '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'gene' + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'AICA-ribosiduria' + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_285341 Label: PSMC3 interacting protein - 'PSMC3 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'PSMC3 interacting protein' SubClassOf 'gene' + 'PSMC3 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' + 'PSMC3 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PSMC3 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93453 Label: Dysostosis with predominant craniofacial involvement - 'Dysostosis with predominant craniofacial involvement' SubClassOf 'group of disorders' + 'Dysostosis with predominant craniofacial involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93451 Label: Cleidocranial dysplasia and isolated cranial ossification defect - 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'group of disorders' + 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93450 Label: Primary bone dysplasia with disorganized development of skeletal components - 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'group of disorders' + 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123500 Label: msh homeobox 2 - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis, Boston type' - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parietal foramina' - 'msh homeobox 2' SubClassOf 'gene' - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parietal foramina with cleidocranial dysplasia' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis, Boston type' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Parietal foramina' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.2"^^http://www.w3.org/2001/XMLSchema#string + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Parietal foramina with cleidocranial dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_33226 Label: Waldenstr�m macroglobulinemia - 'Waldenstr�m macroglobulinemia' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' - 'Waldenstr�m macroglobulinemia' SubClassOf 'part_of' some 'Malignant lymphoma with peripheral neuropathy' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Waldenstr�m macroglobulinemia' SubClassOf 'disease' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Waldenstr�m macroglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant lymphoma with peripheral neuropathy' + 'Waldenstr�m macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf 'disease' + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210159 Label: Adult hepatocellular carcinoma - 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' - 'Adult hepatocellular carcinoma' SubClassOf 'part_of' some 'Hepatocellular carcinoma' + 'Adult hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hepatocellular carcinoma' + 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220386 Label: Semilobar holoprosencephaly - 'Semilobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Semilobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Semilobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Semilobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' + 'Semilobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Semilobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Semilobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Semilobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_260889 Label: tubulin, alpha 8 - 'tubulin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria with optic nerve hypoplasia' - 'tubulin, alpha 8' SubClassOf 'gene' + 'tubulin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria with optic nerve hypoplasia' + 'tubulin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93446 Label: Primary bone dysplasia with decreased bone density - 'Primary bone dysplasia with decreased bone density' SubClassOf 'group of disorders' + 'Primary bone dysplasia with decreased bone density' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93443 Label: Neonatal osteosclerotic dysplasia - 'Neonatal osteosclerotic dysplasia' SubClassOf 'group of disorders' + 'Neonatal osteosclerotic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93444 Label: Primary bone dysplasia with increased bone density - 'Primary bone dysplasia with increased bone density' SubClassOf 'group of disorders' + 'Primary bone dysplasia with increased bone density' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93449 Label: Primary osteolysis - 'Primary osteolysis' SubClassOf 'group of disorders' + 'Primary osteolysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119453 Label: chloride channel, voltage-sensitive 5 - 'chloride channel, voltage-sensitive 5' SubClassOf 'gene' - 'chloride channel, voltage-sensitive 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dent disease type 1' + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dent disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label: CLN1 disease - 'CLN1 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'CLN1 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN1 disease' SubClassOf 'etiological subtype' - 'CLN1 disease' SubClassOf 'part_of' some 'Infantile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf 'etiological subtype' + 'CLN1 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_93447 Label: Primary bone dysplasia with defective bone mineralization - 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'group of disorders' + 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93448 Label: Lysosomal storage disease with skeletal involvement - 'Lysosomal storage disease with skeletal involvement' SubClassOf 'group of disorders' + 'Lysosomal storage disease with skeletal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262932 Label: Partial duplication of the long arm of chromosome 13 - 'Partial duplication of the long arm of chromosome 13' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 13' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262950 Label: Partial duplication of the long arm of chromosome 15 - 'Partial duplication of the long arm of chromosome 15' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 15' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119482 Label: solute carrier family 39 (zinc transporter), member 4 - 'solute carrier family 39 (zinc transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis enteropathica' - 'solute carrier family 39 (zinc transporter), member 4' SubClassOf 'gene' + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acrodermatitis enteropathica' + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100100 Label: Thymic tumor - 'Thymic tumor' SubClassOf 'group of disorders' + 'Thymic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306636 Label: Rare hepatic tumor - 'Rare hepatic tumor' SubClassOf 'group of disorders' + 'Rare hepatic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label: CLN10 disease - 'CLN10 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'part_of' some 'Congenital neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'CLN10 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'etiological subtype' - 'CLN10 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf 'etiological subtype' + 'CLN10 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_306633 Label: Rare biliary tract cancer - 'Rare biliary tract cancer' SubClassOf 'group of disorders' + 'Rare biliary tract cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325055 Label: 46,XX disorder of gonadal development - '46,XX disorder of gonadal development' SubClassOf 'group of disorders' + '46,XX disorder of gonadal development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119486 Label: solute carrier family 40 (iron-regulated transporter), member 1 - 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 4' - 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'gene' + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 4' + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_200995 Label: cyclin-dependent kinase inhibitor 1B (p27, Kip1) - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 4' - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 4' + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.1-p12"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_93476 Label: Hurler-Scheie syndrome - 'Hurler-Scheie syndrome' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Hurler-Scheie syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hurler-Scheie syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' - 'Hurler-Scheie syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Hurler-Scheie syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100101 Label: Endocrine tumor with other location - 'Endocrine tumor with other location' SubClassOf 'group of disorders' + 'Endocrine tumor with other location' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225147 Label: Sporadic infantile bilateral striatal necrosis - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Infantile bilateral striatal necrosis' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sporadic infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile bilateral striatal necrosis' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_93474 Label: Scheie syndrome - 'Scheie syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' - 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Scheie syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Scheie syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Scheie syndrome' SubClassOf 'clinical subtype' + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Scheie syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Scheie syndrome' SubClassOf 'clinical subtype' + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_93473 Label: Hurler syndrome - 'Hurler syndrome' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' - 'Hurler syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hurler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hurler syndrome' SubClassOf 'clinical subtype' - 'Hurler syndrome' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Hurler syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' - 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hurler syndrome' SubClassOf 'clinical subtype' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_119470 Label: claudin 1 - 'claudin 1' SubClassOf 'gene' - 'claudin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis - hypotrichosis - sclerosing cholangitis' + 'claudin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'claudin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q28-q29"^^http://www.w3.org/2001/XMLSchema#string + 'claudin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis - hypotrichosis - sclerosing cholangitis' Class: http://www.orpha.net/ORDO/Orphanet_99226 Label: Monosomy X - 'Monosomy X' SubClassOf 'etiological subtype' - 'Monosomy X' SubClassOf 'part_of' some 'Turner syndrome' + 'Monosomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Turner syndrome' + 'Monosomy X' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_99228 Label: Mosaic monosomy X - 'Mosaic monosomy X' SubClassOf 'part_of' some 'Turner syndrome' - 'Mosaic monosomy X' SubClassOf 'etiological subtype' + 'Mosaic monosomy X' SubClassOf 'etiological subtype' + 'Mosaic monosomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119474 Label: solute carrier family 37 (glucose-6-phosphate transporter), member 4 - 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' - 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'gene' + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325061 Label: 46,XX disorder of sex development induced by fetoplacental androgens excess - '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228340 Label: CLN4A disease - 'CLN4A disease' SubClassOf 'etiological subtype' - 'CLN4A disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN4A disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN4A disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'CLN4A disease' SubClassOf 'etiological subtype' + 'CLN4A disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN4A disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLN4A disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_228343 Label: CLN4B disease - 'CLN4B disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CLN4B disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CLN4B disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN4B disease' SubClassOf 'etiological subtype' + 'CLN4B disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CLN4B disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLN4B disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN4B disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label: CLN3 disease - 'CLN3 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN3 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN3 disease' SubClassOf 'etiological subtype' - 'CLN3 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN3 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN3 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN3 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN3 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label: CLN2 disease - 'CLN2 disease' SubClassOf 'etiological subtype' - 'CLN2 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN2 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN2 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN2 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'etiological subtype' + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_225154 Label: Familial infantile bilateral striatal necrosis - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Infantile bilateral striatal necrosis' + 'Familial infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile bilateral striatal necrosis' + 'Familial infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_262959 Label: Partial trisomy of the long arm of chromosome 16 - 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93465 Label: Lethal chondrodysplasia - 'Lethal chondrodysplasia' SubClassOf 'group of disorders' + 'Lethal chondrodysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331710 Label: diacylglycerol O-acyltransferase 1 - 'diacylglycerol O-acyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital chronic diarrhea with protein-losing enteropathy' - 'diacylglycerol O-acyltransferase 1' SubClassOf 'gene' + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital chronic diarrhea with protein-losing enteropathy' + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96369 Label: Early-onset schizophrenia - 'Early-onset schizophrenia' SubClassOf 'group of disorders' + 'Early-onset schizophrenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325345 Label: 46,XY ovotesticular disorder of sex development - '46,XY ovotesticular disorder of sex development' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - '46,XY ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XY ovotesticular disorder of sex development' SubClassOf 'disease' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XY ovotesticular disorder of sex development' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_66661 Label: Mast cell sarcoma - 'Mast cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mast cell sarcoma' SubClassOf 'disease' - 'Mast cell sarcoma' SubClassOf 'part_of' some 'Mastocytosis' + 'Mast cell sarcoma' SubClassOf 'disease' + 'Mast cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mast cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_66662 Label: Extracutaneous mastocytoma - 'Extracutaneous mastocytoma' SubClassOf 'part_of' some 'Mastocytosis' - 'Extracutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Extracutaneous mastocytoma' SubClassOf 'disease' + 'Extracutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Extracutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mastocytosis' + 'Extracutaneous mastocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_210571 Label: Dystonia 16 - 'Dystonia 16' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dystonia 16' SubClassOf 'disease' - 'Dystonia 16' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Dystonia 16' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Dystonia 16' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dystonia 16' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Dystonia 16' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dystonia 16' SubClassOf 'disease' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dystonia 16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_210576 Label: Congenital temporomandibular joint ankylosis - 'Congenital temporomandibular joint ankylosis' SubClassOf 'disease' - 'Congenital temporomandibular joint ankylosis' SubClassOf 'part_of' some 'Temporomandibular joint anomaly' + 'Congenital temporomandibular joint ankylosis' SubClassOf 'disease' + 'Congenital temporomandibular joint ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Temporomandibular joint anomaly' Class: http://www.orpha.net/ORDO/Orphanet_258610 Label: proteasome (prosome, macropain) subunit, beta type, 8 - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CANDLE syndrome' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'gene' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nakajo-Nishimura syndrome' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'JMP syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CANDLE syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nakajo-Nishimura syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'JMP syndrome' Class: http://www.orpha.net/ORDO/Orphanet_331721 Label: WD repeat domain 45 - 'WD repeat domain 45' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-propeller protein-associated neurodegeneration' - 'WD repeat domain 45' SubClassOf 'gene' + 'WD repeat domain 45' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 45' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-propeller protein-associated neurodegeneration' + 'WD repeat domain 45' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_39812 Label: Graft versus host disease - 'Graft versus host disease' SubClassOf 'disease' - 'Graft versus host disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Graft versus host disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Graft versus host disease' SubClassOf 'part_of' some 'Rare immune disease' - 'Graft versus host disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Graft versus host disease' SubClassOf 'disease' + 'Graft versus host disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Graft versus host disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Graft versus host disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_48372 Label: Nodular regenerative hyperplasia of the liver - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'disease' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_prevalence' some 'Unknown' + 'Nodular regenerative hyperplasia of the liver' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'disease' + 'Nodular regenerative hyperplasia of the liver' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular regenerative hyperplasia of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_69125 Label: Anonychia with flexural pigmentation - 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anonychia with flexural pigmentation' SubClassOf 'malformation syndrome' - 'Anonychia with flexural pigmentation' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Anonychia with flexural pigmentation' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Anonychia with flexural pigmentation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anonychia with flexural pigmentation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Anonychia with flexural pigmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anonychia with flexural pigmentation' SubClassOf 'malformation syndrome' + 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anonychia with flexural pigmentation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_48377 Label: Subcorneal pustular dermatosis - 'Subcorneal pustular dermatosis' SubClassOf 'disease' - 'Subcorneal pustular dermatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Subcorneal pustular dermatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Subcorneal pustular dermatosis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Subcorneal pustular dermatosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Subcorneal pustular dermatosis' SubClassOf 'disease' + 'Subcorneal pustular dermatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Subcorneal pustular dermatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Subcorneal pustular dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_69126 Label: Pyogenic arthritis - pyoderma gangrenosum - acne - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'disease' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_210581 Label: Temporomandibular joint anomaly - 'Temporomandibular joint anomaly' SubClassOf 'group of disorders' + 'Temporomandibular joint anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_258625 Label: aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 - 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' - 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'gene' + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_210584 Label: Spindle cell hemangioma - 'Spindle cell hemangioma' SubClassOf 'disease' - 'Spindle cell hemangioma' SubClassOf 'part_of' some 'Giant infantile hemangioma' + 'Spindle cell hemangioma' SubClassOf 'disease' + 'Spindle cell hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Giant infantile hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_258621 Label: NIMA-related kinase 1 - 'NIMA-related kinase 1' SubClassOf 'gene' - 'NIMA-related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'NIMA-related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIMA-related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'NIMA-related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_331716 Label: ubiquitin protein ligase E3B - 'ubiquitin protein ligase E3B' SubClassOf 'gene' - 'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' - 'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocerebrofacial syndrome, Kaufman type' + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculocerebrofacial syndrome, Kaufman type' + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.12"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' Class: http://www.orpha.net/ORDO/Orphanet_210589 Label: Infantile hemangioma of rare localization - 'Infantile hemangioma of rare localization' SubClassOf 'group of disorders' + 'Infantile hemangioma of rare localization' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181124 Label: ST3 beta-galactoside alpha-2,3-sialyltransferase 5 - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish infantile epilepsy syndrome' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'gene' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Salt-and-pepper syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish infantile epilepsy syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Salt-and-pepper syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401986 Label: 1p31p32 microdeletion syndrome - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' - '1p31p32 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 1' + '1p31p32 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66637 Label: Diaphanospondylodysostosis - 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diaphanospondylodysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Diaphanospondylodysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diaphanospondylodysostosis' SubClassOf 'malformation syndrome' - 'Diaphanospondylodysostosis' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Diaphanospondylodysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Diaphanospondylodysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diaphanospondylodysostosis' SubClassOf 'malformation syndrome' + 'Diaphanospondylodysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_66646 Label: Cutaneous mastocytosis - 'Cutaneous mastocytosis' SubClassOf 'group of disorders' - 'Cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cutaneous mastocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Cutaneous mastocytosis' SubClassOf 'group of disorders' + 'Cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_400463 Label: tubby bipartite transcription factor - 'tubby bipartite transcription factor' SubClassOf 'gene' - 'tubby bipartite transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401993 Label: Cold-induced sweating syndrome-hyperthermia spectrum - 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'group of disorders' + 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181135 Label: keratin 4 - 'keratin 4' SubClassOf 'gene' - 'keratin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401996 Label: Karyomegalic interstitial nephritis - 'Karyomegalic interstitial nephritis' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Karyomegalic interstitial nephritis' SubClassOf 'disease' + 'Karyomegalic interstitial nephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Karyomegalic interstitial nephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181140 Label: keratin 13 - 'keratin 13' SubClassOf 'gene' - 'keratin 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' Class: http://www.orpha.net/ORDO/Orphanet_311587 Label: nuclear receptor coactivator 4 - 'nuclear receptor coactivator 4' SubClassOf 'gene' - 'nuclear receptor coactivator 4' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'nuclear receptor coactivator 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor coactivator 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor coactivator 4' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_401964 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_268261 Label: 21q22.13q22.2 microdeletion syndrome - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 21' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '21q22.13q22.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 21' + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '21q22.13q22.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_251863 Label: Desmoplastic/nodular medulloblastoma - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'histopathological subtype' + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Desmoplastic/nodular medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_138386 Label: SRY (sex determining region Y)-box 3 - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked congenital generalized hypertrichosis' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'SRY (sex determining region Y)-box 3' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with isolated growth hormone deficiency' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked congenital generalized hypertrichosis' + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.1"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some '46,XX testicular disorder of sex development' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_209199 Label: Qualitative or quantitative defects of protein SERCA1 - 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331747 Label: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'gene' - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal dystonia, DYT25' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.22-p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal dystonia, DYT25' Class: http://www.orpha.net/ORDO/Orphanet_331749 Label: core-binding factor, runt domain, alpha subunit 2; translocated to, 3 - 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' - 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'gene' + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138383 Label: LIM homeobox 4 - 'LIM homeobox 4' SubClassOf 'gene' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature - pituitary and cerebellar defects - small sella turcica' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'LIM homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature - pituitary and cerebellar defects - small sella turcica' + 'LIM homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_209196 Label: Qualitative or quantitative defects of plectin - 'Qualitative or quantitative defects of plectin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of plectin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300293 Label: Transient infantile hypertriglyceridemia and hepatosteatosis - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'disease' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_209193 Label: Qualitative or quantitative defects of selenoprotein N1 - 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251855 Label: Anaplastic/large cell medulloblastoma - 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anaplastic/large cell medulloblastoma' SubClassOf 'histopathological subtype' - 'Anaplastic/large cell medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' + 'Anaplastic/large cell medulloblastoma' SubClassOf 'histopathological subtype' + 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anaplastic/large cell medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_66624 Label: PANDAS - 'PANDAS' SubClassOf 'has_inheritance' some 'sporadic' - 'PANDAS' SubClassOf 'disease' - 'PANDAS' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'PANDAS' SubClassOf 'has_prevalence' some 'Unknown' - 'PANDAS' SubClassOf 'part_of' some 'Postinfectious autoimmune disease with chorea' + 'PANDAS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'PANDAS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious autoimmune disease with chorea' + 'PANDAS' SubClassOf 'disease' + 'PANDAS' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_251858 Label: Medulloblastoma with extensive nodularity - 'Medulloblastoma with extensive nodularity' SubClassOf 'has_inheritance' some 'sporadic' - 'Medulloblastoma with extensive nodularity' SubClassOf 'histopathological subtype' - 'Medulloblastoma with extensive nodularity' SubClassOf 'part_of' some 'Medulloblastoma' - 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Medulloblastoma with extensive nodularity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Medulloblastoma with extensive nodularity' SubClassOf 'histopathological subtype' + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_300298 Label: Severe congenital hypochromic anemia with ringed sideroblasts - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'disease' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'disease' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_66625 Label: Cerebro-oculo-nasal syndrome - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebro-oculo-nasal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66627 Label: Pigmented villonodular synovitis - 'Pigmented villonodular synovitis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Pigmented villonodular synovitis' SubClassOf 'disease' + 'Pigmented villonodular synovitis' SubClassOf 'disease' + 'Pigmented villonodular synovitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_66628 Label: Obesity due to congenital leptin deficiency - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to congenital leptin deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' - 'Obesity due to congenital leptin deficiency' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Obesity due to congenital leptin deficiency' SubClassOf 'disease' - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Obesity due to congenital leptin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Obesity due to congenital leptin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Obesity due to congenital leptin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to congenital leptin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251870 Label: Central nervous system primitive neuroectodermal tumor - 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'group of disorders' + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'group of disorders' + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_66629 Label: Goldberg-Shprintzen megacolon syndrome - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'malformation syndrome' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'malformation syndrome' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_159200 Label: CD3e molecule, epsilon (CD3-TCR complex) - 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' - 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'gene' + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401979 Label: Autosomal recessive spondylometaphyseal dysplasia, M�garban� type - 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_159207 Label: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'gene' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4J' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral parasagittal parieto-occipital polymicrogyria' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Yunis-Varon syndrome' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary lateral sclerosis' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4J' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Yunis-Varon syndrome' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral parasagittal parieto-occipital polymicrogyria' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401973 Label: MEND syndrome - 'MEND syndrome' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'MEND syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'MEND syndrome' SubClassOf 'malformation syndrome' - 'MEND syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'MEND syndrome' SubClassOf 'malformation syndrome' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_63442 Label: Angel-shaped phalango-epiphyseal dysplasia - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209188 Label: Qualitative or quantitative defects of emerin - 'Qualitative or quantitative defects of emerin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of emerin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_63443 Label: Gastric cancer - 'Gastric cancer' SubClassOf 'has_inheritance' some 'sporadic' - 'Gastric cancer' SubClassOf 'has_prevalence' some 'Unknown' - 'Gastric cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gastric cancer' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Gastric cancer' SubClassOf 'group of disorders' + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "18.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "49.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'group of disorders' + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_63440 Label: Isolated oxycephaly - 'Isolated oxycephaly' SubClassOf 'morphological anomaly' - 'Isolated oxycephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated oxycephaly' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated oxycephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated oxycephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated oxycephaly' SubClassOf 'has_inheritance' some 'sporadic' + 'Isolated oxycephaly' SubClassOf 'morphological anomaly' + 'Isolated oxycephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated oxycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated oxycephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated oxycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated oxycephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_33276 Label: Kaposi's sarcoma - 'Kaposi's sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Kaposi's sarcoma' SubClassOf 'part_of' some 'HHV-8 related disorders' - 'Kaposi's sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Kaposi's sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Kaposi's sarcoma' SubClassOf 'disease' - 'Kaposi's sarcoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Kaposi's sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "2.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Kaposi's sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HHV-8 related disorders' + 'Kaposi's sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kaposi's sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kaposi's sarcoma' SubClassOf 'disease' + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_209185 Label: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209182 Label: Qualitative or quantitative defects of nebulin - 'Qualitative or quantitative defects of nebulin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of nebulin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_66631 Label: CEDNIK syndrome - 'CEDNIK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CEDNIK syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CEDNIK syndrome' SubClassOf 'disease' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'CEDNIK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CEDNIK syndrome' SubClassOf 'disease' + 'CEDNIK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_300284 Label: Connective tissue disorder due to lysyl hydroxylase-3 deficiency - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'disease' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Rare systemic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251867 Label: Classic medulloblastoma - 'Classic medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Classic medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' - 'Classic medulloblastoma' SubClassOf 'histopathological subtype' + 'Classic medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Classic medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Classic medulloblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_66630 Label: Congenital pseudoarthrosis of clavicle - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'part_of' some 'Dysostosis of genetic origin' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'disease' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'part_of' some 'Dysostosis' + 'Congenital pseudoarthrosis of clavicle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis' + 'Congenital pseudoarthrosis of clavicle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin' + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'disease' + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_66633 Label: Sensorineural hearing loss - early graying - essential tremor - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Rare genetic tremor disorder' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'malformation syndrome' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'malformation syndrome' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_119324 Label: corneodesmosin - 'corneodesmosin' SubClassOf 'gene' - 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peeling skin syndrome type B' - 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peeling skin syndrome type B' + 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'corneodesmosin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'corneodesmosin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_66634 Label: Dilated cardiomyopathy with ataxia - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'part_of' some '3-methylglutaconic aciduria' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_401945 Label: Moyamoya disease with early-onset achalasia - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_401948 Label: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disease' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gluconeogenesis disorder' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disease' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of branched-chain amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_120690 Label: collagen, type XI, alpha 1 - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall syndrome' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 2' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' - 'collagen, type XI, alpha 1' SubClassOf 'gene' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall syndrome' + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fibrochondrogenesis' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 2' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401942 Label: Familial median cleft of the upper and lower lips - 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Genetic head and neck malformation' - 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Median facial cleft' - 'Familial median cleft of the upper and lower lips' SubClassOf 'malformation syndrome' + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic head and neck malformation' + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Familial median cleft of the upper and lower lips' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90280 Label: Chilblain lupus - 'Chilblain lupus' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Chilblain lupus' SubClassOf 'disease' - 'Chilblain lupus' SubClassOf 'part_of' some 'Skin vascular disease' - 'Chilblain lupus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Chilblain lupus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90281 Label: Discoid lupus erythematosus - 'Discoid lupus erythematosus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Discoid lupus erythematosus' SubClassOf 'disease' + 'Discoid lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Discoid lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Discoid lupus erythematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138366 Label: fms-related tyrosine kinase 3 - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute biphenotypic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Minimally differentiated acute myeloblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' - 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'fms-related tyrosine kinase 3' SubClassOf 'gene' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute biphenotypic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Minimally differentiated acute myeloblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' + 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'fms-related tyrosine kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' Class: http://www.orpha.net/ORDO/Orphanet_120698 Label: collagen, type XVII, alpha 1 - 'collagen, type XVII, alpha 1' SubClassOf 'gene' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset junctional epidermolysis bullosa' + 'collagen, type XVII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'collagen, type XVII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_90285 Label: Lupus erythematosus panniculitis - 'Lupus erythematosus panniculitis' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Lupus erythematosus panniculitis' SubClassOf 'disease' + 'Lupus erythematosus panniculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Lupus erythematosus panniculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Lupus erythematosus panniculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268249 Label: Mycophenolate mofetil embryopathy - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mycophenolate mofetil embryopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mycophenolate mofetil embryopathy' SubClassOf 'disease' - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_inheritance' some 'sporadic' + 'Mycophenolate mofetil embryopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycophenolate mofetil embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mycophenolate mofetil embryopathy' SubClassOf 'disease' + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_90282 Label: Hypertrophic or verrucous lupus erythematosus - 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'disease' - 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' + 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'disease' + 'Hypertrophic or verrucous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_120693 Label: collagen, type XI, alpha 2 - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otospondylomegaepiphyseal dysplasia' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 3' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'collagen, type XI, alpha 2' SubClassOf 'gene' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weissenbacher- Zweymuller syndrome' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Otospondylomegaepiphyseal dysplasia' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 3' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weissenbacher- Zweymuller syndrome' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_90283 Label: Lupus erythematosus tumidus - 'Lupus erythematosus tumidus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Lupus erythematosus tumidus' SubClassOf 'disease' + 'Lupus erythematosus tumidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Lupus erythematosus tumidus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138361 Label: NLR family, pyrin domain containing 12 - 'NLR family, pyrin domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'NLRP12-associated hereditary periodic fever syndrome' - 'NLR family, pyrin domain containing 12' SubClassOf 'gene' + 'NLR family, pyrin domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.42"^^http://www.w3.org/2001/XMLSchema#string + 'NLR family, pyrin domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'NLRP12-associated hereditary periodic fever syndrome' + 'NLR family, pyrin domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_258631 Label: SPARC related modular calcium binding 1 - 'SPARC related modular calcium binding 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' - 'SPARC related modular calcium binding 1' SubClassOf 'gene' + 'SPARC related modular calcium binding 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SPARC related modular calcium binding 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' + 'SPARC related modular calcium binding 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_258633 Label: anoctamin 6 - 'anoctamin 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scott syndrome' - 'anoctamin 6' SubClassOf 'gene' + 'anoctamin 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scott syndrome' + 'anoctamin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anoctamin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_210592 Label: Giant infantile hemangioma - 'Giant infantile hemangioma' SubClassOf 'group of disorders' + 'Giant infantile hemangioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317366 Label: alpha- and gamma-adaptin binding protein - 'alpha- and gamma-adaptin binding protein' SubClassOf 'gene' - 'alpha- and gamma-adaptin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Punctate palmoplantar keratoderma type 1' + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.33-q23"^^http://www.w3.org/2001/XMLSchema#string + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Punctate palmoplantar keratoderma type 1' Class: http://www.orpha.net/ORDO/Orphanet_401959 Label: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'malformation syndrome' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120681 Label: cochlin - 'cochlin' SubClassOf 'gene' - 'cochlin' SubClassOf 'Major susceptibility factor in' some 'M�ni�re disease' - 'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'cochlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'cochlin' SubClassOf 'Major susceptibility factor in' some 'M�ni�re disease' + 'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'cochlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251852 Label: Embryonal tumor of the neuroepithelial tissue - 'Embryonal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' + 'Embryonal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401953 Label: Episodic ataxia with slurred speech - 'Episodic ataxia with slurred speech' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia with slurred speech' SubClassOf 'disease' + 'Episodic ataxia with slurred speech' SubClassOf 'disease' + 'Episodic ataxia with slurred speech' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_120686 Label: component of oligomeric golgi complex 7 - 'component of oligomeric golgi complex 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG7-CDG' - 'component of oligomeric golgi complex 7' SubClassOf 'gene' + 'component of oligomeric golgi complex 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG7-CDG' + 'component of oligomeric golgi complex 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90290 Label: CREST syndrome - 'CREST syndrome' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'CREST syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CREST syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'CREST syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CREST syndrome' SubClassOf 'clinical subtype' - 'CREST syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'CREST syndrome' SubClassOf 'part_of' some 'Systemic sclerosis' + 'CREST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'CREST syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CREST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'CREST syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'CREST syndrome' SubClassOf 'clinical subtype' + 'CREST syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'CREST syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_90291 Label: Systemic sclerosis - 'Systemic sclerosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Scleroderma' - 'Systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Systemic sclerosis' SubClassOf 'disease' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "110.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Systemic sclerosis' SubClassOf 'disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "204.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Scleroderma' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "72.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "230.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120688 Label: collagen, type X, alpha 1 - 'collagen, type X, alpha 1' SubClassOf 'gene' - 'collagen, type X, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Schmid type' + 'collagen, type X, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type X, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Schmid type' + 'collagen, type X, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138376 Label: platelet-derived growth factor receptor, beta polypeptide - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRB rearrangement' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'gene' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Unclassified chronic myeloproliferative disease' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRB rearrangement' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Unclassified chronic myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_90287 Label: Maculopapular lupus rash - 'Maculopapular lupus rash' SubClassOf 'disease' - 'Maculopapular lupus rash' SubClassOf 'part_of' some 'Acute cutaneous lupus erythematosus' + 'Maculopapular lupus rash' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute cutaneous lupus erythematosus' + 'Maculopapular lupus rash' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90289 Label: Localized scleroderma - 'Localized scleroderma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Localized scleroderma' SubClassOf 'part_of' some 'Scleroderma' - 'Localized scleroderma' SubClassOf 'disease' - 'Localized scleroderma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Localized scleroderma' SubClassOf 'has_inheritance' some 'sporadic' + 'Localized scleroderma' SubClassOf 'disease' + 'Localized scleroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Scleroderma' + 'Localized scleroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Localized scleroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Localized scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_231494 Label: tumor necrosis factor receptor superfamily, member 13C - 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'gene' + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119300 Label: cyclin-dependent kinase inhibitor 1C (p57, Kip2) - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to a point mutation' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'IMAGe syndrome' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Silver-Russell syndrome due to a point mutation' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'IMAGe syndrome' Class: http://www.orpha.net/ORDO/Orphanet_317358 Label: host cell factor C1 - 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'host cell factor C1' SubClassOf 'gene' - 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblX' + 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'host cell factor C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblX' + 'host cell factor C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325351 Label: 46,XY disorder of sex development of endocrine origin - '46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' + '46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356638 Label: immunoglobulin heavy variable 4-34 - 'immunoglobulin heavy variable 4-34' SubClassOf 'gene' - 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia' - 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia variant' + 'immunoglobulin heavy variable 4-34' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia' + 'immunoglobulin heavy variable 4-34' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia variant' Class: http://www.orpha.net/ORDO/Orphanet_325357 Label: 46,XY disorder of sex development due to impaired androgen production - '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119306 Label: cyclin-dependent kinase inhibitor 2A - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melanoma and neural system tumor syndrome' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Melanoma-pancreatic cancer syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melanoma and neural system tumor syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atypical multiple mole melanoma syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Melanoma-pancreatic cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251899 Label: Choroid plexus carcinoma - 'Choroid plexus carcinoma' SubClassOf 'part_of' some 'Choroid plexus tumor' - 'Choroid plexus carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Choroid plexus carcinoma' SubClassOf 'disease' - 'Choroid plexus carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Choroid plexus carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choroid plexus tumor' + 'Choroid plexus carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Choroid plexus carcinoma' SubClassOf 'disease' + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_361085 Label: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa - 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'gene' - 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.1-q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371844 Label: solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'gene' - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 6' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 6' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_317387 Label: calmodulin 1 (phosphorylase kinase, delta) - 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'gene' + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178509 Label: Perry syndrome - 'Perry syndrome' SubClassOf 'disease' - 'Perry syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Perry syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Perry syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Perry syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Perry syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Perry syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Perry syndrome' SubClassOf 'disease' + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Perry syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Perry syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_377496 Label: LYR motif containing 7 - 'LYR motif containing 7' SubClassOf 'gene' - 'LYR motif containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'LYR motif containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LYR motif containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'LYR motif containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231466 Label: Acute sensory ataxic neuropathy - 'Acute sensory ataxic neuropathy' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute sensory ataxic neuropathy' SubClassOf 'disease' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute sensory ataxic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' + 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute sensory ataxic neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute sensory ataxic neuropathy' SubClassOf 'disease' + 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_312680 Label: branched chain ketoacid dehydrogenase kinase - 'branched chain ketoacid dehydrogenase kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' - 'branched chain ketoacid dehydrogenase kinase' SubClassOf 'gene' + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178506 Label: Brain calcification, Rajab type - 'Brain calcification, Rajab type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain calcification, Rajab type' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Brain calcification, Rajab type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brain calcification, Rajab type' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Brain calcification, Rajab type' SubClassOf 'disease' + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Brain calcification, Rajab type' SubClassOf 'disease' + 'Brain calcification, Rajab type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Brain calcification, Rajab type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_54370 Label: Primary membranoproliferative glomerulonephritis - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_201770 Label: activating transcription factor 1 - 'activating transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' - 'activating transcription factor 1' SubClassOf 'gene' + 'activating transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'activating transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' + 'activating transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_307871 Label: Disease with focal palmoplantar keratoderma as a major feature - 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269879 Label: surfactant protein A2 - 'surfactant protein A2' SubClassOf 'gene' - 'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163703 Label: Febrile infection-related epilepsy syndrome - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'disease' + 'Febrile infection-related epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Febrile infection-related epilepsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Febrile infection-related epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Febrile infection-related epilepsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Febrile infection-related epilepsy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254698 Label: Epithelioid trophoblastic tumor - 'Epithelioid trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Epithelioid trophoblastic tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Epithelioid trophoblastic tumor' SubClassOf 'disease' - 'Epithelioid trophoblastic tumor' SubClassOf 'part_of' some 'Gestational trophoblastic neoplasm' - 'Epithelioid trophoblastic tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Epithelioid trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Epithelioid trophoblastic tumor' SubClassOf 'disease' + 'Epithelioid trophoblastic tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Epithelioid trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_2700 Label: Noma - 'Noma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Noma' SubClassOf 'disease' - 'Noma' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Noma' SubClassOf 'has_prevalence' some 'Unknown' + 'Noma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Noma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Noma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2701 Label: Noonan syndrome-like disorder with loose anagen hair - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'malformation syndrome' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Alopecia' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'malformation syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_317382 Label: potassium channel, subfamily T, member 1 - 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' - 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' - 'potassium channel, subfamily T, member 1' SubClassOf 'gene' + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Malignant migrating partial seizures of infancy' Class: http://www.orpha.net/ORDO/Orphanet_163708 Label: Cryptogenic late-onset epileptic spasms - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'disease' + 'Cryptogenic late-onset epileptic spasms' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cryptogenic late-onset epileptic spasms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Cryptogenic late-onset epileptic spasms' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254693 Label: Partial hydatidiform mole - 'Partial hydatidiform mole' SubClassOf 'has_prevalence' some 'Unknown' - 'Partial hydatidiform mole' SubClassOf 'clinical subtype' - 'Partial hydatidiform mole' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Partial hydatidiform mole' SubClassOf 'part_of' some 'Hydatidiform mole' - 'Partial hydatidiform mole' SubClassOf 'has_inheritance' some 'sporadic' + 'Partial hydatidiform mole' SubClassOf 'clinical subtype' + 'Partial hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hydatidiform mole' + 'Partial hydatidiform mole' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Partial hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_355507 Label: interleukin 2 receptor, beta - 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'interleukin 2 receptor, beta' SubClassOf 'gene' + 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'interleukin 2 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'interleukin 2 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284155 Label: interleukin 11 receptor, alpha - 'interleukin 11 receptor, alpha' SubClassOf 'gene' - 'interleukin 11 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis and dental anomalies' + 'interleukin 11 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 11 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 11 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis and dental anomalies' Class: http://www.orpha.net/ORDO/Orphanet_178512 Label: Folliculotropic mycosis fungoides - 'Folliculotropic mycosis fungoides' SubClassOf 'disease' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_inheritance' some 'sporadic' - 'Folliculotropic mycosis fungoides' SubClassOf 'part_of' some 'Mycosis fungoides and variants' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_prevalence' some 'Unknown' + 'Folliculotropic mycosis fungoides' SubClassOf 'disease' + 'Folliculotropic mycosis fungoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Folliculotropic mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' + 'Folliculotropic mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_54368 Label: Sarcocystosis - 'Sarcocystosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Sarcocystosis' SubClassOf 'disease' + 'Sarcocystosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Sarcocystosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_361071 Label: nuclear receptor subfamily 4, group A, member 3 - 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' - 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'gene' + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_85436 Label: Juvenile psoriatic arthritis - 'Juvenile psoriatic arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Juvenile psoriatic arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Juvenile psoriatic arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile psoriatic arthritis' SubClassOf 'disease' + 'Juvenile psoriatic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile psoriatic arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Juvenile psoriatic arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile psoriatic arthritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85435 Label: Juvenile rheumatoid factor-positive polyarthritis - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'disease' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'part_of' some 'Juvenile polyarthritis' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'disease' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile polyarthritis' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85438 Label: Enthesitis-related arthritis - 'Enthesitis-related arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Enthesitis-related arthritis' SubClassOf 'malformation syndrome' - 'Enthesitis-related arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Enthesitis-related arthritis' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'Enthesitis-related arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Enthesitis-related arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Enthesitis-related arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Enthesitis-related arthritis' SubClassOf 'malformation syndrome' + 'Enthesitis-related arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Enthesitis-related arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Enthesitis-related arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_163721 Label: Rolandic epilepsy - speech dyspraxia - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'disease' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rolandic epilepsy - speech dyspraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284160 Label: 8q21.11 microdeletion syndrome - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q21.11 microdeletion syndrome' SubClassOf 'malformation syndrome' - '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '8q21.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '8q21.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_406905 Label: KIAA0226 - 'KIAA0226' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' - 'KIAA0226' SubClassOf 'gene' + 'KIAA0226' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA0226' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' + 'KIAA0226' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85442 Label: Short stature - pituitary and cerebellar defects - small sella turcica - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'disease' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'disease' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85443 Label: AL amyloidosis - 'AL amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'AL amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'AL amyloidosis' SubClassOf 'disease' - 'AL amyloidosis' SubClassOf 'part_of' some 'Plasma cell tumor' - 'AL amyloidosis' SubClassOf 'part_of' some 'Rare familial disorder with hypertrophic cardiomyopathy' - 'AL amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'AL amyloidosis' SubClassOf 'part_of' some 'Acquired amyloid peripheral neuropathy' - 'AL amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired amyloid peripheral neuropathy' + 'AL amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'AL amyloidosis' SubClassOf 'disease' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare familial disorder with hypertrophic cardiomyopathy' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'AL amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'AL amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_163717 Label: Benign familial mesial temporal lobe epilepsy - 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'disease' + 'Benign familial mesial temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85445 Label: Secondary amyloidosis - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Secondary amyloidosis' SubClassOf 'disease' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Secondary amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Acquired amyloid peripheral neuropathy' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired amyloid peripheral neuropathy' + 'Secondary amyloidosis' SubClassOf 'disease' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Secondary amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Secondary amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_284169 Label: 10p11.21p12.31 microdeletion syndrome - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'malformation syndrome' + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + '10p11.21p12.31 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138359 Label: NME/NM23 family member 8 - 'NME/NM23 family member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'NME/NM23 family member 8' SubClassOf 'gene' + 'NME/NM23 family member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'NME/NM23 family member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'NME/NM23 family member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_317370 Label: peroxisomal biogenesis factor 11 beta - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'gene' + 'peroxisomal biogenesis factor 11 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 11 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_276525 Label: Familial hyperinsulinism - 'Familial hyperinsulinism' SubClassOf 'group of disorders' + 'Familial hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317373 Label: leucine rich repeat containing 6 - 'leucine rich repeat containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'leucine rich repeat containing 6' SubClassOf 'gene' + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406901 Label: tyrosyl-DNA phosphodiesterase 2 - 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'gene' - 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.3-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123393 Label: adenomatous polyposis coli - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'APC-related attenuated familial adenomatous polyposis' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gardner syndrome' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Turcot syndrome with polyposis' - 'adenomatous polyposis coli' SubClassOf 'Role in the phenotype of' some 'Familial adenomatous polyposis due to 5q22.2 microdeletion' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' - 'adenomatous polyposis coli' SubClassOf 'gene' + 'adenomatous polyposis coli' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'APC-related attenuated familial adenomatous polyposis' + 'adenomatous polyposis coli' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gardner syndrome' + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Turcot syndrome with polyposis' + 'adenomatous polyposis coli' SubClassOf 'Role in the phenotype of' some 'Familial adenomatous polyposis due to 5q22.2 microdeletion' + 'adenomatous polyposis coli' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' Class: http://www.orpha.net/ORDO/Orphanet_371861 Label: Genetic hyperaldosteronism - 'Genetic hyperaldosteronism' SubClassOf 'group of disorders' + 'Genetic hyperaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251877 Label: Ganglioneuroblastoma - 'Ganglioneuroblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ganglioneuroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ganglioneuroblastoma' SubClassOf 'disease' + 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ganglioneuroblastoma' SubClassOf 'disease' + 'Ganglioneuroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_231445 Label: Paraparetic variant of Guillain-Barr� syndrome - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'disease' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'disease' + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85448 Label: Familial amyloidosis, Finnish type - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Rare hereditary systemic disease with peripheral neuropathy' - 'Familial amyloidosis, Finnish type' SubClassOf 'disease' - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Amyloidosis' - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial amyloidosis, Finnish type' SubClassOf 'disease' + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial amyloidosis, Finnish type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85447 Label: Familial amyloid polyneuropathy - 'Familial amyloid polyneuropathy' SubClassOf 'disease' - 'Familial amyloid polyneuropathy' SubClassOf 'part_of' some 'Familial transthyretin-related amyloidosis' - 'Familial amyloid polyneuropathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial amyloid polyneuropathy' SubClassOf 'part_of' some 'Rare hereditary systemic disease with peripheral neuropathy' - 'Familial amyloid polyneuropathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial amyloid polyneuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial amyloid polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial transthyretin-related amyloidosis' + 'Familial amyloid polyneuropathy' SubClassOf 'disease' + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial amyloid polyneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial amyloid polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "90.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "97.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85446 Label: Dialysis-related amyloidosis - 'Dialysis-related amyloidosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Dialysis-related amyloidosis' SubClassOf 'disease' - 'Dialysis-related amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Dialysis-related amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Dialysis-related amyloidosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Dialysis-related amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dialysis-related amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dialysis-related amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Dialysis-related amyloidosis' SubClassOf 'disease' + 'Dialysis-related amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_163727 Label: Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp - 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'disease' + 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85453 Label: X-linked reticulate pigmentary disorder with systemic manifestations - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Rare systemic disease' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'disease' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_85451 Label: Transthyretin-related familial amyloid cardiomyopathy - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'disease' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'part_of' some 'Familial transthyretin-related amyloidosis' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'disease' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial transthyretin-related amyloidosis' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_85450 Label: Familial renal amyloidosis - 'Familial renal amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Genetic glomerular disease' - 'Familial renal amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Familial renal amyloidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Familial renal amyloidosis' SubClassOf 'disease' + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic glomerular disease' + 'Familial renal amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Familial renal amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Familial renal amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251883 Label: Medulloepithelioma - 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Medulloepithelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Medulloepithelioma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Medulloepithelioma' SubClassOf 'disease' + 'Medulloepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Medulloepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Medulloepithelioma' SubClassOf 'disease' + 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_404774 Label: presequence translocase-associated motor 16 homolog (S. cerevisiae) - 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' - 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'gene' + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_304263 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 17 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251880 Label: Ependymoblastoma - 'Ependymoblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ependymoblastoma' SubClassOf 'disease' - 'Ependymoblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ependymoblastoma' SubClassOf 'disease' + 'Ependymoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ependymoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' Class: http://www.orpha.net/ORDO/Orphanet_365159 Label: seryl-tRNA synthetase 2, mitochondrial - 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' + 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' + 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_317398 Label: tumor necrosis factor (ligand) superfamily, member 15 - 'tumor necrosis factor (ligand) superfamily, member 15' SubClassOf 'gene' - 'tumor necrosis factor (ligand) superfamily, member 15' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'tumor necrosis factor (ligand) superfamily, member 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q32"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor (ligand) superfamily, member 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor necrosis factor (ligand) superfamily, member 15' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' Class: http://www.orpha.net/ORDO/Orphanet_231457 Label: Acute pandysautonomia - 'Acute pandysautonomia' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Acute pandysautonomia' SubClassOf 'disease' - 'Acute pandysautonomia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute pandysautonomia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute pandysautonomia' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute pandysautonomia' SubClassOf 'disease' + 'Acute pandysautonomia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute pandysautonomia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute pandysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' + 'Acute pandysautonomia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_85458 Label: Hereditary cerebral hemorrhage with amyloidosis - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'disease' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'part_of' some 'Genetic cerebrovascular dementia' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'part_of' some 'Cerebrovascular dementia' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'disease' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrovascular dementia' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_231450 Label: Acute pure sensory neuropathy - 'Acute pure sensory neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute pure sensory neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute pure sensory neuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute pure sensory neuropathy' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Acute pure sensory neuropathy' SubClassOf 'disease' + 'Acute pure sensory neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute pure sensory neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute pure sensory neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute pure sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' + 'Acute pure sensory neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254685 Label: Gestational trophoblastic disease - 'Gestational trophoblastic disease' SubClassOf 'group of disorders' + 'Gestational trophoblastic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284180 Label: Xp22.13p22.2 duplication syndrome - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'malformation syndrome' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome X' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Xp22.13p22.2 duplication syndrome' SubClassOf 'malformation syndrome' + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome X' + 'Xp22.13p22.2 duplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xp22.13p22.2 duplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_254688 Label: Complete hydatidiform mole - 'Complete hydatidiform mole' SubClassOf 'part_of' some 'Hydatidiform mole' - 'Complete hydatidiform mole' SubClassOf 'clinical subtype' - 'Complete hydatidiform mole' SubClassOf 'has_prevalence' some 'Unknown' - 'Complete hydatidiform mole' SubClassOf 'has_inheritance' some 'sporadic' - 'Complete hydatidiform mole' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Complete hydatidiform mole' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Complete hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Complete hydatidiform mole' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Complete hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hydatidiform mole' + 'Complete hydatidiform mole' SubClassOf 'clinical subtype' + 'Complete hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_317394 Label: LIM homeobox 1 - 'LIM homeobox 1' SubClassOf 'gene' - 'LIM homeobox 1' SubClassOf 'Role in the phenotype of' some '17q12 microdeletion syndrome' - 'LIM homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' - 'LIM homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' + 'LIM homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox 1' SubClassOf 'Role in the phenotype of' some '17q12 microdeletion syndrome' + 'LIM homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' + 'LIM homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' Class: http://www.orpha.net/ORDO/Orphanet_251896 Label: Choroid plexus tumor - 'Choroid plexus tumor' SubClassOf 'group of disorders' + 'Choroid plexus tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404789 Label: hedgehog acyltransferase - 'hedgehog acyltransferase' SubClassOf 'gene' - 'hedgehog acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia - disorder of sex development' + 'hedgehog acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Chondrodysplasia - disorder of sex development' + 'hedgehog acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hedgehog acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_164736 Label: Familial advanced sleep-phase syndrome - 'Familial advanced sleep-phase syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial advanced sleep-phase syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Familial advanced sleep-phase syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial advanced sleep-phase syndrome' SubClassOf 'part_of' some 'Sleep disorder' - 'Familial advanced sleep-phase syndrome' SubClassOf 'disease' + 'Familial advanced sleep-phase syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial advanced sleep-phase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Familial advanced sleep-phase syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial advanced sleep-phase syndrome' SubClassOf 'disease' + 'Familial advanced sleep-phase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' Class: http://www.orpha.net/ORDO/Orphanet_304247 Label: CD151 molecule (Raph blood group) - 'CD151 molecule (Raph blood group)' SubClassOf 'gene' - 'CD151 molecule (Raph blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' + 'CD151 molecule (Raph blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD151 molecule (Raph blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' + 'CD151 molecule (Raph blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231426 Label: Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome - 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'part_of' some 'Regional variant of Guillain-Barr� syndrome' - 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'disease' - 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Regional variant of Guillain-Barr� syndrome' + 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'disease' + 'Pharyngeal-cervical-brachial variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_304242 Label: triadin - 'triadin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'triadin' SubClassOf 'gene' + 'triadin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'triadin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'triadin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231422 Label: forkhead box I1 - 'forkhead box I1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' - 'forkhead box I1' SubClassOf 'gene' + 'forkhead box I1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' + 'forkhead box I1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box I1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_400438 Label: phosphatidylinositol glycan anchor biosynthesis, class W - 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf 'gene' - 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231416 Label: Regional variant of Guillain-Barr� syndrome - 'Regional variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Regional variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Regional variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Regional variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Regional variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_231419 Label: Functional variant of Guillain-Barr� syndrome - 'Functional variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Functional variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Functional variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Functional variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Functional variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_330340 Label: serum amyloid A1 - 'serum amyloid A1' SubClassOf 'gene' - 'serum amyloid A1' SubClassOf 'Major susceptibility factor in' some 'Secondary amyloidosis' + 'serum amyloid A1' SubClassOf 'Major susceptibility factor in' some 'Secondary amyloidosis' + 'serum amyloid A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serum amyloid A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_163746 Label: Neurologic Waardenburg-Shah syndrome - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Leukodystrophy' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'disease' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'disease' + 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_300208 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 1 - 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf 'gene' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial short QT syndrome' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210548 Label: Macrocephaly-autism syndrome - 'Macrocephaly-autism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Macrocephaly-autism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Macrocephaly-autism syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Macrocephaly-autism syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Macrocephaly-autism syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - 'Macrocephaly-autism syndrome' SubClassOf 'disease' - 'Macrocephaly-autism syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Macrocephaly-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Macrocephaly-autism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Macrocephaly-autism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Macrocephaly-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Macrocephaly-autism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Macrocephaly-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Macrocephaly-autism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Macrocephaly-autism syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_300201 Label: phosphoinositide-3-kinase, regulatory subunit 5 - 'phosphoinositide-3-kinase, regulatory subunit 5' SubClassOf 'gene' - 'phosphoinositide-3-kinase, regulatory subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with axonal neuropathy type 2' + 'phosphoinositide-3-kinase, regulatory subunit 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoinositide-3-kinase, regulatory subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with axonal neuropathy type 2' + 'phosphoinositide-3-kinase, regulatory subunit 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_400443 Label: DnaJ (Hsp40) homolog, subfamily C, member 13 - 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Young adult-onset Parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85408 Label: Juvenile rheumatoid factor-negative polyarthritis - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'disease' - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'part_of' some 'Juvenile polyarthritis' - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'disease' + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile polyarthritis' Class: http://www.orpha.net/ORDO/Orphanet_324999 Label: JMP syndrome - 'JMP syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'JMP syndrome' SubClassOf 'part_of' some 'Proteasome disability syndrome' - 'JMP syndrome' SubClassOf 'clinical subtype' - 'JMP syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'JMP syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'JMP syndrome' SubClassOf 'clinical subtype' + 'JMP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proteasome disability syndrome' + 'JMP syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'JMP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'JMP syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_231401 Label: Alpha-thalassemia - myelodysplastic syndrome - 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'part_of' some 'Alpha-thalassemia-related diseases' - 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'disease' - 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia-related diseases' + 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'disease' + 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_406910 Label: LAS1-like (S. cerevisiae) - 'LAS1-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 2' - 'LAS1-like (S. cerevisiae)' SubClassOf 'gene' + 'LAS1-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 2' + 'LAS1-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12"^^http://www.w3.org/2001/XMLSchema#string + 'LAS1-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85410 Label: Oligoarticular juvenile arthritis - 'Oligoarticular juvenile arthritis' SubClassOf 'disease' - 'Oligoarticular juvenile arthritis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Oligoarticular juvenile arthritis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Oligoarticular juvenile arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Oligoarticular juvenile arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Oligoarticular juvenile arthritis' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' + 'Oligoarticular juvenile arthritis' SubClassOf 'disease' + 'Oligoarticular juvenile arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Oligoarticular juvenile arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Oligoarticular juvenile arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Oligoarticular juvenile arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oligoarticular juvenile arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_85414 Label: Systemic-onset juvenile idiopathic arthritis - 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'disease' - 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'disease' + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_320815 Label: signal transducer and activator of transcription 4 - 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' - 'signal transducer and activator of transcription 4' SubClassOf 'gene' - 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' + 'signal transducer and activator of transcription 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.2-q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 4' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_49042 Label: Dentinogenesis imperfecta - 'Dentinogenesis imperfecta' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Dentinogenesis imperfecta' SubClassOf 'group of disorders' - 'Dentinogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dentinogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dentinogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dentinogenesis imperfecta' SubClassOf 'group of disorders' + 'Dentinogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentinogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_304234 Label: RAD21 homolog (S. pombe) - 'RAD21 homolog (S. pombe)' SubClassOf 'gene' - 'RAD21 homolog (S. pombe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' + 'RAD21 homolog (S. pombe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD21 homolog (S. pombe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'RAD21 homolog (S. pombe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' Class: http://www.orpha.net/ORDO/Orphanet_164726 Label: Acute myeloid leukemia and myelodysplastic syndromes related to radiation - 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf 'disease' - 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf 'part_of' some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' + 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf 'disease' + 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231413 Label: Variant of Guillain-Barr� syndrome - 'Variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Variant of Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_49041 Label: Retroperitoneal fibrosis - 'Retroperitoneal fibrosis' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Retroperitoneal fibrosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Retroperitoneal fibrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Retroperitoneal fibrosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Retroperitoneal fibrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retroperitoneal fibrosis' SubClassOf 'disease' + 'Retroperitoneal fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Retroperitoneal fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Retroperitoneal fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retroperitoneal fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Retroperitoneal fibrosis' SubClassOf 'disease' + 'Retroperitoneal fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Retroperitoneal fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Retroperitoneal fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_333104 Label: crystallin, gamma B - 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' - 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, gamma B' SubClassOf 'gene' + 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' + 'crystallin, gamma B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, gamma B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, gamma B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2779 Label: Osteopathia striata - pigmentary dermopathy - white forelock - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'malformation syndrome' - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'malformation syndrome' + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2777 Label: Osteomesopyknosis - 'Osteomesopyknosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteomesopyknosis' SubClassOf 'malformation syndrome' - 'Osteomesopyknosis' SubClassOf 'part_of' some 'Osteopetrosis' + 'Osteomesopyknosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Osteomesopyknosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteomesopyknosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123433 Label: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria - 'methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria' SubClassOf 'gene' - 'methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblC' + 'methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblC' Class: http://www.orpha.net/ORDO/Orphanet_2776 Label: Autosomal recessive distal osteolysis syndrome - 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'part_of' some 'Primary osteolysis' - 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'malformation syndrome' - 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'malformation syndrome' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123439 Label: matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) - 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Torg-Winchester syndrome' - 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodulosis-arthropathy-osteolysis syndrome' - 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf 'gene' + 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Torg-Winchester syndrome' + 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13-q21"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodulosis-arthropathy-osteolysis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2773 Label: Osteogenesis imperfecta - retinopathy - seizures - intellectual disability - 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'malformation syndrome' - 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'malformation syndrome' + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_123436 Label: matrix metallopeptidase 13 (collagenase 3) - 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'gene' - 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal anadysplasia' - 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, Missouri type' - 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Spahr type' + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Metaphyseal anadysplasia' + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, Missouri type' + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metaphyseal chondrodysplasia, Spahr type' + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metaphyseal anadysplasia' + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2774 Label: Multicentric carpo-tarsal osteolysis with or without nephropathy - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'malformation syndrome' - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'part_of' some 'Primary osteolysis' + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'malformation syndrome' + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2771 Label: Bruck syndrome - 'Bruck syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bruck syndrome' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Bruck syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bruck syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Bruck syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bruck syndrome' SubClassOf 'malformation syndrome' + 'Bruck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bruck syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bruck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bruck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bruck syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bruck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Bruck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Bruck syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95232 Label: Lissencephaly due to LIS1 mutation - 'Lissencephaly due to LIS1 mutation' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Lissencephaly due to LIS1 mutation' SubClassOf 'disease' + 'Lissencephaly due to LIS1 mutation' SubClassOf 'disease' + 'Lissencephaly due to LIS1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2772 Label: Congenital osteogenesis imperfecta - microcephaly - cataracts - 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'malformation syndrome' + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262672 Label: Partial duplication of chromosome 16 - 'Partial duplication of chromosome 16' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2770 Label: Nasu-Hakola disease - 'Nasu-Hakola disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nasu-Hakola disease' SubClassOf 'malformation syndrome' - 'Nasu-Hakola disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Nasu-Hakola disease' SubClassOf 'part_of' some 'Primary osteolysis' - 'Nasu-Hakola disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nasu-Hakola disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Nasu-Hakola disease' SubClassOf 'malformation syndrome' + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Nasu-Hakola disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Nasu-Hakola disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Nasu-Hakola disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nasu-Hakola disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Nasu-Hakola disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_262677 Label: Partial duplication of chromosome 17 - 'Partial duplication of chromosome 17' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123431 Label: sclerostin - 'sclerostin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniodiaphyseal dysplasia' - 'sclerostin' SubClassOf 'Role in the phenotype of' some 'Hyperostosis corticalis generalisata' - 'sclerostin' SubClassOf 'gene' - 'sclerostin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sclerosteosis' + 'sclerostin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12-q21"^^http://www.w3.org/2001/XMLSchema#string + 'sclerostin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniodiaphyseal dysplasia' + 'sclerostin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sclerostin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sclerosteosis' + 'sclerostin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperostosis corticalis generalisata' Class: http://www.orpha.net/ORDO/Orphanet_319552 Label: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_307804 Label: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319558 Label: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_211237 Label: Vascular tumor - 'Vascular tumor' SubClassOf 'group of disorders' + 'Vascular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189127 Label: latent transforming growth factor beta binding protein 3 - 'latent transforming growth factor beta binding protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'latent transforming growth factor beta binding protein 3' SubClassOf 'gene' + 'latent transforming growth factor beta binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12"^^http://www.w3.org/2001/XMLSchema#string + 'latent transforming growth factor beta binding protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'latent transforming growth factor beta binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2788 Label: Osteoporosis - pseudoglioma - 'Osteoporosis - pseudoglioma' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Osteoporosis - pseudoglioma' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Osteoporosis - pseudoglioma' SubClassOf 'disease' - 'Osteoporosis - pseudoglioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteoporosis - pseudoglioma' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Osteoporosis - pseudoglioma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteoporosis - pseudoglioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Osteoporosis - pseudoglioma' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteoporosis - pseudoglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Osteoporosis - pseudoglioma' SubClassOf 'disease' + 'Osteoporosis - pseudoglioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteoporosis - pseudoglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteoporosis - pseudoglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteoporosis - pseudoglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Osteoporosis - pseudoglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteoporosis - pseudoglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2789 Label: Lateral meningocele syndrome - 'Lateral meningocele syndrome' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Lateral meningocele syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lateral meningocele syndrome' SubClassOf 'malformation syndrome' - 'Lateral meningocele syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lateral meningocele syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Lateral meningocele syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Lateral meningocele syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lateral meningocele syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Lateral meningocele syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lateral meningocele syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Lateral meningocele syndrome' SubClassOf 'malformation syndrome' + 'Lateral meningocele syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lateral meningocele syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_270465 Label: coiled-coil domain containing 8 - 'coiled-coil domain containing 8' SubClassOf 'gene' - 'coiled-coil domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' + 'coiled-coil domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' + 'coiled-coil domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123447 Label: molybdenum cofactor sulfurase - 'molybdenum cofactor sulfurase' SubClassOf 'gene' - 'molybdenum cofactor sulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xanthinuria type II' + 'molybdenum cofactor sulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xanthinuria type II' + 'molybdenum cofactor sulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12"^^http://www.w3.org/2001/XMLSchema#string + 'molybdenum cofactor sulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2785 Label: Osteopetrosis with renal tubular acidosis - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteopetrosis with renal tubular acidosis' SubClassOf 'disease' + 'Osteopetrosis with renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteopetrosis with renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteopetrosis with renal tubular acidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteopetrosis with renal tubular acidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2786 Label: Osteoporosis - oculocutaneous hypopigmentation syndrome - 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'malformation syndrome' - 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'malformation syndrome' + 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2787 Label: Osteoporosis - macrocephaly - blindness - joint hyperlaxity - 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'malformation syndrome' - 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'malformation syndrome' + 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2780 Label: Osteopathia striata - cranial sclerosis - 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Osteopathia striata - cranial sclerosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopathia striata - cranial sclerosis' SubClassOf 'malformation syndrome' + 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Osteopathia striata - cranial sclerosis' SubClassOf 'malformation syndrome' + 'Osteopathia striata - cranial sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteopathia striata - cranial sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Osteopathia striata - cranial sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_262682 Label: Partial trisomy/tetrasomy of chromosome 18 - 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2781 Label: Osteopetrosis - 'Osteopetrosis' SubClassOf 'group of disorders' + 'Osteopetrosis' SubClassOf 'group of disorders' + 'Osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2783 Label: Autosomal dominant osteopetrosis type 1 - 'Autosomal dominant osteopetrosis type 1' SubClassOf 'part_of' some 'Osteopetrosis' - 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant osteopetrosis type 1' SubClassOf 'malformation syndrome' - 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant osteopetrosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant osteopetrosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant osteopetrosis type 1' SubClassOf 'malformation syndrome' + 'Autosomal dominant osteopetrosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_276598 Label: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'part_of' some 'Diazoxide-resistant focal hyperinsulinism' - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-resistant focal hyperinsulinism' + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_319563 Label: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_159197 Label: CD3d molecule, delta (CD3-TCR complex) - 'CD3d molecule, delta (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' - 'CD3d molecule, delta (CD3-TCR complex)' SubClassOf 'gene' + 'CD3d molecule, delta (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' + 'CD3d molecule, delta (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'CD3d molecule, delta (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262687 Label: Partial duplication of chromosome 19 - 'Partial duplication of chromosome 19' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_51083 Label: Familial short QT syndrome - 'Familial short QT syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial short QT syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Familial short QT syndrome' SubClassOf 'disease' - 'Familial short QT syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial short QT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial short QT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial short QT syndrome' SubClassOf 'disease' + 'Familial short QT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Familial short QT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_159194 Label: DnaJ (Hsp40) homolog, subfamily C, member 30 - 'DnaJ (Hsp40) homolog, subfamily C, member 30' SubClassOf 'gene' - 'DnaJ (Hsp40) homolog, subfamily C, member 30' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_51084 Label: Torsade-de-pointes syndrome with short coupling interval - 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'disease' + 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159192 Label: actinin, alpha 2 - 'actinin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'actinin, alpha 2' SubClassOf 'gene' + 'actinin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actinin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'actinin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42-q43"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319569 Label: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'disease' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'disease' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_355473 Label: cerebellin 2 precursor - 'cerebellin 2 precursor' SubClassOf 'Major susceptibility factor in' some 'Heritable pulmonary arterial hypertension' - 'cerebellin 2 precursor' SubClassOf 'gene' - 'cerebellin 2 precursor' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' + 'cerebellin 2 precursor' SubClassOf 'Major susceptibility factor in' some 'Heritable pulmonary arterial hypertension' + 'cerebellin 2 precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'cerebellin 2 precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cerebellin 2 precursor' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_2753 Label: Orofaciodigital syndrome type 4 - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Thoracic malformation' - 'Orofaciodigital syndrome type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Short rib dysplasia' - 'Orofaciodigital syndrome type 4' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 4' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Orofaciodigital syndrome type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 4' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib dysplasia' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Orofaciodigital syndrome type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2754 Label: Joubert syndrome with orofaciodigital defect - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease' + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Joubert syndrome with orofaciodigital defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178563 Label: Primary cutaneous B-cell lymphoma - 'Primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' + 'Primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397922 Label: Ferro-cerebro-cutaneous syndrome - 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'disease' - 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_2751 Label: Orofaciodigital syndrome type 2 - 'Orofaciodigital syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 2' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 2' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 2' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Orofaciodigital syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 2' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 2' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 2' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123458 Label: mannose-P-dolichol utilization defect 1 - 'mannose-P-dolichol utilization defect 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MPDU1-CDG' - 'mannose-P-dolichol utilization defect 1' SubClassOf 'gene' + 'mannose-P-dolichol utilization defect 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannose-P-dolichol utilization defect 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1-p12"^^http://www.w3.org/2001/XMLSchema#string + 'mannose-P-dolichol utilization defect 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MPDU1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2752 Label: Orofaciodigital syndrome type 3 - 'Orofaciodigital syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Orofaciodigital syndrome type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 3' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Orofaciodigital syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 3' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_276580 Label: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' - 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2755 Label: Orofaciodigital syndrome type 8 - 'Orofaciodigital syndrome type 8' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 8' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 8' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 8' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 8' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Orofaciodigital syndrome type 8' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 8' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Orofaciodigital syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 8' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2756 Label: Orofaciodigital syndrome type 10 - 'Orofaciodigital syndrome type 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 10' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 10' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_123455 Label: molybdenum cofactor synthesis 2 - 'molybdenum cofactor synthesis 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' - 'molybdenum cofactor synthesis 2' SubClassOf 'gene' + 'molybdenum cofactor synthesis 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'molybdenum cofactor synthesis 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' + 'molybdenum cofactor synthesis 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123452 Label: molybdenum cofactor synthesis 1 - 'molybdenum cofactor synthesis 1' SubClassOf 'gene' - 'molybdenum cofactor synthesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' + 'molybdenum cofactor synthesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'molybdenum cofactor synthesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' + 'molybdenum cofactor synthesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319574 Label: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'disease' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'disease' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262653 Label: Partial duplication of chromosome 11 - 'Partial duplication of chromosome 11' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178566 Label: Mycosis fungoides and variants - 'Mycosis fungoides and variants' SubClassOf 'group of disorders' + 'Mycosis fungoides and variants' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycosis fungoides and variants' SubClassOf 'group of disorders' + 'Mycosis fungoides and variants' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Mycosis fungoides and variants' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_2750 Label: Orofaciodigital syndrome type 1 - 'Orofaciodigital syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Orofaciodigital syndrome type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Orofaciodigital syndrome type 1' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Genetic sebaceous gland anomaly' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Sebaceous gland anomaly' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Orofaciodigital syndrome type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Orofaciodigital syndrome type 1' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 1' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Orofaciodigital syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic sebaceous gland anomaly' + 'Orofaciodigital syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 1' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sebaceous gland anomaly' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Orofaciodigital syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Orofaciodigital syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_276585 Label: Diazoxide-resistant hyperinsulinism - 'Diazoxide-resistant hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-resistant hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159181 Label: pericentrin - 'pericentrin' SubClassOf 'Candidate gene tested in' some 'Seckel syndrome' - 'pericentrin' SubClassOf 'gene' - 'pericentrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism type II' + 'pericentrin' SubClassOf 'Candidate gene tested in' some 'Seckel syndrome' + 'pericentrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pericentrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'pericentrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism type II' Class: http://www.orpha.net/ORDO/Orphanet_262648 Label: Partial duplication of chromosome 10 - 'Partial duplication of chromosome 10' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2749 Label: Oromandibular-limb hypogenesis syndrome - 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'group of disorders' + 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'group of disorders' + 'Oromandibular-limb hypogenesis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_270424 Label: protein tyrosine phosphatase, receptor type, O - 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' - 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' - 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' - 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'gene' + 'protein tyrosine phosphatase, receptor type, O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'protein tyrosine phosphatase, receptor type, O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' + 'protein tyrosine phosphatase, receptor type, O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2762 Label: Progressive osseous heteroplasia - 'Progressive osseous heteroplasia' SubClassOf 'malformation syndrome' - 'Progressive osseous heteroplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive osseous heteroplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' - 'Progressive osseous heteroplasia' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Progressive osseous heteroplasia' SubClassOf 'part_of' some 'Unclassified dermis disorder' + 'Progressive osseous heteroplasia' SubClassOf 'malformation syndrome' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Progressive osseous heteroplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2763 Label: Osteocraniostenosis - 'Osteocraniostenosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteocraniostenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteocraniostenosis' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Osteocraniostenosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteocraniostenosis' SubClassOf 'malformation syndrome' + 'Osteocraniostenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteocraniostenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'Osteocraniostenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteocraniostenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Osteocraniostenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteocraniostenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2764 Label: Osteochondritis dissecans - 'Osteochondritis dissecans' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Osteochondritis dissecans' SubClassOf 'disease' - 'Osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Osteochondritis dissecans' SubClassOf 'part_of' some 'Osteonecrosis' + 'Osteochondritis dissecans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis' + 'Osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Osteochondritis dissecans' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_270442 Label: diablo, IAP-binding mitochondrial protein - 'diablo, IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'diablo, IAP-binding mitochondrial protein' SubClassOf 'gene' + 'diablo, IAP-binding mitochondrial protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'diablo, IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diablo, IAP-binding mitochondrial protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123465 Label: MPL proto-oncogene, thrombopoietin receptor - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital amegakaryocytic thrombocytopenia' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'gene' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombocytosis' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary aplastic anemia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital amegakaryocytic thrombocytopenia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary aplastic anemia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombocytosis' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2767 Label: Carpotarsal osteochondromatosis - 'Carpotarsal osteochondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carpotarsal osteochondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Carpotarsal osteochondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Carpotarsal osteochondromatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Carpotarsal osteochondromatosis' SubClassOf 'malformation syndrome' + 'Carpotarsal osteochondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Carpotarsal osteochondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carpotarsal osteochondromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Carpotarsal osteochondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Carpotarsal osteochondromatosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2768 Label: Blount disease - 'Blount disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blount disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Blount disease' SubClassOf 'malformation syndrome' - 'Blount disease' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Blount disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Blount disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Blount disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Blount disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blount disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2769 Label: Familial osteodysplasia, Anderson type - 'Familial osteodysplasia, Anderson type' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Familial osteodysplasia, Anderson type' SubClassOf 'malformation syndrome' + 'Familial osteodysplasia, Anderson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Familial osteodysplasia, Anderson type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123468 Label: myeloperoxidase - 'myeloperoxidase' SubClassOf 'gene' - 'myeloperoxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myeloperoxidase deficiency' + 'myeloperoxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myeloperoxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myeloperoxidase deficiency' + 'myeloperoxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.3-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93172 Label: Unilateral renal dysplasia - 'Unilateral renal dysplasia' SubClassOf 'clinical subtype' - 'Unilateral renal dysplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Unilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Unilateral renal dysplasia' SubClassOf 'part_of' some 'Renal dysplasia' + 'Unilateral renal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Unilateral renal dysplasia' SubClassOf 'clinical subtype' + 'Unilateral renal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Unilateral renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal dysplasia' + 'Unilateral renal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Unilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_123463 Label: mannose phosphate isomerase - 'mannose phosphate isomerase' SubClassOf 'gene' - 'mannose phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MPI-CDG' + 'mannose phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'mannose phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MPI-CDG' + 'mannose phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93173 Label: Bilateral renal dysplasia - 'Bilateral renal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Bilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bilateral renal dysplasia' SubClassOf 'part_of' some 'Renal dysplasia' - 'Bilateral renal dysplasia' SubClassOf 'clinical subtype' + 'Bilateral renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal dysplasia' + 'Bilateral renal dysplasia' SubClassOf 'clinical subtype' + 'Bilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_93176 Label: Unilateral congenital megacalycosis - 'Unilateral congenital megacalycosis' SubClassOf 'part_of' some 'Congenital megacalycosis' - 'Unilateral congenital megacalycosis' SubClassOf 'clinical subtype' + 'Unilateral congenital megacalycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital megacalycosis' + 'Unilateral congenital megacalycosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_319581 Label: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'disease' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'part_of' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'disease' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_276575 Label: Autosomal dominant hyperinsulinism due to SUR1 deficiency - 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' - 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93178 Label: Partial prune belly syndrome - 'Partial prune belly syndrome' SubClassOf 'clinical subtype' - 'Partial prune belly syndrome' SubClassOf 'part_of' some 'Prune belly syndrome' + 'Partial prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prune belly syndrome' + 'Partial prune belly syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2760 Label: OSLAM syndrome - 'OSLAM syndrome' SubClassOf 'part_of' some 'Rare bone tumor' - 'OSLAM syndrome' SubClassOf 'part_of' some 'Genetic bone tumor' - 'OSLAM syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'OSLAM syndrome' SubClassOf 'malformation syndrome' + 'OSLAM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'OSLAM syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'OSLAM syndrome' SubClassOf 'malformation syndrome' + 'OSLAM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_93177 Label: Congenital bilateral megacalycosis - 'Congenital bilateral megacalycosis' SubClassOf 'part_of' some 'Congenital megacalycosis' - 'Congenital bilateral megacalycosis' SubClassOf 'clinical subtype' + 'Congenital bilateral megacalycosis' SubClassOf 'clinical subtype' + 'Congenital bilateral megacalycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital megacalycosis' Class: http://www.orpha.net/ORDO/Orphanet_159178 Label: stereocilin - 'stereocilin' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' - 'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'stereocilin' SubClassOf 'gene' + 'stereocilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.3"^^http://www.w3.org/2001/XMLSchema#string + 'stereocilin' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' + 'stereocilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_159172 Label: fermitin family member 1 - 'fermitin family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kindler syndrome' - 'fermitin family member 1' SubClassOf 'gene' - 'fermitin family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary acrokeratotic poikiloderma, Weary type' + 'fermitin family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kindler syndrome' + 'fermitin family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'fermitin family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary acrokeratotic poikiloderma, Weary type' + 'fermitin family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319589 Label: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'disease' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'part_of' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'disease' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262658 Label: Partial trisomy/tetrasomy of the short arm of chromosome 12 - 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377556 Label: phosphatidylinositol-5-phosphate 4-kinase, type II, alpha - 'phosphatidylinositol-5-phosphate 4-kinase, type II, alpha' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'phosphatidylinositol-5-phosphate 4-kinase, type II, alpha' SubClassOf 'gene' + 'phosphatidylinositol-5-phosphate 4-kinase, type II, alpha' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'phosphatidylinositol-5-phosphate 4-kinase, type II, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-5-phosphate 4-kinase, type II, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2759 Label: Imperforate oropharynx - costo vetebral anomalies - 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'malformation syndrome' + 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'malformation syndrome' + 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_355492 Label: ankyrin repeat domain 55 - 'ankyrin repeat domain 55' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'ankyrin repeat domain 55' SubClassOf 'gene' - 'ankyrin repeat domain 55' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'ankyrin repeat domain 55' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin repeat domain 55' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'ankyrin repeat domain 55' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat domain 55' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' Class: http://www.orpha.net/ORDO/Orphanet_123470 Label: MpV17 mitochondrial inner membrane protein - 'MpV17 mitochondrial inner membrane protein' SubClassOf 'gene' - 'MpV17 mitochondrial inner membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Navajo neurohepatopathy' + 'MpV17 mitochondrial inner membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Navajo neurohepatopathy' + 'MpV17 mitochondrial inner membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MpV17 mitochondrial inner membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178544 Label: Primary cutaneous diffuse large B-cell lymphoma, leg type - 'Primary cutaneous diffuse large B-cell lymphoma, leg type' SubClassOf 'disease' - 'Primary cutaneous diffuse large B-cell lymphoma, leg type' SubClassOf 'part_of' some 'Aggressive primary cutaneous B-cell lymphoma' + 'Primary cutaneous diffuse large B-cell lymphoma, leg type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous B-cell lymphoma' + 'Primary cutaneous diffuse large B-cell lymphoma, leg type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93164 Label: Transient pseudohypoaldosteronism - 'Transient pseudohypoaldosteronism' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Transient pseudohypoaldosteronism' SubClassOf 'malformation syndrome' + 'Transient pseudohypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Transient pseudohypoaldosteronism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404762 Label: adenylate cyclase 1 (brain) - 'adenylate cyclase 1 (brain)' SubClassOf 'gene' - 'adenylate cyclase 1 (brain)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'adenylate cyclase 1 (brain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate cyclase 1 (brain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'adenylate cyclase 1 (brain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319595 Label: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'part_of' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' - 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_178548 Label: Indolent primary cutaneous T-cell lymphoma - 'Indolent primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' + 'Indolent primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93160 Label: Hypocalcemic vitamin D-resistant rickets - 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'part_of' some 'Hypocalcemic rickets' - 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'disease' - 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_prevalence' some 'Unknown' + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'disease' + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypocalcemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_123473 Label: myelin protein zero - 'myelin protein zero' SubClassOf 'gene' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1B' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' - 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' + 'myelin protein zero' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1B' + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' + 'myelin protein zero' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' + 'myelin protein zero' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' Class: http://www.orpha.net/ORDO/Orphanet_404768 Label: intraflagellar transport 27 - 'intraflagellar transport 27' SubClassOf 'gene' - 'intraflagellar transport 27' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'intraflagellar transport 27' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 27' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'intraflagellar transport 27' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2736 Label: Lethal omphalocele-cleft palate syndrome - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'malformation syndrome' - 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'malformation syndrome' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123478 Label: melanocortin 2 receptor accessory protein - 'melanocortin 2 receptor accessory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' - 'melanocortin 2 receptor accessory protein' SubClassOf 'gene' + 'melanocortin 2 receptor accessory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'melanocortin 2 receptor accessory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'melanocortin 2 receptor accessory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' Class: http://www.orpha.net/ORDO/Orphanet_308573 Label: Glycogen storage disease due to acid maltase deficiency, juvenile onset - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'part_of' some 'Glycogen storage disease due to acid maltase deficiency' - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_prevalence' some 'Unknown' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to acid maltase deficiency' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2733 Label: Omodysplasia - 'Omodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Omodysplasia' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Omodysplasia' SubClassOf 'malformation syndrome' - 'Omodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Omodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Omodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Omodysplasia' SubClassOf 'malformation syndrome' + 'Omodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Omodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2732 Label: Olivopontocerebellar atrophy - deafness - 'Olivopontocerebellar atrophy - deafness' SubClassOf 'malformation syndrome' - 'Olivopontocerebellar atrophy - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Olivopontocerebellar atrophy - deafness' SubClassOf 'malformation syndrome' + 'Olivopontocerebellar atrophy - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Olivopontocerebellar atrophy - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2731 Label: Taurodontia - absent teeth - sparse hair - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'malformation syndrome' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Taurodontia - absent teeth - sparse hair' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Taurodontia - absent teeth - sparse hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Taurodontia - absent teeth - sparse hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Taurodontia - absent teeth - sparse hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Taurodontia - absent teeth - sparse hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Taurodontia - absent teeth - sparse hair' SubClassOf 'malformation syndrome' + 'Taurodontia - absent teeth - sparse hair' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Taurodontia - absent teeth - sparse hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178540 Label: Primary cutaneous follicle center lymphoma - 'Primary cutaneous follicle center lymphoma' SubClassOf 'disease' - 'Primary cutaneous follicle center lymphoma' SubClassOf 'part_of' some 'Indolent primary cutaneous B-cell lymphoma' + 'Primary cutaneous follicle center lymphoma' SubClassOf 'disease' + 'Primary cutaneous follicle center lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent primary cutaneous B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_2730 Label: Postaxial tetramelic oligodactyly - 'Postaxial tetramelic oligodactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Postaxial tetramelic oligodactyly' SubClassOf 'malformation syndrome' - 'Postaxial tetramelic oligodactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Postaxial tetramelic oligodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Postaxial tetramelic oligodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Postaxial tetramelic oligodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307846 Label: Isolated focal palmoplantar keratoderma - 'Isolated focal palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Isolated focal palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2728 Label: Blepharophimosis-intellectual disability syndrome, Ohdo type - 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_inheritance' some 'sporadic' - 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'malformation syndrome' - 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'malformation syndrome' + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2729 Label: Okamoto syndrome - 'Okamoto syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Okamoto syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Okamoto syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Okamoto syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Okamoto syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Okamoto syndrome' SubClassOf 'malformation syndrome' + 'Okamoto syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Okamoto syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Okamoto syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Okamoto syndrome' SubClassOf 'malformation syndrome' + 'Okamoto syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_371936 Label: serpin peptidase inhibitor, clade B (ovalbumin), member 7 - 'serpin peptidase inhibitor, clade B (ovalbumin), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma, Nagashima type' - 'serpin peptidase inhibitor, clade B (ovalbumin), member 7' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade B (ovalbumin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade B (ovalbumin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade B (ovalbumin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Palmoplantar keratoderma, Nagashima type' Class: http://www.orpha.net/ORDO/Orphanet_371931 Label: WD repeat domain 34 - 'WD repeat domain 34' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'WD repeat domain 34' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'WD repeat domain 34' SubClassOf 'gene' + 'WD repeat domain 34' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'WD repeat domain 34' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 34' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'WD repeat domain 34' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178554 Label: Aggressive primary cutaneous B-cell lymphoma - 'Aggressive primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' + 'Aggressive primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276556 Label: Hyperinsulinism due to UCP2 deficiency - 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_123483 Label: MRE11 meiotic recombination 11 homolog A (S. cerevisiae) - 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf 'gene' - 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia-telangiectasia-like disorder' - 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia-telangiectasia-like disorder' + 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21"^^http://www.w3.org/2001/XMLSchema#string + 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'MRE11 meiotic recombination 11 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178557 Label: Indolent primary cutaneous B-cell lymphoma - 'Indolent primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' + 'Indolent primary cutaneous B-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2745 Label: Opitz G/BBB syndrome - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Opitz G/BBB syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Opitz G/BBB syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Opitz G/BBB syndrome' SubClassOf 'malformation syndrome' - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Opitz G/BBB syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Opitz G/BBB syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Telecanthus' + 'Opitz G/BBB syndrome' SubClassOf 'malformation syndrome' + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Telecanthus' + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Opitz G/BBB syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Opitz G/BBB syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Opitz G/BBB syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Opitz G/BBB syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Opitz G/BBB syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2744 Label: Horizontal gaze palsy with progressive scoliosis - 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'disease' - 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'disease' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_123487 Label: mutS homolog 2 - 'mutS homolog 2' SubClassOf 'gene' - 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' - 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' + 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'mutS homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'mutS homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutS homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2746 Label: Opsismodysplasia - 'Opsismodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Opsismodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Opsismodysplasia' SubClassOf 'disease' - 'Opsismodysplasia' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Opsismodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Opsismodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Opsismodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Opsismodysplasia' SubClassOf 'disease' + 'Opsismodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Opsismodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2741 Label: Ophthalmomandibulomelic dysplasia - 'Ophthalmomandibulomelic dysplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ophthalmomandibulomelic dysplasia' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Ophthalmomandibulomelic dysplasia' SubClassOf 'malformation syndrome' + 'Ophthalmomandibulomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Ophthalmomandibulomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ophthalmomandibulomelic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2743 Label: Ophthalmoplegia - intellectual disability - lingua scrotalis - 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'malformation syndrome' - 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'malformation syndrome' + 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_178551 Label: Aggressive primary cutaneous T-cell lymphoma - 'Aggressive primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' + 'Aggressive primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2737 Label: Onchocerciasis - 'Onchocerciasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Onchocerciasis' SubClassOf 'part_of' some 'Filariasis' - 'Onchocerciasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Onchocerciasis' SubClassOf 'disease' - 'Onchocerciasis' SubClassOf 'has_inheritance' some 'sporadic' + 'Onchocerciasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Onchocerciasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Onchocerciasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Onchocerciasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Onchocerciasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307837 Label: Focal palmoplantar keratoderma - 'Focal palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Focal palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_357738 Label: zinc finger protein 408 - 'zinc finger protein 408' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'zinc finger protein 408' SubClassOf 'gene' + 'zinc finger protein 408' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'zinc finger protein 408' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 408' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262698 Label: Partial duplication of the short arm of chromosome 2 - 'Partial duplication of the short arm of chromosome 2' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404743 Label: phosphatidylinositol glycan anchor biosynthesis, class Q - 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf 'gene' - 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_284149 Label: Craniosynostosis and dental anomalies - 'Craniosynostosis and dental anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Craniosynostosis and dental anomalies' SubClassOf 'malformation syndrome' - 'Craniosynostosis and dental anomalies' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis and dental anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis and dental anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis and dental anomalies' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Craniosynostosis and dental anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniosynostosis and dental anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis and dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis and dental anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis and dental anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis and dental anomalies' SubClassOf 'malformation syndrome' + 'Craniosynostosis and dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Craniosynostosis and dental anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis and dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_284146 Label: beta-1,3-glucuronyltransferase 3 - 'beta-1,3-glucuronyltransferase 3' SubClassOf 'gene' - 'beta-1,3-glucuronyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Larsen-like syndrome, B3GAT3 type' + 'beta-1,3-glucuronyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12"^^http://www.w3.org/2001/XMLSchema#string + 'beta-1,3-glucuronyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Larsen-like syndrome, B3GAT3 type' + 'beta-1,3-glucuronyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123495 Label: msh homeobox 1 - 'msh homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'msh homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypodontia - dysplasia of nails' - 'msh homeobox 1' SubClassOf 'gene' + 'msh homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'msh homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'msh homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypodontia - dysplasia of nails' + 'msh homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123492 Label: mutS homolog 6 - 'mutS homolog 6' SubClassOf 'gene' - 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' - 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' + 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'mutS homolog 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutS homolog 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16"^^http://www.w3.org/2001/XMLSchema#string + 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutS homolog 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178522 Label: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma - 'Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma' SubClassOf 'part_of' some 'Indolent primary cutaneous T-cell lymphoma' - 'Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma' SubClassOf 'disease' + 'Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent primary cutaneous T-cell lymphoma' + 'Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262692 Label: Partial trisomy of chromosome 20 - 'Partial trisomy of chromosome 20' SubClassOf 'group of disorders' + 'Partial trisomy of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2710 Label: Oculodentodigital dysplasia - 'Oculodentodigital dysplasia' SubClassOf 'malformation syndrome' - 'Oculodentodigital dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oculodentodigital dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Oculodentodigital dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Oculodentodigital dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculodentodigital dysplasia' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' + 'Oculodentodigital dysplasia' SubClassOf 'malformation syndrome' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculodentodigital dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Oculodentodigital dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Oculodentodigital dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculodentodigital dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2714 Label: Oculo-palato-cerebral syndrome - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Oculo-palato-cerebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculo-palato-cerebral syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculo-palato-cerebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculo-palato-cerebral syndrome' SubClassOf 'malformation syndrome' - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Oculo-palato-cerebral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculo-palato-cerebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Oculo-palato-cerebral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculo-palato-cerebral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculo-palato-cerebral syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308552 Label: Glycogen storage disease due to acid maltase deficiency, infantile onset - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'part_of' some 'Glycogen storage disease due to acid maltase deficiency' - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to acid maltase deficiency' + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2713 Label: Oculoosteocutaneous syndrome - 'Oculoosteocutaneous syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculoosteocutaneous syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculoosteocutaneous syndrome' SubClassOf 'malformation syndrome' - 'Oculoosteocutaneous syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Oculoosteocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Oculoosteocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculoosteocutaneous syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculoosteocutaneous syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculoosteocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Oculoosteocutaneous syndrome' SubClassOf 'malformation syndrome' + 'Oculoosteocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2712 Label: Oculofaciocardiodental syndrome - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Oculofaciocardiodental syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Oculofaciocardiodental syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Oculofaciocardiodental syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Oculofaciocardiodental syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oculofaciocardiodental syndrome' SubClassOf 'malformation syndrome' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Oculofaciocardiodental syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Oculofaciocardiodental syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Oculofaciocardiodental syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculofaciocardiodental syndrome' SubClassOf 'malformation syndrome' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2707 Label: Oculocerebrofacial syndrome, Kaufman type - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'malformation syndrome' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'part_of' some 'Developmental defect of the eye' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'malformation syndrome' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_270468 Label: sperm antigen with calponin homology and coiled-coil domains 1-like - 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tessier number 4 facial cleft' - 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf 'gene' - 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' + 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tessier number 4 facial cleft' + 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sperm antigen with calponin homology and coiled-coil domains 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2704 Label: Ochoa syndrome - 'Ochoa syndrome' SubClassOf 'malformation syndrome' - 'Ochoa syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ochoa syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ochoa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ochoa syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Ochoa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ochoa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ochoa syndrome' SubClassOf 'malformation syndrome' + 'Ochoa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_227102 Label: syntaxin binding protein 2 - 'syntaxin binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' - 'syntaxin binding protein 2' SubClassOf 'gene' + 'syntaxin binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'syntaxin binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'syntaxin binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2709 Label: Oculodental syndrome, Rutherfurd type - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oculodental syndrome, Rutherfurd type' SubClassOf 'malformation syndrome' + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculodental syndrome, Rutherfurd type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculodental syndrome, Rutherfurd type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculodental syndrome, Rutherfurd type' SubClassOf 'malformation syndrome' + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_178517 Label: Localized pagetoid reticulosis - 'Localized pagetoid reticulosis' SubClassOf 'disease' - 'Localized pagetoid reticulosis' SubClassOf 'part_of' some 'Mycosis fungoides and variants' - 'Localized pagetoid reticulosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Localized pagetoid reticulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Localized pagetoid reticulosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Localized pagetoid reticulosis' SubClassOf 'disease' + 'Localized pagetoid reticulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Localized pagetoid reticulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Localized pagetoid reticulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_284139 Label: Larsen-like syndrome, B3GAT3 type - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'malformation syndrome' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'malformation syndrome' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_178536 Label: Primary cutaneous marginal zone B-cell lymphoma - 'Primary cutaneous marginal zone B-cell lymphoma' SubClassOf 'disease' - 'Primary cutaneous marginal zone B-cell lymphoma' SubClassOf 'part_of' some 'Indolent primary cutaneous B-cell lymphoma' + 'Primary cutaneous marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent primary cutaneous B-cell lymphoma' + 'Primary cutaneous marginal zone B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_182734 Label: Genetic urticaria - 'Genetic urticaria' SubClassOf 'Rare genetic skin disease' - 'Genetic urticaria' SubClassOf 'group of disorders' + 'Genetic urticaria' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_178533 Label: Primary cutaneous gamma/delta-positive T-cell lymphoma - 'Primary cutaneous gamma/delta-positive T-cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'Primary cutaneous gamma/delta-positive T-cell lymphoma' SubClassOf 'disease' + 'Primary cutaneous gamma/delta-positive T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Primary cutaneous gamma/delta-positive T-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2721 Label: Odonto-onycho-dermal dysplasia - 'Odonto-onycho-dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'disease' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Odonto-onycho-dermal dysplasia' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Odonto-onycho-dermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho-dermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Odonto-onycho-dermal dysplasia' SubClassOf 'disease' + 'Odonto-onycho-dermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2723 Label: Odontotrichomelic syndrome - 'Odontotrichomelic syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Odontotrichomelic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Odontotrichomelic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odontotrichomelic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Odontotrichomelic syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Odontotrichomelic syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Odontotrichomelic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Odontotrichomelic syndrome' SubClassOf 'malformation syndrome' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Odontotrichomelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Odontotrichomelic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odontotrichomelic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Odontotrichomelic syndrome' SubClassOf 'malformation syndrome' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2722 Label: Odonto-onycho dysplasia - alopecia - 'Odonto-onycho dysplasia - alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Odonto-onycho dysplasia - alopecia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Odonto-onycho dysplasia - alopecia' SubClassOf 'malformation syndrome' - 'Odonto-onycho dysplasia - alopecia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho dysplasia - alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho dysplasia - alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho dysplasia - alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Odonto-onycho dysplasia - alopecia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2724 Label: Odontomatosis - aortae esophagus stenosis - 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'malformation syndrome' - 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontomatosis - aortae esophagus stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Odontomatosis - aortae esophagus stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2716 Label: Oculo-skeletal-renal syndrome - 'Oculo-skeletal-renal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Oculo-skeletal-renal syndrome' SubClassOf 'malformation syndrome' + 'Oculo-skeletal-renal syndrome' SubClassOf 'malformation syndrome' + 'Oculo-skeletal-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2717 Label: Oculotrichoanal syndrome - 'Oculotrichoanal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculotrichoanal syndrome' SubClassOf 'malformation syndrome' - 'Oculotrichoanal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Oculotrichoanal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Oculotrichoanal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculotrichoanal syndrome' SubClassOf 'malformation syndrome' + 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2718 Label: Oculotrichodysplasia - 'Oculotrichodysplasia' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Oculotrichodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculotrichodysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Oculotrichodysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Oculotrichodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculotrichodysplasia' SubClassOf 'malformation syndrome' + 'Oculotrichodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oculotrichodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculotrichodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculotrichodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Oculotrichodysplasia' SubClassOf 'malformation syndrome' + 'Oculotrichodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_2719 Label: Oculocerebral hypopigmentation syndrome, Cross type - 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'part_of' some 'Syndromic oculocutaneous albinism' - 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'malformation syndrome' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic oculocutaneous albinism' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'malformation syndrome' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_357756 Label: kinesin family member 23 - 'kinesin family member 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type III' - 'kinesin family member 23' SubClassOf 'gene' + 'kinesin family member 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type III' + 'kinesin family member 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93126 Label: Pauci-immune glomerulonephritis - 'Pauci-immune glomerulonephritis' SubClassOf 'disease' - 'Pauci-immune glomerulonephritis' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Pauci-immune glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Pauci-immune glomerulonephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178528 Label: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma - 'Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma' SubClassOf 'disease' - 'Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' + 'Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90349 Label: Autosomal recessive cutis laxa type 1 - 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cutis laxa type 1' SubClassOf 'disease' - 'Autosomal recessive cutis laxa type 1' SubClassOf 'part_of' some 'Cutis laxa' - 'Autosomal recessive cutis laxa type 1' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive cutis laxa type 1' SubClassOf 'disease' + 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive cutis laxa type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cutis laxa type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_226310 Label: Peripheral hypothyroidism - 'Peripheral hypothyroidism' SubClassOf 'group of disorders' + 'Peripheral hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93114 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_inheritance' some 'sporadic' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_207122 Label: Qualitative or quantitative defects of fukutin - 'Qualitative or quantitative defects of fukutin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of fukutin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_226313 Label: Congenital hypothyroidism due to maternal intake of antithyroid drugs - 'Congenital hypothyroidism due to maternal intake of antithyroid drugs' SubClassOf 'disease' - 'Congenital hypothyroidism due to maternal intake of antithyroid drugs' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to maternal factor' + 'Congenital hypothyroidism due to maternal intake of antithyroid drugs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to maternal factor' + 'Congenital hypothyroidism due to maternal intake of antithyroid drugs' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_33355 Label: Reticular dysgenesis - 'Reticular dysgenesis' SubClassOf 'disease' - 'Reticular dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reticular dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Reticular dysgenesis' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Reticular dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Reticular dysgenesis' SubClassOf 'disease' + 'Reticular dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Reticular dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reticular dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Reticular dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Reticular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Reticular dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_226316 Label: Genetic transient congenital hypothyroidism - 'Genetic transient congenital hypothyroidism' SubClassOf 'disease' - 'Genetic transient congenital hypothyroidism' SubClassOf 'part_of' some 'Congenital hypothyroidism' - 'Genetic transient congenital hypothyroidism' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to neonatal factor' + 'Genetic transient congenital hypothyroidism' SubClassOf 'disease' + 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism' + 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to neonatal factor' Class: http://www.orpha.net/ORDO/Orphanet_90342 Label: Xeroderma pigmentosum variant - 'Xeroderma pigmentosum variant' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum variant' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum variant' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum variant' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum variant' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum variant' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum variant' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum variant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Xeroderma pigmentosum variant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Xeroderma pigmentosum variant' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_90348 Label: Autosomal dominant cutis laxa - 'Autosomal dominant cutis laxa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant cutis laxa' SubClassOf 'disease' - 'Autosomal dominant cutis laxa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant cutis laxa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant cutis laxa' SubClassOf 'part_of' some 'Cutis laxa' + 'Autosomal dominant cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cutis laxa' SubClassOf 'disease' + 'Autosomal dominant cutis laxa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Autosomal dominant cutis laxa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant cutis laxa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant cutis laxa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_369311 Label: secreted phosphoprotein 1 - 'secreted phosphoprotein 1' SubClassOf 'gene' - 'secreted phosphoprotein 1' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' + 'secreted phosphoprotein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'secreted phosphoprotein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'secreted phosphoprotein 1' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_120657 Label: CCHC-type zinc finger, nucleic acid binding protein - 'CCHC-type zinc finger, nucleic acid binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal myotonic myopathy' - 'CCHC-type zinc finger, nucleic acid binding protein' SubClassOf 'gene' + 'CCHC-type zinc finger, nucleic acid binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal myotonic myopathy' + 'CCHC-type zinc finger, nucleic acid binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'CCHC-type zinc finger, nucleic acid binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120664 Label: cyclic nucleotide gated channel alpha 1 - 'cyclic nucleotide gated channel alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'cyclic nucleotide gated channel alpha 1' SubClassOf 'gene' + 'cyclic nucleotide gated channel alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cyclic nucleotide gated channel alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclic nucleotide gated channel alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_268337 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90350 Label: Autosomal recessive cutis laxa type 2 - 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cutis laxa type 2' SubClassOf 'group of disorders' - 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive cutis laxa type 2' SubClassOf 'group of disorders' + 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cutis laxa type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cutis laxa type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159128 Label: cytoplasmic FMR1 interacting protein 1 - 'cytoplasmic FMR1 interacting protein 1' SubClassOf 'gene' - 'cytoplasmic FMR1 interacting protein 1' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' + 'cytoplasmic FMR1 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11"^^http://www.w3.org/2001/XMLSchema#string + 'cytoplasmic FMR1 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytoplasmic FMR1 interacting protein 1' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_31205 Label: Rat-bite fever - 'Rat-bite fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Rat-bite fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Rat-bite fever' SubClassOf 'disease' + 'Rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Rat-bite fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159122 Label: small nucleolar RNA, C/D box 116 cluster - 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' - 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' - 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' - 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'gene' - 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation' + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation' + 'small nucleolar RNA, C/D box 116 cluster' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_119363 Label: complement factor H - 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial drusen' - 'complement factor H' SubClassOf 'gene' - 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' - 'complement factor H' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with H factor anomaly' - 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' - 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with factor H anomaly' + 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial drusen' + 'complement factor H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' + 'complement factor H' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with H factor anomaly' + 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'complement factor H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with factor H anomaly' + 'complement factor H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93108 Label: Renal dysplasia - 'Renal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Renal dysplasia' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Renal dysplasia' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Renal dysplasia' SubClassOf 'morphological anomaly' + 'Renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Renal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Renal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Renal dysplasia' SubClassOf 'morphological anomaly' + 'Renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_119354 Label: ceramide kinase-like - 'ceramide kinase-like' SubClassOf 'gene' - 'ceramide kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'ceramide kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ceramide kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'ceramide kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93109 Label: Congenital megacalycosis - 'Congenital megacalycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital megacalycosis' SubClassOf 'morphological anomaly' - 'Congenital megacalycosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital megacalycosis' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' + 'Congenital megacalycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital megacalycosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital megacalycosis' SubClassOf 'morphological anomaly' + 'Congenital megacalycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Congenital megacalycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_90339 Label: Rosselli-Gulienetti syndrome - 'Rosselli-Gulienetti syndrome' SubClassOf 'part_of' some 'Cleft lip/palate - ectodermal dysplasia' - 'Rosselli-Gulienetti syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rosselli-Gulienetti syndrome' SubClassOf 'malformation syndrome' - 'Rosselli-Gulienetti syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rosselli-Gulienetti syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rosselli-Gulienetti syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Rosselli-Gulienetti syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rosselli-Gulienetti syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rosselli-Gulienetti syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Rosselli-Gulienetti syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft lip/palate - ectodermal dysplasia' + 'Rosselli-Gulienetti syndrome' SubClassOf 'malformation syndrome' + 'Rosselli-Gulienetti syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rosselli-Gulienetti syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_119357 Label: cholesteryl ester transfer protein, plasma - 'cholesteryl ester transfer protein, plasma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' - 'cholesteryl ester transfer protein, plasma' SubClassOf 'gene' + 'cholesteryl ester transfer protein, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'cholesteryl ester transfer protein, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholesteryl ester transfer protein, plasma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' Class: http://www.orpha.net/ORDO/Orphanet_119359 Label: cripto, FRL-1, cryptic family 1 - 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' - 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' - 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Biliary atresia with splenic malformation syndrome' - 'cripto, FRL-1, cryptic family 1' SubClassOf 'gene' - 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' + 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' + 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' + 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Biliary atresia with splenic malformation syndrome' + 'cripto, FRL-1, cryptic family 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'cripto, FRL-1, cryptic family 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_33364 Label: Trichothiodystrophy - 'Trichothiodystrophy' SubClassOf 'group of disorders' - 'Trichothiodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trichothiodystrophy' SubClassOf 'has_prevalence' some 'Unknown' + 'Trichothiodystrophy' SubClassOf 'group of disorders' + 'Trichothiodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trichothiodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_397968 Label: Charcot-Marie-Tooth disease type 2R - 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' - 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 2R' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209271 Label: spectrin repeat containing, nuclear envelope 2 - 'spectrin repeat containing, nuclear envelope 2' SubClassOf 'gene' - 'spectrin repeat containing, nuclear envelope 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'spectrin repeat containing, nuclear envelope 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin repeat containing, nuclear envelope 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.1-q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'spectrin repeat containing, nuclear envelope 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_308520 Label: Glycogen storage disease due to glycogen synthase deficiency - 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'group of disorders' + 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397973 Label: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'disease' - 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'disease' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_120678 Label: cyclic nucleotide gated channel beta 3 - 'cyclic nucleotide gated channel beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'cyclic nucleotide gated channel beta 3' SubClassOf 'gene' - 'cyclic nucleotide gated channel beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' - 'cyclic nucleotide gated channel beta 3' SubClassOf 'Candidate gene tested in' some 'Stargardt disease' + 'cyclic nucleotide gated channel beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'cyclic nucleotide gated channel beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'cyclic nucleotide gated channel beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclic nucleotide gated channel beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'cyclic nucleotide gated channel beta 3' SubClassOf 'Candidate gene tested in' some 'Stargardt disease' Class: http://www.orpha.net/ORDO/Orphanet_209279 Label: succinate dehydrogenase complex assembly factor 2 - 'succinate dehydrogenase complex assembly factor 2' SubClassOf 'gene' - 'succinate dehydrogenase complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'succinate dehydrogenase complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120671 Label: cyclic nucleotide gated channel alpha 3 - 'cyclic nucleotide gated channel alpha 3' SubClassOf 'gene' - 'cyclic nucleotide gated channel alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'cyclic nucleotide gated channel alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'cyclic nucleotide gated channel alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cyclic nucleotide gated channel alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclic nucleotide gated channel alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' Class: http://www.orpha.net/ORDO/Orphanet_90340 Label: Blau syndrome - 'Blau syndrome' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' - 'Blau syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Blau syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Blau syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blau syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blau syndrome' SubClassOf 'disease' - 'Blau syndrome' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' - 'Blau syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Blau syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Blau syndrome' SubClassOf 'part_of' some 'Systemic diseases with panuveitis' - 'Blau syndrome' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Blau syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blau syndrome' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' + 'Blau syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Blau syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with panuveitis' + 'Blau syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Blau syndrome' SubClassOf 'disease' + 'Blau syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Blau syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Blau syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_159118 Label: zinc finger protein 41 - 'zinc finger protein 41' SubClassOf 'gene' - 'zinc finger protein 41' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 41' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93111 Label: Renal cysts and diabetes syndrome - 'Renal cysts and diabetes syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 2' - 'Renal cysts and diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Renal cysts and diabetes syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal cysts and diabetes syndrome' SubClassOf 'malformation syndrome' + 'Renal cysts and diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal cysts and diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Renal cysts and diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 2' + 'Renal cysts and diabetes syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268343 Label: potassium channel tetramerization domain containing 7 - 'potassium channel tetramerization domain containing 7' SubClassOf 'gene' - 'potassium channel tetramerization domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 3' + 'potassium channel tetramerization domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel tetramerization domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 3' + 'potassium channel tetramerization domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93110 Label: Posterior urethral valve - 'Posterior urethral valve' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Posterior urethral valve' SubClassOf 'morphological anomaly' - 'Posterior urethral valve' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Posterior urethral valve' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Posterior urethral valve' SubClassOf 'morphological anomaly' + 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_119343 Label: centrosomal protein 290kDa - 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'centrosomal protein 290kDa' SubClassOf 'gene' - 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' - 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'centrosomal protein 290kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'centrosomal protein 290kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'centrosomal protein 290kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120638 Label: ceroid-lipofuscinosis, neuronal 3 - 'ceroid-lipofuscinosis, neuronal 3' SubClassOf 'gene' - 'ceroid-lipofuscinosis, neuronal 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN3 disease' + 'ceroid-lipofuscinosis, neuronal 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12"^^http://www.w3.org/2001/XMLSchema#string + 'ceroid-lipofuscinosis, neuronal 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN3 disease' + 'ceroid-lipofuscinosis, neuronal 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_369336 Label: interleukin-1 receptor-associated kinase 1 - 'interleukin-1 receptor-associated kinase 1' SubClassOf 'gene' - 'interleukin-1 receptor-associated kinase 1' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' + 'interleukin-1 receptor-associated kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin-1 receptor-associated kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin-1 receptor-associated kinase 1' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90368 Label: Hypotrichosis simplex of the scalp - 'Hypotrichosis simplex of the scalp' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypotrichosis simplex of the scalp' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypotrichosis simplex of the scalp' SubClassOf 'part_of' some 'Alopecia' - 'Hypotrichosis simplex of the scalp' SubClassOf 'disease' - 'Hypotrichosis simplex of the scalp' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hypotrichosis simplex of the scalp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hypotrichosis simplex of the scalp' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypotrichosis simplex of the scalp' SubClassOf 'disease' + 'Hypotrichosis simplex of the scalp' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_90363 Label: Secondary intestinal lymphangiectasia - 'Secondary intestinal lymphangiectasia' SubClassOf 'disease' - 'Secondary intestinal lymphangiectasia' SubClassOf 'part_of' some 'Intestinal lymphangiectasia' + 'Secondary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal lymphangiectasia' + 'Secondary intestinal lymphangiectasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_51013 Label: Melanoma-pancreatic cancer syndrome - 'Melanoma-pancreatic cancer syndrome' SubClassOf 'disease' - 'Melanoma-pancreatic cancer syndrome' SubClassOf 'part_of' some 'Pancreatic tumor' + 'Melanoma-pancreatic cancer syndrome' SubClassOf 'disease' + 'Melanoma-pancreatic cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_120641 Label: ceroid-lipofuscinosis, neuronal 5 - 'ceroid-lipofuscinosis, neuronal 5' SubClassOf 'gene' - 'ceroid-lipofuscinosis, neuronal 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN5 disease' + 'ceroid-lipofuscinosis, neuronal 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ceroid-lipofuscinosis, neuronal 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q21.2-q32"^^http://www.w3.org/2001/XMLSchema#string + 'ceroid-lipofuscinosis, neuronal 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_120643 Label: ceroid-lipofuscinosis, neuronal 6, late infantile, variant - 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf 'gene' - 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN4A disease' - 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN6 disease' + 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN4A disease' + 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23"^^http://www.w3.org/2001/XMLSchema#string + 'ceroid-lipofuscinosis, neuronal 6, late infantile, variant' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN6 disease' Class: http://www.orpha.net/ORDO/Orphanet_207107 Label: Qualitative or quantitative defects of TRIM32 - 'Qualitative or quantitative defects of TRIM32' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of TRIM32' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_37612 Label: Episodic ataxia type 1 - 'Episodic ataxia type 1' SubClassOf 'disease' - 'Episodic ataxia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Episodic ataxia type 1' SubClassOf 'part_of' some 'Hereditary episodic ataxia' + 'Episodic ataxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Episodic ataxia type 1' SubClassOf 'disease' + 'Episodic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_207104 Label: Qualitative or quantitative defects of calpain - 'Qualitative or quantitative defects of calpain' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of calpain' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291915 Label: butyrophilin-like 2 (MHC class II associated) - 'butyrophilin-like 2 (MHC class II associated)' SubClassOf 'gene' - 'butyrophilin-like 2 (MHC class II associated)' SubClassOf 'Major susceptibility factor in' some 'Sarcoidosis' + 'butyrophilin-like 2 (MHC class II associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'butyrophilin-like 2 (MHC class II associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'butyrophilin-like 2 (MHC class II associated)' SubClassOf 'Major susceptibility factor in' some 'Sarcoidosis' Class: http://www.orpha.net/ORDO/Orphanet_93101 Label: Renal hypoplasia - 'Renal hypoplasia' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Renal hypoplasia' SubClassOf 'morphological anomaly' - 'Renal hypoplasia' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Renal hypoplasia' SubClassOf 'morphological anomaly' + 'Renal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Renal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Renal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_402648 Label: adaptor-related protein complex 1, sigma 3 subunit - 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' - 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pustular psoriasis' - 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pustular psoriasis' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93100 Label: Unilateral renal agenesis - 'Unilateral renal agenesis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Unilateral renal agenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Unilateral renal agenesis' SubClassOf 'morphological anomaly' - 'Unilateral renal agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Unilateral renal agenesis' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Unilateral renal agenesis' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Unilateral renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Unilateral renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Unilateral renal agenesis' SubClassOf 'morphological anomaly' + 'Unilateral renal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Unilateral renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Unilateral renal agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_207101 Label: Qualitative or quantitative defects of perlecan - 'Qualitative or quantitative defects of perlecan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of perlecan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319504 Label: Combined oxidative phosphorylation defect type 8 - 'Combined oxidative phosphorylation defect type 8' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 8' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 8' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119336 Label: centromere protein J - 'centromere protein J' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' - 'centromere protein J' SubClassOf 'gene' - 'centromere protein J' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centromere protein J' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.12"^^http://www.w3.org/2001/XMLSchema#string + 'centromere protein J' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'centromere protein J' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centromere protein J' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_31204 Label: Nocardiosis - 'Nocardiosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Nocardiosis' SubClassOf 'disease' - 'Nocardiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nocardiosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Nocardiosis' SubClassOf 'disease' + 'Nocardiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Nocardiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_77240 Label: Primary lymphedema - 'Primary lymphedema' SubClassOf 'group of disorders' + 'Primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary lymphedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189174 Label: homeobox D10 - 'homeobox D10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital vertical talus, bilateral' - 'homeobox D10' SubClassOf 'gene' - 'homeobox D10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital vertical talus, unilateral' + 'homeobox D10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homeobox D10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox D10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital vertical talus, bilateral' + 'homeobox D10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital vertical talus, unilateral' Class: http://www.orpha.net/ORDO/Orphanet_207110 Label: Qualitative or quantitative defects of myotubularin - 'Qualitative or quantitative defects of myotubularin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of myotubularin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31202 Label: Melioidosis - 'Melioidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Melioidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Melioidosis' SubClassOf 'disease' - 'Melioidosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Melioidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C032 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Melioidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Melioidosis' SubClassOf 'disease' + 'Melioidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Melioidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_119333 Label: carboxyl ester lipase - 'carboxyl ester lipase' SubClassOf 'gene' - 'carboxyl ester lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'carboxyl ester lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'carboxyl ester lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'carboxyl ester lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_63455 Label: Paraneoplastic pemphigus - 'Paraneoplastic pemphigus' SubClassOf 'disease' - 'Paraneoplastic pemphigus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paraneoplastic pemphigus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paraneoplastic pemphigus' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Paraneoplastic pemphigus' SubClassOf 'has_inheritance' some 'sporadic' + 'Paraneoplastic pemphigus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paraneoplastic pemphigus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Paraneoplastic pemphigus' SubClassOf 'disease' + 'Paraneoplastic pemphigus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paraneoplastic pemphigus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_63454 Label: Patterned dystrophy of the retinal pigment epithelium - 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'group of disorders' + 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'group of disorders' + 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120648 Label: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) - 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN8 disease' - 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf 'gene' - 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive epilepsy - intellectual disability, Finnish type' + 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN8 disease' + 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive epilepsy - intellectual disability, Finnish type' + 'ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_77243 Label: Lipedema - 'Lipedema' SubClassOf 'disease' - 'Lipedema' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Lipedema' SubClassOf 'part_of' some 'Lymphedema' - 'Lipedema' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' + 'Lipedema' SubClassOf 'disease' + 'Lipedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Lipedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphedema' + 'Lipedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_226307 Label: Hypothyroidism due to deficient transcription factors involved in pituitary development or function - 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'disease' + 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'disease' + 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_90354 Label: Brittle cornea syndrome - 'Brittle cornea syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brittle cornea syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brittle cornea syndrome' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Brittle cornea syndrome' SubClassOf 'disease' - 'Brittle cornea syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brittle cornea syndrome' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' + 'Brittle cornea syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Brittle cornea syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brittle cornea syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Brittle cornea syndrome' SubClassOf 'disease' + 'Brittle cornea syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_319509 Label: Combined oxidative phosphorylation defect type 9 - 'Combined oxidative phosphorylation defect type 9' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 9' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 9' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268325 Label: tet methylcytosine dioxygenase 2 - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acquired idiopathic sideroblastic anemia' - 'tet methylcytosine dioxygenase 2' SubClassOf 'gene' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Refractory anemia' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Modifying somatic mutation in' some 'Essential thrombocythemia' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with multilineage dysplasia' - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Refractory anemia with excess blasts' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acquired idiopathic sideroblastic anemia' + 'tet methylcytosine dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tet methylcytosine dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Refractory anemia' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Modifying somatic mutation in' some 'Essential thrombocythemia' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with multilineage dysplasia' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Refractory anemia with excess blasts' Class: http://www.orpha.net/ORDO/Orphanet_90362 Label: Primary intestinal lymphangiectasia - 'Primary intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary intestinal lymphangiectasia' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Primary intestinal lymphangiectasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary intestinal lymphangiectasia' SubClassOf 'disease' - 'Primary intestinal lymphangiectasia' SubClassOf 'part_of' some 'Intestinal lymphangiectasia' + 'Primary intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Primary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal lymphangiectasia' + 'Primary intestinal lymphangiectasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120653 Label: clarin 1 - 'clarin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' - 'clarin 1' SubClassOf 'gene' - 'clarin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'clarin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'clarin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' + 'clarin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'clarin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_63446 Label: Acrocapitofemoral dysplasia - 'Acrocapitofemoral dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrocapitofemoral dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Acrocapitofemoral dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrocapitofemoral dysplasia' SubClassOf 'malformation syndrome' - 'Acrocapitofemoral dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrocapitofemoral dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acrocapitofemoral dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrocapitofemoral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Acrocapitofemoral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acrocapitofemoral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocapitofemoral dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207119 Label: Qualitative or quantitative defects of FKRP - 'Qualitative or quantitative defects of FKRP' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of FKRP' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_207113 Label: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan - 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268322 Label: Hereditary thrombocytopenia with normal platelets - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'disease' + 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hereditary thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397937 Label: Polyglucosan body myopathy - 'Polyglucosan body myopathy' SubClassOf 'disease' - 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' + 'Polyglucosan body myopathy' SubClassOf 'disease' + 'Polyglucosan body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Polyglucosan body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Polyglucosan body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_120618 Label: Zic family member 4 - 'Zic family member 4' SubClassOf 'gene' - 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' - 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' + 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' + 'Zic family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' + 'Zic family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319519 Label: Combined oxidative phosphorylation defect type 14 - 'Combined oxidative phosphorylation defect type 14' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 14' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 14' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_311649 Label: collagen, type XIV, alpha 1 - 'collagen, type XIV, alpha 1' SubClassOf 'gene' - 'collagen, type XIV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Punctate palmoplantar keratoderma type 1' + 'collagen, type XIV, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q23"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XIV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Punctate palmoplantar keratoderma type 1' + 'collagen, type XIV, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251909 Label: Pineoblastoma - 'Pineoblastoma' SubClassOf 'disease' - 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pineoblastoma' SubClassOf 'part_of' some 'Pineal tumor of the neuroepithelial tissue' + 'Pineoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Pineoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pineal tumor of the neuroepithelial tissue' + 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pineoblastoma' SubClassOf 'disease' + 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Pineoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_77259 Label: Gaucher disease type 1 - 'Gaucher disease type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease type 1' SubClassOf 'part_of' some 'Rare hereditary disease with avascular necrosis' - 'Gaucher disease type 1' SubClassOf 'clinical subtype' - 'Gaucher disease type 1' SubClassOf 'part_of' some 'Gaucher disease' - 'Gaucher disease type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Gaucher disease type 1' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' - 'Gaucher disease type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Gaucher disease type 1' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 1' SubClassOf 'clinical subtype' + 'Gaucher disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' + 'Gaucher disease type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with avascular necrosis' + 'Gaucher disease type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.48"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_33314 Label: Jessner's lymphocytic infiltration of the skin - 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'has_inheritance' some 'sporadic' - 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'disease' - 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'has_prevalence' some 'Unknown' - 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Jessner's lymphocytic infiltration of the skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Jessner's lymphocytic infiltration of the skin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90301 Label: Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'disease' - 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'part_of' some 'Other genetic epidermal disease' + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'disease' + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_77258 Label: Trichorhinophalangeal syndrome type 1 and 3 - 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'malformation syndrome' - 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'part_of' some 'Trichorhinophalangeal syndrome' - 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Trichorhinophalangeal syndrome' + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'malformation syndrome' + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120613 Label: Zic family member 3 - 'Zic family member 3' SubClassOf 'gene' - 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries' - 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' - 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' + 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries' + 'Zic family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' + 'Zic family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq24-q27.1"^^http://www.w3.org/2001/XMLSchema#string + 'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_90308 Label: Klippel-Tr�naunay syndrome - 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Klippel-Tr�naunay syndrome' SubClassOf 'part_of' some 'Angioosteohypertrophic syndrome' - 'Klippel-Tr�naunay syndrome' SubClassOf 'clinical subtype' - 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Klippel-Tr�naunay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Angioosteohypertrophic syndrome' + 'Klippel-Tr�naunay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Klippel-Tr�naunay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Klippel-Tr�naunay syndrome' SubClassOf 'clinical subtype' + 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_90307 Label: Parkes Weber syndrome - 'Parkes Weber syndrome' SubClassOf 'clinical subtype' - 'Parkes Weber syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parkes Weber syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Parkes Weber syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Angioosteohypertrophic syndrome' + 'Parkes Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Parkes Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Angioosteohypertrophic syndrome' + 'Parkes Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Parkes Weber syndrome' SubClassOf 'clinical subtype' + 'Parkes Weber syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Parkes Weber syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159161 Label: retrotransposon-like 1 - 'retrotransposon-like 1' SubClassOf 'gene' - 'retrotransposon-like 1' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' - 'retrotransposon-like 1' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' + 'retrotransposon-like 1' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'retrotransposon-like 1' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' + 'retrotransposon-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'retrotransposon-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251905 Label: Pineal tumor of the neuroepithelial tissue - 'Pineal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' + 'Pineal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251902 Label: Atypical papilloma of choroid plexus - 'Atypical papilloma of choroid plexus' SubClassOf 'disease' - 'Atypical papilloma of choroid plexus' SubClassOf 'part_of' some 'Choroid plexus tumor' + 'Atypical papilloma of choroid plexus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choroid plexus tumor' + 'Atypical papilloma of choroid plexus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_71862 Label: Retinal dystrophy - 'Retinal dystrophy' SubClassOf 'group of disorders' + 'Retinal dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262628 Label: Partial duplication of chromosome 6 - 'Partial duplication of chromosome 6' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_71864 Label: Muscular channelopathy - 'Muscular channelopathy' SubClassOf 'group of disorders' + 'Muscular channelopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319514 Label: Combined oxidative phosphorylation defect type 13 - 'Combined oxidative phosphorylation defect type 13' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 13' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 13' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90309 Label: Ehlers-Danlos syndrome type 1 - 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Ehlers-Danlos syndrome type 1' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome, classic type' - 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome type 1' SubClassOf 'etiological subtype' + 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome type 1' SubClassOf 'etiological subtype' + 'Ehlers-Danlos syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome, classic type' Class: http://www.orpha.net/ORDO/Orphanet_96321 Label: Polyploidy - 'Polyploidy' SubClassOf 'group of disorders' + 'Polyploidy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159166 Label: lysophosphatidic acid receptor 6 - 'lysophosphatidic acid receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'lysophosphatidic acid receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' - 'lysophosphatidic acid receptor 6' SubClassOf 'gene' + 'lysophosphatidic acid receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string + 'lysophosphatidic acid receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'lysophosphatidic acid receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'lysophosphatidic acid receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262633 Label: Partial duplication of chromosome 7 - 'Partial duplication of chromosome 7' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209224 Label: Qualitative or quantitative defects of myotilin - 'Qualitative or quantitative defects of myotilin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of myotilin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120620 Label: zinc metallopeptidase STE24 - 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' - 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' - 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type B lipodystrophy' - 'zinc metallopeptidase STE24' SubClassOf 'gene' + 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' + 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' + 'zinc metallopeptidase STE24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type B lipodystrophy' + 'zinc metallopeptidase STE24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc metallopeptidase STE24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_397941 Label: MAN1B1-CDG - 'MAN1B1-CDG' SubClassOf 'disease' - 'MAN1B1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'MAN1B1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' + 'MAN1B1-CDG' SubClassOf 'disease' + 'MAN1B1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'MAN1B1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_120628 Label: claudin 19 - 'claudin 19' SubClassOf 'gene' - 'claudin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' + 'claudin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' + 'claudin 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'claudin 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_173184 Label: cirrhosis, autosomal recessive 1A (cirhin) - 'cirrhosis, autosomal recessive 1A (cirhin)' SubClassOf 'gene' - 'cirrhosis, autosomal recessive 1A (cirhin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary North American Indian childhood cirrhosis' + 'cirrhosis, autosomal recessive 1A (cirhin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22"^^http://www.w3.org/2001/XMLSchema#string + 'cirrhosis, autosomal recessive 1A (cirhin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cirrhosis, autosomal recessive 1A (cirhin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary North American Indian childhood cirrhosis' Class: http://www.orpha.net/ORDO/Orphanet_399391 Label: Osteochondrosis of genetic origin - 'Osteochondrosis of genetic origin' SubClassOf 'group of disorders' + 'Osteochondrosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120625 Label: claudin 16 - 'claudin 16' SubClassOf 'gene' - 'claudin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' + 'claudin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'claudin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' + 'claudin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_397927 Label: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'malformation syndrome' + 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_77260 Label: Gaucher disease type 2 - 'Gaucher disease type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease type 2' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Gaucher disease type 2' SubClassOf 'part_of' some 'Gaucher disease' - 'Gaucher disease type 2' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Gaucher disease type 2' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Gaucher disease type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gaucher disease type 2' SubClassOf 'clinical subtype' - 'Gaucher disease type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gaucher disease type 2' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Gaucher disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' + 'Gaucher disease type 2' SubClassOf 'clinical subtype' + 'Gaucher disease type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_319524 Label: Combined oxidative phosphorylation defect type 15 - 'Combined oxidative phosphorylation defect type 15' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 15' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 15' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_77261 Label: Gaucher disease type 3 - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Rare hereditary disease with avascular necrosis' - 'Gaucher disease type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Gaucher disease type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gaucher disease type 3' SubClassOf 'clinical subtype' - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Gaucher disease type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Gaucher disease' + 'Gaucher disease type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Gaucher disease type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gaucher disease type 3' SubClassOf 'clinical subtype' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with avascular necrosis' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_96325 Label: Isochromosome Y - 'Isochromosome Y' SubClassOf 'group of disorders' + 'Isochromosome Y' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262638 Label: Partial duplication of chromosome 8 - 'Partial duplication of chromosome 8' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96334 Label: Paternal uniparental disomy of chromosome 14 - 'Paternal uniparental disomy of chromosome 14' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Paternal uniparental disomy of chromosome 14' SubClassOf 'etiological subtype' - 'Paternal uniparental disomy of chromosome 14' SubClassOf 'part_of' some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 14' SubClassOf 'etiological subtype' + 'Paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' Class: http://www.orpha.net/ORDO/Orphanet_159158 Label: maternally expressed 3 (non-protein coding) - 'maternally expressed 3 (non-protein coding)' SubClassOf 'gene' - 'maternally expressed 3 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' - 'maternally expressed 3 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'maternally expressed 3 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'maternally expressed 3 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'maternally expressed 3 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' + 'maternally expressed 3 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_96333 Label: Rare otorhinolaryngological malformation - 'Rare otorhinolaryngological malformation' SubClassOf 'group of disorders' + 'Rare otorhinolaryngological malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119394 Label: checkpoint kinase 2 - 'checkpoint kinase 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'checkpoint kinase 2' SubClassOf 'gene' - 'checkpoint kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Osteosarcoma' - 'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome' - 'checkpoint kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'checkpoint kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'checkpoint kinase 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'checkpoint kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Osteosarcoma' + 'checkpoint kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome' + 'checkpoint kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262643 Label: Partial trisomy/tetrasomy of chromosome 9 - 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123406 Label: Bloom syndrome, RecQ helicase-like - 'Bloom syndrome, RecQ helicase-like' SubClassOf 'gene' - 'Bloom syndrome, RecQ helicase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bloom syndrome' + 'Bloom syndrome, RecQ helicase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'Bloom syndrome, RecQ helicase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bloom syndrome' + 'Bloom syndrome, RecQ helicase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_397933 Label: Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome - 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'disease' - 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'disease' + 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_120630 Label: CAP-GLY domain containing linker protein 2 - 'CAP-GLY domain containing linker protein 2' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'CAP-GLY domain containing linker protein 2' SubClassOf 'gene' + 'CAP-GLY domain containing linker protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'CAP-GLY domain containing linker protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CAP-GLY domain containing linker protein 2' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90324 Label: Cockayne syndrome type 3 - 'Cockayne syndrome type 3' SubClassOf 'clinical subtype' - 'Cockayne syndrome type 3' SubClassOf 'part_of' some 'Cockayne syndrome' + 'Cockayne syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cockayne syndrome' + 'Cockayne syndrome type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_90322 Label: Cockayne syndrome type 2 - 'Cockayne syndrome type 2' SubClassOf 'clinical subtype' - 'Cockayne syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cockayne syndrome type 2' SubClassOf 'part_of' some 'Cockayne syndrome' + 'Cockayne syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cockayne syndrome type 2' SubClassOf 'clinical subtype' + 'Cockayne syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cockayne syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397959 Label: TCR-alpha-beta-positive T-cell deficiency - 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'disease' + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'disease' + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_90321 Label: Cockayne syndrome type 1 - 'Cockayne syndrome type 1' SubClassOf 'clinical subtype' - 'Cockayne syndrome type 1' SubClassOf 'part_of' some 'Cockayne syndrome' + 'Cockayne syndrome type 1' SubClassOf 'clinical subtype' + 'Cockayne syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cockayne syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319539 Label: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'group of disorders' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_173154 Label: Ts translation elongation factor, mitochondrial - 'Ts translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' - 'Ts translation elongation factor, mitochondrial' SubClassOf 'gene' + 'Ts translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'Ts translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Ts translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' Class: http://www.orpha.net/ORDO/Orphanet_319535 Label: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency - 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'group of disorders' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'group of disorders' + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119389 Label: chromodomain helicase DNA binding protein 7 - 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'chromodomain helicase DNA binding protein 7' SubClassOf 'gene' - 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHARGE syndrome' + 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'chromodomain helicase DNA binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'chromodomain helicase DNA binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'chromodomain helicase DNA binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHARGE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119387 Label: choline O-acetyltransferase - 'choline O-acetyltransferase' SubClassOf 'gene' - 'choline O-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'choline O-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'choline O-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'choline O-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_173149 Label: fibroblast growth factor 8 (androgen-induced) - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'gene' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25-q26"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'fibroblast growth factor 8 (androgen-induced)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2790 Label: Autosomal dominant osteosclerosis, Worth type - 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'malformation syndrome' - 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant osteosclerosis, Worth type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'malformation syndrome' + 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2792 Label: Otofaciocervical syndrome - 'Otofaciocervical syndrome' SubClassOf 'malformation syndrome' - 'Otofaciocervical syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Otofaciocervical syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Otofaciocervical syndrome' SubClassOf 'malformation syndrome' + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96344 Label: Rare gynecologic or obstetric disease - 'Rare gynecologic or obstetric disease' SubClassOf 'group of disorders' + 'Rare gynecologic or obstetric disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2791 Label: Otodental syndrome - 'Otodental syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Otodental syndrome' SubClassOf 'malformation syndrome' - 'Otodental syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Otodental syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Otodental syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Otodental syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 11' - 'Otodental syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Otodental syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Otodental syndrome' SubClassOf 'malformation syndrome' + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Otodental syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 11' + 'Otodental syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119382 Label: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystic fibrosis' - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'gene' - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bilateral absence of vas deferens' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cystic fibrosis' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bilateral absence of vas deferens' Class: http://www.orpha.net/ORDO/Orphanet_96346 Label: Anorectal malformation - 'Anorectal malformation' SubClassOf 'group of disorders' + 'Anorectal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2796 Label: Pachydermoperiostosis - 'Pachydermoperiostosis' SubClassOf 'malformation syndrome' - 'Pachydermoperiostosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pachydermoperiostosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Pachydermoperiostosis' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Pachydermoperiostosis' SubClassOf 'part_of' some 'Primary hypertrophic osteoarthropathy' - 'Pachydermoperiostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pachydermoperiostosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Pachydermoperiostosis' SubClassOf 'malformation syndrome' + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypertrophic osteoarthropathy' + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Pachydermoperiostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Pachydermoperiostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2795 Label: Polycystic ovaries - urethral sphincter dysfunction - 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'part_of' some 'Rare urogenital disease' - 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'disease' - 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'part_of' some 'Rare non-malformative uterine adnexal disease' + 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'disease' + 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative uterine adnexal disease' + 'Polycystic ovaries - urethral sphincter dysfunction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_123414 Label: hemochromatosis type 2 (juvenile) - 'hemochromatosis type 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' - 'hemochromatosis type 2 (juvenile)' SubClassOf 'gene' + 'hemochromatosis type 2 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemochromatosis type 2 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'hemochromatosis type 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_331701 Label: zinc finger protein 335 - 'zinc finger protein 335' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism due to ZNF335 deficiency' - 'zinc finger protein 335' SubClassOf 'gene' + 'zinc finger protein 335' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism due to ZNF335 deficiency' + 'zinc finger protein 335' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 335' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2798 Label: Pachygyria - intellectual disability - epilepsy - 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'malformation syndrome' + 'Pachygyria - intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'malformation syndrome' + 'Pachygyria - intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Pachygyria - intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397964 Label: Combined immunodeficiency due to MALT1 deficiency - 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123411 Label: hemochromatosis - 'hemochromatosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' - 'hemochromatosis' SubClassOf 'Major susceptibility factor in' some 'Porphyria cutanea tarda' - 'hemochromatosis' SubClassOf 'gene' + 'hemochromatosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' + 'hemochromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemochromatosis' SubClassOf 'Major susceptibility factor in' some 'Porphyria cutanea tarda' + 'hemochromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209203 Label: Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - - 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189135 Label: membrane-bound transcription factor peptidase, site 2 - 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' - 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'BRESEK syndrome' - 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis follicularis - alopecia - photophobia' - 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis follicularis spinulosa decalvans' - 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'gene' + 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' + 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'BRESEK syndrome' + 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis follicularis - alopecia - photophobia' + 'membrane-bound transcription factor peptidase, site 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.12-p22.11"^^http://www.w3.org/2001/XMLSchema#string + 'membrane-bound transcription factor peptidase, site 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis follicularis spinulosa decalvans' + 'membrane-bound transcription factor peptidase, site 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_397946 Label: Autosomal recessive spastic paraplegia type 58 - 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 58' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_120606 Label: Zic family member 1 - 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' - 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' - 'Zic family member 1' SubClassOf 'gene' + 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' + 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' + 'Zic family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'Zic family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319547 Label: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_319543 Label: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency - 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'group of disorders' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'group of disorders' + 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_285657 Label: Disorder of folate metabolism and transport - 'Disorder of folate metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of folate metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119377 Label: cofilin 2 (muscle) - 'cofilin 2 (muscle)' SubClassOf 'gene' - 'cofilin 2 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' + 'cofilin 2 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'cofilin 2 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cofilin 2 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_189131 Label: matrin 3 - 'matrin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'matrin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with vocal cord weakness' - 'matrin 3' SubClassOf 'gene' + 'matrin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'matrin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with vocal cord weakness' + 'matrin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119379 Label: complement factor properdin - 'complement factor properdin' SubClassOf 'gene' - 'complement factor properdin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Properdin deficiency' + 'complement factor properdin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement factor properdin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Properdin deficiency' + 'complement factor properdin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90318 Label: Ehlers-Danlos syndrome type 2 - 'Ehlers-Danlos syndrome type 2' SubClassOf 'etiological subtype' - 'Ehlers-Danlos syndrome type 2' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome, classic type' - 'Ehlers-Danlos syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ehlers-Danlos syndrome type 2' SubClassOf 'etiological subtype' + 'Ehlers-Danlos syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome, classic type' + 'Ehlers-Danlos syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159134 Label: autism susceptibility candidate 2 - 'autism susceptibility candidate 2' SubClassOf 'gene' - 'autism susceptibility candidate 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism spectrum disorder due to AUTS2 deficiency' - 'autism susceptibility candidate 2' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'autism susceptibility candidate 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism spectrum disorder due to AUTS2 deficiency' + 'autism susceptibility candidate 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'autism susceptibility candidate 2' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'autism susceptibility candidate 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159137 Label: NOP10 ribonucleoprotein - 'NOP10 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'NOP10 ribonucleoprotein' SubClassOf 'gene' + 'NOP10 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'NOP10 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14-q15"^^http://www.w3.org/2001/XMLSchema#string + 'NOP10 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119371 Label: complement factor I - 'complement factor I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with factor I anomaly' - 'complement factor I' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with I factor anomaly' - 'complement factor I' SubClassOf 'gene' + 'complement factor I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with factor I anomaly' + 'complement factor I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor I' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with I factor anomaly' + 'complement factor I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123426 Label: solute carrier family 3 (amino acid transporter heavy chain), member 1 - 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' - 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' - 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'gene' - 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinuria type A' - 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinuria type A' + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 3 (amino acid transporter heavy chain), member 1' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120610 Label: Zic family member 2 - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'Zic family member 2' SubClassOf 'gene' - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'Zic family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32"^^http://www.w3.org/2001/XMLSchema#string + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'Zic family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'Zic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_397951 Label: Microcephaly-thin corpus callosum-intellectual disability syndrome - 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'disease' - 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'disease' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123421 Label: proopiomelanocortin - 'proopiomelanocortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to pro-opiomelanocortin deficiency' - 'proopiomelanocortin' SubClassOf 'gene' + 'proopiomelanocortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to pro-opiomelanocortin deficiency' + 'proopiomelanocortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proopiomelanocortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_315350 Label: Autoimmune disease with skin involvement - 'Autoimmune disease with skin involvement' SubClassOf 'group of disorders' + 'Autoimmune disease with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401869 Label: Fatal multiple mitochondrial dysfunction syndrome type 1 - 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'clinical subtype' - 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'part_of' some 'Fatal multiple mitochondrial dysfunction syndrome' + 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'clinical subtype' + 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatal multiple mitochondrial dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171059 Label: methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria - 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblD' - 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' - 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblDv1' - 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'gene' + 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblD' + 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' + 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblDv1' + 'methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401866 Label: Spasticity-ataxia-gait anomalies syndrome - 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'part_of' some 'Spastic ataxia' - 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' - 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'disease' + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spastic ataxia' + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268162 Label: Intermediate maple syrup urine disease - 'Intermediate maple syrup urine disease' SubClassOf 'clinical subtype' - 'Intermediate maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Intermediate maple syrup urine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intermediate maple syrup urine disease' SubClassOf 'part_of' some 'Maple syrup urine disease' - 'Intermediate maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Intermediate maple syrup urine disease' SubClassOf 'clinical subtype' + 'Intermediate maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intermediate maple syrup urine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermediate maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intermediate maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maple syrup urine disease' + 'Intermediate maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_330206 Label: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability - 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'group of disorders' + 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401862 Label: Lipoyl transferase 1 deficiency - 'Lipoyl transferase 1 deficiency' SubClassOf 'disease' - 'Lipoyl transferase 1 deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' + 'Lipoyl transferase 1 deficiency' SubClassOf 'disease' + 'Lipoyl transferase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_331852 Label: growth factor, augmenter of liver regeneration - 'growth factor, augmenter of liver regeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' - 'growth factor, augmenter of liver regeneration' SubClassOf 'gene' + 'growth factor, augmenter of liver regeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth factor, augmenter of liver regeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' + 'growth factor, augmenter of liver regeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3-p13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363958 Label: 17q21.31 microdeletion syndrome - '17q21.31 microdeletion syndrome' SubClassOf 'etiological subtype' - '17q21.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17q21.31 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q21.31 microdeletion syndrome' SubClassOf 'part_of' some 'Koolen-De Vries syndrome' - '17q21.31 microdeletion syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + '17q21.31 microdeletion syndrome' SubClassOf 'etiological subtype' + '17q21.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Koolen-De Vries syndrome' + '17q21.31 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.25"^^http://www.w3.org/2001/XMLSchema#string) + '17q21.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q21.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + '17q21.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363965 Label: Koolen-De Vries syndrome due to a point mutation - 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'etiological subtype' - 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'part_of' some 'Koolen-De Vries syndrome' + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Koolen-De Vries syndrome' Class: http://www.orpha.net/ORDO/Orphanet_311455 Label: transforming, acidic coiled-coil containing protein 1 - 'transforming, acidic coiled-coil containing protein 1' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'transforming, acidic coiled-coil containing protein 1' SubClassOf 'gene' - 'transforming, acidic coiled-coil containing protein 1' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'transforming, acidic coiled-coil containing protein 1' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' + 'transforming, acidic coiled-coil containing protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11"^^http://www.w3.org/2001/XMLSchema#string + 'transforming, acidic coiled-coil containing protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming, acidic coiled-coil containing protein 1' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_71859 Label: Rare genetic neurological disorder - 'Rare genetic neurological disorder' SubClassOf 'group of disorders' + 'Rare genetic neurological disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306446 Label: Congenital sucrase-isomaltase deficiency with minimal starch tolerance - 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'clinical subtype' - 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_171064 Label: caveolin 1, caveolae protein, 22kDa - 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'gene' - 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' - 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' - 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' - 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'caveolin 1, caveolae protein, 22kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'caveolin 1, caveolae protein, 22kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'caveolin 1, caveolae protein, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_91024 Label: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 - 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' - 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' + 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_171068 Label: dynein, axonemal, assembly factor 2 - 'dynein, axonemal, assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'dynein, axonemal, assembly factor 2' SubClassOf 'gene' + 'dynein, axonemal, assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_311452 Label: transforming, acidic coiled-coil containing protein 3 - 'transforming, acidic coiled-coil containing protein 3' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'transforming, acidic coiled-coil containing protein 3' SubClassOf 'gene' - 'transforming, acidic coiled-coil containing protein 3' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'transforming, acidic coiled-coil containing protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming, acidic coiled-coil containing protein 3' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' + 'transforming, acidic coiled-coil containing protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'transforming, acidic coiled-coil containing protein 3' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_96269 Label: Isolated partial vaginal agenesis - 'Isolated partial vaginal agenesis' SubClassOf 'morphological anomaly' - 'Isolated partial vaginal agenesis' SubClassOf 'part_of' some 'Rare vaginal malformation' + 'Isolated partial vaginal agenesis' SubClassOf 'morphological anomaly' + 'Isolated partial vaginal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_96266 Label: Leydig cell hypoplasia due to partial LH resistance - 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'part_of' some 'Leydig cell hypoplasia' - 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'clinical subtype' + 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leydig cell hypoplasia' + 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_401879 Label: TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa - 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-thin corpus callosum-intellectual disability syndrome' - 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf 'gene' + 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-thin corpus callosum-intellectual disability syndrome' + 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96264 Label: 49,XXXXY syndrome - '49,XXXXY syndrome' SubClassOf 'malformation syndrome' - '49,XXXXY syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - '49,XXXXY syndrome' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - '49,XXXXY syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '49,XXXXY syndrome' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - '49,XXXXY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '49,XXXXY syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '49,XXXXY syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '49,XXXXY syndrome' SubClassOf 'part_of' some 'X chromosome number anomaly with male phenotype' + '49,XXXXY syndrome' SubClassOf 'malformation syndrome' + '49,XXXXY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '49,XXXXY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '49,XXXXY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X chromosome number anomaly with male phenotype' + '49,XXXXY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_96265 Label: Leydig cell hypoplasia due to complete LH resistance - 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'clinical subtype' - 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'part_of' some 'Leydig cell hypoplasia' + 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'clinical subtype' + 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leydig cell hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_96263 Label: 48,XXXY syndrome - '48,XXXY syndrome' SubClassOf 'malformation syndrome' - '48,XXXY syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '48,XXXY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '48,XXXY syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '48,XXXY syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - '48,XXXY syndrome' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - '48,XXXY syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '48,XXXY syndrome' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - '48,XXXY syndrome' SubClassOf 'part_of' some 'X chromosome number anomaly with male phenotype' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '48,XXXY syndrome' SubClassOf 'malformation syndrome' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '48,XXXY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X chromosome number anomaly with male phenotype' + '48,XXXY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '48,XXXY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '48,XXXY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + '48,XXXY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '48,XXXY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_401874 Label: Fatal multiple mitochondrial dysfunction syndrome type 2 - 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'clinical subtype' - 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'part_of' some 'Fatal multiple mitochondrial dysfunction syndrome' + 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatal multiple mitochondrial dysfunction syndrome' + 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399388 Label: Avascular necrosis of genetic origin - 'Avascular necrosis of genetic origin' SubClassOf 'group of disorders' + 'Avascular necrosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363954 Label: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 - 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peeling skin syndrome type A' - 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8' SubClassOf 'gene' + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Peeling skin syndrome type A' + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212587 Label: spinocerebellar ataxia 21 - 'spinocerebellar ataxia 21' SubClassOf 'gene' - 'spinocerebellar ataxia 21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 21' Class: http://www.orpha.net/ORDO/Orphanet_399380 Label: Osteonecrosis of genetic origin - 'Osteonecrosis of genetic origin' SubClassOf 'group of disorders' + 'Osteonecrosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171050 Label: ribosomal protein S7 - 'ribosomal protein S7' SubClassOf 'gene' - 'ribosomal protein S7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_171052 Label: ribosomal protein L5 - 'ribosomal protein L5' SubClassOf 'gene' - 'ribosomal protein L5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein L5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_69028 Label: Syndrome with brachydactyly - 'Syndrome with brachydactyly' SubClassOf 'group of disorders' + 'Syndrome with brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndrome with brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syndrome with brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndrome with brachydactyly' SubClassOf 'group of disorders' + 'Syndrome with brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndrome with brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_311462 Label: intraflagellar transport 88 - 'intraflagellar transport 88' SubClassOf 'Modifying germline mutation in' some 'Jeune syndrome' - 'intraflagellar transport 88' SubClassOf 'Modifying germline mutation in' some 'Meckel syndrome' - 'intraflagellar transport 88' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_171055 Label: ribosomal protein L11 - 'ribosomal protein L11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' - 'ribosomal protein L11' SubClassOf 'gene' + 'ribosomal protein L11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein L11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_48471 Label: Lissencephaly - 'Lissencephaly' SubClassOf 'group of disorders' + 'Lissencephaly' SubClassOf 'group of disorders' + 'Lissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_171057 Label: ribosomal protein L35a - 'ribosomal protein L35a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' - 'ribosomal protein L35a' SubClassOf 'gene' + 'ribosomal protein L35a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein L35a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L35a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_96253 Label: Cushing disease - 'Cushing disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cushing disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Cushing disease' SubClassOf 'part_of' some 'ACTH-dependent Cushing syndrome' - 'Cushing disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cushing disease' SubClassOf 'part_of' some 'Functioning pituitary adenoma' - 'Cushing disease' SubClassOf 'disease' + 'Cushing disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH-dependent Cushing syndrome' + 'Cushing disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cushing disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cushing disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functioning pituitary adenoma' + 'Cushing disease' SubClassOf 'disease' + 'Cushing disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cushing disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_268184 Label: Thiamine-responsive maple syrup urine disease - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'part_of' some 'Maple syrup urine disease' - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'clinical subtype' + 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maple syrup urine disease' + 'Thiamine-responsive maple syrup urine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thiamine-responsive maple syrup urine disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_96256 Label: Somatotropic adenoma - 'Somatotropic adenoma' SubClassOf 'group of disorders' + 'Somatotropic adenoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306462 Label: Congenital sucrase-isomaltase deficiency without starch intolerance - 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' - 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_35664 Label: ALDH18A1-related De Barsy syndrome - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'etiological subtype' - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'part_of' some 'De Barsy syndrome' - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'etiological subtype' + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALDH18A1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'De Barsy syndrome' + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'ALDH18A1-related De Barsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171081 Label: transient receptor potential cation channel, subfamily V, member 4 - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Kozlowski type' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial digital arthropathy-brachydactyly' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia, Maroteaux type' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metatropic dysplasia' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'gene' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant congenital benign spinal muscular atrophy' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parastremmatic dwarfism' - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant brachyolmia' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Kozlowski type' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial digital arthropathy-brachydactyly' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metatropic dysplasia' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia, Maroteaux type' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant congenital benign spinal muscular atrophy' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parastremmatic dwarfism' + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_212594 Label: prodynorphin - 'prodynorphin' SubClassOf 'gene' - 'prodynorphin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 23' + 'prodynorphin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'prodynorphin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 23' + 'prodynorphin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171089 Label: myosin VB - 'myosin VB' SubClassOf 'gene' - 'myosin VB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microvillus inclusion disease' + 'myosin VB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Microvillus inclusion disease' + 'myosin VB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268173 Label: Intermittent maple syrup urine disease - 'Intermittent maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intermittent maple syrup urine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intermittent maple syrup urine disease' SubClassOf 'clinical subtype' - 'Intermittent maple syrup urine disease' SubClassOf 'part_of' some 'Maple syrup urine disease' - 'Intermittent maple syrup urine disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Intermittent maple syrup urine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermittent maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intermittent maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intermittent maple syrup urine disease' SubClassOf 'clinical subtype' + 'Intermittent maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_306474 Label: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance - 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'clinical subtype' - 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_35656 Label: Coenzyme Q10 deficiency - 'Coenzyme Q10 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Coenzyme Q10 deficiency' SubClassOf 'group of disorders' - 'Coenzyme Q10 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Coenzyme Q10 deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Coenzyme Q10 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Coenzyme Q10 deficiency' SubClassOf 'group of disorders' + 'Coenzyme Q10 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_315385 Label: phenylalanyl-tRNA synthetase 2, mitochondrial - 'phenylalanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 14' - 'phenylalanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'phenylalanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phenylalanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'phenylalanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 14' Class: http://www.orpha.net/ORDO/Orphanet_171073 Label: egl-9 family hypoxia-inducible factor 1 - 'egl-9 family hypoxia-inducible factor 1' SubClassOf 'gene' - 'egl-9 family hypoxia-inducible factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' + 'egl-9 family hypoxia-inducible factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'egl-9 family hypoxia-inducible factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string + 'egl-9 family hypoxia-inducible factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_286217 Label: Rh blood group, D antigen - 'Rh blood group, D antigen' SubClassOf 'gene' - 'Rh blood group, D antigen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' + 'Rh blood group, D antigen' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rh blood group, D antigen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' + 'Rh blood group, D antigen' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_268129 Label: Spheroid body myopathy - 'Spheroid body myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of myotilin' - 'Spheroid body myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Spheroid body myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spheroid body myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Spheroid body myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Spheroid body myopathy' SubClassOf 'disease' + 'Spheroid body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of myotilin' + 'Spheroid body myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spheroid body myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spheroid body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Spheroid body myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118080 Label: protease, serine, 1 (trypsin 1) - 'protease, serine, 1 (trypsin 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' - 'protease, serine, 1 (trypsin 1)' SubClassOf 'gene' + 'protease, serine, 1 (trypsin 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hereditary chronic pancreatitis' + 'protease, serine, 1 (trypsin 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'protease, serine, 1 (trypsin 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_138486 Label: mediator complex subunit 12 - 'mediator complex subunit 12' SubClassOf 'gene' - 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' - 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, MKB type' + 'mediator complex subunit 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'mediator complex subunit 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' + 'mediator complex subunit 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, MKB type' Class: http://www.orpha.net/ORDO/Orphanet_363999 Label: Non-immune hydrops fetalis - 'Non-immune hydrops fetalis' SubClassOf 'part_of' some 'Hydrops fetalis' - 'Non-immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-immune hydrops fetalis' SubClassOf 'clinical subtype' - 'Non-immune hydrops fetalis' SubClassOf 'has_prevalence' some 'Unknown' + 'Non-immune hydrops fetalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Non-immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hydrops fetalis' + 'Non-immune hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "300.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-immune hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-immune hydrops fetalis' SubClassOf 'clinical subtype' + 'Non-immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Non-immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_401825 Label: Autosomal recessive spastic paraplegia type 68 - 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 68' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_315395 Label: dishevelled-binding antagonist of beta-catenin 1 - 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital encephalocele' - 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf 'gene' - 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniorachischisis' + 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital encephalocele' + 'dishevelled-binding antagonist of beta-catenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniorachischisis' Class: http://www.orpha.net/ORDO/Orphanet_118083 Label: protease, serine, 12 (neurotrypsin, motopsin) - 'protease, serine, 12 (neurotrypsin, motopsin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'protease, serine, 12 (neurotrypsin, motopsin)' SubClassOf 'gene' + 'protease, serine, 12 (neurotrypsin, motopsin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25-q26"^^http://www.w3.org/2001/XMLSchema#string + 'protease, serine, 12 (neurotrypsin, motopsin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'protease, serine, 12 (neurotrypsin, motopsin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_398201 Label: 5'-nucleotidase, cytosolic II - '5'-nucleotidase, cytosolic II' SubClassOf 'gene' - '5'-nucleotidase, cytosolic II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 45' + '5'-nucleotidase, cytosolic II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5'-nucleotidase, cytosolic II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 45' + '5'-nucleotidase, cytosolic II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118087 Label: proteinase 3 - 'proteinase 3' SubClassOf 'gene' - 'proteinase 3' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' + 'proteinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proteinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'proteinase 3' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' Class: http://www.orpha.net/ORDO/Orphanet_401820 Label: Autosomal recessive spastic paraplegia type 67 - 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 67' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_52994 Label: Orbital leiomyoma - 'Orbital leiomyoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Orbital leiomyoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orbital leiomyoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Orbital leiomyoma' SubClassOf 'disease' + 'Orbital leiomyoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' + 'Orbital leiomyoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Orbital leiomyoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Orbital leiomyoma' SubClassOf 'disease' + 'Orbital leiomyoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_202 Label: Crandall syndrome - 'Crandall syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Crandall syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Crandall syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Crandall syndrome' SubClassOf 'disease' - 'Crandall syndrome' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Crandall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Crandall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crandall syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201 Label: Cowden syndrome - 'Cowden syndrome' SubClassOf 'part_of' some 'PTEN hamartoma tumor syndrome' - 'Cowden syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cowden syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cowden syndrome' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Cowden syndrome' SubClassOf 'disease' - 'Cowden syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Cowden syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'Cowden syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Cowden syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PTEN hamartoma tumor syndrome' + 'Cowden syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cowden syndrome' SubClassOf 'disease' + 'Cowden syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cowden syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_205 Label: Crigler-Najjar syndrome - 'Crigler-Najjar syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Crigler-Najjar syndrome' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' - 'Crigler-Najjar syndrome' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Crigler-Najjar syndrome' SubClassOf 'disease' - 'Crigler-Najjar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Crigler-Najjar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Crigler-Najjar syndrome' SubClassOf 'disease' + 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Crigler-Najjar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Crigler-Najjar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Crigler-Najjar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Crigler-Najjar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' Class: http://www.orpha.net/ORDO/Orphanet_265505 Label: carcinoembryonic antigen-related cell adhesion molecule 16 - 'carcinoembryonic antigen-related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'carcinoembryonic antigen-related cell adhesion molecule 16' SubClassOf 'gene' + 'carcinoembryonic antigen-related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'carcinoembryonic antigen-related cell adhesion molecule 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carcinoembryonic antigen-related cell adhesion molecule 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_204 Label: Creutzfeldt-Jakob disease - 'Creutzfeldt-Jakob disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Creutzfeldt-Jakob disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Creutzfeldt-Jakob disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Transmissible spongiform encephalopathy' - 'Creutzfeldt-Jakob disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Creutzfeldt-Jakob disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Creutzfeldt-Jakob disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Creutzfeldt-Jakob disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transmissible spongiform encephalopathy' + 'Creutzfeldt-Jakob disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Creutzfeldt-Jakob disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Creutzfeldt-Jakob disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Creutzfeldt-Jakob disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Creutzfeldt-Jakob disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90399 Label: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms - 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'part_of' some 'Atypical lichen myxedematosus' - 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'clinical subtype' + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical lichen myxedematosus' + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_90398 Label: Localized lichen myxedematosus with mixed features of different subtypes - 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'part_of' some 'Atypical lichen myxedematosus' - 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'clinical subtype' + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical lichen myxedematosus' + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_138480 Label: structural maintenance of chromosomes 3 - 'structural maintenance of chromosomes 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' - 'structural maintenance of chromosomes 3' SubClassOf 'gene' + 'structural maintenance of chromosomes 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'structural maintenance of chromosomes 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25"^^http://www.w3.org/2001/XMLSchema#string + 'structural maintenance of chromosomes 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90397 Label: Self-healing papular mucinosis - 'Self-healing papular mucinosis' SubClassOf 'disease' - 'Self-healing papular mucinosis' SubClassOf 'part_of' some 'Localized lichen myxedematosus' + 'Self-healing papular mucinosis' SubClassOf 'disease' + 'Self-healing papular mucinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_90396 Label: Acral persistent papular mucinosis - 'Acral persistent papular mucinosis' SubClassOf 'disease' - 'Acral persistent papular mucinosis' SubClassOf 'part_of' some 'Localized lichen myxedematosus' + 'Acral persistent papular mucinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lichen myxedematosus' + 'Acral persistent papular mucinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401830 Label: Autosomal recessive spastic paraplegia type 69 - 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 69' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_138499 Label: CD96 molecule - 'CD96 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'C syndrome' - 'CD96 molecule' SubClassOf 'gene' + 'CD96 molecule' SubClassOf 'Candidate gene tested in' some 'C syndrome' + 'CD96 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD96 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p13-q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363989 Label: Familial benign flecked retina - 'Familial benign flecked retina' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Familial benign flecked retina' SubClassOf 'disease' - 'Familial benign flecked retina' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial benign flecked retina' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial benign flecked retina' SubClassOf 'disease' + 'Familial benign flecked retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_118092 Label: periaxin - 'periaxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4F' - 'periaxin' SubClassOf 'gene' - 'periaxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'periaxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4F' + 'periaxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'periaxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'periaxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_207 Label: Crouzon disease - 'Crouzon disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Crouzon disease' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Crouzon disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Crouzon disease' SubClassOf 'malformation syndrome' - 'Crouzon disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Crouzon disease' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Crouzon disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Crouzon disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Crouzon disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Crouzon disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Crouzon disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Crouzon disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Crouzon disease' SubClassOf 'malformation syndrome' + 'Crouzon disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Crouzon disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_398212 Label: kinesin family member 1C - 'kinesin family member 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 58' - 'kinesin family member 1C' SubClassOf 'gene' + 'kinesin family member 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive spastic paraplegia type 58' + 'kinesin family member 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_329178 Label: Congenital muscular dystrophy with intellectual disability and severe epilepsy - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disease' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disease' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_73014 Label: Intractable diarrhea of infancy - 'Intractable diarrhea of infancy' SubClassOf 'group of disorders' + 'Intractable diarrhea of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intractable diarrhea of infancy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304191 Label: GATA binding protein 5 - 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'GATA binding protein 5' SubClassOf 'gene' - 'GATA binding protein 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'GATA binding protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'GATA binding protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_209 Label: Cutis laxa - 'Cutis laxa' SubClassOf 'group of disorders' - 'Cutis laxa' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutis laxa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cutis laxa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cutis laxa' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cutis laxa' SubClassOf 'has_inheritance' some 'sporadic' + 'Cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutis laxa' SubClassOf 'group of disorders' + 'Cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cutis laxa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_268114 Label: RAS-associated autoimmune leukoproliferative disease - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'disease' - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'part_of' some 'Lymphoid hemopathy' - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoid hemopathy' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'disease' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401835 Label: Autosomal recessive spastic paraplegia type 70 - 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 70' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118095 Label: prosaposin - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, late infantile form' - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to prosaposin deficiency' - 'prosaposin' SubClassOf 'gene' - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Gaucher disease due to saposin C deficiency' - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, juvenile form' - 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, adult form' + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, late infantile form' + 'prosaposin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to prosaposin deficiency' + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Gaucher disease due to saposin C deficiency' + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, juvenile form' + 'prosaposin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'prosaposin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, adult form' Class: http://www.orpha.net/ORDO/Orphanet_118099 Label: presenilin 1 - 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'presenilin 1' SubClassOf 'gene' - 'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' - 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'presenilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'presenilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'presenilin 1' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' Class: http://www.orpha.net/ORDO/Orphanet_211 Label: Familial cylindromatosis - 'Familial cylindromatosis' SubClassOf 'part_of' some 'Brooke-Spiegler syndrome' - 'Familial cylindromatosis' SubClassOf 'clinical subtype' + 'Familial cylindromatosis' SubClassOf 'clinical subtype' + 'Familial cylindromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brooke-Spiegler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210 Label: Cyclosporosis - 'Cyclosporosis' SubClassOf 'disease' - 'Cyclosporosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cyclosporosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cyclosporosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cyclosporosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cyclosporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cyclosporosis' SubClassOf 'disease' + 'Cyclosporosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cyclosporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_213 Label: Cystinosis - 'Cystinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cystinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystinosis' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Cystinosis' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Cystinosis' SubClassOf 'part_of' some 'Disorder of lysosomal amino acid transport' - 'Cystinosis' SubClassOf 'disease' - 'Cystinosis' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Cystinosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Cystinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal amino acid transport' + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinosis' SubClassOf 'disease' + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Cystinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_212 Label: Cystathioninuria - 'Cystathioninuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cystathioninuria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cystathioninuria' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Cystathioninuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystathioninuria' SubClassOf 'disease' + 'Cystathioninuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cystathioninuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Cystathioninuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystathioninuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Cystathioninuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystathioninuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystathioninuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_215 Label: Congenital stationary night blindness - 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital stationary night blindness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital stationary night blindness' SubClassOf 'disease' - 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital stationary night blindness' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital stationary night blindness' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital stationary night blindness' SubClassOf 'disease' + 'Congenital stationary night blindness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital stationary night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' + 'Congenital stationary night blindness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_214 Label: Cystinuria - 'Cystinuria' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Cystinuria' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Cystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cystinuria' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Cystinuria' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Cystinuria' SubClassOf 'disease' + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Cystinuria' SubClassOf 'disease' + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217 Label: Isolated Dandy-Walker malformation - 'Isolated Dandy-Walker malformation' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated Dandy-Walker malformation' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' - 'Isolated Dandy-Walker malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated Dandy-Walker malformation' SubClassOf 'morphological anomaly' - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Genetic cerebellar malformation' - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' + 'Isolated Dandy-Walker malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Isolated Dandy-Walker malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Dandy-Walker malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar vermis' + 'Isolated Dandy-Walker malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebellar malformation' + 'Isolated Dandy-Walker malformation' SubClassOf 'morphological anomaly' + 'Isolated Dandy-Walker malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' Class: http://www.orpha.net/ORDO/Orphanet_216 Label: Neuronal ceroid lipofuscinosis - 'Neuronal ceroid lipofuscinosis' SubClassOf 'group of disorders' - 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuronal ceroid lipofuscinosis' SubClassOf 'group of disorders' + 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_209285 Label: dicer 1, ribonuclease type III - 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Familial multinodular goiter' - 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Ovarian malignant Sertoli-Leydig cell tumor' - 'dicer 1, ribonuclease type III' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' - 'dicer 1, ribonuclease type III' SubClassOf 'gene' - 'dicer 1, ribonuclease type III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pleuropulmonary blastoma family tumor susceptibility syndrome' + 'dicer 1, ribonuclease type III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dicer 1, ribonuclease type III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.13"^^http://www.w3.org/2001/XMLSchema#string + 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Familial multinodular goiter' + 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Ovarian malignant Sertoli-Leydig cell tumor' + 'dicer 1, ribonuclease type III' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' + 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Gynandroblastoma' + 'dicer 1, ribonuclease type III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pleuropulmonary blastoma family tumor susceptibility syndrome' + 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Granulosa cell malignant tumor' Class: http://www.orpha.net/ORDO/Orphanet_363992 Label: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'disease' - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'disease' + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_306416 Label: protein tyrosine phosphatase, non-receptor type 2 - 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf 'gene' + 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.3-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'protein tyrosine phosphatase, non-receptor type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401840 Label: Autosomal recessive spastic paraplegia type 71 - 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 71' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_89832 Label: Syndromic lymphedema - 'Syndromic lymphedema' SubClassOf 'group of disorders' + 'Syndromic lymphedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325261 Label: v-crk avian sarcoma virus CT10 oncogene homolog-like - 'v-crk avian sarcoma virus CT10 oncogene homolog-like' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' - 'v-crk avian sarcoma virus CT10 oncogene homolog-like' SubClassOf 'gene' + 'v-crk avian sarcoma virus CT10 oncogene homolog-like' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' + 'v-crk avian sarcoma virus CT10 oncogene homolog-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-crk avian sarcoma virus CT10 oncogene homolog-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399319 Label: Osteochondrosis - 'Osteochondrosis' SubClassOf 'group of disorders' + 'Osteochondrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401849 Label: Autosomal recessive spastic paraplegia type 72 - 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 72' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 72' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268145 Label: Classic maple syrup urine disease - 'Classic maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classic maple syrup urine disease' SubClassOf 'clinical subtype' - 'Classic maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Classic maple syrup urine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic maple syrup urine disease' SubClassOf 'part_of' some 'Maple syrup urine disease' + 'Classic maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Classic maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maple syrup urine disease' + 'Classic maple syrup urine disease' SubClassOf 'clinical subtype' + 'Classic maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic maple syrup urine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_333071 Label: laminin, alpha 4 - 'laminin, alpha 4' SubClassOf 'gene' - 'laminin, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'laminin, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_300179 Label: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type - 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_89826 Label: Rare skin disease - 'Rare skin disease' SubClassOf 'group of disorders' + 'Rare skin disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231386 Label: Beta-thalassemia with other manifestations - 'Beta-thalassemia with other manifestations' SubClassOf 'group of disorders' + 'Beta-thalassemia with other manifestations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231387 Label: wingless-type MMTV integration site family, member 5A - 'wingless-type MMTV integration site family, member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Robinow syndrome' - 'wingless-type MMTV integration site family, member 5A' SubClassOf 'gene' + 'wingless-type MMTV integration site family, member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Robinow syndrome' + 'wingless-type MMTV integration site family, member 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21-p14"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363981 Label: Charcot-Marie-Tooth disease type 4B3 - 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90393 Label: Nodular lichen myxedematosus - 'Nodular lichen myxedematosus' SubClassOf 'disease' - 'Nodular lichen myxedematosus' SubClassOf 'part_of' some 'Localized lichen myxedematosus' + 'Nodular lichen myxedematosus' SubClassOf 'disease' + 'Nodular lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_269704 Label: glycogenin 1 - 'glycogenin 1' SubClassOf 'gene' - 'glycogenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogenin deficiency' + 'glycogenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycogenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogenin deficiency' + 'glycogenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24-q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90394 Label: Discrete papular lichen myxedematosus - 'Discrete papular lichen myxedematosus' SubClassOf 'part_of' some 'Localized lichen myxedematosus' - 'Discrete papular lichen myxedematosus' SubClassOf 'disease' + 'Discrete papular lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lichen myxedematosus' + 'Discrete papular lichen myxedematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363969 Label: Autosomal recessive cerebral atrophy - 'Autosomal recessive cerebral atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cerebral atrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Autosomal recessive cerebral atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebral atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebral atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Autosomal recessive cerebral atrophy' SubClassOf 'disease' + 'Autosomal recessive cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive cerebral atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Autosomal recessive cerebral atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Autosomal recessive cerebral atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90395 Label: Papular mucinosis of infancy - 'Papular mucinosis of infancy' SubClassOf 'part_of' some 'Localized lichen myxedematosus' - 'Papular mucinosis of infancy' SubClassOf 'disease' + 'Papular mucinosis of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lichen myxedematosus' + 'Papular mucinosis of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268139 Label: Intraocular medulloepithelioma - 'Intraocular medulloepithelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Intraocular medulloepithelioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intraocular medulloepithelioma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Intraocular medulloepithelioma' SubClassOf 'disease' - 'Intraocular medulloepithelioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Intraocular medulloepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intraocular medulloepithelioma' SubClassOf 'disease' + 'Intraocular medulloepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intraocular medulloepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_90390 Label: Anonychia - onychodystrophy - 'Anonychia - onychodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anonychia - onychodystrophy' SubClassOf 'clinical subtype' - 'Anonychia - onychodystrophy' SubClassOf 'part_of' some 'Congenital anonychia' + 'Anonychia - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anonychia' + 'Anonychia - onychodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anonychia - onychodystrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399329 Label: Epiphysiolysis of the hip - 'Epiphysiolysis of the hip' SubClassOf 'disease' - 'Epiphysiolysis of the hip' SubClassOf 'part_of' some 'Osteonecrosis' + 'Epiphysiolysis of the hip' SubClassOf 'disease' + 'Epiphysiolysis of the hip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_331880 Label: chromosome 12 open reading frame 57 - 'chromosome 12 open reading frame 57' SubClassOf 'Disease-causing germline mutation(s) in' some 'Temtamy syndrome' - 'chromosome 12 open reading frame 57' SubClassOf 'gene' + 'chromosome 12 open reading frame 57' SubClassOf 'Disease-causing germline mutation(s) in' some 'Temtamy syndrome' + 'chromosome 12 open reading frame 57' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.31"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 12 open reading frame 57' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_89844 Label: Lissencephaly syndrome, Norman-Roberts type - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'disease' - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_prevalence' some 'Unknown' - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'part_of' some 'Microlissencephaly' - 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microlissencephaly' + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'disease' + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_333084 Label: caspase recruitment domain family, member 11 - 'caspase recruitment domain family, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent polyclonal B-cell lymphocytosis' - 'caspase recruitment domain family, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to CARD11 deficiency' - 'caspase recruitment domain family, member 11' SubClassOf 'gene' + 'caspase recruitment domain family, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe combined immunodeficiency due to CARD11 deficiency' + 'caspase recruitment domain family, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22"^^http://www.w3.org/2001/XMLSchema#string + 'caspase recruitment domain family, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase recruitment domain family, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Persistent polyclonal B-cell lymphocytosis' Class: http://www.orpha.net/ORDO/Orphanet_89843 Label: Dystrophic epidermolysis bullosa pruriginosa - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'disease' - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_prevalence' some 'Unknown' - 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'disease' + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_401854 Label: Lipoic acid biosynthesis defect - 'Lipoic acid biosynthesis defect' SubClassOf 'group of disorders' + 'Lipoic acid biosynthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_89842 Label: Recessive dystrophic epidermolysis bullosa-generalized other - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'disease' - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_prevalence' some 'Unknown' - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'disease' + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_89841 Label: Centripetalis recessive dystrophic epidermolysis bullosa - 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'disease' - 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'disease' + 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_89840 Label: Junctional epidermolysis bullosa, non-Herlitz type - 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'disease' - 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' - 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'disease' + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_401859 Label: Lipoic acid synthetase deficiency - 'Lipoic acid synthetase deficiency' SubClassOf 'disease' - 'Lipoic acid synthetase deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' + 'Lipoic acid synthetase deficiency' SubClassOf 'disease' + 'Lipoic acid synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_89839 Label: Epidermolysis bullosa simplex superficialis - 'Epidermolysis bullosa simplex superficialis' SubClassOf 'part_of' some 'Suprabasal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex superficialis' SubClassOf 'disease' - 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Epidermolysis bullosa simplex superficialis' SubClassOf 'disease' + 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex superficialis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Suprabasal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex superficialis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119206 Label: coiled-coil domain containing 6 - 'coiled-coil domain containing 6' SubClassOf 'gene' - 'coiled-coil domain containing 6' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'coiled-coil domain containing 6' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'coiled-coil domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231397 Label: SET binding protein 1 - 'SET binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schinzel-Giedion syndrome' - 'SET binding protein 1' SubClassOf 'gene' + 'SET binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Schinzel-Giedion syndrome' + 'SET binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'SET binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_89838 Label: Autosomal recessive epidermolysis bullosa simplex - 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'disease' + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Autosomal recessive epidermolysis bullosa simplex' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119202 Label: coiled-coil and C2 domain containing 1A - 'coiled-coil and C2 domain containing 1A' SubClassOf 'gene' - 'coiled-coil and C2 domain containing 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'coiled-coil and C2 domain containing 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil and C2 domain containing 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil and C2 domain containing 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_231393 Label: Beta-thalassemia - X-linked thrombocytopenia - 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'part_of' some 'Beta-thalassemia with other manifestations' - 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'disease' - 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'has_prevalence' some 'Unknown' + 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia with other manifestations' + 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'disease' + 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_90389 Label: Telangiectasia macularis eruptiva perstans - 'Telangiectasia macularis eruptiva perstans' SubClassOf 'clinical subtype' - 'Telangiectasia macularis eruptiva perstans' SubClassOf 'part_of' some 'Maculopapular cutaneous mastocytosis' + 'Telangiectasia macularis eruptiva perstans' SubClassOf 'clinical subtype' + 'Telangiectasia macularis eruptiva perstans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maculopapular cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_306436 Label: Congenital sucrase-isomaltase deficiency with starch intolerance - 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'clinical subtype' - 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_363972 Label: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'malformation syndrome' - 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'malformation syndrome' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_306431 Label: Acquired adult-onset immunodeficiency - 'Acquired adult-onset immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired adult-onset immunodeficiency' SubClassOf 'part_of' some 'Acquired immunodeficiency' - 'Acquired adult-onset immunodeficiency' SubClassOf 'disease' - 'Acquired adult-onset immunodeficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired adult-onset immunodeficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Acquired adult-onset immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired adult-onset immunodeficiency' SubClassOf 'disease' + 'Acquired adult-onset immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired adult-onset immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_363976 Label: Giant cell tumor of bone - 'Giant cell tumor of bone' SubClassOf 'part_of' some 'Bone sarcoma' - 'Giant cell tumor of bone' SubClassOf 'disease' + 'Giant cell tumor of bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Giant cell tumor of bone' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35612 Label: Nanophthalmia - 'Nanophthalmia' SubClassOf 'part_of' some 'Isolated anophthalmia - microphthalmia' - 'Nanophthalmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nanophthalmia' SubClassOf 'malformation syndrome' - 'Nanophthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nanophthalmia' SubClassOf 'has_prevalence' some 'Unknown' - 'Nanophthalmia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nanophthalmia' SubClassOf 'has_inheritance' some 'sporadic' + 'Nanophthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nanophthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nanophthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nanophthalmia' SubClassOf 'malformation syndrome' + 'Nanophthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nanophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anophthalmia - microphthalmia' + 'Nanophthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_211047 Label: Specific learning disability - 'Specific learning disability' SubClassOf 'group of disorders' + 'Specific learning disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85329 Label: X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85328 Label: X-linked intellectual disability, Turner type - 'X-linked intellectual disability, Turner type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Turner type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Turner type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Turner type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Turner type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Turner type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Turner type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Turner type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85327 Label: X-linked intellectual disability - acromegaly - hyperactivity - 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'disease' - 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'disease' + 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_85326 Label: X-linked intellectual disability, Stoll type - 'X-linked intellectual disability, Stoll type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Stoll type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Stoll type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Stoll type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Stoll type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Stoll type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Stoll type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Stoll type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Stoll type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Stoll type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stoll type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Stoll type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Stoll type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_357791 Label: BMS1 ribosome biogenesis factor - 'BMS1 ribosome biogenesis factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Circumscribed cutaneous aplasia of the vertex' - 'BMS1 ribosome biogenesis factor' SubClassOf 'gene' + 'BMS1 ribosome biogenesis factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BMS1 ribosome biogenesis factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Circumscribed cutaneous aplasia of the vertex' + 'BMS1 ribosome biogenesis factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85325 Label: X-linked intellectual disability, Stevenson type - 'X-linked intellectual disability, Stevenson type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Stevenson type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Stevenson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Stevenson type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Stevenson type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Stevenson type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stevenson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Stevenson type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Stevenson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Stevenson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stevenson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Stevenson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_254793 Label: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138447 Label: Fanconi anemia, complementation group I - 'Fanconi anemia, complementation group I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'Fanconi anemia, complementation group I' SubClassOf 'gene' + 'Fanconi anemia, complementation group I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118044 Label: prokineticin receptor 2 - 'prokineticin receptor 2' SubClassOf 'gene' - 'prokineticin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'prokineticin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'prokineticin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'prokineticin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'prokineticin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prokineticin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'prokineticin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'prokineticin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85334 Label: X-linked neurodegenerative syndrome, Bertini type - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'malformation syndrome' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'disease' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2801 Label: Juvenile Paget disease - 'Juvenile Paget disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile Paget disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile Paget disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile Paget disease' SubClassOf 'malformation syndrome' - 'Juvenile Paget disease' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Juvenile Paget disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile Paget disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile Paget disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile Paget disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Juvenile Paget disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85335 Label: Fried syndrome - 'Fried syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fried syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Fried syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Fried syndrome' SubClassOf 'malformation syndrome' - 'Fried syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fried syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Fried syndrome' SubClassOf 'malformation syndrome' + 'Fried syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fried syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fried syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Fried syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2802 Label: X-linked sideroblastic anemia with ataxia - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'disease' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked sideroblastic anemia with ataxia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'X-linked sideroblastic anemia with ataxia' SubClassOf 'disease' + 'X-linked sideroblastic anemia with ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked sideroblastic anemia with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'X-linked sideroblastic anemia with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked sideroblastic anemia with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unspecified mitochondrial disorder' + 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked sideroblastic anemia with ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85332 Label: X-linked intellectual disability-retinitis pigmentosa syndrome - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome X' - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'disease' - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'disease' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome X' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2800 Label: Extramammary Paget disease - 'Extramammary Paget disease' SubClassOf 'part_of' some 'Rare gynecological tumor' - 'Extramammary Paget disease' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Extramammary Paget disease' SubClassOf 'disease' + 'Extramammary Paget disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Extramammary Paget disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gynecological tumor' + 'Extramammary Paget disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85330 Label: X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'disease' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'disease' + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_85331 Label: X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'disease' - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'disease' + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_85337 Label: X-linked intellectual disability, Zorick type - 'X-linked intellectual disability, Zorick type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Zorick type' SubClassOf 'disease' - 'X-linked intellectual disability, Zorick type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Zorick type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Zorick type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Zorick type' SubClassOf 'disease' + 'X-linked intellectual disability, Zorick type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Zorick type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Zorick type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Zorick type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Zorick type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_85336 Label: X-linked neurodegenerative syndrome, Hamel type - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'disease' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'disease' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_85338 Label: X-linked intellectual disability - ataxia - apraxia - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'disease' - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'disease' + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - ataxia - apraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_211053 Label: Specific language disorder - 'Specific language disorder' SubClassOf 'group of disorders' + 'Specific language disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118056 Label: pre-mRNA processing factor 3 - 'pre-mRNA processing factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'pre-mRNA processing factor 3' SubClassOf 'gene' + 'pre-mRNA processing factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'pre-mRNA processing factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123290 Label: malonyl-CoA decarboxylase - 'malonyl-CoA decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malonic aciduria' - 'malonyl-CoA decarboxylase' SubClassOf 'gene' + 'malonyl-CoA decarboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'malonyl-CoA decarboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'malonyl-CoA decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malonic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_399302 Label: Primary avascular necrosis - 'Primary avascular necrosis' SubClassOf 'group of disorders' + 'Primary avascular necrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118051 Label: PROP paired-like homeobox 1 - 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' - 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' - 'PROP paired-like homeobox 1' SubClassOf 'gene' - 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' + 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'PROP paired-like homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string + 'PROP paired-like homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'PROP paired-like homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123294 Label: methylmalonic aciduria (cobalamin deficiency) cblA type - 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'gene' - 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia type cblA' + 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia type cblA' Class: http://www.orpha.net/ORDO/Orphanet_123296 Label: methylmalonic aciduria (cobalamin deficiency) cblB type - 'methylmalonic aciduria (cobalamin deficiency) cblB type' SubClassOf 'gene' - 'methylmalonic aciduria (cobalamin deficiency) cblB type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia type cblB' + 'methylmalonic aciduria (cobalamin deficiency) cblB type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonic aciduria (cobalamin deficiency) cblB type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonic aciduria (cobalamin deficiency) cblB type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-responsive methylmalonic acidemia type cblB' Class: http://www.orpha.net/ORDO/Orphanet_118053 Label: protein S (alpha) - 'protein S (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital protein S deficiency' - 'protein S (alpha)' SubClassOf 'gene' + 'protein S (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein S (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital protein S deficiency' + 'protein S (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399307 Label: Idiopathic avascular necrosis - 'Idiopathic avascular necrosis' SubClassOf 'part_of' some 'Primary avascular necrosis' - 'Idiopathic avascular necrosis' SubClassOf 'disease' + 'Idiopathic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary avascular necrosis' + 'Idiopathic avascular necrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138457 Label: telomerase RNA component - 'telomerase RNA component' SubClassOf 'gene' - 'telomerase RNA component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'telomerase RNA component' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'telomerase RNA component' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'telomerase RNA component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'telomerase RNA component' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_138451 Label: telomerase reverse transcriptase - 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' - 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'telomerase reverse transcriptase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' - 'telomerase reverse transcriptase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' - 'telomerase reverse transcriptase' SubClassOf 'gene' + 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'telomerase reverse transcriptase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'telomerase reverse transcriptase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.33"^^http://www.w3.org/2001/XMLSchema#string + 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'telomerase reverse transcriptase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' + 'telomerase reverse transcriptase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'telomerase reverse transcriptase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_69077 Label: Rhabdoid tumor - 'Rhabdoid tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Rhabdoid tumor' SubClassOf 'disease' - 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rhabdoid tumor' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Rhabdoid tumor' SubClassOf 'disease' + 'Rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_54251 Label: Corticosteroid-sensitive aseptic abscess syndrome - 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'disease' - 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'disease' + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_69078 Label: Liposarcoma - 'Liposarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Liposarcoma' SubClassOf 'disease' - 'Liposarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Liposarcoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Liposarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Liposarcoma' SubClassOf 'disease' + 'Liposarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Liposarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2816 Label: Spastic paraplegia - epilepsy - intellectual disability - 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'disease' + 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'disease' + 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2815 Label: Spastic paraparesis - deafness - 'Spastic paraparesis - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Spastic paraparesis - deafness' SubClassOf 'malformation syndrome' - 'Spastic paraparesis - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Spastic paraparesis - deafness' SubClassOf 'malformation syndrome' + 'Spastic paraparesis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Spastic paraparesis - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_307995 Label: Marginal papular palmoplantar keratoderma - 'Marginal papular palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Marginal papular palmoplantar keratoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Marginal papular palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227058 Label: feline leukemia virus subgroup C cellular receptor family, member 2 - 'feline leukemia virus subgroup C cellular receptor family, member 2' SubClassOf 'gene' - 'feline leukemia virus subgroup C cellular receptor family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fowler syndrome' + 'feline leukemia virus subgroup C cellular receptor family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fowler syndrome' + 'feline leukemia virus subgroup C cellular receptor family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'feline leukemia virus subgroup C cellular receptor family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2819 Label: Spastic paraplegia - facial-cutaneous lesions - 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'malformation syndrome' + 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_69076 Label: Renal glucosuria - 'Renal glucosuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Renal glucosuria' SubClassOf 'part_of' some 'Glucose transport disorder' - 'Renal glucosuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Renal glucosuria' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Renal glucosuria' SubClassOf 'disease' - 'Renal glucosuria' SubClassOf 'has_prevalence' some 'Unknown' + 'Renal glucosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Renal glucosuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Renal glucosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2818 Label: Spastic paraplegia - glaucoma - intellectual disability - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'disease' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'disease' + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_211067 Label: Episodic ataxia type 5 - 'Episodic ataxia type 5' SubClassOf 'disease' - 'Episodic ataxia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Episodic ataxia type 5' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia type 5' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Episodic ataxia type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Episodic ataxia type 5' SubClassOf 'disease' + 'Episodic ataxia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Episodic ataxia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Episodic ataxia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Episodic ataxia type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_211062 Label: Hereditary episodic ataxia - 'Hereditary episodic ataxia' SubClassOf 'group of disorders' + 'Hereditary episodic ataxia' SubClassOf 'group of disorders' + 'Hereditary episodic ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_275944 Label: Hemolytic disease of the newborn with Kell alloimmunization - 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'disease' - 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'part_of' some 'Hemolytic disease due to fetomaternal alloimmunization' + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'disease' + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "116.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic disease due to fetomaternal alloimmunization' Class: http://www.orpha.net/ORDO/Orphanet_304165 Label: FK506 binding protein 14, 22 kDa - 'FK506 binding protein 14, 22 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' - 'FK506 binding protein 14, 22 kDa' SubClassOf 'gene' + 'FK506 binding protein 14, 22 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'FK506 binding protein 14, 22 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' + 'FK506 binding protein 14, 22 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118066 Label: pre-mRNA processing factor 8 - 'pre-mRNA processing factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'pre-mRNA processing factor 8' SubClassOf 'gene' + 'pre-mRNA processing factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'pre-mRNA processing factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269752 Label: component of oligomeric golgi complex 5 - 'component of oligomeric golgi complex 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG5-CDG' - 'component of oligomeric golgi complex 5' SubClassOf 'gene' + 'component of oligomeric golgi complex 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG5-CDG' + 'component of oligomeric golgi complex 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'component of oligomeric golgi complex 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123286 Label: MLX interacting protein-like - 'MLX interacting protein-like' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'MLX interacting protein-like' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_118061 Label: pre-mRNA processing factor 31 - 'pre-mRNA processing factor 31' SubClassOf 'gene' - 'pre-mRNA processing factor 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pre-mRNA processing factor 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'pre-mRNA processing factor 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_2820 Label: Spastic paraplegia - nephritis - deafness - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'clinical syndrome' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Spastic paraplegia - nephritis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Spastic paraplegia - nephritis - deafness' SubClassOf 'clinical syndrome' + 'Spastic paraplegia - nephritis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Spastic paraplegia - nephritis - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spastic paraplegia - nephritis - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spastic paraplegia - nephritis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_227053 Label: solute carrier family 52 (riboflavin transporter), member 3 - 'solute carrier family 52 (riboflavin transporter), member 3' SubClassOf 'gene' - 'solute carrier family 52 (riboflavin transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' + 'solute carrier family 52 (riboflavin transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 52 (riboflavin transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' + 'solute carrier family 52 (riboflavin transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138462 Label: interleukin 6 - 'interleukin 6' SubClassOf 'gene' - 'interleukin 6' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' + 'interleukin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21-p15"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 6' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_2823 Label: Paraplegia - brachydactyly - cone-shaped epiphysis - 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'malformation syndrome' - 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'malformation syndrome' + 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_138467 Label: nucleoporin 62kDa - 'nucleoporin 62kDa' SubClassOf 'gene' - 'nucleoporin 62kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' + 'nucleoporin 62kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleoporin 62kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'nucleoporin 62kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_2824 Label: Paraplegia - intellectual disability - hyperkeratosis - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'malformation syndrome' + 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'malformation syndrome' + 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289902 Label: 3-methylglutaconic aciduria - '3-methylglutaconic aciduria' SubClassOf 'group of disorders' + '3-methylglutaconic aciduria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2821 Label: Spastic paraplegia - neuropathy - poikiloderma - 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'disease' + 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2822 Label: Autosomal recessive spastic paraplegia type 11 - 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_269756 Label: dolichyl-phosphate mannosyltransferase polypeptide 3 - 'dolichyl-phosphate mannosyltransferase polypeptide 3' SubClassOf 'gene' - 'dolichyl-phosphate mannosyltransferase polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPM3-CDG' + 'dolichyl-phosphate mannosyltransferase polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPM3-CDG' + 'dolichyl-phosphate mannosyltransferase polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'dolichyl-phosphate mannosyltransferase polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2804 Label: W syndrome - 'W syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'W syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'W syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'W syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'W syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'W syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'W syndrome' SubClassOf 'malformation syndrome' - 'W syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'W syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'W syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'W syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'W syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'W syndrome' SubClassOf 'malformation syndrome' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85317 Label: X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_69088 Label: Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'part_of' some 'Osteopetrosis' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'disease' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'disease' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2806 Label: Subacute sclerosing leukoencephalitis - 'Subacute sclerosing leukoencephalitis' SubClassOf 'disease' - 'Subacute sclerosing leukoencephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Subacute sclerosing leukoencephalitis' SubClassOf 'part_of' some 'Chronic encephalitis' - 'Subacute sclerosing leukoencephalitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Subacute sclerosing leukoencephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Subacute sclerosing leukoencephalitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Subacute sclerosing leukoencephalitis' SubClassOf 'disease' + 'Subacute sclerosing leukoencephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Subacute sclerosing leukoencephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Subacute sclerosing leukoencephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.003"^^http://www.w3.org/2001/XMLSchema#string) + 'Subacute sclerosing leukoencephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Subacute sclerosing leukoencephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Subacute sclerosing leukoencephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic encephalitis' + 'Subacute sclerosing leukoencephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2805 Label: Partial pancreatic agenesis - 'Partial pancreatic agenesis' SubClassOf 'morphological anomaly' - 'Partial pancreatic agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Partial pancreatic agenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Partial pancreatic agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Partial pancreatic agenesis' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' + 'Partial pancreatic agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Partial pancreatic agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Partial pancreatic agenesis' SubClassOf 'morphological anomaly' + 'Partial pancreatic agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Partial pancreatic agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Partial pancreatic agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_85319 Label: X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2808 Label: Laryngeal abductor paralysis - 'Laryngeal abductor paralysis' SubClassOf 'malformation syndrome' - 'Laryngeal abductor paralysis' SubClassOf 'part_of' some 'Larynx anomaly' + 'Laryngeal abductor paralysis' SubClassOf 'malformation syndrome' + 'Laryngeal abductor paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85318 Label: X-linked intellectual disability - precocious puberty - obesity - 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_69087 Label: Naegeli-Franceschetti-Jadassohn syndrome - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'disease' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2807 Label: Papilloma of choroid plexus - 'Papilloma of choroid plexus' SubClassOf 'disease' - 'Papilloma of choroid plexus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Papilloma of choroid plexus' SubClassOf 'part_of' some 'Choroid plexus tumor' + 'Papilloma of choroid plexus' SubClassOf 'disease' + 'Papilloma of choroid plexus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Papilloma of choroid plexus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choroid plexus tumor' Class: http://www.orpha.net/ORDO/Orphanet_69084 Label: Pure hair and nail ectodermal dysplasia - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'malformation syndrome' - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pure hair and nail ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pure hair and nail ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Pure hair and nail ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pure hair and nail ectodermal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_69085 Label: Limb-mammary syndrome - 'Limb-mammary syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Limb-mammary syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Limb-mammary syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Limb-mammary syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Limb-mammary syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Limb-mammary syndrome' SubClassOf 'malformation syndrome' - 'Limb-mammary syndrome' SubClassOf 'part_of' some 'EEC syndrome and related syndrome' - 'Limb-mammary syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'EEC syndrome and related syndrome' + 'Limb-mammary syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Limb-mammary syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Limb-mammary syndrome' SubClassOf 'malformation syndrome' + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' + 'Limb-mammary syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Limb-mammary syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2809 Label: Familial recurrent peripheral facial palsy - 'Familial recurrent peripheral facial palsy' SubClassOf 'disease' - 'Familial recurrent peripheral facial palsy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Familial recurrent peripheral facial palsy' SubClassOf 'disease' + 'Familial recurrent peripheral facial palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_54247 Label: Posterior cortical atrophy - 'Posterior cortical atrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Posterior cortical atrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Rare dementia' - 'Posterior cortical atrophy' SubClassOf 'disease' + 'Posterior cortical atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'Posterior cortical atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Posterior cortical atrophy' SubClassOf 'disease' + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_275938 Label: Hemolytic disease due to fetomaternal alloimmunization - 'Hemolytic disease due to fetomaternal alloimmunization' SubClassOf 'group of disorders' + 'Hemolytic disease due to fetomaternal alloimmunization' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304172 Label: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3' SubClassOf 'gene' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_276402 Label: Limbic encephalitis with caspr2 antibodies - 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' - 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with caspr2 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_118076 Label: phosphoribosyl pyrophosphate synthetase 1 - 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal ataxia with deafness and optic atrophy' - 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 5' - 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoribosylpyrophosphate synthetase superactivity' - 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'gene' - 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' + 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 5' + 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lethal ataxia with deafness and optic atrophy' + 'phosphoribosyl pyrophosphate synthetase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_276405 Label: Hyperbiliverdinemia - 'Hyperbiliverdinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperbiliverdinemia' SubClassOf 'part_of' some 'Rare hepatic disease' - 'Hyperbiliverdinemia' SubClassOf 'part_of' some 'Rare genetic hepatic disease' - 'Hyperbiliverdinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperbiliverdinemia' SubClassOf 'disease' - 'Hyperbiliverdinemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hyperbiliverdinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperbiliverdinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic disease' + 'Hyperbiliverdinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperbiliverdinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperbiliverdinemia' SubClassOf 'disease' + 'Hyperbiliverdinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperbiliverdinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hepatic disease' + 'Hyperbiliverdinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123271 Label: lysine (K)-specific methyltransferase 2A - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Bilineal acute leukemia' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiedemann-Steiner syndrome' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'gene' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Acute biphenotypic leukemia' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Role in the phenotype of' some 'Acute myeloid leukemia with 11q23 abnormalities' - 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Acute undifferentiated leukemia' + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Bilineal acute leukemia' + 'lysine (K)-specific methyltransferase 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'lysine (K)-specific methyltransferase 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiedemann-Steiner syndrome' + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(9;11)(p22;q23)' + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Acute biphenotypic leukemia' + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Role in the phenotype of' some 'Acute myeloid leukemia with 11q23 abnormalities' + 'lysine (K)-specific methyltransferase 2A' SubClassOf 'Part of a fusion gene in' some 'Acute undifferentiated leukemia' Class: http://www.orpha.net/ORDO/Orphanet_118070 Label: peripherin 2 (retinal degeneration, slow) - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Butterfly-shaped pigment dystrophy' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'gene' - 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Butterfly-shaped pigment dystrophy' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' + 'peripherin 2 (retinal degeneration, slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_69083 Label: Ectodermal dysplasia with natal teeth, Turnpenny type - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'has_prevalence' some 'Unknown' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_138472 Label: SIX homeobox 5 - 'SIX homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' - 'SIX homeobox 5' SubClassOf 'gene' + 'SIX homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' + 'SIX homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'SIX homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_69082 Label: Odonto-tricho-ungual-digito-palmar syndrome - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'malformation syndrome' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'malformation syndrome' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_85320 Label: X-linked intellectual disability - macrocephaly - macroorchidism - 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138475 Label: patatin-like phospholipase domain containing 2 - 'patatin-like phospholipase domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neutral lipid storage myopathy' - 'patatin-like phospholipase domain containing 2' SubClassOf 'gene' + 'patatin-like phospholipase domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'patatin-like phospholipase domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'patatin-like phospholipase domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neutral lipid storage myopathy' Class: http://www.orpha.net/ORDO/Orphanet_85321 Label: Deafness - intellectual disability, Martin-Probst type - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'malformation syndrome' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'malformation syndrome' + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - intellectual disability, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2810 Label: Idiopathic facial palsy - 'Idiopathic facial palsy' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Idiopathic facial palsy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Idiopathic facial palsy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic facial palsy' SubClassOf 'disease' + 'Idiopathic facial palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Idiopathic facial palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic facial palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Idiopathic facial palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic facial palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "53.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic facial palsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic facial palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "22.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic facial palsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85322 Label: X-linked intellectual disability, Pai type - 'X-linked intellectual disability, Pai type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Pai type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Pai type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Pai type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Pai type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Pai type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Pai type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Pai type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Pai type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Pai type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Pai type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Pai type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123279 Label: melanophilin - 'melanophilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' - 'melanophilin' SubClassOf 'gene' + 'melanophilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'melanophilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' + 'melanophilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85323 Label: X-linked intellectual disability, Seemanova type - 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Seemanova type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Seemanova type' SubClassOf 'disease' - 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Seemanova type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Seemanova type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Seemanova type' SubClassOf 'disease' + 'X-linked intellectual disability, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2812 Label: Parana hard-skin syndrome - 'Parana hard-skin syndrome' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Parana hard-skin syndrome' SubClassOf 'disease' + 'Parana hard-skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Parana hard-skin syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85324 Label: X-linked intellectual disability, Shrimpton type - 'X-linked intellectual disability, Shrimpton type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Shrimpton type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Shrimpton type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Shrimpton type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Shrimpton type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Shrimpton type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281082 Label: Inherited non-syndromic ichthyosis - 'Inherited non-syndromic ichthyosis' SubClassOf 'group of disorders' + 'Inherited non-syndromic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited non-syndromic ichthyosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306486 Label: Congenital sucrase-isomaltase deficiency without sucrose intolerance - 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' - 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_163895 Label: Paraneoplastic limbic encephalitis - 'Paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' + 'Paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227079 Label: transmembrane protein 127 - 'transmembrane protein 127' SubClassOf 'Major susceptibility factor in' some 'Clear cell renal carcinoma' - 'transmembrane protein 127' SubClassOf 'gene' - 'transmembrane protein 127' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' + 'transmembrane protein 127' SubClassOf 'Major susceptibility factor in' some 'Clear cell renal carcinoma' + 'transmembrane protein 127' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 127' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 127' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_254749 Label: Tricarboxylic acid cycle disorder - 'Tricarboxylic acid cycle disorder' SubClassOf 'group of disorders' + 'Tricarboxylic acid cycle disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_365089 Label: glutamate receptor, ionotropic, delta 2 - 'glutamate receptor, ionotropic, delta 2' SubClassOf 'gene' - 'glutamate receptor, ionotropic, delta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' + 'glutamate receptor, ionotropic, delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' + 'glutamate receptor, ionotropic, delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, ionotropic, delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_227077 Label: myosin binding protein C, slow type - 'myosin binding protein C, slow type' SubClassOf 'gene' - 'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' - 'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'myosin binding protein C, slow type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' + 'myosin binding protein C, slow type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' Class: http://www.orpha.net/ORDO/Orphanet_211008 Label: major histocompatibility complex, class II, DQ beta 1 - 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Bullous pemphigoid' - 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy without cataplexy' - 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'gene' + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Bullous pemphigoid' + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy without cataplexy' + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic achalasia' + 'major histocompatibility complex, class II, DQ beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_365084 Label: chondroitin sulfate synthase 1 - 'chondroitin sulfate synthase 1' SubClassOf 'gene' - 'chondroitin sulfate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Temtamy preaxial brachydactyly syndrome' + 'chondroitin sulfate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'chondroitin sulfate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Temtamy preaxial brachydactyly syndrome' + 'chondroitin sulfate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_281085 Label: Inherited ichthyosis syndromic form - 'Inherited ichthyosis syndromic form' SubClassOf 'group of disorders' + 'Inherited ichthyosis syndromic form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited ichthyosis syndromic form' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_54272 Label: Hepatocellular adenoma - 'Hepatocellular adenoma' SubClassOf 'disease' - 'Hepatocellular adenoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatocellular adenoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hepatocellular adenoma' SubClassOf 'part_of' some 'Rare hepatic tumor' + 'Hepatocellular adenoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hepatocellular adenoma' SubClassOf 'disease' + 'Hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_289916 Label: Vitamin B12-unresponsive methylmalonic acidemia type mut0 - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'clinical subtype' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_prevalence' some 'Unknown' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'part_of' some 'Vitamin B12-unresponsive methylmalonic acidemia' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-unresponsive methylmalonic acidemia' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'clinical subtype' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_163892 Label: Limbic encephalitis - 'Limbic encephalitis' SubClassOf 'group of disorders' + 'Limbic encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227071 Label: taperin - 'taperin' SubClassOf 'gene' - 'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'taperin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'taperin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_52901 Label: Isolated follicle stimulating hormone deficiency - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'disease' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'disease' + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_48431 Label: Congenital cataracts - facial dysmorphism - neuropathy - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'malformation syndrome' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Cerebral disease with cataract' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' - 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'malformation syndrome' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral disease with cataract' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebellar ataxia with peripheral neuropathy' + 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_118014 Label: protein kinase C, gamma - 'protein kinase C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 14' - 'protein kinase C, gamma' SubClassOf 'gene' + 'protein kinase C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 14' + 'protein kinase C, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase C, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_281090 Label: Syndromic X-linked ichthyosis - 'Syndromic X-linked ichthyosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Syndromic X-linked ichthyosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Syndromic X-linked ichthyosis' SubClassOf 'part_of' some 'X-linked ichthyosis syndrome' - 'Syndromic X-linked ichthyosis' SubClassOf 'disease' - 'Syndromic X-linked ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Syndromic X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked ichthyosis syndrome' + 'Syndromic X-linked ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Syndromic X-linked ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Syndromic X-linked ichthyosis' SubClassOf 'disease' + 'Syndromic X-linked ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_211017 Label: Spinocerebellar ataxia type 30 - 'Spinocerebellar ataxia type 30' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 30' SubClassOf 'disease' - 'Spinocerebellar ataxia type 30' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 30' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 30' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 30' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 30' SubClassOf 'disease' + 'Spinocerebellar ataxia type 30' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 30' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 30' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' Class: http://www.orpha.net/ORDO/Orphanet_254758 Label: Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_69063 Label: Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization - 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'disease' + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'disease' + 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_306498 Label: PTEN hamartoma tumor syndrome - 'PTEN hamartoma tumor syndrome' SubClassOf 'group of disorders' + 'PTEN hamartoma tumor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'PTEN hamartoma tumor syndrome' SubClassOf 'group of disorders' + 'PTEN hamartoma tumor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_48435 Label: Postinfectious vasculitis - 'Postinfectious vasculitis' SubClassOf 'part_of' some 'Vasculitis' - 'Postinfectious vasculitis' SubClassOf 'disease' + 'Postinfectious vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vasculitis' + 'Postinfectious vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Postinfectious vasculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Postinfectious vasculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281097 Label: Autosomal recessive congenital ichthyosis - 'Autosomal recessive congenital ichthyosis' SubClassOf 'group of disorders' + 'Autosomal recessive congenital ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive congenital ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive congenital ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive congenital ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive congenital ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive congenital ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive congenital ichthyosis' SubClassOf 'group of disorders' + 'Autosomal recessive congenital ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_54260 Label: Left ventricular noncompaction - 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Left ventricular noncompaction' SubClassOf 'part_of' some 'Rare genetic cardiac disease' - 'Left ventricular noncompaction' SubClassOf 'has_prevalence' some 'Unknown' - 'Left ventricular noncompaction' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Left ventricular noncompaction' SubClassOf 'disease' - 'Left ventricular noncompaction' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' + 'Left ventricular noncompaction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "175.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified cardiomyopathy' + 'Left ventricular noncompaction' SubClassOf 'disease' + 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic cardiac disease' + 'Left ventricular noncompaction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Left ventricular noncompaction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_69061 Label: Idiopathic steroid-sensitive nephrotic syndrome - 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'part_of' some 'Idiopathic nephrotic syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'clinical syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic nephrotic syndrome' + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_227063 Label: parathyroid hormone-like hormone - 'parathyroid hormone-like hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type E' - 'parathyroid hormone-like hormone' SubClassOf 'gene' + 'parathyroid hormone-like hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type E' + 'parathyroid hormone-like hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.1-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'parathyroid hormone-like hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163898 Label: Classic paraneoplastic limbic encephalitis - 'Classic paraneoplastic limbic encephalitis' SubClassOf 'part_of' some 'Paraneoplastic limbic encephalitis' - 'Classic paraneoplastic limbic encephalitis' SubClassOf 'disease' + 'Classic paraneoplastic limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic limbic encephalitis' + 'Classic paraneoplastic limbic encephalitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254767 Label: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118010 Label: protein kinase, cAMP-dependent, regulatory, type I, alpha - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'gene' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial myxoma' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex' - 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial myxoma' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex' + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_91088 Label: Other metabolic disease - 'Other metabolic disease' SubClassOf 'group of disorders' + 'Other metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_25968 Label: Benign occipital epilepsy - 'Benign occipital epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Benign occipital epilepsy' SubClassOf 'disease' + 'Benign occipital epilepsy' SubClassOf 'disease' + 'Benign occipital epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269762 Label: component of oligomeric golgi complex 4 - 'component of oligomeric golgi complex 4' SubClassOf 'gene' - 'component of oligomeric golgi complex 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG4-CDG' + 'component of oligomeric golgi complex 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'component of oligomeric golgi complex 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG4-CDG' Class: http://www.orpha.net/ORDO/Orphanet_95159 Label: Hepatoerythropoietic porphyria - 'Hepatoerythropoietic porphyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hepatoerythropoietic porphyria' SubClassOf 'disease' - 'Hepatoerythropoietic porphyria' SubClassOf 'part_of' some 'Chronic hepatic porphyria' + 'Hepatoerythropoietic porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hepatoerythropoietic porphyria' SubClassOf 'disease' + 'Hepatoerythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_171045 Label: solute carrier family 2 (facilitated glucose transporter), member 9 - 'solute carrier family 2 (facilitated glucose transporter), member 9' SubClassOf 'gene' - 'solute carrier family 2 (facilitated glucose transporter), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary renal hypouricemia' + 'solute carrier family 2 (facilitated glucose transporter), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 2 (facilitated glucose transporter), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary renal hypouricemia' + 'solute carrier family 2 (facilitated glucose transporter), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118023 Label: prion protein - 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal familial insomnia' - 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' - 'prion protein' SubClassOf 'Major susceptibility factor in' some 'Familial Alzheimer-like prion disease' - 'prion protein' SubClassOf 'gene' - 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like 1' - 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited Creutzfeldt-Jakob disease' - 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gerstmann-Straussler-Scheinker syndrome' + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal familial insomnia' + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' + 'prion protein' SubClassOf 'Major susceptibility factor in' some 'Familial Alzheimer-like prion disease' + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like 1' + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited Creutzfeldt-Jakob disease' + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gerstmann-Straussler-Scheinker syndrome' + 'prion protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prion protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_141327 Label: Orofaciodigital syndrome type 12 - 'Orofaciodigital syndrome type 12' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 12' SubClassOf 'part_of' some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 12' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141333 Label: Biemond syndrome type 2 - 'Biemond syndrome type 2' SubClassOf 'disease' - 'Biemond syndrome type 2' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Biemond syndrome type 2' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Biemond syndrome type 2' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Biemond syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Biemond syndrome type 2' SubClassOf 'disease' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_227095 Label: serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) - 'serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254776 Label: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141330 Label: Orofaciodigital syndrome type 13 - 'Orofaciodigital syndrome type 13' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 13' SubClassOf 'part_of' some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 13' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269799 Label: meningioma (disrupted in balanced translocation) 1 - 'meningioma (disrupted in balanced translocation) 1' SubClassOf 'gene' - 'meningioma (disrupted in balanced translocation) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' + 'meningioma (disrupted in balanced translocation) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' + 'meningioma (disrupted in balanced translocation) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'meningioma (disrupted in balanced translocation) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95161 Label: Chronic hepatic porphyria - 'Chronic hepatic porphyria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chronic hepatic porphyria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Chronic hepatic porphyria' SubClassOf 'group of disorders' - 'Chronic hepatic porphyria' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Chronic hepatic porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Chronic hepatic porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic hepatic porphyria' SubClassOf 'group of disorders' + 'Chronic hepatic porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_118020 Label: protein kinase C substrate 80K-H - 'protein kinase C substrate 80K-H' SubClassOf 'gene' - 'protein kinase C substrate 80K-H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' + 'protein kinase C substrate 80K-H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase C substrate 80K-H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase C substrate 80K-H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_171038 Label: DDB1 and CUL4 associated factor 17 - 'DDB1 and CUL4 associated factor 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woodhouse-Sakati syndrome' - 'DDB1 and CUL4 associated factor 17' SubClassOf 'gene' + 'DDB1 and CUL4 associated factor 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DDB1 and CUL4 associated factor 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Woodhouse-Sakati syndrome' + 'DDB1 and CUL4 associated factor 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118039 Label: prokineticin 2 - 'prokineticin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'prokineticin 2' SubClassOf 'gene' - 'prokineticin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'prokineticin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prokineticin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'prokineticin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'prokineticin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_171034 Label: glucose 6 phosphatase, catalytic, 3 - 'glucose 6 phosphatase, catalytic, 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' - 'glucose 6 phosphatase, catalytic, 3' SubClassOf 'gene' + 'glucose 6 phosphatase, catalytic, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucose 6 phosphatase, catalytic, 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' + 'glucose 6 phosphatase, catalytic, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_365096 Label: IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) - 'IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)' SubClassOf 'gene' - 'IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' + 'IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.13"^^http://www.w3.org/2001/XMLSchema#string + 'IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_227089 Label: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog - 'VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis - renal dysfunction - cholestasis' - 'VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog' SubClassOf 'gene' + 'VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3-q31"^^http://www.w3.org/2001/XMLSchema#string + 'VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis - renal dysfunction - cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_211037 Label: Autosomal dominant proximal spinal muscular atrophy - 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'group of disorders' + 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_25980 Label: X-linked myopathy with excessive autophagy - 'X-linked myopathy with excessive autophagy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked myopathy with excessive autophagy' SubClassOf 'disease' - 'X-linked myopathy with excessive autophagy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked myopathy with excessive autophagy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'X-linked myopathy with excessive autophagy' SubClassOf 'part_of' some 'Inclusion myopathy' + 'X-linked myopathy with excessive autophagy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked myopathy with excessive autophagy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'X-linked myopathy with excessive autophagy' SubClassOf 'disease' + 'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked myopathy with excessive autophagy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'X-linked myopathy with excessive autophagy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_254788 Label: Maternally-inherited mitochondrial myopathy - 'Maternally-inherited mitochondrial myopathy' SubClassOf 'group of disorders' + 'Maternally-inherited mitochondrial myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227086 Label: polymerase I and transcript release factor - 'polymerase I and transcript release factor' SubClassOf 'gene' - 'polymerase I and transcript release factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized congenital lipodystrophy with myopathy' + 'polymerase I and transcript release factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase I and transcript release factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase I and transcript release factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized congenital lipodystrophy with myopathy' Class: http://www.orpha.net/ORDO/Orphanet_227083 Label: X-prolyl aminopeptidase (aminopeptidase P) 3, putative - 'X-prolyl aminopeptidase (aminopeptidase P) 3, putative' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset autosomal recessive medullary cystic kidney disease' - 'X-prolyl aminopeptidase (aminopeptidase P) 3, putative' SubClassOf 'gene' + 'X-prolyl aminopeptidase (aminopeptidase P) 3, putative' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-prolyl aminopeptidase (aminopeptidase P) 3, putative' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'X-prolyl aminopeptidase (aminopeptidase P) 3, putative' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_118032 Label: proline dehydrogenase (oxidase) 1 - 'proline dehydrogenase (oxidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 1' - 'proline dehydrogenase (oxidase) 1' SubClassOf 'gene' + 'proline dehydrogenase (oxidase) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proline dehydrogenase (oxidase) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'proline dehydrogenase (oxidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 1' Class: http://www.orpha.net/ORDO/Orphanet_118030 Label: protein C (inactivator of coagulation factors Va and VIIIa) - 'protein C (inactivator of coagulation factors Va and VIIIa)' SubClassOf 'gene' - 'protein C (inactivator of coagulation factors Va and VIIIa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital protein C deficiency' + 'protein C (inactivator of coagulation factors Va and VIIIa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein C (inactivator of coagulation factors Va and VIIIa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13-q14"^^http://www.w3.org/2001/XMLSchema#string + 'protein C (inactivator of coagulation factors Va and VIIIa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital protein C deficiency' Class: http://www.orpha.net/ORDO/Orphanet_95157 Label: Acute hepatic porphyria - 'Acute hepatic porphyria' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Acute hepatic porphyria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acute hepatic porphyria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute hepatic porphyria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acute hepatic porphyria' SubClassOf 'group of disorders' + 'Acute hepatic porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute hepatic porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acute hepatic porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acute hepatic porphyria' SubClassOf 'group of disorders' + 'Acute hepatic porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_330232 Label: immunoglobulin superfamily, member 1 - 'immunoglobulin superfamily, member 1' SubClassOf 'gene' - 'immunoglobulin superfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' + 'immunoglobulin superfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin superfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin superfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' Class: http://www.orpha.net/ORDO/Orphanet_262776 Label: Partial duplication of the short arm of chromosome 10 - 'Partial duplication of the short arm of chromosome 10' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2870 Label: Peyronie syndrome - 'Peyronie syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2871 Label: Pfeiffer-Palm-Teller syndrome - 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'malformation syndrome' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2874 Label: Phakomatosis pigmentokeratotica - 'Phakomatosis pigmentokeratotica' SubClassOf 'malformation syndrome' - 'Phakomatosis pigmentokeratotica' SubClassOf 'part_of' some 'Rare nevus' - 'Phakomatosis pigmentokeratotica' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Phakomatosis pigmentokeratotica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phakomatosis pigmentokeratotica' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Phakomatosis pigmentokeratotica' SubClassOf 'has_prevalence' some 'Unknown' + 'Phakomatosis pigmentokeratotica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Phakomatosis pigmentokeratotica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Phakomatosis pigmentokeratotica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phakomatosis pigmentokeratotica' SubClassOf 'malformation syndrome' + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' Class: http://www.orpha.net/ORDO/Orphanet_2875 Label: Phakomatosis pigmentovascularis - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Vascular anomaly or angioma' - 'Phakomatosis pigmentovascularis' SubClassOf 'disease' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular anomaly or angioma' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Phakomatosis pigmentovascularis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254723 Label: Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'disease' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Hypertrichosis' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_2872 Label: Cardiocranial syndrome, Pfeiffer type - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'malformation syndrome' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some 'sporadic' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'malformation syndrome' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2878 Label: Phocomelia - ectrodactyly - deafness - sinus arrhythmia - 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'malformation syndrome' - 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'malformation syndrome' + 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2879 Label: Phocomelia, Schinzel type - 'Phocomelia, Schinzel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phocomelia, Schinzel type' SubClassOf 'malformation syndrome' - 'Phocomelia, Schinzel type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Phocomelia, Schinzel type' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Phocomelia, Schinzel type' SubClassOf 'has_prevalence' some 'Unknown' - 'Phocomelia, Schinzel type' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Phocomelia, Schinzel type' SubClassOf 'malformation syndrome' + 'Phocomelia, Schinzel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Phocomelia, Schinzel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Phocomelia, Schinzel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phocomelia, Schinzel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Phocomelia, Schinzel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_123336 Label: acyl-CoA dehydrogenase family, member 8 - 'acyl-CoA dehydrogenase family, member 8' SubClassOf 'gene' - 'acyl-CoA dehydrogenase family, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isobutyryl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase family, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q25"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase family, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isobutyryl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase family, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2876 Label: PHAVER syndrome - 'PHAVER syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PHAVER syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PHAVER syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PHAVER syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PHAVER syndrome' SubClassOf 'malformation syndrome' - 'PHAVER syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'PHAVER syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PHAVER syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PHAVER syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PHAVER syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PHAVER syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PHAVER syndrome' SubClassOf 'malformation syndrome' + 'PHAVER syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123334 Label: acyl-CoA dehydrogenase family, member 9 - 'acyl-CoA dehydrogenase family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'acyl-CoA dehydrogenase family, member 9' SubClassOf 'gene' - 'acyl-CoA dehydrogenase family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acyl-CoA dehydrogenase 9 deficiency' + 'acyl-CoA dehydrogenase family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'acyl-CoA dehydrogenase family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acyl-CoA dehydrogenase 9 deficiency' + 'acyl-CoA dehydrogenase family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90400 Label: Scleromyxedema without monoclonal gammopathy - 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'clinical subtype' - 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'part_of' some 'Atypical lichen myxedematosus' + 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Scleromyxedema without monoclonal gammopathy' SubClassOf 'clinical subtype' + 'Scleromyxedema without monoclonal gammopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scleromyxedema without monoclonal gammopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_31150 Label: Tangier disease - 'Tangier disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tangier disease' SubClassOf 'part_of' some 'Rare hereditary systemic disease with peripheral neuropathy' - 'Tangier disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Tangier disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Tangier disease' SubClassOf 'disease' - 'Tangier disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tangier disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tangier disease' SubClassOf 'part_of' some 'Hypoalphalipoproteinemia' - 'Tangier disease' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Tangier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tangier disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tangier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tangier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tangier disease' SubClassOf 'disease' + 'Tangier disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoalphalipoproteinemia' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2869 Label: Peutz-Jeghers syndrome - 'Peutz-Jeghers syndrome' SubClassOf 'disease' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Pigmented conjunctival lesion' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Peutz-Jeghers syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Peutz-Jeghers syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Palpebral lentiginosis' - 'Peutz-Jeghers syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Peutz-Jeghers syndrome' SubClassOf 'disease' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral lentiginosis' + 'Peutz-Jeghers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Peutz-Jeghers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Peutz-Jeghers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Peutz-Jeghers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Peutz-Jeghers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Peutz-Jeghers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Peutz-Jeghers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410227) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmented conjunctival lesion' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_207067 Label: Qualitative or quantitative defects of gamma-sarcoglycan - 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377682 Label: GDP-mannose pyrophosphorylase A - 'GDP-mannose pyrophosphorylase A' SubClassOf 'gene' - 'GDP-mannose pyrophosphorylase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triple A syndrome' + 'GDP-mannose pyrophosphorylase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36.1"^^http://www.w3.org/2001/XMLSchema#string + 'GDP-mannose pyrophosphorylase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GDP-mannose pyrophosphorylase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Triple A syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207060 Label: Qualitative or quantitative defects of alpha-sarcoglycan - 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31153 Label: Hypoalphalipoproteinemia - 'Hypoalphalipoproteinemia' SubClassOf 'group of disorders' + 'Hypoalphalipoproteinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31154 Label: Hypobetalipoproteinemia - 'Hypobetalipoproteinemia' SubClassOf 'group of disorders' + 'Hypobetalipoproteinemia' SubClassOf 'group of disorders' + 'Hypobetalipoproteinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_207063 Label: Qualitative or quantitative defects of beta-sarcoglycan - 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262767 Label: Partial trisomy of the short arm of chromosome 9 - 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'group of disorders' + 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93293 Label: Okihiro syndrome - 'Okihiro syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Okihiro syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Okihiro syndrome' SubClassOf 'malformation syndrome' - 'Okihiro syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Okihiro syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Okihiro syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Okihiro syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Okihiro syndrome' SubClassOf 'malformation syndrome' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' Class: http://www.orpha.net/ORDO/Orphanet_123340 Label: H19, imprinted maternally expressed transcript (non-protein coding) - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Nephroblastoma' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to 11p15 microduplication' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'gene' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' - 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to imprinting defect of 11p15' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Nephroblastoma' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to 11p15 microduplication' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to imprinting defect of 11p15' + 'H19, imprinted maternally expressed transcript (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' Class: http://www.orpha.net/ORDO/Orphanet_262785 Label: Partial duplication of the short arm of chromosome 11 - 'Partial duplication of the short arm of chromosome 11' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93292 Label: Pancreatic adenoma - 'Pancreatic adenoma' SubClassOf 'disease' - 'Pancreatic adenoma' SubClassOf 'part_of' some 'Rare abdominal surgical disease' + 'Pancreatic adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Pancreatic adenoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_319465 Label: Inherited acute myeloid leukemia - 'Inherited acute myeloid leukemia' SubClassOf 'disease' - 'Inherited acute myeloid leukemia' SubClassOf 'part_of' some 'Acute myeloid leukemia' - 'Inherited acute myeloid leukemia' SubClassOf 'part_of' some 'Genetic tumor of hematopoietic and lymphoid tissues' + 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia' + 'Inherited acute myeloid leukemia' SubClassOf 'disease' + 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic tumor of hematopoietic and lymphoid tissues' Class: http://www.orpha.net/ORDO/Orphanet_159055 Label: troponin C type 1 (slow) - 'troponin C type 1 (slow)' SubClassOf 'gene' - 'troponin C type 1 (slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'troponin C type 1 (slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'troponin C type 1 (slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'troponin C type 1 (slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_119297 Label: cyclin-dependent kinase-like 5 - 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' - 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' - 'cyclin-dependent kinase-like 5' SubClassOf 'gene' + 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'cyclin-dependent kinase-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319462 Label: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf 'disease' + 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf 'disease' + 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99049 Label: Pulmonary artery coming from patent ductus arteriosus - 'Pulmonary artery coming from patent ductus arteriosus' SubClassOf 'morphological anomaly' - 'Pulmonary artery coming from patent ductus arteriosus' SubClassOf 'part_of' some 'Abnormal origin of the pulmonary artery' + 'Pulmonary artery coming from patent ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin of the pulmonary artery' + 'Pulmonary artery coming from patent ductus arteriosus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99048 Label: Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus - 'Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus' SubClassOf 'part_of' some 'Pulmonary valve agenesis' - 'Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus' SubClassOf 'malformation syndrome' + 'Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus' SubClassOf 'malformation syndrome' + 'Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary valve agenesis' Class: http://www.orpha.net/ORDO/Orphanet_93297 Label: Hypochondrogenesis - 'Hypochondrogenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypochondrogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypochondrogenesis' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Hypochondrogenesis' SubClassOf 'clinical subtype' - 'Hypochondrogenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypochondrogenesis' SubClassOf 'part_of' some 'Achondrogenesis' + 'Hypochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Achondrogenesis' + 'Hypochondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypochondrogenesis' SubClassOf 'clinical subtype' + 'Hypochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Hypochondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypochondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99047 Label: Double outlet right ventricle with doubly committed ventricular septal defect - 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf 'part_of' some 'Double outlet right ventricle' - 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf 'clinical subtype' + 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' + 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93296 Label: Achondrogenesis type 2 - 'Achondrogenesis type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondrogenesis type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Achondrogenesis type 2' SubClassOf 'part_of' some 'Achondrogenesis' - 'Achondrogenesis type 2' SubClassOf 'clinical subtype' - 'Achondrogenesis type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Achondrogenesis type 2' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Achondrogenesis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Achondrogenesis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achondrogenesis type 2' SubClassOf 'clinical subtype' + 'Achondrogenesis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Achondrogenesis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Achondrogenesis' + 'Achondrogenesis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2880 Label: Phosphoenolpyruvate carboxykinase deficiency - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disease' - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disease' + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gluconeogenesis disorder' + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159059 Label: GRB10 interacting GYF protein 2 - 'GRB10 interacting GYF protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'GRB10 interacting GYF protein 2' SubClassOf 'gene' + 'GRB10 interacting GYF protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GRB10 interacting GYF protein 2' SubClassOf 'Candidate gene tested in' some 'Young adult-onset Parkinsonism' + 'GRB10 interacting GYF protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99046 Label: Double outlet right ventricle with non-committed subpulmonary ventricular septal defect - 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'part_of' some 'Double outlet right ventricle' - 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'clinical subtype' + 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' + 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93299 Label: Achondrogenesis type 1A - 'Achondrogenesis type 1A' SubClassOf 'part_of' some 'Achondrogenesis' - 'Achondrogenesis type 1A' SubClassOf 'has_prevalence' some 'Unknown' - 'Achondrogenesis type 1A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondrogenesis type 1A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Achondrogenesis type 1A' SubClassOf 'clinical subtype' + 'Achondrogenesis type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Achondrogenesis' + 'Achondrogenesis type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achondrogenesis type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achondrogenesis type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Achondrogenesis type 1A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2881 Label: Cutaneous photosensitivity - lethal colitis - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'disease' - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cutaneous photosensitivity - lethal colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'disease' + 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutaneous photosensitivity - lethal colitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' + 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119292 Label: CDK5 regulatory subunit associated protein 2 - 'CDK5 regulatory subunit associated protein 2' SubClassOf 'gene' - 'CDK5 regulatory subunit associated protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'CDK5 regulatory subunit associated protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'CDK5 regulatory subunit associated protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CDK5 regulatory subunit associated protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99045 Label: Double outlet right ventricle with subpulmonary ventricular septal defect - 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'clinical subtype' - 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'part_of' some 'Double outlet right ventricle' + 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' + 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93298 Label: Achondrogenesis type 1B - 'Achondrogenesis type 1B' SubClassOf 'has_prevalence' some 'Unknown' - 'Achondrogenesis type 1B' SubClassOf 'part_of' some 'Achondrogenesis' - 'Achondrogenesis type 1B' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Achondrogenesis type 1B' SubClassOf 'clinical subtype' - 'Achondrogenesis type 1B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondrogenesis type 1B' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Achondrogenesis type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achondrogenesis type 1B' SubClassOf 'clinical subtype' + 'Achondrogenesis type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Achondrogenesis' + 'Achondrogenesis type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achondrogenesis type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Achondrogenesis type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2882 Label: Sitosterolemia - 'Sitosterolemia' SubClassOf 'part_of' some 'Rare syndromic dyslipidemia' - 'Sitosterolemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sitosterolemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sitosterolemia' SubClassOf 'disease' - 'Sitosterolemia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sitosterolemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sitosterolemia' SubClassOf 'disease' + 'Sitosterolemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sitosterolemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sitosterolemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndromic dyslipidemia' Class: http://www.orpha.net/ORDO/Orphanet_99044 Label: Double outlet right ventricle with subaortic ventricular septal defect - 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf 'clinical subtype' - 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf 'part_of' some 'Double outlet right ventricle' + 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf 'clinical subtype' + 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_99043 Label: Double outlet right ventricle, Fallot type - 'Double outlet right ventricle, Fallot type' SubClassOf 'part_of' some 'Double outlet right ventricle' - 'Double outlet right ventricle, Fallot type' SubClassOf 'clinical subtype' + 'Double outlet right ventricle, Fallot type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' + 'Double outlet right ventricle, Fallot type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2884 Label: Piebaldism - 'Piebaldism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Piebaldism' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Piebaldism' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Piebaldism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Piebaldism' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Piebaldism' SubClassOf 'has_prevalence' some 'Unknown' - 'Piebaldism' SubClassOf 'disease' - 'Piebaldism' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' + 'Piebaldism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Piebaldism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Piebaldism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Piebaldism' SubClassOf 'disease' + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' Class: http://www.orpha.net/ORDO/Orphanet_99042 Label: Congenitally uncorrected transposition of the great arteries with coarctation - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'clinical subtype' - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'part_of' some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2885 Label: Piebald trait - neurologic defects - 'Piebald trait - neurologic defects' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Piebald trait - neurologic defects' SubClassOf 'malformation syndrome' - 'Piebald trait - neurologic defects' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' + 'Piebald trait - neurologic defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Piebald trait - neurologic defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Piebald trait - neurologic defects' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2886 Label: TARP syndrome - 'TARP syndrome' SubClassOf 'malformation syndrome' - 'TARP syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'TARP syndrome' SubClassOf 'part_of' some 'Syndromic Pierre Robin syndrome' - 'TARP syndrome' SubClassOf 'part_of' some 'Genetic syndromic Pierre Robin syndrome' + 'TARP syndrome' SubClassOf 'malformation syndrome' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic Pierre Robin syndrome' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic Pierre Robin syndrome' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_254712 Label: Familial sinus histiocytosis with massive lymphadenopathy - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_38874 Label: Dihydropyrimidinuria - 'Dihydropyrimidinuria' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Dihydropyrimidinuria' SubClassOf 'disease' - 'Dihydropyrimidinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dihydropyrimidinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dihydropyrimidinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dihydropyrimidinuria' SubClassOf 'disease' + 'Dihydropyrimidinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dihydropyrimidinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_2888 Label: Pierre Robin syndrome - faciodigital anomaly - 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'malformation syndrome' - 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'malformation syndrome' + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123345 Label: wingless-type MMTV integration site family, member 10A - 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sch�pf-Schulz-Passarge syndrome' - 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'wingless-type MMTV integration site family, member 10A' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odonto-onycho-dermal dysplasia' - 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' + 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sch�pf-Schulz-Passarge syndrome' + 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'wingless-type MMTV integration site family, member 10A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 10A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odonto-onycho-dermal dysplasia' + 'wingless-type MMTV integration site family, member 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2889 Label: Pili torti - 'Pili torti' SubClassOf 'has_prevalence' some 'Unknown' - 'Pili torti' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pili torti' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Pili torti' SubClassOf 'disease' - 'Pili torti' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pili torti' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pili torti' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pili torti' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pili torti' SubClassOf 'disease' + 'Pili torti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_123347 Label: homeobox A11 - 'homeobox A11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' - 'homeobox A11' SubClassOf 'gene' + 'homeobox A11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' + 'homeobox A11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox A11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_254707 Label: Faisalabad histiocytosis - 'Faisalabad histiocytosis' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Faisalabad histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Faisalabad histiocytosis' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Faisalabad histiocytosis' SubClassOf 'disease' - 'Faisalabad histiocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Faisalabad histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_207070 Label: Qualitative or quantitative defects of delta-sarcoglycan - 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254704 Label: Genetic hyperferritinemia without iron overload - 'Genetic hyperferritinemia without iron overload' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Genetic hyperferritinemia without iron overload' SubClassOf 'has_prevalence' some 'Unknown' - 'Genetic hyperferritinemia without iron overload' SubClassOf 'morphological anomaly' - 'Genetic hyperferritinemia without iron overload' SubClassOf 'part_of' some 'Rare genetic disease' - 'Genetic hyperferritinemia without iron overload' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Genetic hyperferritinemia without iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' + 'Genetic hyperferritinemia without iron overload' SubClassOf 'morphological anomaly' + 'Genetic hyperferritinemia without iron overload' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_404809 Label: centrosomal protein 83kDa - 'centrosomal protein 83kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' - 'centrosomal protein 83kDa' SubClassOf 'gene' + 'centrosomal protein 83kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'centrosomal protein 83kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 83kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_207078 Label: Qualitative or quantitative defects of caveolin-3 - 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_207073 Label: Qualitative or quantitative defects of dysferlin - 'Qualitative or quantitative defects of dysferlin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of dysferlin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377672 Label: STT3B, subunit of the oligosaccharyltransferase complex (catalytic) - 'STT3B, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'gene' - 'STT3B, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'STT3B-CDG' + 'STT3B, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'STT3B, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'STT3B, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'STT3B-CDG' Class: http://www.orpha.net/ORDO/Orphanet_99057 Label: Congenital mitral stenosis - 'Congenital mitral stenosis' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Congenital mitral stenosis' SubClassOf 'morphological anomaly' + 'Congenital mitral stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Congenital mitral stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2892 Label: Pilodental dysplasia - refractive errors - 'Pilodental dysplasia - refractive errors' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Pilodental dysplasia - refractive errors' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Pilodental dysplasia - refractive errors' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pilodental dysplasia - refractive errors' SubClassOf 'malformation syndrome' - 'Pilodental dysplasia - refractive errors' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pilodental dysplasia - refractive errors' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pilodental dysplasia - refractive errors' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Pilodental dysplasia - refractive errors' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pilodental dysplasia - refractive errors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Pilodental dysplasia - refractive errors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Pilodental dysplasia - refractive errors' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pilodental dysplasia - refractive errors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Pilodental dysplasia - refractive errors' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pilodental dysplasia - refractive errors' SubClassOf 'malformation syndrome' + 'Pilodental dysplasia - refractive errors' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_262794 Label: Partial duplication of the short arm of chromosome 16 - 'Partial duplication of the short arm of chromosome 16' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99056 Label: Parachute tricuspid valve - 'Parachute tricuspid valve' SubClassOf 'morphological anomaly' - 'Parachute tricuspid valve' SubClassOf 'part_of' some 'Anomaly of the tricuspid subvalvular apparatus' + 'Parachute tricuspid valve' SubClassOf 'morphological anomaly' + 'Parachute tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of the tricuspid subvalvular apparatus' Class: http://www.orpha.net/ORDO/Orphanet_99059 Label: Congenital supravalvular mitral ring - 'Congenital supravalvular mitral ring' SubClassOf 'morphological anomaly' - 'Congenital supravalvular mitral ring' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' + 'Congenital supravalvular mitral ring' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Congenital supravalvular mitral ring' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2890 Label: Pili torti - onychodysplasia - 'Pili torti - onychodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pili torti - onychodysplasia' SubClassOf 'malformation syndrome' - 'Pili torti - onychodysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Pili torti - onychodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pili torti - onychodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pili torti - onychodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pili torti - onychodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Pili torti - onychodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pili torti - onychodysplasia' SubClassOf 'malformation syndrome' + 'Pili torti - onychodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pili torti - onychodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99058 Label: Hypoplasia of the mitral valve annulus - 'Hypoplasia of the mitral valve annulus' SubClassOf 'morphological anomaly' - 'Hypoplasia of the mitral valve annulus' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' + 'Hypoplasia of the mitral valve annulus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Hypoplasia of the mitral valve annulus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2891 Label: Pili torti - developmental delay - neurological abnormalities - 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'malformation syndrome' - 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'malformation syndrome' + 'Pili torti - developmental delay - neurological abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_138518 Label: teratocarcinoma-derived growth factor 1 - 'teratocarcinoma-derived growth factor 1' SubClassOf 'gene' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'teratocarcinoma-derived growth factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_159087 Label: vinculin - 'vinculin' SubClassOf 'gene' - 'vinculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'vinculin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1-q23"^^http://www.w3.org/2001/XMLSchema#string + 'vinculin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vinculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_138516 Label: GLI family zinc finger 2 - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' - 'GLI family zinc finger 2' SubClassOf 'gene' - 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'GLI family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14"^^http://www.w3.org/2001/XMLSchema#string + 'GLI family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLI family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_178469 Label: Autosomal dominant non-syndromic intellectual disability - 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'etiological subtype' - 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability without developmental anomaly' + 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'etiological subtype' + 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability without developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_138514 Label: SATB homeobox 2 - 'SATB homeobox 2' SubClassOf 'gene' - 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q32q33 microdeletion syndrome' - 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q33.1 microdeletion syndrome' + 'SATB homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q32q33 microdeletion syndrome' + 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q33.1 microdeletion syndrome' + 'SATB homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123313 Label: leukotriene C4 synthase - 'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia - failure to thrive - microcephaly' - 'leukotriene C4 synthase' SubClassOf 'gene' + 'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia - failure to thrive - microcephaly' + 'leukotriene C4 synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string + 'leukotriene C4 synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99051 Label: Discrete fixed membranous subaortic stenosis - 'Discrete fixed membranous subaortic stenosis' SubClassOf 'part_of' some 'Fixed subaortic stenosis' - 'Discrete fixed membranous subaortic stenosis' SubClassOf 'clinical subtype' + 'Discrete fixed membranous subaortic stenosis' SubClassOf 'clinical subtype' + 'Discrete fixed membranous subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fixed subaortic stenosis' Class: http://www.orpha.net/ORDO/Orphanet_2898 Label: X-linked intellectual disability - plagiocephaly - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked intellectual disability - plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - plagiocephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - plagiocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - plagiocephaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99050 Label: Pulmonary artery coming from the aorta - 'Pulmonary artery coming from the aorta' SubClassOf 'morphological anomaly' - 'Pulmonary artery coming from the aorta' SubClassOf 'part_of' some 'Abnormal origin of the pulmonary artery' + 'Pulmonary artery coming from the aorta' SubClassOf 'morphological anomaly' + 'Pulmonary artery coming from the aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin of the pulmonary artery' Class: http://www.orpha.net/ORDO/Orphanet_2899 Label: Brachyolmia-amelogenesis imperfecta syndrome - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'malformation syndrome' - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Brachyolmia' - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'malformation syndrome' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_209301 Label: transient receptor potential cation channel, subfamily M, member 4 - 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' - 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'gene' - 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive cardiac conduction defect' - 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' + 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial progressive cardiac conduction defect' + 'transient receptor potential cation channel, subfamily M, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99053 Label: Tunnel subaortic stenosis - 'Tunnel subaortic stenosis' SubClassOf 'clinical subtype' - 'Tunnel subaortic stenosis' SubClassOf 'part_of' some 'Fixed subaortic stenosis' + 'Tunnel subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fixed subaortic stenosis' + 'Tunnel subaortic stenosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2896 Label: Pitt-Hopkins syndrome - 'Pitt-Hopkins syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pitt-Hopkins syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pitt-Hopkins syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Pitt-Hopkins syndrome' SubClassOf 'malformation syndrome' - 'Pitt-Hopkins syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pitt-Hopkins syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pitt-Hopkins syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pitt-Hopkins syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pitt-Hopkins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pitt-Hopkins syndrome' SubClassOf 'malformation syndrome' + 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Pitt-Hopkins syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_254746 Label: Pyruvate metabolism disorder - 'Pyruvate metabolism disorder' SubClassOf 'group of disorders' + 'Pyruvate metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99052 Label: Discrete fibromuscular subaortic stenosis - 'Discrete fibromuscular subaortic stenosis' SubClassOf 'part_of' some 'Fixed subaortic stenosis' - 'Discrete fibromuscular subaortic stenosis' SubClassOf 'clinical subtype' + 'Discrete fibromuscular subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fixed subaortic stenosis' + 'Discrete fibromuscular subaortic stenosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2897 Label: Pityriasis rubra pilaris - 'Pityriasis rubra pilaris' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pityriasis rubra pilaris' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pityriasis rubra pilaris' SubClassOf 'part_of' some 'Genetic erythrokeratoderma' - 'Pityriasis rubra pilaris' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pityriasis rubra pilaris' SubClassOf 'disease' - 'Pityriasis rubra pilaris' SubClassOf 'part_of' some 'Erythrokeratoderma' - 'Pityriasis rubra pilaris' SubClassOf 'has_inheritance' some 'sporadic' + 'Pityriasis rubra pilaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pityriasis rubra pilaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pityriasis rubra pilaris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pityriasis rubra pilaris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma' + 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic erythrokeratoderma' + 'Pityriasis rubra pilaris' SubClassOf 'disease' + 'Pityriasis rubra pilaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_123318 Label: lysosomal trafficking regulator - 'lysosomal trafficking regulator' SubClassOf 'gene' - 'lysosomal trafficking regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Attenuated Ch�diak-Higashi syndrome' - 'lysosomal trafficking regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ch�diak-Higashi syndrome' + 'lysosomal trafficking regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysosomal trafficking regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Attenuated Ch�diak-Higashi syndrome' + 'lysosomal trafficking regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1-q42.2"^^http://www.w3.org/2001/XMLSchema#string + 'lysosomal trafficking regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ch�diak-Higashi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178464 Label: Hereditary proximal myopathy with early respiratory failure - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'disease' - 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'part_of' some 'Qualitative or quantitative defects of titin' + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of titin' + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99055 Label: Anomaly of the tricuspid valve chordae - 'Anomaly of the tricuspid valve chordae' SubClassOf 'part_of' some 'Anomaly of the tricuspid subvalvular apparatus' - 'Anomaly of the tricuspid valve chordae' SubClassOf 'morphological anomaly' + 'Anomaly of the tricuspid valve chordae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of the tricuspid subvalvular apparatus' + 'Anomaly of the tricuspid valve chordae' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2894 Label: Pilotto syndrome - 'Pilotto syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Pilotto syndrome' SubClassOf 'malformation syndrome' + 'Pilotto syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Pilotto syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178461 Label: X-linked myopathy with postural muscle atrophy - 'X-linked myopathy with postural muscle atrophy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'X-linked myopathy with postural muscle atrophy' SubClassOf 'disease' - 'X-linked myopathy with postural muscle atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked myopathy with postural muscle atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked myopathy with postural muscle atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'X-linked myopathy with postural muscle atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked myopathy with postural muscle atrophy' SubClassOf 'disease' + 'X-linked myopathy with postural muscle atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_190 Label: Coats disease - 'Coats disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Coats disease' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Coats disease' SubClassOf 'malformation syndrome' - 'Coats disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Coats disease' SubClassOf 'part_of' some 'Secondary glaucoma due to a proliferation and differentiation anomaly' - 'Coats disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Coats disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Coats disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Coats disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Coats disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99054 Label: Valvular pulmonary stenosis - 'Valvular pulmonary stenosis' SubClassOf 'clinical subtype' - 'Valvular pulmonary stenosis' SubClassOf 'part_of' some 'Congenital pulmonary valve stenosis' + 'Valvular pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary valve stenosis' + 'Valvular pulmonary stenosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_191 Label: Cockayne syndrome - 'Cockayne syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cockayne syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cockayne syndrome' SubClassOf 'disease' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cockayne syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Cockayne syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cockayne syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Cockayne syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cockayne syndrome' SubClassOf 'disease' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cockayne syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cockayne syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_192 Label: Coffin-Lowry syndrome - 'Coffin-Lowry syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Coffin-Lowry syndrome' SubClassOf 'malformation syndrome' - 'Coffin-Lowry syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Coffin-Lowry syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coffin-Lowry syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Coffin-Lowry syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Coffin-Lowry syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Coffin-Lowry syndrome' SubClassOf 'malformation syndrome' + 'Coffin-Lowry syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coffin-Lowry syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Coffin-Lowry syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_216986 Label: Niemann-Pick disease type C, adult neurologic onset - 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'part_of' some 'Niemann-Pick disease type C' - 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'clinical subtype' - 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_193 Label: Cohen syndrome - 'Cohen syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cohen syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cohen syndrome' SubClassOf 'malformation syndrome' - 'Cohen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cohen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cohen syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cohen syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Cohen syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Cohen syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cohen syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Cohen syndrome' SubClassOf 'part_of' some 'Syndromic myopia' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Cohen syndrome' SubClassOf 'malformation syndrome' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Cohen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Cohen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cohen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_194 Label: Ocular coloboma - 'Ocular coloboma' SubClassOf 'group of disorders' + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ocular coloboma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Ocular coloboma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ocular coloboma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Ocular coloboma' SubClassOf 'group of disorders' + 'Ocular coloboma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_195 Label: Cat-eye syndrome - 'Cat-eye syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cat-eye syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Cat-eye syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cat-eye syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cat-eye syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Cat-eye syndrome' SubClassOf 'malformation syndrome' - 'Cat-eye syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cat-eye syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cat-eye syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Cat-eye syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cat-eye syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cat-eye syndrome' SubClassOf 'malformation syndrome' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Cat-eye syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_216981 Label: Niemann-Pick disease type C, juvenile neurologic onset - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'clinical subtype' - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'part_of' some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_198 Label: Occipital horn syndrome - 'Occipital horn syndrome' SubClassOf 'disease' - 'Occipital horn syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Occipital horn syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Occipital horn syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'Occipital horn syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Occipital horn syndrome' SubClassOf 'part_of' some 'Disorder of copper metabolism' - 'Occipital horn syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Occipital horn syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Occipital horn syndrome' SubClassOf 'disease' + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Occipital horn syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Occipital horn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'Occipital horn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_199 Label: Cornelia de Lange syndrome - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Eyebrow hypertrophy' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Cornelia de Lange syndrome' SubClassOf 'malformation syndrome' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cornelia de Lange syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Cornelia de Lange syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cornelia de Lange syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cornelia de Lange syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Cornelia de Lange syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow hypertrophy' + 'Cornelia de Lange syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Cornelia de Lange syndrome' SubClassOf 'malformation syndrome' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Cornelia de Lange syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cornelia de Lange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Cornelia de Lange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Cornelia de Lange syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Cornelia de Lange syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cornelia de Lange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cornelia de Lange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.97"^^http://www.w3.org/2001/XMLSchema#string) + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Cornelia de Lange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_377662 Label: STT3A, subunit of the oligosaccharyltransferase complex (catalytic) - 'STT3A, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'STT3A-CDG' - 'STT3A, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'gene' + 'STT3A, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'STT3A, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'STT3A-CDG' + 'STT3A, subunit of the oligosaccharyltransferase complex (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159084 Label: ubiquitin fusion degradation 1 like (yeast) - 'ubiquitin fusion degradation 1 like (yeast)' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' - 'ubiquitin fusion degradation 1 like (yeast)' SubClassOf 'gene' + 'ubiquitin fusion degradation 1 like (yeast)' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'ubiquitin fusion degradation 1 like (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin fusion degradation 1 like (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_207085 Label: Qualitative or quantitative defects of dystrophin - 'Qualitative or quantitative defects of dystrophin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of dystrophin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159080 Label: ubiquitin-conjugating enzyme E2A - 'ubiquitin-conjugating enzyme E2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Nascimento type' - 'ubiquitin-conjugating enzyme E2A' SubClassOf 'gene' + 'ubiquitin-conjugating enzyme E2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Nascimento type' + 'ubiquitin-conjugating enzyme E2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin-conjugating enzyme E2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99069 Label: Univentricular heart with single atrio-ventricular valve - 'Univentricular heart with single atrio-ventricular valve' SubClassOf 'clinical subtype' - 'Univentricular heart with single atrio-ventricular valve' SubClassOf 'part_of' some 'Univentricular heart' + 'Univentricular heart with single atrio-ventricular valve' SubClassOf 'clinical subtype' + 'Univentricular heart with single atrio-ventricular valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Univentricular heart' + 'Univentricular heart with single atrio-ventricular valve' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99068 Label: Complete atrioventricular canal - Fallot tetralogy - 'Complete atrioventricular canal - Fallot tetralogy' SubClassOf 'clinical subtype' - 'Complete atrioventricular canal - Fallot tetralogy' SubClassOf 'part_of' some 'Complete atrioventricular canal' + 'Complete atrioventricular canal - Fallot tetralogy' SubClassOf 'clinical subtype' + 'Complete atrioventricular canal - Fallot tetralogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complete atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_178478 Label: Infant botulism - 'Infant botulism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infant botulism' SubClassOf 'clinical subtype' - 'Infant botulism' SubClassOf 'has_prevalence' some 'Unknown' + 'Infant botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Infant botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Infant botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Infant botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infant botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infant botulism' SubClassOf 'clinical subtype' + 'Infant botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99067 Label: Complete atrioventricular canal - ventricle hypoplasia - 'Complete atrioventricular canal - ventricle hypoplasia' SubClassOf 'clinical subtype' - 'Complete atrioventricular canal - ventricle hypoplasia' SubClassOf 'part_of' some 'Complete atrioventricular canal' + 'Complete atrioventricular canal - ventricle hypoplasia' SubClassOf 'clinical subtype' + 'Complete atrioventricular canal - ventricle hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complete atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_138509 Label: family with sequence similarity 20, member C - 'family with sequence similarity 20, member C' SubClassOf 'gene' - 'family with sequence similarity 20, member C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal osteosclerotic bone dysplasia' + 'family with sequence similarity 20, member C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'family with sequence similarity 20, member C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 20, member C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lethal osteosclerotic bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_138503 Label: gap junction protein, alpha 5, 40kDa - 'gap junction protein, alpha 5, 40kDa' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'gap junction protein, alpha 5, 40kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'gap junction protein, alpha 5, 40kDa' SubClassOf 'gene' + 'gap junction protein, alpha 5, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 5, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 5, 40kDa' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'gap junction protein, alpha 5, 40kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_159075 Label: tyrosine kinase 2 - 'tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' - 'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'tyrosine kinase 2' SubClassOf 'gene' + 'tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' + 'tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_99062 Label: Mitral valve agenesis - 'Mitral valve agenesis' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Mitral valve agenesis' SubClassOf 'morphological anomaly' + 'Mitral valve agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Mitral valve agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123322 Label: lysozyme - 'lysozyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to lysozyme variant' - 'lysozyme' SubClassOf 'gene' + 'lysozyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysozyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to lysozyme variant' + 'lysozyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99061 Label: Accessory mitral valve tissue - 'Accessory mitral valve tissue' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Accessory mitral valve tissue' SubClassOf 'morphological anomaly' + 'Accessory mitral valve tissue' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Accessory mitral valve tissue' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120710 Label: collagen, type II, alpha 1 - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypochondrogenesis' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloperipheral dysplasia - short ulna' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legg-Calv�-Perthes disease' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' - 'collagen, type II, alpha 1' SubClassOf 'Candidate gene tested in' some 'Otospondylomegaepiphyseal dysplasia' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Czech dysplasia, metatarsal type' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Beighton type' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, 'corner fracture' type' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysspondyloenchondromatosis' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial avascular necrosis of femoral head' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Platyspondylic dysplasia, Torrance type' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 2' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Schmidt type' - 'collagen, type II, alpha 1' SubClassOf 'gene' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kniest dysplasia' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 1' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia congenita' - 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant rhegmatogenous retinal detachment' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypochondrogenesis' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloperipheral dysplasia - short ulna' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legg-Calv�-Perthes disease' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' + 'collagen, type II, alpha 1' SubClassOf 'Candidate gene tested in' some 'Weissenbacher- Zweymuller syndrome' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Czech dysplasia, metatarsal type' + 'collagen, type II, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Beighton type' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, 'corner fracture' type' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysspondyloenchondromatosis' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial avascular necrosis of femoral head' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Platyspondylic dysplasia, Torrance type' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 2' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Schmidt type' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kniest dysplasia' + 'collagen, type II, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 1' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia congenita' + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant rhegmatogenous retinal detachment' Class: http://www.orpha.net/ORDO/Orphanet_99060 Label: Congenital unguarded mitral orifice - 'Congenital unguarded mitral orifice' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Congenital unguarded mitral orifice' SubClassOf 'morphological anomaly' + 'Congenital unguarded mitral orifice' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Congenital unguarded mitral orifice' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123324 Label: MAGE-like 2 - 'MAGE-like 2' SubClassOf 'gene' - 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' - 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' - 'MAGE-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' - 'MAGE-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to point mutation' - 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'MAGE-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'MAGE-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MAGE-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prader-Willi syndrome due to point mutation' + 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' + 'MAGE-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' + 'MAGE-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'MAGE-like 2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' Class: http://www.orpha.net/ORDO/Orphanet_209314 Label: HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase - 'HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Turner type' + 'HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string + 'HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Turner type' Class: http://www.orpha.net/ORDO/Orphanet_99066 Label: Complete atrioventricular canal - left heart obstruction - 'Complete atrioventricular canal - left heart obstruction' SubClassOf 'clinical subtype' - 'Complete atrioventricular canal - left heart obstruction' SubClassOf 'part_of' some 'Complete atrioventricular canal' + 'Complete atrioventricular canal - left heart obstruction' SubClassOf 'clinical subtype' + 'Complete atrioventricular canal - left heart obstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complete atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_398189 Label: Focal facial dermal dysplasia type IV - 'Focal facial dermal dysplasia type IV' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia type IV' SubClassOf 'clinical subtype' - 'Focal facial dermal dysplasia type IV' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia type IV' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' - 'Focal facial dermal dysplasia type IV' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Focal facial dermal dysplasia type IV' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type IV' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia type IV' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99064 Label: Straddling and/or overriding mitral valve - 'Straddling and/or overriding mitral valve' SubClassOf 'part_of' some 'Cleft mitral valve' - 'Straddling and/or overriding mitral valve' SubClassOf 'clinical subtype' + 'Straddling and/or overriding mitral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft mitral valve' + 'Straddling and/or overriding mitral valve' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_123328 Label: mannosidase, alpha, class 2B, member 1 - 'mannosidase, alpha, class 2B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-mannosidosis, infantile form' - 'mannosidase, alpha, class 2B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-mannosidosis, adult form' - 'mannosidase, alpha, class 2B, member 1' SubClassOf 'gene' + 'mannosidase, alpha, class 2B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-mannosidosis, infantile form' + 'mannosidase, alpha, class 2B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-mannosidosis, adult form' + 'mannosidase, alpha, class 2B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannosidase, alpha, class 2B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99063 Label: Shone complex - 'Shone complex' SubClassOf 'malformation syndrome' - 'Shone complex' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' + 'Shone complex' SubClassOf 'malformation syndrome' + 'Shone complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_178475 Label: Wound botulism - 'Wound botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Wound botulism' SubClassOf 'has_prevalence' some 'Unknown' - 'Wound botulism' SubClassOf 'part_of' some 'Toxin-mediated infectious botulism' - 'Wound botulism' SubClassOf 'etiological subtype' + 'Wound botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Wound botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Wound botulism' SubClassOf 'etiological subtype' + 'Wound botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxin-mediated infectious botulism' Class: http://www.orpha.net/ORDO/Orphanet_120707 Label: collagen, type I, alpha 2 - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos/osteogenesis imperfecta syndrome' - 'collagen, type I, alpha 2' SubClassOf 'gene' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, cardiac valvular type' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 1' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 7B' - 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'collagen, type I, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos/osteogenesis imperfecta syndrome' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, cardiac valvular type' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 1' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'collagen, type I, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 7B' + 'collagen, type I, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182 Label: Chromomycosis - 'Chromomycosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Chromomycosis' SubClassOf 'disease' + 'Chromomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Chromomycosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_216972 Label: Niemann-Pick disease type C, severe perinatal form - 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'part_of' some 'Niemann-Pick disease type C' - 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'clinical subtype' - 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_183 Label: Eosinophilic granulomatosis with polyangiitis - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'disease' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Non-familial rare disease with dilated cardiomyopathy' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'disease' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial rare disease with dilated cardiomyopathy' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_180 Label: Choroideremia - 'Choroideremia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Choroideremia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Choroideremia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Choroideremia' SubClassOf 'disease' - 'Choroideremia' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Choroideremia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Choroideremia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' + 'Choroideremia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Choroideremia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Choroideremia' SubClassOf 'disease' + 'Choroideremia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Choroideremia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_181 Label: X-linked hypohidrotic ectodermal dysplasia - 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' - 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Hypohidrotic ectodermal dysplasia' + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypohidrotic ectodermal dysplasia' + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_216975 Label: Niemann-Pick disease type C, severe early infantile neurologic onset - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'part_of' some 'Niemann-Pick disease type C' - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_362495 Label: major histocompatibility complex, class II, DP beta 1 - 'major histocompatibility complex, class II, DP beta 1' SubClassOf 'Major susceptibility factor in' some 'Chronic berylliosis' - 'major histocompatibility complex, class II, DP beta 1' SubClassOf 'gene' - 'major histocompatibility complex, class II, DP beta 1' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' + 'major histocompatibility complex, class II, DP beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major histocompatibility complex, class II, DP beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class II, DP beta 1' SubClassOf 'Major susceptibility factor in' some 'Chronic berylliosis' + 'major histocompatibility complex, class II, DP beta 1' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' Class: http://www.orpha.net/ORDO/Orphanet_186 Label: Primary biliary cirrhosis - 'Primary biliary cirrhosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Primary biliary cirrhosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Primary biliary cirrhosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary biliary cirrhosis' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Primary biliary cirrhosis' SubClassOf 'disease' + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "22.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "38.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410025) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.57"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf 'disease' + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary biliary cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410025) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120704 Label: collagen, type I, alpha 1 - 'collagen, type I, alpha 1' SubClassOf 'Part of a fusion gene in' some 'Dermatofibrosarcoma protuberans' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caffey disease' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 1' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, vascular-like type' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 7A' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos/osteogenesis imperfecta syndrome' - 'collagen, type I, alpha 1' SubClassOf 'gene' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caffey disease' + 'collagen, type I, alpha 1' SubClassOf 'Part of a fusion gene in' some 'Dermatofibrosarcoma protuberans' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 1' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos/osteogenesis imperfecta syndrome' + 'collagen, type I, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, vascular-like type' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 7A' + 'collagen, type I, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'collagen, type I, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_187 Label: Citrullinemia - 'Citrullinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Citrullinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Citrullinemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Citrullinemia' SubClassOf 'group of disorders' + 'Citrullinemia' SubClassOf 'group of disorders' + 'Citrullinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Citrullinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_184 Label: Cherubism - 'Cherubism' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Cherubism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cherubism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cherubism' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Cherubism' SubClassOf 'has_inheritance' some 'sporadic' - 'Cherubism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cherubism' SubClassOf 'malformation syndrome' - 'Cherubism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cherubism' SubClassOf 'has_prevalence' some 'Unknown' - 'Cherubism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cherubism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cherubism' SubClassOf 'malformation syndrome' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Cherubism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cherubism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cherubism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_33402 Label: Hepatocellular carcinoma, childhood-onset - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'clinical subtype' - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'part_of' some 'Hepatocellular carcinoma' - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'has_inheritance' some 'sporadic' + 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'clinical subtype' + 'Hepatocellular carcinoma, childhood-onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_120702 Label: collagen, type XVIII, alpha 1 - 'collagen, type XVIII, alpha 1' SubClassOf 'gene' - 'collagen, type XVIII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knobloch syndrome' + 'collagen, type XVIII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knobloch syndrome' + 'collagen, type XVIII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XVIII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_185 Label: Scimitar syndrome - 'Scimitar syndrome' SubClassOf 'part_of' some 'Congenital pulmonary veins anomaly' - 'Scimitar syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Scimitar syndrome' SubClassOf 'malformation syndrome' - 'Scimitar syndrome' SubClassOf 'part_of' some 'Congenital great vessels anomaly' - 'Scimitar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital great vessels anomaly' + 'Scimitar syndrome' SubClassOf 'malformation syndrome' + 'Scimitar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Scimitar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Scimitar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary veins anomaly' Class: http://www.orpha.net/ORDO/Orphanet_207090 Label: Qualitative or quantitative defects of collagen 6 - 'Qualitative or quantitative defects of collagen 6' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of collagen 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_188 Label: Systemic capillary leak syndrome - 'Systemic capillary leak syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'Systemic capillary leak syndrome' SubClassOf 'disease' - 'Systemic capillary leak syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Systemic capillary leak syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Systemic capillary leak syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Systemic capillary leak syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic capillary leak syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Systemic capillary leak syndrome' SubClassOf 'disease' + 'Systemic capillary leak syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Systemic capillary leak syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_189 Label: Hidrotic ectodermal dysplasia - 'Hidrotic ectodermal dysplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Hidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hidrotic ectodermal dysplasia' SubClassOf 'disease' + 'Hidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Hidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hidrotic ectodermal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_207094 Label: Qualitative or quantitative defects of merosin - 'Qualitative or quantitative defects of merosin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of merosin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_365105 Label: bicaudal D homolog 2 (Drosophila) - 'bicaudal D homolog 2 (Drosophila)' SubClassOf 'gene' - 'bicaudal D homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' + 'bicaudal D homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bicaudal D homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.32"^^http://www.w3.org/2001/XMLSchema#string + 'bicaudal D homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' Class: http://www.orpha.net/ORDO/Orphanet_216978 Label: Niemann-Pick disease type C, late infantile neurologic onset - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'clinical subtype' - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'part_of' some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_362490 Label: microRNA 137 - 'microRNA 137' SubClassOf 'gene' - 'microRNA 137' SubClassOf 'Role in the phenotype of' some '1p21.3 microdeletion syndrome' + 'microRNA 137' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'microRNA 137' SubClassOf 'Role in the phenotype of' some '1p21.3 microdeletion syndrome' + 'microRNA 137' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_207098 Label: Qualitative or quantitative defects of integrin alpha-7 - 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_308670 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2831 Label: Rhizomelic dysplasia, Patterson-Lowry type - 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'malformation syndrome' - 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163931 Label: Acrodermatitis continua suppurativa of Hallopeau - 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'disease' - 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'disease' + 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_163934 Label: Atopic keratoconjunctivitis - 'Atopic keratoconjunctivitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Atopic keratoconjunctivitis' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Atopic keratoconjunctivitis' SubClassOf 'disease' + 'Atopic keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Atopic keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atopic keratoconjunctivitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2834 Label: Wrinkly skin syndrome - 'Wrinkly skin syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wrinkly skin syndrome' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2A' - 'Wrinkly skin syndrome' SubClassOf 'clinical subtype' - 'Wrinkly skin syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wrinkly skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Wrinkly skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cutis laxa type 2A' + 'Wrinkly skin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wrinkly skin syndrome' SubClassOf 'clinical subtype' + 'Wrinkly skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wrinkly skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wrinkly skin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2833 Label: Stiff skin syndrome - 'Stiff skin syndrome' SubClassOf 'disease' - 'Stiff skin syndrome' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' + 'Stiff skin syndrome' SubClassOf 'disease' + 'Stiff skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_163937 Label: X-linked intellectual disability, Najm type - 'X-linked intellectual disability, Najm type' SubClassOf 'disease' - 'X-linked intellectual disability, Najm type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Najm type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Najm type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Najm type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Najm type' SubClassOf 'disease' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Najm type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Najm type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Najm type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_2832 Label: Short tarsus - absence of lower eyelashes - 'Short tarsus - absence of lower eyelashes' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short tarsus - absence of lower eyelashes' SubClassOf 'malformation syndrome' - 'Short tarsus - absence of lower eyelashes' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Short tarsus - absence of lower eyelashes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short tarsus - absence of lower eyelashes' SubClassOf 'malformation syndrome' + 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short tarsus - absence of lower eyelashes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short tarsus - absence of lower eyelashes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short tarsus - absence of lower eyelashes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_207028 Label: Cerebellar ataxia with peripheral neuropathy - 'Cerebellar ataxia with peripheral neuropathy' SubClassOf 'group of disorders' + 'Cerebellar ataxia with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93262 Label: Crouzon syndrome - acanthosis nigricans - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'malformation syndrome' + 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Crouzon syndrome - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Crouzon syndrome - acanthosis nigricans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'malformation syndrome' + 'Crouzon syndrome - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123375 Label: dolichol kinase - 'dolichol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'DK1-CDG' - 'dolichol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'dolichol kinase' SubClassOf 'gene' + 'dolichol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'DK1-CDG' + 'dolichol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dolichol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'dolichol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93260 Label: Pfeiffer syndrome type 3 - 'Pfeiffer syndrome type 3' SubClassOf 'part_of' some 'Pfeiffer syndrome' - 'Pfeiffer syndrome type 3' SubClassOf 'clinical subtype' + 'Pfeiffer syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pfeiffer syndrome type 3' SubClassOf 'clinical subtype' + 'Pfeiffer syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pfeiffer syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pfeiffer syndrome' + 'Pfeiffer syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Pfeiffer syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123373 Label: RAB23, member RAS oncogene family - 'RAB23, member RAS oncogene family' SubClassOf 'gene' - 'RAB23, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter syndrome' + 'RAB23, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAB23, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB23, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276422 Label: 10q22.3q23.3 microduplication syndrome - '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '10q22.3q23.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 10' - '10q22.3q23.3 microduplication syndrome' SubClassOf 'malformation syndrome' - '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '10q22.3q23.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 10' + '10q22.3q23.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '10q22.3q23.3 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123371 Label: TAP binding protein (tapasin) - 'TAP binding protein (tapasin)' SubClassOf 'gene' - 'TAP binding protein (tapasin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' + 'TAP binding protein (tapasin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAP binding protein (tapasin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' + 'TAP binding protein (tapasin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_207025 Label: Rare hereditary neurologic disease with peripheral neuropathy - 'Rare hereditary neurologic disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare hereditary neurologic disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319494 Label: Familial nonmedullary thyroid carcinoma - 'Familial nonmedullary thyroid carcinoma' SubClassOf 'group of disorders' + 'Familial nonmedullary thyroid carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178400 Label: Distal myopathy with anterior tibial onset - 'Distal myopathy with anterior tibial onset' SubClassOf 'disease' - 'Distal myopathy with anterior tibial onset' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dysferlin' - 'Distal myopathy with anterior tibial onset' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' + 'Distal myopathy with anterior tibial onset' SubClassOf 'disease' + 'Distal myopathy with anterior tibial onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dysferlin' + 'Distal myopathy with anterior tibial onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93259 Label: Pfeiffer syndrome type 2 - 'Pfeiffer syndrome type 2' SubClassOf 'clinical subtype' - 'Pfeiffer syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pfeiffer syndrome type 2' SubClassOf 'part_of' some 'Pfeiffer syndrome' + 'Pfeiffer syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pfeiffer syndrome type 2' SubClassOf 'clinical subtype' + 'Pfeiffer syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pfeiffer syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pfeiffer syndrome' + 'Pfeiffer syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Pfeiffer syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_365113 Label: component of oligomeric golgi complex 6 - 'component of oligomeric golgi complex 6' SubClassOf 'gene' - 'component of oligomeric golgi complex 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' + 'component of oligomeric golgi complex 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'component of oligomeric golgi complex 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207021 Label: Rare hereditary systemic disease with peripheral neuropathy - 'Rare hereditary systemic disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare hereditary systemic disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93258 Label: Pfeiffer syndrome type 1 - 'Pfeiffer syndrome type 1' SubClassOf 'part_of' some 'Pfeiffer syndrome' - 'Pfeiffer syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pfeiffer syndrome type 1' SubClassOf 'clinical subtype' + 'Pfeiffer syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pfeiffer syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pfeiffer syndrome' + 'Pfeiffer syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Pfeiffer syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pfeiffer syndrome type 1' SubClassOf 'clinical subtype' + 'Pfeiffer syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93256 Label: Fragile X-associated tremor/ataxia syndrome - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'malformation syndrome' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'part_of' some 'Rare genetic tremor disorder' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic tremor disorder' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'malformation syndrome' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_31112 Label: Dermatofibrosarcoma protuberans - 'Dermatofibrosarcoma protuberans' SubClassOf 'has_inheritance' some 'sporadic' - 'Dermatofibrosarcoma protuberans' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Dermatofibrosarcoma protuberans' SubClassOf 'disease' - 'Dermatofibrosarcoma protuberans' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dermatofibrosarcoma protuberans' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Dermatofibrosarcoma protuberans' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Dermatofibrosarcoma protuberans' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Dermatofibrosarcoma protuberans' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Dermatofibrosarcoma protuberans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Dermatofibrosarcoma protuberans' SubClassOf 'disease' + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic soft tissue tumor' + 'Dermatofibrosarcoma protuberans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Dermatofibrosarcoma protuberans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_365118 Label: adenosine deaminase, tRNA-specific 3 - 'adenosine deaminase, tRNA-specific 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-strabismus syndrome' - 'adenosine deaminase, tRNA-specific 3' SubClassOf 'gene' + 'adenosine deaminase, tRNA-specific 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine deaminase, tRNA-specific 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine deaminase, tRNA-specific 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-strabismus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2828 Label: Young adult-onset Parkinsonism - 'Young adult-onset Parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Young adult-onset Parkinsonism' SubClassOf 'disease' - 'Young adult-onset Parkinsonism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Young adult-onset Parkinsonism' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Young adult-onset Parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Young adult-onset Parkinsonism' SubClassOf 'part_of' some 'Primary orthostatic hypotension' - 'Young adult-onset Parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Young adult-onset Parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Young adult-onset Parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Young adult-onset Parkinsonism' SubClassOf 'disease' + 'Young adult-onset Parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Young adult-onset Parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Young adult-onset Parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Young adult-onset Parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Young adult-onset Parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Young adult-onset Parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Young adult-onset Parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_2825 Label: PARC syndrome - 'PARC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PARC syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'PARC syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PARC syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'PARC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PARC syndrome' SubClassOf 'malformation syndrome' - 'PARC syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PARC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'PARC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PARC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PARC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PARC syndrome' SubClassOf 'malformation syndrome' + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2826 Label: Spastic paraplegia - precocious puberty - 'Spastic paraplegia - precocious puberty' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - precocious puberty' SubClassOf 'disease' - 'Spastic paraplegia - precocious puberty' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spastic paraplegia - precocious puberty' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spastic paraplegia - precocious puberty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia - precocious puberty' SubClassOf 'disease' + 'Spastic paraplegia - precocious puberty' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spastic paraplegia - precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2840 Label: Pelvic dysplasia - arthrogryposis of lower limbs - 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'malformation syndrome' - 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'malformation syndrome' + 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_99000 Label: Adult-onset foveomacular vitelliform dystrophy - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'disease' - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'disease' + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2842 Label: Penoscrotal transposition - 'Penoscrotal transposition' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Penoscrotal transposition' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Penoscrotal transposition' SubClassOf 'morphological anomaly' - 'Penoscrotal transposition' SubClassOf 'has_inheritance' some 'sporadic' - 'Penoscrotal transposition' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Penoscrotal transposition' SubClassOf 'has_prevalence' some 'Unknown' - 'Penoscrotal transposition' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Penoscrotal transposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Penoscrotal transposition' SubClassOf 'morphological anomaly' + 'Penoscrotal transposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Penoscrotal transposition' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Penoscrotal transposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Penoscrotal transposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Penoscrotal transposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2841 Label: Familial benign chronic pemphigus - 'Familial benign chronic pemphigus' SubClassOf 'part_of' some 'Genetic epidermal disorder' - 'Familial benign chronic pemphigus' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial benign chronic pemphigus' SubClassOf 'disease' - 'Familial benign chronic pemphigus' SubClassOf 'part_of' some 'Epidermal disease' - 'Familial benign chronic pemphigus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial benign chronic pemphigus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial benign chronic pemphigus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial benign chronic pemphigus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epidermal disease' + 'Familial benign chronic pemphigus' SubClassOf 'disease' + 'Familial benign chronic pemphigus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial benign chronic pemphigus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_163921 Label: Posttransplant acute limbic encephalitis - 'Posttransplant acute limbic encephalitis' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Posttransplant acute limbic encephalitis' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' + 'Posttransplant acute limbic encephalitis' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Posttransplant acute limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_123389 Label: aminoadipate-semialdehyde synthase - 'aminoadipate-semialdehyde synthase' SubClassOf 'gene' - 'aminoadipate-semialdehyde synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saccharopinuria' - 'aminoadipate-semialdehyde synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlysinemia' + 'aminoadipate-semialdehyde synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saccharopinuria' + 'aminoadipate-semialdehyde synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlysinemia' + 'aminoadipate-semialdehyde synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminoadipate-semialdehyde synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2843 Label: Pentosuria - 'Pentosuria' SubClassOf 'part_of' some 'Disorder of pentose phosphate metabolism' - 'Pentosuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Pentosuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pentosuria' SubClassOf 'disease' - 'Pentosuria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pentosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pentosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pentosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pentose phosphate metabolism' + 'Pentosuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pentosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163927 Label: Pustulosis palmaris et plantaris - 'Pustulosis palmaris et plantaris' SubClassOf 'disease' - 'Pustulosis palmaris et plantaris' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pustulosis palmaris et plantaris' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Pustulosis palmaris et plantaris' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Pustulosis palmaris et plantaris' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pustulosis palmaris et plantaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Pustulosis palmaris et plantaris' SubClassOf 'disease' + 'Pustulosis palmaris et plantaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pustulosis palmaris et plantaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Pustulosis palmaris et plantaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2846 Label: Congenital pericardium anomaly - 'Congenital pericardium anomaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pericardium anomaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital pericardium anomaly' SubClassOf 'group of disorders' - 'Congenital pericardium anomaly' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Congenital pericardium anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital pericardium anomaly' SubClassOf 'group of disorders' + 'Congenital pericardium anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_163924 Label: Non-herpetic acute limbic encephalitis - 'Non-herpetic acute limbic encephalitis' SubClassOf 'disease' - 'Non-herpetic acute limbic encephalitis' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' + 'Non-herpetic acute limbic encephalitis' SubClassOf 'disease' + 'Non-herpetic acute limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_276413 Label: 10q22.3q23.3 microdeletion syndrome - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 10' - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '10q22.3q23.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 10' + '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '10q22.3q23.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '10q22.3q23.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99003 Label: Multifocal pattern dystrophy simulating fundus flavimaculatus - 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'disease' - 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'part_of' some 'Patterned dystrophy of the retinal pigment epithelium' + 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'disease' + 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patterned dystrophy of the retinal pigment epithelium' Class: http://www.orpha.net/ORDO/Orphanet_123381 Label: cytokine receptor-like factor 1 - 'cytokine receptor-like factor 1' SubClassOf 'gene' - 'cytokine receptor-like factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crisponi syndrome' - 'cytokine receptor-like factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' + 'cytokine receptor-like factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crisponi syndrome' + 'cytokine receptor-like factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p12"^^http://www.w3.org/2001/XMLSchema#string + 'cytokine receptor-like factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' + 'cytokine receptor-like factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99004 Label: Fundus pulverulentus - 'Fundus pulverulentus' SubClassOf 'disease' - 'Fundus pulverulentus' SubClassOf 'part_of' some 'Patterned dystrophy of the retinal pigment epithelium' + 'Fundus pulverulentus' SubClassOf 'disease' + 'Fundus pulverulentus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patterned dystrophy of the retinal pigment epithelium' Class: http://www.orpha.net/ORDO/Orphanet_207038 Label: Acute and subacute inflammatory demyelinating polyneuropathy - 'Acute and subacute inflammatory demyelinating polyneuropathy' SubClassOf 'group of disorders' + 'Acute and subacute inflammatory demyelinating polyneuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99001 Label: Butterfly-shaped pigment dystrophy - 'Butterfly-shaped pigment dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Butterfly-shaped pigment dystrophy' SubClassOf 'part_of' some 'Patterned dystrophy of the retinal pigment epithelium' - 'Butterfly-shaped pigment dystrophy' SubClassOf 'disease' + 'Butterfly-shaped pigment dystrophy' SubClassOf 'disease' + 'Butterfly-shaped pigment dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patterned dystrophy of the retinal pigment epithelium' + 'Butterfly-shaped pigment dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99002 Label: Reticular dystrophy of the retinal pigment epithelium - 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'part_of' some 'Patterned dystrophy of the retinal pigment epithelium' - 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'disease' + 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patterned dystrophy of the retinal pigment epithelium' + 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_365126 Label: adenosine A2a receptor - 'adenosine A2a receptor' SubClassOf 'gene' - 'adenosine A2a receptor' SubClassOf 'Major susceptibility factor in' some 'Acute encephalopathy with biphasic seizures and late reduced diffusion' + 'adenosine A2a receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine A2a receptor' SubClassOf 'Major susceptibility factor in' some 'Acute encephalopathy with biphasic seizures and late reduced diffusion' + 'adenosine A2a receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_207031 Label: Rare disease with corpus callosum agenesis associated with peripheral neuropathy - 'Rare disease with corpus callosum agenesis associated with peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare disease with corpus callosum agenesis associated with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_307936 Label: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'disease' - 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_173203 Label: hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) - 'hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)' SubClassOf 'gene' - 'hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperandrogenism due to cortisone reductase deficiency' + 'hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperandrogenism due to cortisone reductase deficiency' + 'hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2836 Label: PEHO syndrome - 'PEHO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PEHO syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'PEHO syndrome' SubClassOf 'disease' - 'PEHO syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'PEHO syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'PEHO syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'PEHO syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'PEHO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'PEHO syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'PEHO syndrome' SubClassOf 'disease' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'PEHO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PEHO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'PEHO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2837 Label: Pellagra-like skin rash - neurological manifestations - 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'part_of' some 'Disorder of tryptophan metabolism' - 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'disease' - 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'part_of' some 'Genetic photodermatosis' + 'Pellagra-like skin rash - neurological manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Pellagra-like skin rash - neurological manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Pellagra-like skin rash - neurological manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tryptophan metabolism' + 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2838 Label: Renal caliceal diverticuli - deafness - 'Renal caliceal diverticuli - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Renal caliceal diverticuli - deafness' SubClassOf 'malformation syndrome' - 'Renal caliceal diverticuli - deafness' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Renal caliceal diverticuli - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Renal caliceal diverticuli - deafness' SubClassOf 'malformation syndrome' + 'Renal caliceal diverticuli - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2839 Label: Pelvis-shoulder dysplasia - 'Pelvis-shoulder dysplasia' SubClassOf 'disease' - 'Pelvis-shoulder dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelvis-shoulder dysplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Pelvis-shoulder dysplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Pelvis-shoulder dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelvis-shoulder dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pelvis-shoulder dysplasia' SubClassOf 'disease' + 'Pelvis-shoulder dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Pelvis-shoulder dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelvis-shoulder dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pelvis-shoulder dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelvis-shoulder dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pelvis-shoulder dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_369265 Label: tumor necrosis factor (ligand) superfamily, member 4 - 'tumor necrosis factor (ligand) superfamily, member 4' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'tumor necrosis factor (ligand) superfamily, member 4' SubClassOf 'gene' + 'tumor necrosis factor (ligand) superfamily, member 4' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'tumor necrosis factor (ligand) superfamily, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor (ligand) superfamily, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2856 Label: Persistent M�llerian duct syndrome - 'Persistent M�llerian duct syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Persistent M�llerian duct syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some 'Rare genetic disorder with obstructive azoospermia' - 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some '46,XY disorder of sex development of endocrine origin' - 'Persistent M�llerian duct syndrome' SubClassOf 'malformation syndrome' - 'Persistent M�llerian duct syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Persistent M�llerian duct syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Persistent M�llerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development of endocrine origin' + 'Persistent M�llerian duct syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Persistent M�llerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Persistent M�llerian duct syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Persistent M�llerian duct syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Persistent M�llerian duct syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Persistent M�llerian duct syndrome' SubClassOf 'malformation syndrome' + 'Persistent M�llerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disorder with obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_163914 Label: Limbic encephalitis with nCMAgs antibodies - 'Limbic encephalitis with nCMAgs antibodies' SubClassOf 'disease' - 'Limbic encephalitis with nCMAgs antibodies' SubClassOf 'part_of' some 'Limbic encephalitis associated with antibodies to cell membrane antigens' + 'Limbic encephalitis with nCMAgs antibodies' SubClassOf 'disease' + 'Limbic encephalitis with nCMAgs antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limbic encephalitis associated with antibodies to cell membrane antigens' Class: http://www.orpha.net/ORDO/Orphanet_123357 Label: component of oligomeric golgi complex 8 - 'component of oligomeric golgi complex 8' SubClassOf 'gene' - 'component of oligomeric golgi complex 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG8-CDG' + 'component of oligomeric golgi complex 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'component of oligomeric golgi complex 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG8-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2855 Label: Perrault syndrome - 'Perrault syndrome' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Perrault syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - 'Perrault syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Perrault syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Perrault syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Perrault syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Perrault syndrome' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - 'Perrault syndrome' SubClassOf 'disease' - 'Perrault syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Perrault syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Perrault syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Perrault syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Perrault syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Perrault syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Perrault syndrome' SubClassOf 'disease' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Perrault syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2854 Label: Fuhrmann syndrome - 'Fuhrmann syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Fuhrmann syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Fuhrmann syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Fuhrmann syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Fuhrmann syndrome' SubClassOf 'malformation syndrome' - 'Fuhrmann syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fuhrmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fuhrmann syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Fuhrmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Fuhrmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fuhrmann syndrome' SubClassOf 'malformation syndrome' + 'Fuhrmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fuhrmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_330197 Label: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability - 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'group of disorders' + 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2850 Label: Alopecia-intellectual disability syndrome - 'Alopecia-intellectual disability syndrome' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alopecia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alopecia-intellectual disability syndrome' SubClassOf 'disease' + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alopecia-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123359 Label: crystallin, beta B1 - 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' - 'crystallin, beta B1' SubClassOf 'gene' + 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, beta B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'crystallin, beta B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99012 Label: Autosomal recessive optic atrophy, OPA6 type - 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf 'part_of' some 'Autosomal recessive isolated optic atrophy' - 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf 'disease' + 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated optic atrophy' + 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_207046 Label: Malignant lymphoma with peripheral neuropathy - 'Malignant lymphoma with peripheral neuropathy' SubClassOf 'group of disorders' + 'Malignant lymphoma with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99013 Label: Autosomal recessive spastic paraplegia type 7 - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99014 Label: X-linked Charcot-Marie-Tooth disease type 5 - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'part_of' some 'X-linked recessive hereditary axonal motor and sensory neuropathy' - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive hereditary axonal motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_99015 Label: Spastic paraplegia type 2 - 'Spastic paraplegia type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spastic paraplegia type 2' SubClassOf 'part_of' some 'Pure or complex X-linked spastic paraplegia' - 'Spastic paraplegia type 2' SubClassOf 'disease' - 'Spastic paraplegia type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spastic paraplegia type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Spastic paraplegia type 2' SubClassOf 'part_of' some 'Leukodystrophy' - 'Spastic paraplegia type 2' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' + 'Spastic paraplegia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Spastic paraplegia type 2' SubClassOf 'disease' + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Spastic paraplegia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex X-linked spastic paraplegia' + 'Spastic paraplegia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_207049 Label: Qualitative or quantitative protein defects in neuromuscular diseases - 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'group of disorders' + 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93283 Label: Spondyloepiphyseal dysplasia, Kimberley type - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggrecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_166812 Label: claudin 14 - 'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'claudin 14' SubClassOf 'gene' + 'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'claudin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'claudin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93284 Label: Spondyloepiphyseal dysplasia tarda - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepiphyseal dysplasia tarda' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia tarda' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_163918 Label: Non-paraneoplastic limbic encephalitis - 'Non-paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' + 'Non-paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_173206 Label: hydroxysteroid (11-beta) dehydrogenase 1 - 'hydroxysteroid (11-beta) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperandrogenism due to cortisone reductase deficiency' - 'hydroxysteroid (11-beta) dehydrogenase 1' SubClassOf 'gene' + 'hydroxysteroid (11-beta) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperandrogenism due to cortisone reductase deficiency' + 'hydroxysteroid (11-beta) dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxysteroid (11-beta) dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32-q41"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123352 Label: mirror-image polydactyly 1 - 'mirror-image polydactyly 1' SubClassOf 'gene' - 'mirror-image polydactyly 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laurin-Sandrow syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93282 Label: Spondyloepimetaphyseal dysplasia, Pakistani type - 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'part_of' some 'Sulfation-related bone disorder' + 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_173211 Label: TSPY-like 1 - 'TSPY-like 1' SubClassOf 'gene' - 'TSPY-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sudden infant death - dysgenesis of the testes' + 'TSPY-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'TSPY-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TSPY-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sudden infant death - dysgenesis of the testes' Class: http://www.orpha.net/ORDO/Orphanet_166803 Label: myosin IA - 'myosin IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin IA' SubClassOf 'gene' + 'myosin IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166809 Label: crystallin, mu - 'crystallin, mu' SubClassOf 'gene' - 'crystallin, mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'crystallin, mu' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'crystallin, mu' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93279 Label: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'disease' - 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'disease' + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_166807 Label: deafness, autosomal recessive 59 - 'deafness, autosomal recessive 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'deafness, autosomal recessive 59' SubClassOf 'gene' + 'deafness, autosomal recessive 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'deafness, autosomal recessive 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'deafness, autosomal recessive 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_365133 Label: polymerase (DNA directed), delta 1, catalytic subunit - 'polymerase (DNA directed), delta 1, catalytic subunit' SubClassOf 'gene' - 'polymerase (DNA directed), delta 1, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibular hypoplasia-deafness-progeroid syndrome' + 'polymerase (DNA directed), delta 1, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), delta 1, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibular hypoplasia-deafness-progeroid syndrome' + 'polymerase (DNA directed), delta 1, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2849 Label: Perlman syndrome - 'Perlman syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Perlman syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Perlman syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Perlman syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Perlman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Perlman syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Perlman syndrome' SubClassOf 'malformation syndrome' + 'Perlman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Perlman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Perlman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Perlman syndrome' SubClassOf 'malformation syndrome' + 'Perlman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_212604 Label: AFG3-like AAA ATPase 2 - 'AFG3-like AAA ATPase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 28' - 'AFG3-like AAA ATPase 2' SubClassOf 'gene' - 'AFG3-like AAA ATPase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset spastic ataxia-neuropathy syndrome' + 'AFG3-like AAA ATPase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'AFG3-like AAA ATPase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 28' + 'AFG3-like AAA ATPase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'AFG3-like AAA ATPase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset spastic ataxia-neuropathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307967 Label: Punctate palmoplantar keratoderma - 'Punctate palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Punctate palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2847 Label: Pericardial and diaphragmatic defect - 'Pericardial and diaphragmatic defect' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Pericardial and diaphragmatic defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pericardial and diaphragmatic defect' SubClassOf 'malformation syndrome' - 'Pericardial and diaphragmatic defect' SubClassOf 'part_of' some 'Rare genetic developmental defect during embryogenesis' - 'Pericardial and diaphragmatic defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Pericardial and diaphragmatic defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pericardial and diaphragmatic defect' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pericardial and diaphragmatic defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pericardial and diaphragmatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic developmental defect during embryogenesis' + 'Pericardial and diaphragmatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Pericardial and diaphragmatic defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pericardial and diaphragmatic defect' SubClassOf 'malformation syndrome' + 'Pericardial and diaphragmatic defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pericardial and diaphragmatic defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pericardial and diaphragmatic defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_365130 Label: CCCTC-binding factor (zinc finger protein) - 'CCCTC-binding factor (zinc finger protein)' SubClassOf 'gene' - 'CCCTC-binding factor (zinc finger protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' + 'CCCTC-binding factor (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CCCTC-binding factor (zinc finger protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' + 'CCCTC-binding factor (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q21-q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308698 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2848 Label: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2866 Label: Short stature - deafness - neutrophil dysfunction - dysmorphism - 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'malformation syndrome' + 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2865 Label: Short stature - webbed neck - heart disease - 'Short stature - webbed neck - heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature - webbed neck - heart disease' SubClassOf 'malformation syndrome' - 'Short stature - webbed neck - heart disease' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Short stature - webbed neck - heart disease' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Short stature - webbed neck - heart disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - webbed neck - heart disease' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Short stature - webbed neck - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature - webbed neck - heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature - webbed neck - heart disease' SubClassOf 'malformation syndrome' + 'Short stature - webbed neck - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Short stature - webbed neck - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature - webbed neck - heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Short stature - webbed neck - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - webbed neck - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2868 Label: Short stature - valvular heart disease - characteristic facies - 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'malformation syndrome' + 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Short stature - valvular heart disease - characteristic facies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature - valvular heart disease - characteristic facies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123369 Label: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) - 'transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' - 'transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'gene' + 'transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' + 'transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308684 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2867 Label: Short stature, Brussels type - 'Short stature, Brussels type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature, Brussels type' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Short stature, Brussels type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature, Brussels type' SubClassOf 'malformation syndrome' + 'Short stature, Brussels type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature, Brussels type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Short stature, Brussels type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Short stature, Brussels type' SubClassOf 'malformation syndrome' + 'Short stature, Brussels type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature, Brussels type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_163903 Label: Limbic encephalitis associated with antibodies to cell membrane antigens - 'Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf 'group of disorders' + 'Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99022 Label: Niemann-Pick disease type E - 'Niemann-Pick disease type E' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Niemann-Pick disease type E' SubClassOf 'has_prevalence' some 'Unknown' - 'Niemann-Pick disease type E' SubClassOf 'disease' + 'Niemann-Pick disease type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Niemann-Pick disease type E' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2863 Label: Short stature - wormian bones - dextrocardia - 'Short stature - wormian bones - dextrocardia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Short stature - wormian bones - dextrocardia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Short stature - wormian bones - dextrocardia' SubClassOf 'malformation syndrome' + 'Short stature - wormian bones - dextrocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature - wormian bones - dextrocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature - wormian bones - dextrocardia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93274 Label: Thanatophoric dysplasia type 2 - 'Thanatophoric dysplasia type 2' SubClassOf 'part_of' some 'Thanatophoric dysplasia' - 'Thanatophoric dysplasia type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thanatophoric dysplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thanatophoric dysplasia type 2' SubClassOf 'has_inheritance' some 'sporadic' - 'Thanatophoric dysplasia type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Thanatophoric dysplasia type 2' SubClassOf 'clinical subtype' + 'Thanatophoric dysplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thanatophoric dysplasia' + 'Thanatophoric dysplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thanatophoric dysplasia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thanatophoric dysplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thanatophoric dysplasia type 2' SubClassOf 'clinical subtype' + 'Thanatophoric dysplasia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_276432 Label: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'malformation syndrome' - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93276 Label: Polyostotic fibrous dysplasia - 'Polyostotic fibrous dysplasia' SubClassOf 'part_of' some 'Fibrous dysplasia of bone' - 'Polyostotic fibrous dysplasia' SubClassOf 'clinical subtype' + 'Polyostotic fibrous dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Polyostotic fibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibrous dysplasia of bone' + 'Polyostotic fibrous dysplasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93277 Label: Monostotic fibrous dysplasia - 'Monostotic fibrous dysplasia' SubClassOf 'part_of' some 'Fibrous dysplasia of bone' - 'Monostotic fibrous dysplasia' SubClassOf 'clinical subtype' + 'Monostotic fibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibrous dysplasia of bone' + 'Monostotic fibrous dysplasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_319480 Label: Acute myeloid leukemia with CEBPA somatic mutations - 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'part_of' some 'Genetic tumor of hematopoietic and lymphoid tissues' - 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'disease' + 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic tumor of hematopoietic and lymphoid tissues' + 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93270 Label: Short rib-polydactyly syndrome, Saldino-Noonan type - 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'malformation syndrome' - 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'malformation syndrome' + 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_319487 Label: Familial papillary or follicular thyroid carcinoma - 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'disease' - 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'part_of' some 'Familial nonmedullary thyroid carcinoma' + 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'disease' + 'Familial papillary or follicular thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial nonmedullary thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_276435 Label: Lower motor neuron syndrome with late-adult onset - 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' - 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'disease' - 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Lower motor neuron syndrome with late-adult onset' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'disease' + 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lower motor neuron syndrome with late-adult onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_163908 Label: Limbic encephalitis with LGI1 antibodies - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'disease' - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'part_of' some 'Limbic encephalitis associated with antibodies to cell membrane antigens' - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with LGI1 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with LGI1 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limbic encephalitis associated with antibodies to cell membrane antigens' + 'Limbic encephalitis with LGI1 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' + 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_173216 Label: methionine adenosyltransferase I, alpha - 'methionine adenosyltransferase I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain demyelination due to methionine adenosyltransferase deficiency' - 'methionine adenosyltransferase I, alpha' SubClassOf 'gene' + 'methionine adenosyltransferase I, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'methionine adenosyltransferase I, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain demyelination due to methionine adenosyltransferase deficiency' + 'methionine adenosyltransferase I, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93271 Label: Short rib-polydactyly syndrome, Verma-Naumoff type - 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'malformation syndrome' - 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'malformation syndrome' + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99027 Label: Adult-onset autosomal dominant leukodystrophy - 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 5' - 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'disease' - 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'part_of' some 'Abnormal eye movements' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'disease' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 5' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' Class: http://www.orpha.net/ORDO/Orphanet_395071 Label: Yes-associated protein 1 - 'Yes-associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Uveal coloboma - cleft lip and palate - intellectual disability' - 'Yes-associated protein 1' SubClassOf 'gene' + 'Yes-associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Uveal coloboma - cleft lip and palate - intellectual disability' + 'Yes-associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Yes-associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123364 Label: homeobox A1 - 'homeobox A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athabaskan brainstem dysgenesis syndrome' - 'homeobox A1' SubClassOf 'gene' - 'homeobox A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bosley-Salih-Alorainy syndrome' + 'homeobox A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athabaskan brainstem dysgenesis syndrome' + 'homeobox A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homeobox A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bosley-Salih-Alorainy syndrome' + 'homeobox A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166800 Label: otoancorin - 'otoancorin' SubClassOf 'gene' - 'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'otoancorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'otoancorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276429 Label: Hypnic headache - 'Hypnic headache' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypnic headache' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hypnic headache' SubClassOf 'disease' - 'Hypnic headache' SubClassOf 'part_of' some 'Rare headache' - 'Hypnic headache' SubClassOf 'has_inheritance' some 'sporadic' + 'Hypnic headache' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hypnic headache' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Hypnic headache' SubClassOf 'disease' + 'Hypnic headache' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_173222 Label: transmembrane protease, serine 15 - 'transmembrane protease, serine 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital enteropathy due to enteropeptidase deficiency' - 'transmembrane protease, serine 15' SubClassOf 'gene' + 'transmembrane protease, serine 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q21"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protease, serine 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital enteropathy due to enteropeptidase deficiency' + 'transmembrane protease, serine 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_207052 Label: Qualitative or quantitative defects of sarcoglycan - 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31142 Label: Oral erosive lichen - 'Oral erosive lichen' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Oral erosive lichen' SubClassOf 'disease' + 'Oral erosive lichen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Oral erosive lichen' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93268 Label: Short rib-polydactyly syndrome, Beemer-Langer type - 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'malformation syndrome' - 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93267 Label: Cloverleaf skull - multiple congenital anomalies - 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'malformation syndrome' - 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'malformation syndrome' + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93269 Label: Short rib-polydactyly syndrome, Majewski type - 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'malformation syndrome' - 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'malformation syndrome' + 'Short rib-polydactyly syndrome, Majewski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_131 Label: Budd-Chiari syndrome - 'Budd-Chiari syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Budd-Chiari syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Budd-Chiari syndrome' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Budd-Chiari syndrome' SubClassOf 'disease' - 'Budd-Chiari syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' + 'Budd-Chiari syndrome' SubClassOf 'disease' + 'Budd-Chiari syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Budd-Chiari syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_132 Label: Butyrylcholinesterase deficiency - 'Butyrylcholinesterase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Butyrylcholinesterase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Butyrylcholinesterase deficiency' SubClassOf 'part_of' some 'Metabolic disease involving other neurotransmitter deficiency' - 'Butyrylcholinesterase deficiency' SubClassOf 'disease' + 'Butyrylcholinesterase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Butyrylcholinesterase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Butyrylcholinesterase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Butyrylcholinesterase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease involving other neurotransmitter deficiency' + 'Butyrylcholinesterase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_130 Label: Brugada syndrome - 'Brugada syndrome' SubClassOf 'disease' - 'Brugada syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Brugada syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Brugada syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Brugada syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brugada syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Brugada syndrome' SubClassOf 'disease' + 'Brugada syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Brugada syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409989) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "75.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Brugada syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Brugada syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Brugada syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brugada syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_377602 Label: chemokine (C-C motif) receptor 6 - 'chemokine (C-C motif) receptor 6' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' - 'chemokine (C-C motif) receptor 6' SubClassOf 'gene' - 'chemokine (C-C motif) receptor 6' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'chemokine (C-C motif) receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chemokine (C-C motif) receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'chemokine (C-C motif) receptor 6' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'chemokine (C-C motif) receptor 6' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_308638 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139 Label: CHILD syndrome - 'CHILD syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CHILD syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CHILD syndrome' SubClassOf 'part_of' some 'Chondrodysplasia punctata' - 'CHILD syndrome' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'CHILD syndrome' SubClassOf 'part_of' some 'X-linked ichthyosis syndrome' - 'CHILD syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CHILD syndrome' SubClassOf 'disease' - 'CHILD syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'CHILD syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'CHILD syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'CHILD syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'CHILD syndrome' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'CHILD syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CHILD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked ichthyosis syndrome' + 'CHILD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'CHILD syndrome' SubClassOf 'disease' + 'CHILD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CHILD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CHILD syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_173230 Label: alpha-fetoprotein - 'alpha-fetoprotein' SubClassOf 'gene' - 'alpha-fetoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of alpha-fetoprotein' - 'alpha-fetoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital deficiency in alpha-fetoprotein' + 'alpha-fetoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alpha-fetoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'alpha-fetoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of alpha-fetoprotein' + 'alpha-fetoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital deficiency in alpha-fetoprotein' Class: http://www.orpha.net/ORDO/Orphanet_93213 Label: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis - 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' - 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'part_of' some 'Familial idiopathic steroid-resistant nephrotic syndrome' - 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' + 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93214 Label: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation - 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' - 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'part_of' some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_401908 Label: T cell receptor alpha constant - 'T cell receptor alpha constant' SubClassOf 'Disease-causing germline mutation(s) in' some 'TCR-alpha-beta-positive T-cell deficiency' - 'T cell receptor alpha constant' SubClassOf 'gene' + 'T cell receptor alpha constant' SubClassOf 'Disease-causing germline mutation(s) in' some 'TCR-alpha-beta-positive T-cell deficiency' + 'T cell receptor alpha constant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'T cell receptor alpha constant' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137 Label: Congenital disorder of glycosylation - 'Congenital disorder of glycosylation' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital disorder of glycosylation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital disorder of glycosylation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital disorder of glycosylation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital disorder of glycosylation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_138 Label: CHARGE syndrome - 'CHARGE syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'CHARGE syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CHARGE syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'CHARGE syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'CHARGE syndrome' SubClassOf 'malformation syndrome' - 'CHARGE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'CHARGE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'CHARGE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'CHARGE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'CHARGE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'CHARGE syndrome' SubClassOf 'malformation syndrome' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_93216 Label: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes - 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'histopathological subtype' - 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'part_of' some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'histopathological subtype' + 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_135 Label: CACH syndrome - 'CACH syndrome' SubClassOf 'part_of' some 'Leukodystrophy' - 'CACH syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CACH syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CACH syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'CACH syndrome' SubClassOf 'disease' + 'CACH syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CACH syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'CACH syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93217 Label: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis - 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'histopathological subtype' - 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'part_of' some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial idiopathic steroid-resistant nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_136 Label: CADASIL - 'CADASIL' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'CADASIL' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'CADASIL' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CADASIL' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'CADASIL' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CADASIL' SubClassOf 'part_of' some 'Cerebrovascular dementia' - 'CADASIL' SubClassOf 'disease' - 'CADASIL' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'CADASIL' SubClassOf 'part_of' some 'Genetic cerebrovascular dementia' + 'CADASIL' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'CADASIL' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'CADASIL' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'CADASIL' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebrovascular dementia' + 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'CADASIL' SubClassOf 'disease' + 'CADASIL' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_93218 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_133 Label: Chronic berylliosis - 'Chronic berylliosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic berylliosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic berylliosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Chronic berylliosis' SubClassOf 'part_of' some 'Pneumoconiosis' - 'Chronic berylliosis' SubClassOf 'disease' + 'Chronic berylliosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic berylliosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic berylliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pneumoconiosis' + 'Chronic berylliosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119222 Label: chaperonin containing TCP1, subunit 5 (epsilon) - 'chaperonin containing TCP1, subunit 5 (epsilon)' SubClassOf 'gene' - 'chaperonin containing TCP1, subunit 5 (epsilon)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' + 'chaperonin containing TCP1, subunit 5 (epsilon)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' + 'chaperonin containing TCP1, subunit 5 (epsilon)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chaperonin containing TCP1, subunit 5 (epsilon)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_134 Label: Ketoacidosis due to beta-ketothiolase deficiency - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'disease' - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'disease' + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_173226 Label: zinc finger protein 750 - 'zinc finger protein 750' SubClassOf 'gene' - 'zinc finger protein 750' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seborrhea-like dermatitis with psoriasiform elements' + 'zinc finger protein 750' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seborrhea-like dermatitis with psoriasiform elements' + 'zinc finger protein 750' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 750' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401911 Label: AXIN2-related attenuated familial adenomatous polyposis - 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_93220 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'histopathological subtype' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_265545 Label: processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) - 'processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)' SubClassOf 'gene' - 'processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' + 'processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93222 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_395065 Label: integrin, alpha 8 - 'integrin, alpha 8' SubClassOf 'gene' - 'integrin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' + 'integrin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_93221 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_120761 Label: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase - 'collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase' SubClassOf 'gene' - 'collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synaptic congenital myasthenic syndromes' + 'collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synaptic congenital myasthenic syndromes' + 'collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p"^^http://www.w3.org/2001/XMLSchema#string + 'collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_212618 Label: spinocerebellar ataxia 30 - 'spinocerebellar ataxia 30' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 30' - 'spinocerebellar ataxia 30' SubClassOf 'gene' + 'spinocerebellar ataxia 30' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 30' + 'spinocerebellar ataxia 30' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spinocerebellar ataxia 30' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q34.3-q35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120763 Label: cartilage oligomeric matrix protein - 'cartilage oligomeric matrix protein' SubClassOf 'gene' - 'cartilage oligomeric matrix protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoachondroplasia' - 'cartilage oligomeric matrix protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 1' + 'cartilage oligomeric matrix protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cartilage oligomeric matrix protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'cartilage oligomeric matrix protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoachondroplasia' + 'cartilage oligomeric matrix protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_93209 Label: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation - 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308621 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_322097 Label: patatin-like phospholipase domain containing 1 - 'patatin-like phospholipase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' - 'patatin-like phospholipase domain containing 1' SubClassOf 'gene' + 'patatin-like phospholipase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'patatin-like phospholipase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'patatin-like phospholipase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_212612 Label: spinocerebellar ataxia 25 - 'spinocerebellar ataxia 25' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 25' - 'spinocerebellar ataxia 25' SubClassOf 'gene' + 'spinocerebellar ataxia 25' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spinocerebellar ataxia 25' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 25' + 'spinocerebellar ataxia 25' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21-p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209370 Label: Severe neonatal-onset encephalopathy with microcephaly - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'disease' - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'disease' + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_212610 Label: spinocerebellar ataxia 20 - 'spinocerebellar ataxia 20' SubClassOf 'gene' - 'spinocerebellar ataxia 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 20' + 'spinocerebellar ataxia 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spinocerebellar ataxia 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'spinocerebellar ataxia 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 20' Class: http://www.orpha.net/ORDO/Orphanet_126 Label: Blepharophimosis - epicanthus inversus - ptosis - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Secondary ectropion' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'malformation syndrome' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Telecanthus' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some 'Ptosis' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Telecanthus' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'malformation syndrome' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_127 Label: Borjeson-Forssman-Lehmann syndrome - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'malformation syndrome' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'malformation syndrome' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_128 Label: Diphyllobothriasis - 'Diphyllobothriasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diphyllobothriasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Diphyllobothriasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Diphyllobothriasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Diphyllobothriasis' SubClassOf 'disease' + 'Diphyllobothriasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diphyllobothriasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Diphyllobothriasis' SubClassOf 'disease' + 'Diphyllobothriasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Diphyllobothriasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diphyllobothriasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.88"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119217 Label: cyclin D1 - 'cyclin D1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' - 'cyclin D1' SubClassOf 'Major susceptibility factor in' some 'Multiple myeloma' - 'cyclin D1' SubClassOf 'Part of a fusion gene in' some 'B-cell chronic lymphocytic leukemia' - 'cyclin D1' SubClassOf 'gene' + 'cyclin D1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' + 'cyclin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin D1' SubClassOf 'Major susceptibility factor in' some 'Multiple myeloma' + 'cyclin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin D1' SubClassOf 'Part of a fusion gene in' some 'B-cell chronic lymphocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_129 Label: Pseudopelade of Brocq - 'Pseudopelade of Brocq' SubClassOf 'part_of' some 'Alopecia' - 'Pseudopelade of Brocq' SubClassOf 'disease' - 'Pseudopelade of Brocq' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pseudopelade of Brocq' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudopelade of Brocq' SubClassOf 'has_prevalence' some 'Unknown' + 'Pseudopelade of Brocq' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pseudopelade of Brocq' SubClassOf 'disease' + 'Pseudopelade of Brocq' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Pseudopelade of Brocq' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_173240 Label: cytochrome c, somatic - 'cytochrome c, somatic' SubClassOf 'gene' - 'cytochrome c, somatic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' + 'cytochrome c, somatic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c, somatic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' + 'cytochrome c, somatic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93207 Label: Idiopathic steroid-sensitive nephrotic syndrome with minimal change - 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'histopathological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'histopathological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122 Label: Birt-Hogg-Dub� syndrome - 'Birt-Hogg-Dub� syndrome' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'malformation syndrome' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Birt-Hogg-Dub� syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Birt-Hogg-Dub� syndrome' SubClassOf 'malformation syndrome' + 'Birt-Hogg-Dub� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Birt-Hogg-Dub� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Birt-Hogg-Dub� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Birt-Hogg-Dub� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Birt-Hogg-Dub� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Birt-Hogg-Dub� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123 Label: Bj�rnstad syndrome - 'Bj�rnstad syndrome' SubClassOf 'disease' - 'Bj�rnstad syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Bj�rnstad syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bj�rnstad syndrome' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Bj�rnstad syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bj�rnstad syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bj�rnstad syndrome' SubClassOf 'disease' + 'Bj�rnstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' + 'Bj�rnstad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bj�rnstad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bj�rnstad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bj�rnstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Bj�rnstad syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_166815 Label: actin, gamma 1 - 'actin, gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baraitser-Winter syndrome' - 'actin, gamma 1' SubClassOf 'gene' - 'actin, gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'actin, gamma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'actin, gamma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string + 'actin, gamma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Baraitser-Winter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124 Label: Blackfan-Diamond anemia - 'Blackfan-Diamond anemia' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Blackfan-Diamond anemia' SubClassOf 'disease' - 'Blackfan-Diamond anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Blackfan-Diamond anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blackfan-Diamond anemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Blackfan-Diamond anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blackfan-Diamond anemia' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Blackfan-Diamond anemia' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Blackfan-Diamond anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blackfan-Diamond anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blackfan-Diamond anemia' SubClassOf 'disease' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Blackfan-Diamond anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Blackfan-Diamond anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Blackfan-Diamond anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Blackfan-Diamond anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Blackfan-Diamond anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blackfan-Diamond anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_119213 Label: cerebral cavernous malformation 2 - 'cerebral cavernous malformation 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' - 'cerebral cavernous malformation 2' SubClassOf 'gene' + 'cerebral cavernous malformation 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary cerebral cavernous malformation' + 'cerebral cavernous malformation 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cerebral cavernous malformation 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93206 Label: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis - 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_325286 Label: ectodysplasin A2 receptor - 'ectodysplasin A2 receptor' SubClassOf 'gene' - 'ectodysplasin A2 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypohidrotic ectodermal dysplasia' + 'ectodysplasin A2 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ectodysplasin A2 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypohidrotic ectodermal dysplasia' + 'ectodysplasin A2 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_125 Label: Bloom syndrome - 'Bloom syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bloom syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Bloom syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bloom syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Bloom syndrome' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Bloom syndrome' SubClassOf 'disease' - 'Bloom syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Bloom syndrome' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Bloom syndrome' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Bloom syndrome' SubClassOf 'part_of' some 'Tumor of hematopoietic and lymphoid tissues' - 'Bloom syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bloom syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Bloom syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Bloom syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of hematopoietic and lymphoid tissues' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Bloom syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Bloom syndrome' SubClassOf 'disease' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Bloom syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_325281 Label: TNF receptor-associated factor 6, E3 ubiquitin protein ligase - 'TNF receptor-associated factor 6, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' - 'TNF receptor-associated factor 6, E3 ubiquitin protein ligase' SubClassOf 'gene' + 'TNF receptor-associated factor 6, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' + 'TNF receptor-associated factor 6, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p12"^^http://www.w3.org/2001/XMLSchema#string + 'TNF receptor-associated factor 6, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_37748 Label: Schnitzler syndrome - 'Schnitzler syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Schnitzler syndrome' SubClassOf 'part_of' some 'Rare urticaria' - 'Schnitzler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schnitzler syndrome' SubClassOf 'malformation syndrome' - 'Schnitzler syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Schnitzler syndrome' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Schnitzler syndrome' SubClassOf 'part_of' some 'Unexplained periodic fever syndrome' + 'Schnitzler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unexplained periodic fever syndrome' + 'Schnitzler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Schnitzler syndrome' SubClassOf 'malformation syndrome' + 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Schnitzler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119 Label: Autosomal recessive limb-girdle muscular dystrophy type 2E - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-sarcoglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-sarcoglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_401901 Label: Huntington disease-like syndrome due to C9ORF72 expansions - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease' - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120770 Label: coenzyme Q2 4-hydroxybenzoate polyprenyltransferase - 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Major susceptibility factor in' some 'Multiple system atrophy, parkinsonian type' - 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'gene' - 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' - 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Major susceptibility factor in' some 'Multiple system atrophy, cerebellar type' + 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Major susceptibility factor in' some 'Multiple system atrophy, parkinsonian type' + 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.23"^^http://www.w3.org/2001/XMLSchema#string + 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' + 'coenzyme Q2 4-hydroxybenzoate polyprenyltransferase' SubClassOf 'Major susceptibility factor in' some 'Multiple system atrophy, cerebellar type' Class: http://www.orpha.net/ORDO/Orphanet_395056 Label: post-GPI attachment to proteins 3 - 'post-GPI attachment to proteins 3' SubClassOf 'gene' - 'post-GPI attachment to proteins 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'post-GPI attachment to proteins 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hyperphosphatasia-intellectual disability syndrome' + 'post-GPI attachment to proteins 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'post-GPI attachment to proteins 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_291802 Label: receptor-interacting serine-threonine kinase 4 - 'receptor-interacting serine-threonine kinase 4' SubClassOf 'gene' - 'receptor-interacting serine-threonine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bartsocas-Papas syndrome' + 'receptor-interacting serine-threonine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'receptor-interacting serine-threonine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bartsocas-Papas syndrome' + 'receptor-interacting serine-threonine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120774 Label: cytochrome c oxidase assembly homolog 10 (yeast) - 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' - 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'gene' - 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase assembly homolog 10 (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120776 Label: cytochrome c oxidase assembly homolog 15 (yeast) - 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' - 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf 'gene' - 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase assembly homolog 15 (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_236967 Label: CD79b molecule, immunoglobulin-associated beta - 'CD79b molecule, immunoglobulin-associated beta' SubClassOf 'gene' - 'CD79b molecule, immunoglobulin-associated beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'CD79b molecule, immunoglobulin-associated beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23"^^http://www.w3.org/2001/XMLSchema#string + 'CD79b molecule, immunoglobulin-associated beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD79b molecule, immunoglobulin-associated beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_33475 Label: Meningococcal meningitis - 'Meningococcal meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Meningococcal meningitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Meningococcal meningitis' SubClassOf 'disease' - 'Meningococcal meningitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Meningococcal meningitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Meningococcal meningitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Meningococcal meningitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningococcal meningitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningococcal meningitis' SubClassOf 'disease' + 'Meningococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_110 Label: Bardet-Biedl syndrome - 'Bardet-Biedl syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Bardet-Biedl syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Bardet-Biedl syndrome' SubClassOf 'disease' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' - 'Bardet-Biedl syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Bardet-Biedl syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bardet-Biedl syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bardet-Biedl syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Bardet-Biedl syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409936 + 'Bardet-Biedl syndrome' SubClassOf 'disease' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Bardet-Biedl syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_235832 Label: Congenital vascular bone syndrome - 'Congenital vascular bone syndrome' SubClassOf 'group of disorders' + 'Congenital vascular bone syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315306 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'part_of' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'clinical subtype' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_120778 Label: ceruloplasmin (ferroxidase) - 'ceruloplasmin (ferroxidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aceruloplasminemia' - 'ceruloplasmin (ferroxidase)' SubClassOf 'gene' + 'ceruloplasmin (ferroxidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aceruloplasminemia' + 'ceruloplasmin (ferroxidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ceruloplasmin (ferroxidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23-q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308655 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_113 Label: Bazex-Dupr�-Christol syndrome - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'part_of' some 'Congenital absence of the eyebrow/eyelashes' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'disease' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'part_of' some 'Malignant tumor of palpebral epidermis' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bazex-Dupr�-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bazex-Dupr�-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bazex-Dupr�-Christol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bazex-Dupr�-Christol syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Bazex-Dupr�-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Bazex-Dupr�-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of palpebral epidermis' + 'Bazex-Dupr�-Christol syndrome' SubClassOf 'disease' + 'Bazex-Dupr�-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of the eyebrow/eyelashes' Class: http://www.orpha.net/ORDO/Orphanet_114 Label: Auriculoosteodysplasia - 'Auriculoosteodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Auriculoosteodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Auriculoosteodysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Auriculoosteodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Auriculoosteodysplasia' SubClassOf 'malformation syndrome' + 'Auriculoosteodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Auriculoosteodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Auriculoosteodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Auriculoosteodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Auriculoosteodysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_111 Label: Barth syndrome - 'Barth syndrome' SubClassOf 'disease' - 'Barth syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Barth syndrome' SubClassOf 'part_of' some '3-methylglutaconic aciduria' - 'Barth syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Barth syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Barth syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Barth syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Barth syndrome' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' - 'Barth syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Barth syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'Barth syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + 'Barth syndrome' SubClassOf 'disease' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Barth syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Barth syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Barth syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Barth syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Barth syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119244 Label: CD40 molecule, TNF receptor superfamily member 5 - 'CD40 molecule, TNF receptor superfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 3' - 'CD40 molecule, TNF receptor superfamily member 5' SubClassOf 'gene' + 'CD40 molecule, TNF receptor superfamily member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q12-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'CD40 molecule, TNF receptor superfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 3' + 'CD40 molecule, TNF receptor superfamily member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_112 Label: Bartter syndrome - 'Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Bartter syndrome' SubClassOf 'disease' - 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bartter syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bartter syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Bartter syndrome' SubClassOf 'disease' + 'Bartter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bartter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410110) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Bartter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_117 Label: Beh�et disease - 'Beh�et disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Beh�et disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Beh�et disease' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Beh�et disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Beh�et disease' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Beh�et disease' SubClassOf 'disease' - 'Beh�et disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Beh�et disease' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Beh�et disease' SubClassOf 'part_of' some 'Systemic diseases with posterior uveitis' - 'Beh�et disease' SubClassOf 'part_of' some 'Systemic diseases with panuveitis' - 'Beh�et disease' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Beh�et disease' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with panuveitis' + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with posterior uveitis' + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "225.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf 'disease' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.58"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Beh�et disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Beh�et disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beh�et disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' + 'Beh�et disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_207000 Label: Fungal myositis - 'Fungal myositis' SubClassOf 'part_of' some 'Infectious, fungal or parasitic myopathy' - 'Fungal myositis' SubClassOf 'disease' + 'Fungal myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious, fungal or parasitic myopathy' + 'Fungal myositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118 Label: Beta-mannosidosis - 'Beta-mannosidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Beta-mannosidosis' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Beta-mannosidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Beta-mannosidosis' SubClassOf 'disease' - 'Beta-mannosidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beta-mannosidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-mannosidosis' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Beta-mannosidosis' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Beta-mannosidosis' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Beta-mannosidosis' SubClassOf 'disease' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Beta-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Beta-mannosidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Beta-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beta-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Beta-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' Class: http://www.orpha.net/ORDO/Orphanet_115 Label: Congenital contractural arachnodactyly - 'Congenital contractural arachnodactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital contractural arachnodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital contractural arachnodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital contractural arachnodactyly' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Congenital contractural arachnodactyly' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Congenital contractural arachnodactyly' SubClassOf 'malformation syndrome' + 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Congenital contractural arachnodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Congenital contractural arachnodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital contractural arachnodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_116 Label: Beckwith-Wiedemann syndrome - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Beckwith-Wiedemann syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Beckwith-Wiedemann syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Beckwith-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beckwith-Wiedemann syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome' SubClassOf 'malformation syndrome' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Macroglossia' - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Beckwith-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Beckwith-Wiedemann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Beckwith-Wiedemann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410101) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Beckwith-Wiedemann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Beckwith-Wiedemann syndrome' SubClassOf 'malformation syndrome' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_119249 Label: CD40 ligand - 'CD40 ligand' SubClassOf 'gene' - 'CD40 ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hyper-IgM syndrome' + 'CD40 ligand' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string + 'CD40 ligand' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD40 ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hyper-IgM syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262707 Label: Partial duplication of the short arm of chromosome 3 - 'Partial duplication of the short arm of chromosome 3' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120780 Label: carboxypeptidase A6 - 'carboxypeptidase A6' SubClassOf 'gene' - 'carboxypeptidase A6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial mesial temporal lobe epilepsy with febrile seizures' + 'carboxypeptidase A6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial mesial temporal lobe epilepsy with febrile seizures' + 'carboxypeptidase A6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'carboxypeptidase A6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401935 Label: 14q24.1q24.3 microdeletion syndrome - '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - '14q24.1q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_402549 Label: RNA-binding region (RNP1, RRM) containing 3 - 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf 'gene' - 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' + 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' + 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_109 Label: Bannayan-Riley-Ruvalcaba syndrome - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'PTEN hamartoma tumor syndrome' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'malformation syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PTEN hamartoma tumor syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207003 Label: Endocrine myopathy - 'Endocrine myopathy' SubClassOf 'group of disorders' + 'Endocrine myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108 Label: Babesiosis - 'Babesiosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Babesiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Babesiosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Babesiosis' SubClassOf 'disease' - 'Babesiosis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Babesiosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Babesiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Babesiosis' SubClassOf 'disease' + 'Babesiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Babesiosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_401930 Label: tripartite motif containing 2 - 'tripartite motif containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2R' - 'tripartite motif containing 2' SubClassOf 'gene' + 'tripartite motif containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripartite motif containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Charcot-Marie-Tooth disease type 2R' + 'tripartite motif containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_207009 Label: Acquired rod-body myopathy - 'Acquired rod-body myopathy' SubClassOf 'group of disorders' + 'Acquired rod-body myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291819 Label: enhancer of zeste 2 polycomb repressive complex 2 subunit - 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf 'gene' - 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weaver syndrome' + 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weaver syndrome' + 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q35-q36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_207006 Label: Acquired amyloid myopathy - 'Acquired amyloid myopathy' SubClassOf 'group of disorders' + 'Acquired amyloid myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120788 Label: carbamoyl-phosphate synthase 1, mitochondrial - 'carbamoyl-phosphate synthase 1, mitochondrial' SubClassOf 'gene' - 'carbamoyl-phosphate synthase 1, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carbamoyl-phosphate synthase deficiency' + 'carbamoyl-phosphate synthase 1, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p"^^http://www.w3.org/2001/XMLSchema#string + 'carbamoyl-phosphate synthase 1, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carbamoyl-phosphate synthase deficiency' + 'carbamoyl-phosphate synthase 1, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291813 Label: collagen, type IV, alpha 2 - 'collagen, type IV, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial porencephaly' - 'collagen, type IV, alpha 2' SubClassOf 'gene' + 'collagen, type IV, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial porencephaly' Class: http://www.orpha.net/ORDO/Orphanet_120783 Label: coproporphyrinogen oxidase - 'coproporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary coproporphyria' - 'coproporphyrinogen oxidase' SubClassOf 'gene' + 'coproporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q12"^^http://www.w3.org/2001/XMLSchema#string + 'coproporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary coproporphyria' + 'coproporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100 Label: Ataxia-telangiectasia - 'Ataxia-telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Ataxia-telangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Skin vascular disease' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Conjunctival telangiectasia' - 'Ataxia-telangiectasia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ataxia-telangiectasia' SubClassOf 'disease' + 'Ataxia-telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conjunctival telangiectasia' + 'Ataxia-telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Ataxia-telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia-telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ataxia-telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Ataxia-telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Ataxia-telangiectasia' SubClassOf 'disease' + 'Ataxia-telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101 Label: Dentatorubral pallidoluysian atrophy - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia' - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dentatorubral pallidoluysian atrophy' SubClassOf 'disease' + 'Dentatorubral pallidoluysian atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Dentatorubral pallidoluysian atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentatorubral pallidoluysian atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Dentatorubral pallidoluysian atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 4' + 'Dentatorubral pallidoluysian atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Dentatorubral pallidoluysian atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Dentatorubral pallidoluysian atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Dentatorubral pallidoluysian atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_102 Label: Multiple system atrophy - 'Multiple system atrophy' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Multiple system atrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Multiple system atrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple system atrophy' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Multiple system atrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple system atrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple system atrophy' SubClassOf 'disease' - 'Multiple system atrophy' SubClassOf 'part_of' some 'Primary orthostatic hypotension' + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410063) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Multiple system atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Multiple system atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf 'disease' + 'Multiple system atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119235 Label: CD19 molecule - 'CD19 molecule' SubClassOf 'gene' - 'CD19 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD19 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD19 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD19 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_103 Label: Genetic optic atrophy - 'Genetic optic atrophy' SubClassOf 'group of disorders' + 'Genetic optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Genetic optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Genetic optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genetic optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Genetic optic atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104 Label: Leber hereditary optic neuropathy - 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Optic neuropathy' - 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Leber hereditary optic neuropathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Leber hereditary optic neuropathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Leber hereditary optic neuropathy' SubClassOf 'disease' - 'Leber hereditary optic neuropathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Leber hereditary optic neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber hereditary optic neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber hereditary optic neuropathy' SubClassOf 'disease' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Leber hereditary optic neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber hereditary optic neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber hereditary optic neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Leber hereditary optic neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Leber hereditary optic neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Leber hereditary optic neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_105 Label: Atresia of urethra - 'Atresia of urethra' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Atresia of urethra' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Atresia of urethra' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Atresia of urethra' SubClassOf 'morphological anomaly' + 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Atresia of urethra' SubClassOf 'morphological anomaly' + 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_107 Label: BOR syndrome - 'BOR syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'BOR syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'BOR syndrome' SubClassOf 'part_of' some 'Otomandibular dysplasia associated with monogenic syndromes' - 'BOR syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'BOR syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'BOR syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'BOR syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'BOR syndrome' SubClassOf 'malformation syndrome' - 'BOR syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'BOR syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'BOR syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'BOR syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BOR syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'BOR syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'BOR syndrome' SubClassOf 'malformation syndrome' + 'BOR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otomandibular dysplasia associated with monogenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_207012 Label: Spinal muscular atrophy associated with central nervous system anomaly - 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'group of disorders' + 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262716 Label: Partial duplication of the short arm of chromosome 4 - 'Partial duplication of the short arm of chromosome 4' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401923 Label: 9q31.1q31.3 microdeletion syndrome - '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' - '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '9q31.1q31.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120790 Label: carnitine palmitoyltransferase 1A (liver) - 'carnitine palmitoyltransferase 1A (liver)' SubClassOf 'gene' - 'carnitine palmitoyltransferase 1A (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase 1A deficiency' + 'carnitine palmitoyltransferase 1A (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Carnitine palmitoyl transferase 1A deficiency' + 'carnitine palmitoyltransferase 1A (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'carnitine palmitoyltransferase 1A (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_207015 Label: Rare hereditary disease with peripheral neuropathy - 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_207018 Label: Rare hereditary metabolic disease with peripheral neuropathy - 'Rare hereditary metabolic disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare hereditary metabolic disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401920 Label: Fibrolamellar hepatocellular carcinoma - 'Fibrolamellar hepatocellular carcinoma' SubClassOf 'disease' + 'Fibrolamellar hepatocellular carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_242004 Label: RAD50 homolog (S. cerevisiae) - 'RAD50 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome-like disorder' - 'RAD50 homolog (S. cerevisiae)' SubClassOf 'gene' - 'RAD50 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD50 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD50 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome-like disorder' + 'RAD50 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23-q31"^^http://www.w3.org/2001/XMLSchema#string + 'RAD50 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120795 Label: carnitine palmitoyltransferase 2 - 'carnitine palmitoyltransferase 2' SubClassOf 'gene' - 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, myopathic form' - 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, severe infantile form' - 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, neonatal form' - 'carnitine palmitoyltransferase 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' + 'carnitine palmitoyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, myopathic form' + 'carnitine palmitoyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, neonatal form' + 'carnitine palmitoyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine palmitoyl transferase II deficiency, severe infantile form' + 'carnitine palmitoyltransferase 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' Class: http://www.orpha.net/ORDO/Orphanet_357802 Label: lines homolog (Drosophila) - 'lines homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'lines homolog (Drosophila)' SubClassOf 'gene' + 'lines homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'lines homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'lines homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_179 Label: Birdshot chorioretinopathy - 'Birdshot chorioretinopathy' SubClassOf 'disease' - 'Birdshot chorioretinopathy' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' - 'Birdshot chorioretinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Birdshot chorioretinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Birdshot chorioretinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Birdshot chorioretinopathy' SubClassOf 'disease' + 'Birdshot chorioretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Birdshot chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious posterior uveitis' + 'Birdshot chorioretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Birdshot chorioretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_178 Label: Chordoma - 'Chordoma' SubClassOf 'part_of' some 'Genetic endocrine tumor' - 'Chordoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Chordoma' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Chordoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chordoma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Chordoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chordoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Chordoma' SubClassOf 'disease' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic endocrine tumor' + 'Chordoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Chordoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chordoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Chordoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chordoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262725 Label: Partial trisomy/tetrasomy of the short arm of chromosome 5 - 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119266 Label: codanin 1 - 'codanin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' - 'codanin 1' SubClassOf 'gene' + 'codanin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' + 'codanin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.2"^^http://www.w3.org/2001/XMLSchema#string + 'codanin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_177 Label: Rhizomelic chondrodysplasia punctata - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Peroxisomal disease' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'disease' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Chondrodysplasia punctata' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'disease' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' + 'Rhizomelic chondrodysplasia punctata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_176 Label: Non-rhizomelic chondrodysplasia punctata - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'group of disorders' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'group of disorders' + 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_175 Label: Cartilage-hair hypoplasia - 'Cartilage-hair hypoplasia' SubClassOf 'part_of' some 'Immuno-osseous dysplasia' - 'Cartilage-hair hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Cartilage-hair hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cartilage-hair hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cartilage-hair hypoplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Cartilage-hair hypoplasia' SubClassOf 'disease' - 'Cartilage-hair hypoplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Cartilage-hair hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Cartilage-hair hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "150.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immuno-osseous dysplasia' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cartilage-hair hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cartilage-hair hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cartilage-hair hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cartilage-hair hypoplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120713 Label: collagen, type III, alpha 1 - 'collagen, type III, alpha 1' SubClassOf 'gene' - 'collagen, type III, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, vascular type' - 'collagen, type III, alpha 1' SubClassOf 'Major susceptibility factor in' some 'Familial abdominal aortic aneurysm' - 'collagen, type III, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrogeria' - 'collagen, type III, alpha 1' SubClassOf 'Candidate gene tested in' some 'Familial cerebral saccular aneurysm' + 'collagen, type III, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type III, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, vascular type' + 'collagen, type III, alpha 1' SubClassOf 'Major susceptibility factor in' some 'Familial abdominal aortic aneurysm' + 'collagen, type III, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrogeria' + 'collagen, type III, alpha 1' SubClassOf 'Candidate gene tested in' some 'Familial cerebral saccular aneurysm' + 'collagen, type III, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_174 Label: Metaphyseal chondrodysplasia, Schmid type - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_prevalence' some 'Unknown' - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_173 Label: Cholera - 'Cholera' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Cholera' SubClassOf 'disease' - 'Cholera' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholera' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cholera' SubClassOf 'has_inheritance' some 'sporadic' + 'Cholera' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholera' SubClassOf 'disease' + 'Cholera' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholera' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cholera' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Cholera' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_172 Label: Progressive familial intrahepatic cholestasis - 'Progressive familial intrahepatic cholestasis' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' - 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive familial intrahepatic cholestasis' SubClassOf 'part_of' some 'Familial intrahepatic cholestasis' - 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive familial intrahepatic cholestasis' SubClassOf 'disease' - 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' + 'Progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial intrahepatic cholestasis' + 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive familial intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive familial intrahepatic cholestasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120718 Label: collagen, type IV, alpha 3 (Goodpasture antigen) - 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf 'gene' - 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Alport syndrome' - 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Alport syndrome' + 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36-q37"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Alport syndrome' + 'collagen, type IV, alpha 3 (Goodpasture antigen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171 Label: Primary sclerosing cholangitis - 'Primary sclerosing cholangitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary sclerosing cholangitis' SubClassOf 'disease' - 'Primary sclerosing cholangitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Primary sclerosing cholangitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Primary sclerosing cholangitis' SubClassOf 'part_of' some 'Rare biliary tract disease' + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf 'disease' + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Primary sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.22"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_170 Label: Woolly hair - 'Woolly hair' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woolly hair' SubClassOf 'disease' - 'Woolly hair' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Woolly hair' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Woolly hair' SubClassOf 'has_prevalence' some 'Unknown' - 'Woolly hair' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' + 'Woolly hair' SubClassOf 'disease' + 'Woolly hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woolly hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' + 'Woolly hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Woolly hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Woolly hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_120716 Label: collagen, type IV, alpha 1 - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial porencephaly' - 'collagen, type IV, alpha 1' SubClassOf 'gene' - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vascular leukoencephalopathy' - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' + 'collagen, type IV, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial porencephaly' + 'collagen, type IV, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vascular leukoencephalopathy' + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_209329 Label: cAMP responsive element binding protein 3-like 1 - 'cAMP responsive element binding protein 3-like 1' SubClassOf 'gene' - 'cAMP responsive element binding protein 3-like 1' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' - 'cAMP responsive element binding protein 3-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'cAMP responsive element binding protein 3-like 1' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' + 'cAMP responsive element binding protein 3-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cAMP responsive element binding protein 3-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q11"^^http://www.w3.org/2001/XMLSchema#string + 'cAMP responsive element binding protein 3-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' Class: http://www.orpha.net/ORDO/Orphanet_291830 Label: solute carrier organic anion transporter family, member 2A1 - 'solute carrier organic anion transporter family, member 2A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachydermoperiostosis' - 'solute carrier organic anion transporter family, member 2A1' SubClassOf 'gene' + 'solute carrier organic anion transporter family, member 2A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pachydermoperiostosis' + 'solute carrier organic anion transporter family, member 2A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier organic anion transporter family, member 2A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_33408 Label: Bullous lichen planus - 'Bullous lichen planus' SubClassOf 'disease' - 'Bullous lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Bullous lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Bullous lichen planus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bullous lichen planus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Bullous lichen planus' SubClassOf 'has_inheritance' some 'sporadic' + 'Bullous lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bullous lichen planus' SubClassOf 'disease' + 'Bullous lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Bullous lichen planus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bullous lichen planus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_120722 Label: collagen, type IV, alpha 5 - 'collagen, type IV, alpha 5' SubClassOf 'Role in the phenotype of' some 'X-linked diffuse leiomyomatosis - Alport syndrome' - 'collagen, type IV, alpha 5' SubClassOf 'gene' - 'collagen, type IV, alpha 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Alport syndrome' + 'collagen, type IV, alpha 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 5' SubClassOf 'Role in the phenotype of' some 'X-linked diffuse leiomyomatosis - Alport syndrome' + 'collagen, type IV, alpha 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_402562 Label: nuclear receptor subfamily 2, group F, member 2 - 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' - 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal' - 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'gene' + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal' + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_209325 Label: cAMP responsive element binding protein 3-like 2 - 'cAMP responsive element binding protein 3-like 2' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' - 'cAMP responsive element binding protein 3-like 2' SubClassOf 'gene' + 'cAMP responsive element binding protein 3-like 2' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' + 'cAMP responsive element binding protein 3-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'cAMP responsive element binding protein 3-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120720 Label: collagen, type IV, alpha 4 - 'collagen, type IV, alpha 4' SubClassOf 'gene' - 'collagen, type IV, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Alport syndrome' - 'collagen, type IV, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Alport syndrome' + 'collagen, type IV, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Alport syndrome' + 'collagen, type IV, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35-q37"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178481 Label: Intestinal botulism - 'Intestinal botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Intestinal botulism' SubClassOf 'has_prevalence' some 'Unknown' - 'Intestinal botulism' SubClassOf 'clinical subtype' + 'Intestinal botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Intestinal botulism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_178487 Label: Adult intestinal botulism - 'Adult intestinal botulism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult intestinal botulism' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult intestinal botulism' SubClassOf 'clinical subtype' + 'Adult intestinal botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult intestinal botulism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_297206 Label: potassium inwardly-rectifying channel, subfamily J, member 8 - 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrichotic osteochondrodysplasia, Cantu type' - 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrichotic osteochondrodysplasia, Cantu type' + 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_297209 Label: RAD51 paralog D - 'RAD51 paralog D' SubClassOf 'gene' - 'RAD51 paralog D' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 paralog D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11"^^http://www.w3.org/2001/XMLSchema#string + 'RAD51 paralog D' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 paralog D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119259 Label: CD46 molecule, complement regulatory protein - 'CD46 molecule, complement regulatory protein' SubClassOf 'gene' - 'CD46 molecule, complement regulatory protein' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' + 'CD46 molecule, complement regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD46 molecule, complement regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'CD46 molecule, complement regulatory protein' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' Class: http://www.orpha.net/ORDO/Orphanet_315311 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'clinical subtype' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'part_of' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'clinical subtype' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_167 Label: Ch�diak-Higashi syndrome - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Dense granule disease' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Ch�diak-Higashi syndrome' SubClassOf 'disease' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Ch�diak-Higashi syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Syndromic oculocutaneous albinism' - 'Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with hypopigmentation' - 'Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal-related organelles' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with hypopigmentation' + 'Ch�diak-Higashi syndrome' SubClassOf 'disease' + 'Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dense granule disease' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with peripheral neuropathy' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic oculocutaneous albinism' + 'Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_166 Label: Charcot-Marie-Tooth disease - 'Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "61.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_169 Label: Ringed hair disease - 'Ringed hair disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ringed hair disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Ringed hair disease' SubClassOf 'disease' - 'Ringed hair disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Ringed hair disease' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Ringed hair disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ringed hair disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ringed hair disease' SubClassOf 'disease' + 'Ringed hair disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' + 'Ringed hair disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ringed hair disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_236971 Label: B-cell linker - 'B-cell linker' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'B-cell linker' SubClassOf 'gene' + 'B-cell linker' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell linker' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'B-cell linker' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2-q23.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_168 Label: Loose anagen syndrome - 'Loose anagen syndrome' SubClassOf 'part_of' some 'Alopecia' - 'Loose anagen syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Loose anagen syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Loose anagen syndrome' SubClassOf 'disease' - 'Loose anagen syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Loose anagen syndrome' SubClassOf 'disease' + 'Loose anagen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Loose anagen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_163 Label: Hereditary hyperferritinemia with congenital cataracts - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'part_of' some 'Syndromic cataract' - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'disease' - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'disease' + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_162 Label: Cataract-glaucoma - 'Cataract-glaucoma' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Cataract-glaucoma' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Cataract-glaucoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract-glaucoma' SubClassOf 'malformation syndrome' - 'Cataract-glaucoma' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract-glaucoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cataract-glaucoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cataract-glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract-glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Cataract-glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract-glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract-glaucoma' SubClassOf 'malformation syndrome' + 'Cataract-glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract-glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cataract-glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_165 Label: Neutral lipid storage disease - 'Neutral lipid storage disease' SubClassOf 'group of disorders' - 'Neutral lipid storage disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neutral lipid storage disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neutral lipid storage disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Neutral lipid storage disease' SubClassOf 'group of disorders' + 'Neutral lipid storage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neutral lipid storage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neutral lipid storage disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neutral lipid storage disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120726 Label: collagen, type IV, alpha 6 - 'collagen, type IV, alpha 6' SubClassOf 'Role in the phenotype of' some 'X-linked diffuse leiomyomatosis - Alport syndrome' - 'collagen, type IV, alpha 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' - 'collagen, type IV, alpha 6' SubClassOf 'gene' + 'collagen, type IV, alpha 6' SubClassOf 'Role in the phenotype of' some 'X-linked diffuse leiomyomatosis - Alport syndrome' + 'collagen, type IV, alpha 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IV, alpha 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IV, alpha 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_331806 Label: dynamin 1-like - 'dynamin 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' - 'dynamin 1-like' SubClassOf 'gene' + 'dynamin 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynamin 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' + 'dynamin 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120728 Label: collagen, type V, alpha 1 - 'collagen, type V, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' - 'collagen, type V, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 2' - 'collagen, type V, alpha 1' SubClassOf 'gene' + 'collagen, type V, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' + 'collagen, type V, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 2' + 'collagen, type V, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.2-q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type V, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160 Label: Castleman disease - 'Castleman disease' SubClassOf 'part_of' some 'HHV-8 related disorders' - 'Castleman disease' SubClassOf 'disease' - 'Castleman disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Castleman disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Castleman disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Castleman disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Castleman disease' SubClassOf 'disease' + 'Castleman disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HHV-8 related disorders' Class: http://www.orpha.net/ORDO/Orphanet_291843 Label: cytochrome c oxidase assembly homolog 14 (S. cerevisiae) - 'cytochrome c oxidase assembly homolog 14 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'cytochrome c oxidase assembly homolog 14 (S. cerevisiae)' SubClassOf 'gene' + 'cytochrome c oxidase assembly homolog 14 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase assembly homolog 14 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly homolog 14 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_290839 Label: Autoinflammatory syndrome with immune deficiency - 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'group of disorders' + 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_290836 Label: Systemic disease with skin involvement - 'Systemic disease with skin involvement' SubClassOf 'group of disorders' + 'Systemic disease with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120730 Label: collagen, type V, alpha 2 - 'collagen, type V, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' - 'collagen, type V, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 2' - 'collagen, type V, alpha 2' SubClassOf 'gene' + 'collagen, type V, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type V, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 1' + 'collagen, type V, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome type 2' + 'collagen, type V, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14-q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178493 Label: Myopic macular degeneration - 'Myopic macular degeneration' SubClassOf 'disease' - 'Myopic macular degeneration' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' + 'Myopic macular degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Myopic macular degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_399293 Label: Osteonecrosis of the jaw - 'Osteonecrosis of the jaw' SubClassOf 'disease' - 'Osteonecrosis of the jaw' SubClassOf 'part_of' some 'Secondary avascular necrosis' + 'Osteonecrosis of the jaw' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary avascular necrosis' + 'Osteonecrosis of the jaw' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123301 Label: leucine-rich repeat kinase 2 - 'leucine-rich repeat kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'leucine-rich repeat kinase 2' SubClassOf 'gene' + 'leucine-rich repeat kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12"^^http://www.w3.org/2001/XMLSchema#string + 'leucine-rich repeat kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Young adult-onset Parkinsonism' + 'leucine-rich repeat kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120732 Label: collagen, type VI, alpha 1 - 'collagen, type VI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' - 'collagen, type VI, alpha 1' SubClassOf 'gene' - 'collagen, type VI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type VI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' + 'collagen, type VI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type VI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type VI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209335 Label: Adult-onset proximal spinal muscular atrophy, autosomal dominant - 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'disease' - 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' - 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'disease' + 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_262740 Label: Partial duplication of the short arm of chromosome 6 - 'Partial duplication of the short arm of chromosome 6' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158 Label: Systemic primary carnitine deficiency - 'Systemic primary carnitine deficiency' SubClassOf 'disease' - 'Systemic primary carnitine deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Systemic primary carnitine deficiency' SubClassOf 'part_of' some 'Disorder of carnitine cycle and carnitine transport' - 'Systemic primary carnitine deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Systemic primary carnitine deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Systemic primary carnitine deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' - 'Systemic primary carnitine deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Systemic primary carnitine deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Systemic primary carnitine deficiency' SubClassOf 'disease' + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carnitine cycle and carnitine transport' + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic primary carnitine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Systemic primary carnitine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410063) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "77.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic primary carnitine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410063) and (http://www.orpha.net/ORDO/Orphanet_C032 value "138.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_159040 Label: transforming growth factor, alpha - 'transforming growth factor, alpha' SubClassOf 'gene' - 'transforming growth factor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'transforming growth factor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming growth factor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' Class: http://www.orpha.net/ORDO/Orphanet_157 Label: Carnitine palmitoyltransferase II deficiency - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'disease' - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'part_of' some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'disease' + 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Carnitine palmitoyltransferase II deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Carnitine palmitoyltransferase II deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine palmitoyltransferase II deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_156 Label: Carnitine palmitoyl transferase 1A deficiency - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'part_of' some 'Disorder of carnitine cycle and carnitine transport' - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disease' - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119289 Label: cyclin-dependent kinase 4 - 'cyclin-dependent kinase 4' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' - 'cyclin-dependent kinase 4' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' - 'cyclin-dependent kinase 4' SubClassOf 'gene' - 'cyclin-dependent kinase 4' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' + 'cyclin-dependent kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase 4' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'cyclin-dependent kinase 4' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' + 'cyclin-dependent kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase 4' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_262749 Label: Partial duplication of the short arm of chromosome 7 - 'Partial duplication of the short arm of chromosome 7' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159 Label: Carnitine-acylcarnitine translocase deficiency - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disease' - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'part_of' some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disease' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_150 Label: Nasopharyngeal carcinoma - 'Nasopharyngeal carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nasopharyngeal carcinoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated carcinoma' - 'Nasopharyngeal carcinoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Nasopharyngeal carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Nasopharyngeal carcinoma' SubClassOf 'disease' - 'Nasopharyngeal carcinoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Nasopharyngeal carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Nasopharyngeal carcinoma' SubClassOf 'part_of' some 'Rare respiratory tumor' + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory tumor' + 'Nasopharyngeal carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Nasopharyngeal carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nasopharyngeal carcinoma' SubClassOf 'disease' + 'Nasopharyngeal carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated carcinoma' + 'Nasopharyngeal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120738 Label: collagen, type VII, alpha 1 - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acral dystrophic epidermolysis bullosa' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex superficialis' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient bullous dermolysis of the newborn' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystrophic epidermolysis bullosa, nails only' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystrophic epidermolysis bullosa pruriginosa' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive dystrophic epidermolysis bullosa inversa' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe generalized recessive dystrophic epidermolysis bullosa' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Centripetalis recessive dystrophic epidermolysis bullosa' - 'collagen, type VII, alpha 1' SubClassOf 'gene' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pretibial dystrophic epidermolysis bullosa' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive dystrophic epidermolysis bullosa-generalized other' - 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized dominant dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dystrophic epidermolysis bullosa pruriginosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dystrophic epidermolysis bullosa, nails only' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Transient bullous dermolysis of the newborn' + 'collagen, type VII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex superficialis' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Generalized dominant dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe generalized recessive dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Recessive dystrophic epidermolysis bullosa-generalized other' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pretibial dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Recessive dystrophic epidermolysis bullosa inversa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Centripetalis recessive dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acral dystrophic epidermolysis bullosa' + 'collagen, type VII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_292990 Label: transmembrane protein 138 - 'transmembrane protein 138' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'transmembrane protein 138' SubClassOf 'gene' + 'transmembrane protein 138' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 138' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 138' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_154 Label: Familial isolated dilated cardiomyopathy - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'disease' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'part_of' some 'Familial dilated cardiomyopathy' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Familial isolated dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "36.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial isolated dilated cardiomyopathy' SubClassOf 'disease' + 'Familial isolated dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial isolated dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial isolated dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial dilated cardiomyopathy' + 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Familial isolated dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial isolated dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.91"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120736 Label: collagen, type VI, alpha 3 - 'collagen, type VI, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' - 'collagen, type VI, alpha 3' SubClassOf 'gene' - 'collagen, type VI, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type VI, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' + 'collagen, type VI, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type VI, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type VI, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' Class: http://www.orpha.net/ORDO/Orphanet_209341 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'part_of' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'clinical subtype' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_292992 Label: centrosomal protein 41kDa - 'centrosomal protein 41kDa' SubClassOf 'gene' - 'centrosomal protein 41kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'centrosomal protein 41kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'centrosomal protein 41kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome with ocular defect' + 'centrosomal protein 41kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 41kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 41kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_151 Label: Familial renal cell carcinoma - 'Familial renal cell carcinoma' SubClassOf 'Rare renal tumor' - 'Familial renal cell carcinoma' SubClassOf 'Genetic renal tumor' - 'Familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial renal cell carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Familial renal cell carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120734 Label: collagen, type VI, alpha 2 - 'collagen, type VI, alpha 2' SubClassOf 'gene' - 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myosclerosis' - 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' - 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' + 'collagen, type VI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myosclerosis' + 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type VI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type VI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' Class: http://www.orpha.net/ORDO/Orphanet_290849 Label: Rare head and neck tumor - 'Rare head and neck tumor' SubClassOf 'group of disorders' + 'Rare head and neck tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120743 Label: collagen, type VIII, alpha 2 - 'collagen, type VIII, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' - 'collagen, type VIII, alpha 2' SubClassOf 'gene' - 'collagen, type VIII, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' + 'collagen, type VIII, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type VIII, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' + 'collagen, type VIII, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2-p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type VIII, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_291853 Label: GATA binding protein 6 - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' - 'GATA binding protein 6' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic hypoplasia - diabetes - congenital heart disease' - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'GATA binding protein 6' SubClassOf 'gene' - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' + 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'GATA binding protein 6' SubClassOf 'Major susceptibility factor in' some 'Congenital diaphragmatic hernia' + 'GATA binding protein 6' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'GATA binding protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'GATA binding protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'GATA binding protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Partial atrioventricular canal' + 'GATA binding protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pancreatic hypoplasia - diabetes - congenital heart disease' + 'GATA binding protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291856 Label: deoxyribonuclease I-like 3 - 'deoxyribonuclease I-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive systemic lupus erythematosus' - 'deoxyribonuclease I-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocomplementemic urticarial vasculitis' - 'deoxyribonuclease I-like 3' SubClassOf 'gene' + 'deoxyribonuclease I-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deoxyribonuclease I-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'deoxyribonuclease I-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive systemic lupus erythematosus' + 'deoxyribonuclease I-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypocomplementemic urticarial vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_166892 Label: growth differentiation factor 1 - 'growth differentiation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ivemark syndrome' - 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' - 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'growth differentiation factor 1' SubClassOf 'gene' - 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' + 'growth differentiation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ivemark syndrome' + 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' + 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'growth differentiation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_96201 Label: X small rings - 'X small rings' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'X small rings' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'X small rings' SubClassOf 'malformation syndrome' - 'X small rings' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'X small rings' SubClassOf 'part_of' some 'Chromosome X structural anomaly' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'X small rings' SubClassOf 'malformation syndrome' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosome X structural anomaly' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_159048 Label: tumor necrosis factor (ligand) superfamily, member 11 - 'tumor necrosis factor (ligand) superfamily, member 11' SubClassOf 'gene' - 'tumor necrosis factor (ligand) superfamily, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'tumor necrosis factor (ligand) superfamily, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor (ligand) superfamily, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor necrosis factor (ligand) superfamily, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_119281 Label: cadherin-related 23 - 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'cadherin-related 23' SubClassOf 'gene' - 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'cadherin-related 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'cadherin-related 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'cadherin-related 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_404800 Label: ATP-binding cassette, sub-family A (ABC1), member 5 - 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gingival fibromatosis-hypertrichosis syndrome' - 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf 'gene' + 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Gingival fibromatosis-hypertrichosis syndrome' + 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159042 Label: thymopoietin - 'thymopoietin' SubClassOf 'gene' - 'thymopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'thymopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'thymopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thymopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119285 Label: cadherin 3, type 1, P-cadherin (placental) - 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf 'gene' - 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf 'Disease-causing germline mutation(s) in' some 'EEM syndrome' - 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis with juvenile macular degeneration' + 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf 'Disease-causing germline mutation(s) in' some 'EEM syndrome' + 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'cadherin 3, type 1, P-cadherin (placental)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis with juvenile macular degeneration' Class: http://www.orpha.net/ORDO/Orphanet_290842 Label: Autoinflammatory syndrome with skin involvement - 'Autoinflammatory syndrome with skin involvement' SubClassOf 'group of disorders' + 'Autoinflammatory syndrome with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_145 Label: Hereditary breast and ovarian cancer syndrome - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'part_of' some 'Familial ovarian cancer' - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary breast and ovarian cancer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial ovarian cancer' Class: http://www.orpha.net/ORDO/Orphanet_262758 Label: Partial duplication of the short arm of chromosome 8 - 'Partial duplication of the short arm of chromosome 8' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_144 Label: Hereditary nonpolyposis colon cancer - 'Hereditary nonpolyposis colon cancer' SubClassOf 'group of disorders' - 'Hereditary nonpolyposis colon cancer' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary nonpolyposis colon cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary nonpolyposis colon cancer' SubClassOf 'has_prevalence' some 'Unknown' + 'Hereditary nonpolyposis colon cancer' SubClassOf 'group of disorders' + 'Hereditary nonpolyposis colon cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary nonpolyposis colon cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_147 Label: Carbamoyl-phosphate synthase deficiency - 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'disease' - 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carbamoyl-phosphate synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Carbamoyl-phosphate synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.125"^^http://www.w3.org/2001/XMLSchema#string) + 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'disease' + 'Carbamoyl-phosphate synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Carbamoyl-phosphate synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Carbamoyl-phosphate synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.077"^^http://www.w3.org/2001/XMLSchema#string) + 'Carbamoyl-phosphate synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_146 Label: Papillary or follicular thyroid carcinoma - 'Papillary or follicular thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Papillary or follicular thyroid carcinoma' SubClassOf 'disease' - 'Papillary or follicular thyroid carcinoma' SubClassOf 'part_of' some 'Thyroid carcinoma' - 'Papillary or follicular thyroid carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Papillary or follicular thyroid carcinoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Papillary or follicular thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' + 'Papillary or follicular thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Papillary or follicular thyroid carcinoma' SubClassOf 'disease' + 'Papillary or follicular thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Papillary or follicular thyroid carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Papillary or follicular thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_148 Label: Multiple carboxylase deficiency - 'Multiple carboxylase deficiency' SubClassOf 'group of disorders' - 'Multiple carboxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple carboxylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Multiple carboxylase deficiency' SubClassOf 'group of disorders' + 'Multiple carboxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_308604 Label: Glycogen storage disease due to acid maltase deficiency, adult onset - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'part_of' some 'Glycogen storage disease due to acid maltase deficiency' + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to acid maltase deficiency' + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_402570 Label: interferon induced with helicase C domain 1 - 'interferon induced with helicase C domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'interferon induced with helicase C domain 1' SubClassOf 'gene' + 'interferon induced with helicase C domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'interferon induced with helicase C domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Aicardi-Gouti�res syndrome' + 'interferon induced with helicase C domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141 Label: Canavan disease - 'Canavan disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Canavan disease' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Canavan disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Canavan disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Canavan disease' SubClassOf 'disease' - 'Canavan disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Canavan disease' SubClassOf 'part_of' some 'Aminoacylase deficiency' - 'Canavan disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Canavan disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Canavan disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Canavan disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Canavan disease' SubClassOf 'disease' + 'Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Canavan disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aminoacylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_33445 Label: Neuroectodermal melanolysosomal disease - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'malformation syndrome' - 'Neuroectodermal melanolysosomal disease' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' + 'Neuroectodermal melanolysosomal disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neuroectodermal melanolysosomal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Neuroectodermal melanolysosomal disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_140 Label: Campomelic dysplasia - 'Campomelic dysplasia' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Campomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Campomelic dysplasia' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Campomelic dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Campomelic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Campomelic dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Campomelic dysplasia' SubClassOf 'malformation syndrome' - 'Campomelic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Campomelic dysplasia' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' + 'Campomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Campomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Campomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Campomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Campomelic dysplasia' SubClassOf 'malformation syndrome' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Campomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_143 Label: Parathyroid carcinoma - 'Parathyroid carcinoma' SubClassOf 'disease' - 'Parathyroid carcinoma' SubClassOf 'part_of' some 'Rare hyperparathyroidism' - 'Parathyroid carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Parathyroid carcinoma' SubClassOf 'part_of' some 'Rare parathyroid tumor' + 'Parathyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperparathyroidism' + 'Parathyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Parathyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Parathyroid carcinoma' SubClassOf 'disease' + 'Parathyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid tumor' + 'Parathyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120748 Label: collagen, type IX, alpha 1 - 'collagen, type IX, alpha 1' SubClassOf 'gene' - 'collagen, type IX, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'collagen, type IX, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' + 'collagen, type IX, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IX, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IX, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' + 'collagen, type IX, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' Class: http://www.orpha.net/ORDO/Orphanet_142 Label: Anaplastic thyroid carcinoma - 'Anaplastic thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Anaplastic thyroid carcinoma' SubClassOf 'disease' - 'Anaplastic thyroid carcinoma' SubClassOf 'part_of' some 'Thyroid carcinoma' - 'Anaplastic thyroid carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Anaplastic thyroid carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Anaplastic thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic thyroid carcinoma' SubClassOf 'disease' + 'Anaplastic thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Anaplastic thyroid carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anaplastic thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Anaplastic thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_120754 Label: collagen, type IX, alpha 3 - 'collagen, type IX, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'collagen, type IX, alpha 3' SubClassOf 'gene' - 'collagen, type IX, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' + 'collagen, type IX, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IX, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IX, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' + 'collagen, type IX, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120750 Label: collagen, type IX, alpha 2 - 'collagen, type IX, alpha 2' SubClassOf 'gene' - 'collagen, type IX, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'collagen, type IX, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' + 'collagen, type IX, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive Stickler syndrome' + 'collagen, type IX, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p33-p32"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type IX, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type IX, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' Class: http://www.orpha.net/ORDO/Orphanet_119271 Label: cell division cycle 73 - 'cell division cycle 73' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Parathyroid carcinoma' - 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parathyroid carcinoma' - 'cell division cycle 73' SubClassOf 'gene' - 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' - 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' - 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperparathyroidism-jaw tumor syndrome' + 'cell division cycle 73' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hyperparathyroidism-jaw tumor syndrome' + 'cell division cycle 73' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Parathyroid carcinoma' + 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parathyroid carcinoma' + 'cell division cycle 73' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' + 'cell division cycle 73' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25"^^http://www.w3.org/2001/XMLSchema#string + 'cell division cycle 73' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' Class: http://www.orpha.net/ORDO/Orphanet_299456 Label: ADAM metallopeptidase domain 17 - 'ADAM metallopeptidase domain 17' SubClassOf 'gene' - 'ADAM metallopeptidase domain 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal inflammatory skin and bowel disease' + 'ADAM metallopeptidase domain 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase domain 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase domain 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal inflammatory skin and bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_96210 Label: Rare genetic deafness - 'Rare genetic deafness' SubClassOf 'group of disorders' + 'Rare genetic deafness' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119276 Label: cadherin 1, type 1, E-cadherin (epithelial) - 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf 'Major susceptibility factor in' some 'Gastric linitis plastica' - 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf 'gene' - 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf 'Major susceptibility factor in' some 'Gastric linitis plastica' + 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'cadherin 1, type 1, E-cadherin (epithelial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289483 Label: Intellectual disability - alacrima - achalasia - 'Intellectual disability - alacrima - achalasia' SubClassOf 'disease' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'part_of' some 'Congenital alacrima' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Intellectual disability - alacrima - achalasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - alacrima - achalasia' SubClassOf 'disease' + 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - alacrima - achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - alacrima - achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - alacrima - achalasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Intellectual disability - alacrima - achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital alacrima' Class: http://www.orpha.net/ORDO/Orphanet_168069 Label: DnaJ (Hsp40) homolog, subfamily C, member 19 - 'DnaJ (Hsp40) homolog, subfamily C, member 19' SubClassOf 'gene' - 'DnaJ (Hsp40) homolog, subfamily C, member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy with ataxia' + 'DnaJ (Hsp40) homolog, subfamily C, member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.33"^^http://www.w3.org/2001/XMLSchema#string + 'DnaJ (Hsp40) homolog, subfamily C, member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy with ataxia' + 'DnaJ (Hsp40) homolog, subfamily C, member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98078 Label: 46,XX disorder of sex development induced by androgens excess - '46,XX disorder of sex development induced by androgens excess' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by androgens excess' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376959 Label: TBC1 domain family, member 20 - 'TBC1 domain family, member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' - 'TBC1 domain family, member 20' SubClassOf 'gene' + 'TBC1 domain family, member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'TBC1 domain family, member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TBC1 domain family, member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122634 Label: interleukin 12 receptor, beta 1 - 'interleukin 12 receptor, beta 1' SubClassOf 'gene' - 'interleukin 12 receptor, beta 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' - 'interleukin 12 receptor, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' + 'interleukin 12 receptor, beta 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'interleukin 12 receptor, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 12 receptor, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' + 'interleukin 12 receptor, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98074 Label: Gonadal dysgenesis of gynecological interest - 'Gonadal dysgenesis of gynecological interest' SubClassOf 'group of disorders' + 'Gonadal dysgenesis of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_208329 Label: solute carrier family 27 (fatty acid transporter), member 4 - 'solute carrier family 27 (fatty acid transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis prematurity syndrome' - 'solute carrier family 27 (fatty acid transporter), member 4' SubClassOf 'gene' + 'solute carrier family 27 (fatty acid transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 27 (fatty acid transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis prematurity syndrome' + 'solute carrier family 27 (fatty acid transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289488 Label: leprecan-like 1 - 'leprecan-like 1' SubClassOf 'gene' - 'leprecan-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rare isolated myopia' + 'leprecan-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leprecan-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'leprecan-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rare isolated myopia' Class: http://www.orpha.net/ORDO/Orphanet_36236 Label: Staphylococcal scalded skin syndrome - 'Staphylococcal scalded skin syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Staphylococcal scalded skin syndrome' SubClassOf 'disease' - 'Staphylococcal scalded skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Staphylococcal scalded skin syndrome' SubClassOf 'part_of' some 'Staphylococcal toxemia' + 'Staphylococcal scalded skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Staphylococcal scalded skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Staphylococcal toxemia' + 'Staphylococcal scalded skin syndrome' SubClassOf 'disease' + 'Staphylococcal scalded skin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_308400 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'etiological subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_285 Label: Ehlers-Danlos syndrome, hypermobility type - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_36235 Label: Staphylococcal scarlet fever - 'Staphylococcal scarlet fever' SubClassOf 'disease' - 'Staphylococcal scarlet fever' SubClassOf 'part_of' some 'Staphylococcal toxemia' + 'Staphylococcal scarlet fever' SubClassOf 'disease' + 'Staphylococcal scarlet fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Staphylococcal toxemia' Class: http://www.orpha.net/ORDO/Orphanet_286 Label: Ehlers-Danlos syndrome, vascular type - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'part_of' some 'Rare vascular disease' + 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, vascular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, vascular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Ehlers-Danlos syndrome, vascular type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_36238 Label: Staphylococcal necrotizing pneumonia - 'Staphylococcal necrotizing pneumonia' SubClassOf 'disease' - 'Staphylococcal necrotizing pneumonia' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Staphylococcal necrotizing pneumonia' SubClassOf 'has_prevalence' some 'Unknown' - 'Staphylococcal necrotizing pneumonia' SubClassOf 'part_of' some 'Staphylococcal toxemia' - 'Staphylococcal necrotizing pneumonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Staphylococcal necrotizing pneumonia' SubClassOf 'disease' + 'Staphylococcal necrotizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Staphylococcal necrotizing pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Staphylococcal necrotizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Staphylococcal toxemia' Class: http://www.orpha.net/ORDO/Orphanet_314689 Label: Combined immunodeficiency due to STK4 deficiency - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_283 Label: Demodicidosis - 'Demodicidosis' SubClassOf 'disease' - 'Demodicidosis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Demodicidosis' SubClassOf 'disease' + 'Demodicidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_36237 Label: Bullous impetigo - 'Bullous impetigo' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Bullous impetigo' SubClassOf 'part_of' some 'Staphylococcal toxemia' - 'Bullous impetigo' SubClassOf 'disease' - 'Bullous impetigo' SubClassOf 'has_inheritance' some 'sporadic' - 'Bullous impetigo' SubClassOf 'has_prevalence' some 'Unknown' - 'Bullous impetigo' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Bullous impetigo' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bullous impetigo' SubClassOf 'disease' + 'Bullous impetigo' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bullous impetigo' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Staphylococcal toxemia' + 'Bullous impetigo' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_284 Label: Alveolar echinococcosis - 'Alveolar echinococcosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Alveolar echinococcosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Alveolar echinococcosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Alveolar echinococcosis' SubClassOf 'disease' + 'Alveolar echinococcosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Alveolar echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.014"^^http://www.w3.org/2001/XMLSchema#string) + 'Alveolar echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Alveolar echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Alveolar echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.026"^^http://www.w3.org/2001/XMLSchema#string) + 'Alveolar echinococcosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alveolar echinococcosis' SubClassOf 'disease' + 'Alveolar echinococcosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Alveolar echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_281 Label: Monosomy 5p - 'Monosomy 5p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 5p' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Monosomy 5p' SubClassOf 'malformation syndrome' - 'Monosomy 5p' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Monosomy 5p' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Monosomy 5p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 5p' SubClassOf 'has_inheritance' some 'sporadic' - 'Monosomy 5p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 5' + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 5' + 'Monosomy 5p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Monosomy 5p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Monosomy 5p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 5p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 5p' SubClassOf 'malformation syndrome' + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Monosomy 5p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 5p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_33543 Label: Kleine-Levin syndrome - 'Kleine-Levin syndrome' SubClassOf 'part_of' some 'Sleep disorder' - 'Kleine-Levin syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Kleine-Levin syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Kleine-Levin syndrome' SubClassOf 'disease' + 'Kleine-Levin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kleine-Levin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Kleine-Levin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kleine-Levin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Kleine-Levin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Kleine-Levin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Kleine-Levin syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_282 Label: Frontotemporal dementia - 'Frontotemporal dementia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Frontotemporal dementia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Frontotemporal dementia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Frontotemporal dementia' SubClassOf 'group of disorders' + 'Frontotemporal dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Frontotemporal dementia' SubClassOf 'group of disorders' + 'Frontotemporal dementia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Frontotemporal dementia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_376965 Label: family with sequence similarity 111, member B - 'family with sequence similarity 111, member B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' - 'family with sequence similarity 111, member B' SubClassOf 'gene' + 'family with sequence similarity 111, member B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' + 'family with sequence similarity 111, member B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'family with sequence similarity 111, member B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_308407 Label: Disorder of beta and omega amino acid metabolism - 'Disorder of beta and omega amino acid metabolism' SubClassOf 'group of disorders' + 'Disorder of beta and omega amino acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280 Label: Wolf-Hirschhorn syndrome - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Wolf-Hirschhorn syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wolf-Hirschhorn syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 4' - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Wolf-Hirschhorn syndrome' SubClassOf 'malformation syndrome' - 'Wolf-Hirschhorn syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Wolf-Hirschhorn syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Wolf-Hirschhorn syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Wolf-Hirschhorn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wolf-Hirschhorn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Wolf-Hirschhorn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Wolf-Hirschhorn syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Wolf-Hirschhorn syndrome' SubClassOf 'malformation syndrome' + 'Wolf-Hirschhorn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 4' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_122629 Label: interleukin 12B - 'interleukin 12B' SubClassOf 'gene' - 'interleukin 12B' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' - 'interleukin 12B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' + 'interleukin 12B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1-q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 12B' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' + 'interleukin 12B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 12B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' Class: http://www.orpha.net/ORDO/Orphanet_314684 Label: Primary bone lymphoma - 'Primary bone lymphoma' SubClassOf 'disease' - 'Primary bone lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary bone lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary bone lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary bone lymphoma' SubClassOf 'disease' + 'Primary bone lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary bone lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_247573 Label: Adult-onset citrullinemia type I - 'Adult-onset citrullinemia type I' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset citrullinemia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult-onset citrullinemia type I' SubClassOf 'part_of' some 'Citrullinemia type I' - 'Adult-onset citrullinemia type I' SubClassOf 'clinical subtype' + 'Adult-onset citrullinemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset citrullinemia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult-onset citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Citrullinemia type I' + 'Adult-onset citrullinemia type I' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_289 Label: Ellis Van Creveld syndrome - 'Ellis Van Creveld syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Ellis Van Creveld syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ellis Van Creveld syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ellis Van Creveld syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ellis Van Creveld syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Ellis Van Creveld syndrome' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Ellis Van Creveld syndrome' SubClassOf 'malformation syndrome' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Ellis Van Creveld syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Ellis Van Creveld syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ellis Van Creveld syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "500.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ellis Van Creveld syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ellis Van Creveld syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ellis Van Creveld syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ellis Van Creveld syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_36234 Label: Bacterial toxic-shock syndrome - 'Bacterial toxic-shock syndrome' SubClassOf 'disease' - 'Bacterial toxic-shock syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bacterial toxic-shock syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Bacterial toxic-shock syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Bacterial toxic-shock syndrome' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Bacterial toxic-shock syndrome' SubClassOf 'disease' + 'Bacterial toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Bacterial toxic-shock syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Bacterial toxic-shock syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bacterial toxic-shock syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_358705 Label: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 - 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10' SubClassOf 'gene' + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_287 Label: Ehlers-Danlos syndrome, classic type - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Ehlers-Danlos syndrome, classic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, classic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, classic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_288 Label: Hereditary elliptocytosis - 'Hereditary elliptocytosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hereditary elliptocytosis' SubClassOf 'group of disorders' - 'Hereditary elliptocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary elliptocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary elliptocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary elliptocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "62.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary elliptocytosis' SubClassOf 'group of disorders' + 'Hereditary elliptocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary elliptocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_358708 Label: heterogeneous nuclear ribonucleoprotein H1 (H) - 'heterogeneous nuclear ribonucleoprotein H1 (H)' SubClassOf 'gene' - 'heterogeneous nuclear ribonucleoprotein H1 (H)' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'heterogeneous nuclear ribonucleoprotein H1 (H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heterogeneous nuclear ribonucleoprotein H1 (H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein H1 (H)' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_168077 Label: hydroxyprostaglandin dehydrogenase 15-(NAD) - 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital digital clubbing' - 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachydermoperiostosis' - 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'gene' - 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranio-osteoarthropathy' + 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital digital clubbing' + 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachydermoperiostosis' + 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranio-osteoarthropathy' + 'hydroxyprostaglandin dehydrogenase 15-(NAD)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289494 Label: Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism - 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'group of disorders' + 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168079 Label: solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 - 'solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schneckenbecken dysplasia' - 'solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1' SubClassOf 'gene' + 'solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32-p31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Schneckenbecken dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_168073 Label: granulin - 'granulin' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'granulin' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' - 'granulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN11 disease' - 'granulin' SubClassOf 'gene' - 'granulin' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'granulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'granulin' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'granulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'granulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN11 disease' + 'granulin' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'granulin' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' Class: http://www.orpha.net/ORDO/Orphanet_260583 Label: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase - 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' - 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_376969 Label: endothelin 1 - 'endothelin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' - 'endothelin 1' SubClassOf 'gene' + 'endothelin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' + 'endothelin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289499 Label: Congenital cataract microcornea with corneal opacity - 'Congenital cataract microcornea with corneal opacity' SubClassOf 'part_of' some 'Syndromic cataract' - 'Congenital cataract microcornea with corneal opacity' SubClassOf 'malformation syndrome' - 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract microcornea with corneal opacity' SubClassOf 'malformation syndrome' + 'Congenital cataract microcornea with corneal opacity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Congenital cataract microcornea with corneal opacity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122623 Label: interleukin 10 - 'interleukin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' - 'interleukin 10' SubClassOf 'gene' - 'interleukin 10' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 10' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive early-onset inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_98062 Label: Rare nervous system tumor - 'Rare nervous system tumor' SubClassOf 'group of disorders' + 'Rare nervous system tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98063 Label: Rare gynecological tumor - 'Rare gynecological tumor' SubClassOf 'group of disorders' + 'Rare gynecological tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_308410 Label: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'disease' - 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of branched-chain amino acid metabolism' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'disease' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98060 Label: Rare respiratory tumor - 'Rare respiratory tumor' SubClassOf 'group of disorders' + 'Rare respiratory tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98061 Label: Rare otorhinolaryngologic tumor - 'Rare otorhinolaryngologic tumor' SubClassOf 'group of disorders' + 'Rare otorhinolaryngologic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70482 Label: Esophageal carcinoma - 'Esophageal carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Esophageal carcinoma' SubClassOf 'part_of' some 'Gastro-esophageal tumor' - 'Esophageal carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Esophageal carcinoma' SubClassOf 'disease' + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "12.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastro-esophageal tumor' + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_63259 Label: Iniencephaly - 'Iniencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Iniencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Iniencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Iniencephaly' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Iniencephaly' SubClassOf 'morphological anomaly' - 'Iniencephaly' SubClassOf 'part_of' some 'Neural tube closure defect' + 'Iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Iniencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neural tube closure defect' + 'Iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Iniencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Iniencephaly' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_294 Label: Fetal cytomegalovirus syndrome - 'Fetal cytomegalovirus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal cytomegalovirus syndrome' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Fetal cytomegalovirus syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Fetal cytomegalovirus syndrome' SubClassOf 'disease' - 'Fetal cytomegalovirus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal cytomegalovirus syndrome' SubClassOf 'part_of' some 'Infectious embryofetopathy' + 'Fetal cytomegalovirus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal cytomegalovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Fetal cytomegalovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Fetal cytomegalovirus syndrome' SubClassOf 'disease' + 'Fetal cytomegalovirus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal cytomegalovirus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal cytomegalovirus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_295 Label: Fetal parvovirus syndrome - 'Fetal parvovirus syndrome' SubClassOf 'malformation syndrome' - 'Fetal parvovirus syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal parvovirus syndrome' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Fetal parvovirus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal parvovirus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal parvovirus syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Fetal parvovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Fetal parvovirus syndrome' SubClassOf 'malformation syndrome' + 'Fetal parvovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal parvovirus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal parvovirus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_70476 Label: Vernal keratoconjunctivitis - 'Vernal keratoconjunctivitis' SubClassOf 'disease' - 'Vernal keratoconjunctivitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Vernal keratoconjunctivitis' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'Vernal keratoconjunctivitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Vernal keratoconjunctivitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' - 'Vernal keratoconjunctivitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Vernal keratoconjunctivitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf 'disease' + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "49.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "32.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' + 'Vernal keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' + 'Vernal keratoconjunctivitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "151.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Vernal keratoconjunctivitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_296 Label: Enchondromatosis - 'Enchondromatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Enchondromatosis' SubClassOf 'disease' - 'Enchondromatosis' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Enchondromatosis' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Enchondromatosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Enchondromatosis' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Enchondromatosis' SubClassOf 'part_of' some 'Rare bone tumor' - 'Enchondromatosis' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Enchondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Enchondromatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Enchondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Enchondromatosis' SubClassOf 'disease' + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Enchondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Enchondromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_70475 Label: Radiation proctitis - 'Radiation proctitis' SubClassOf 'disease' - 'Radiation proctitis' SubClassOf 'part_of' some 'Rare intestinal disease' - 'Radiation proctitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Radiation proctitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Radiation proctitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Radiation proctitis' SubClassOf 'disease' + 'Radiation proctitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Radiation proctitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Radiation proctitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Radiation proctitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_297 Label: Tick-borne encephalitis - 'Tick-borne encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Tick-borne encephalitis' SubClassOf 'disease' - 'Tick-borne encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tick-borne encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Tick-borne encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Tick-borne encephalitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Tick-borne encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tick-borne encephalitis' SubClassOf 'disease' + 'Tick-borne encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tick-borne encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Tick-borne encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_44890 Label: Gastrointestinal stromal tumor - 'Gastrointestinal stromal tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Gastrointestinal stromal tumor' SubClassOf 'disease' - 'Gastrointestinal stromal tumor' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Gastrointestinal stromal tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gastrointestinal stromal tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Gastrointestinal stromal tumor' SubClassOf 'part_of' some 'Genetic digestive tract tumor' + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf 'disease' + 'Gastrointestinal stromal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' + 'Gastrointestinal stromal tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gastrointestinal stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastrointestinal stromal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410090) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410090) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.82"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastrointestinal stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_290 Label: Congenital rubella syndrome - 'Congenital rubella syndrome' SubClassOf 'disease' - 'Congenital rubella syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital rubella syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital rubella syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital rubella syndrome' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Congenital rubella syndrome' SubClassOf 'part_of' some 'Infectious disease with epilepsy' + 'Congenital rubella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Congenital rubella syndrome' SubClassOf 'disease' + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Congenital rubella syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital rubella syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital rubella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_291 Label: Fetal varicella syndrome - 'Fetal varicella syndrome' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Fetal varicella syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal varicella syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal varicella syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal varicella syndrome' SubClassOf 'disease' + 'Fetal varicella syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal varicella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Fetal varicella syndrome' SubClassOf 'disease' + 'Fetal varicella syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_292 Label: Congenital enterovirus infection - 'Congenital enterovirus infection' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Congenital enterovirus infection' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital enterovirus infection' SubClassOf 'disease' - 'Congenital enterovirus infection' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital enterovirus infection' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital enterovirus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital enterovirus infection' SubClassOf 'disease' + 'Congenital enterovirus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Congenital enterovirus infection' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_376977 Label: kelch-like family member 41 - 'kelch-like family member 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' - 'kelch-like family member 41' SubClassOf 'gene' - 'kelch-like family member 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' - 'kelch-like family member 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' - 'kelch-like family member 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Childhood-onset nemaline myopathy' + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe congenital nemaline myopathy' + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Typical nemaline myopathy' + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermediate nemaline myopathy' + 'kelch-like family member 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293 Label: Congenital herpes virus infection - 'Congenital herpes virus infection' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital herpes virus infection' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Congenital herpes virus infection' SubClassOf 'disease' - 'Congenital herpes virus infection' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital herpes virus infection' SubClassOf 'part_of' some 'Rare viral disease' - 'Congenital herpes virus infection' SubClassOf 'has_inheritance' some 'sporadic' + 'Congenital herpes virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Congenital herpes virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital herpes virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital herpes virus infection' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital herpes virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Congenital herpes virus infection' SubClassOf 'disease' + 'Congenital herpes virus infection' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital herpes virus infection' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_216445 Label: Prelingual non-syndromic genetic deafness - 'Prelingual non-syndromic genetic deafness' SubClassOf 'disease' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'part_of' some 'Non-syndromic genetic deafness' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_prevalence' some 'Unknown' + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Prelingual non-syndromic genetic deafness' SubClassOf 'disease' + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Prelingual non-syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic genetic deafness' + 'Prelingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_63261 Label: HERNS syndrome - 'HERNS syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'HERNS syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'HERNS syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'HERNS syndrome' SubClassOf 'part_of' some 'Retinal vasculopathy and cerebral leukodystrophy' - 'HERNS syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'HERNS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'HERNS syndrome' SubClassOf 'malformation syndrome' + 'HERNS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal vasculopathy and cerebral leukodystrophy' + 'HERNS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HERNS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'HERNS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'HERNS syndrome' SubClassOf 'malformation syndrome' + 'HERNS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_63260 Label: Craniorachischisis - 'Craniorachischisis' SubClassOf 'part_of' some 'Neural tube closure defect' - 'Craniorachischisis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Craniorachischisis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniorachischisis' SubClassOf 'morphological anomaly' - 'Craniorachischisis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Craniorachischisis' SubClassOf 'has_inheritance' some 'sporadic' + 'Craniorachischisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniorachischisis' SubClassOf 'morphological anomaly' + 'Craniorachischisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neural tube closure defect' + 'Craniorachischisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniorachischisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Craniorachischisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_35173 Label: X-linked dominant chondrodysplasia punctata - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'disease' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'X-linked ichthyosis syndrome' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-rhizomelic chondrodysplasia punctata' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked ichthyosis syndrome' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'X-linked dominant chondrodysplasia punctata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked dominant chondrodysplasia punctata' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia punctata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_358713 Label: DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked - 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked' SubClassOf 'gene' - 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3-p11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_298 Label: Mitochondrial neurogastrointestinal encephalomyopathy - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Ptosis' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'disease' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Metabolic disease with intestinal involvement' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'disease' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with intestinal involvement' Class: http://www.orpha.net/ORDO/Orphanet_353445 Label: glypican 1 - 'glypican 1' SubClassOf 'gene' - 'glypican 1' SubClassOf 'Major susceptibility factor in' some 'Biliary atresia' + 'glypican 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35-q37"^^http://www.w3.org/2001/XMLSchema#string + 'glypican 1' SubClassOf 'Major susceptibility factor in' some 'Biliary atresia' + 'glypican 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_314697 Label: Acquired porencephaly - 'Acquired porencephaly' SubClassOf 'etiological subtype' - 'Acquired porencephaly' SubClassOf 'part_of' some 'Porencephaly' + 'Acquired porencephaly' SubClassOf 'etiological subtype' + 'Acquired porencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porencephaly' Class: http://www.orpha.net/ORDO/Orphanet_98099 Label: Autosomal recessive syndromic cerebellar ataxia - 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276399 Label: Familial multinodular goiter - 'Familial multinodular goiter' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Familial multinodular goiter' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial multinodular goiter' SubClassOf 'part_of' some 'Rare genetic thyroid disease' - 'Familial multinodular goiter' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Familial multinodular goiter' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial multinodular goiter' SubClassOf 'part_of' some 'Rare thyroid disease' - 'Familial multinodular goiter' SubClassOf 'disease' + 'Familial multinodular goiter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thyroid disease' + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic thyroid disease' + 'Familial multinodular goiter' SubClassOf 'disease' + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Familial multinodular goiter' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_263676 Label: Hereditary epidermolysis bullosa associated with ocular features - 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'group of disorders' + 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70472 Label: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Leigh syndrome' - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'disease' - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leigh syndrome' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'disease' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_208347 Label: inositol polyphosphate-5-phosphatase, 72 kDa - 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'gene' - 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' - 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'MORM syndrome' + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'MORM syndrome' + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122654 Label: inhibitor of growth family, member 1 - 'inhibitor of growth family, member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' - 'inhibitor of growth family, member 1' SubClassOf 'gene' + 'inhibitor of growth family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'inhibitor of growth family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inhibitor of growth family, member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' Class: http://www.orpha.net/ORDO/Orphanet_70474 Label: Leigh syndrome with cardiomyopathy - 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease' - 'Leigh syndrome with cardiomyopathy' SubClassOf 'part_of' some 'Leigh syndrome' + 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease' + 'Leigh syndrome with cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_208345 Label: vaccinia related kinase 1 - 'vaccinia related kinase 1' SubClassOf 'gene' - 'vaccinia related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'vaccinia related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vaccinia related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'vaccinia related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98095 Label: Autosomal recessive congenital cerebellar ataxia - 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122656 Label: inhibitor of growth family, member 3 - 'inhibitor of growth family, member 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' - 'inhibitor of growth family, member 3' SubClassOf 'gene' + 'inhibitor of growth family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inhibitor of growth family, member 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'inhibitor of growth family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98096 Label: Autosomal recessive metabolic cerebellar ataxia - 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98097 Label: Autosomal recessive cerebellar ataxia due to a DNA repair defect - 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98098 Label: Autosomal recessive degenerative and progressive cerebellar ataxia - 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70470 Label: Hyperlipoproteinemia type 5 - 'Hyperlipoproteinemia type 5' SubClassOf 'disease' - 'Hyperlipoproteinemia type 5' SubClassOf 'part_of' some 'Major hypertriglyceridemia' + 'Hyperlipoproteinemia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Major hypertriglyceridemia' + 'Hyperlipoproteinemia type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101206 Label: Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus - 'Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus' SubClassOf 'malformation syndrome' - 'Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus' SubClassOf 'part_of' some 'Pulmonary valve agenesis' + 'Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus' SubClassOf 'malformation syndrome' + 'Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary valve agenesis' Class: http://www.orpha.net/ORDO/Orphanet_63273 Label: Distal myopathy with posterior leg and anterior hand involvement - 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'disease' - 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'disease' + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_122649 Label: IMP (inosine 5'-monophosphate) dehydrogenase 1 - 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf 'gene' - 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'IMP (inosine 5'-monophosphate) dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.3-q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_63275 Label: Pemphigoid gestationis - 'Pemphigoid gestationis' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Pemphigoid gestationis' SubClassOf 'disease' + 'Pemphigoid gestationis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Pemphigoid gestationis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigoid gestationis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigoid gestationis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410110) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigoid gestationis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309515 Label: Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'group of disorders' + 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263 Label: Limb-girdle muscular dystrophy - 'Limb-girdle muscular dystrophy' SubClassOf 'group of disorders' + 'Limb-girdle muscular dystrophy' SubClassOf 'group of disorders' + 'Limb-girdle muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Limb-girdle muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Limb-girdle muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Limb-girdle muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Limb-girdle muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Limb-girdle muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_208342 Label: matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) - 'matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)' SubClassOf 'gene' - 'matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal anadysplasia' + 'matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metaphyseal anadysplasia' + 'matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_264 Label: Autosomal dominant limb-girdle muscular dystrophy type 1B - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_314667 Label: TMEM165-CDG - 'TMEM165-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'TMEM165-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'TMEM165-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'TMEM165-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'TMEM165-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'TMEM165-CDG' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'TMEM165-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'TMEM165-CDG' SubClassOf 'disease' - 'TMEM165-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'TMEM165-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'TMEM165-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'TMEM165-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'TMEM165-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'TMEM165-CDG' SubClassOf 'disease' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_261 Label: Emery-Dreifuss muscular dystrophy - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'disease' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'disease' + 'Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_262 Label: Duchenne and Becker muscular dystrophy - 'Duchenne and Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Duchenne and Becker muscular dystrophy' SubClassOf 'group of disorders' - 'Duchenne and Becker muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Duchenne and Becker muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Duchenne and Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duchenne and Becker muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Duchenne and Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne and Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Duchenne and Becker muscular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79022 Label: Simpson-Golabi-Behmel syndrome type 2 - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'malformation syndrome' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'part_of' some 'Macroglossia' - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'malformation syndrome' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_267 Label: Autosomal recessive limb-girdle muscular dystrophy type 2A - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'part_of' some 'Qualitative or quantitative defects of calpain' - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of calpain' + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410172) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_174590 Label: Congenital hypogonadotropic hypogonadism - 'Congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_268 Label: Autosomal recessive limb-girdle muscular dystrophy type 2B - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dysferlin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dysferlin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_265 Label: Autosomal dominant limb-girdle muscular dystrophy type 1C - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'part_of' some 'Qualitative or quantitative defects of caveolin-3' - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of caveolin-3' + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_260545 Label: ankyrin repeat domain 26 - 'ankyrin repeat domain 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' - 'ankyrin repeat domain 26' SubClassOf 'gene' + 'ankyrin repeat domain 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' + 'ankyrin repeat domain 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat domain 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_266 Label: Autosomal dominant limb-girdle muscular dystrophy type 1A - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'part_of' some 'Qualitative or quantitative defects of myotilin' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of myotilin' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_314662 Label: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'disease' - 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'disease' + 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269 Label: Facioscapulohumeral dystrophy - 'Facioscapulohumeral dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Facioscapulohumeral dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Facioscapulohumeral dystrophy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Facioscapulohumeral dystrophy' SubClassOf 'disease' - 'Facioscapulohumeral dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Facioscapulohumeral dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Facioscapulohumeral dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Facioscapulohumeral dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Facioscapulohumeral dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Facioscapulohumeral dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Facioscapulohumeral dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Facioscapulohumeral dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Facioscapulohumeral dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Facioscapulohumeral dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Facioscapulohumeral dystrophy' SubClassOf 'disease' + 'Facioscapulohumeral dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_94056 Label: Humero-ulnar synostosis - 'Humero-ulnar synostosis' SubClassOf 'part_of' some 'Joint formation defects' - 'Humero-ulnar synostosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Humero-ulnar synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Humero-ulnar synostosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Humero-ulnar synostosis' SubClassOf 'morphological anomaly' + 'Humero-ulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Humero-ulnar synostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Humero-ulnar synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Humero-ulnar synostosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_94058 Label: Neovascular glaucoma - 'Neovascular glaucoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Neovascular glaucoma' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Neovascular glaucoma' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Neovascular glaucoma' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Neovascular glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Neovascular glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_263662 Label: Familial multiple meningioma - 'Familial multiple meningioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial multiple meningioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial multiple meningioma' SubClassOf 'disease' - 'Familial multiple meningioma' SubClassOf 'part_of' some 'Tumor of the meninges' - 'Familial multiple meningioma' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial multiple meningioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial multiple meningioma' SubClassOf 'disease' + 'Familial multiple meningioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of the meninges' + 'Familial multiple meningioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_263665 Label: NK-cell enteropathy - 'NK-cell enteropathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'NK-cell enteropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare gastroenterologic disease' - 'NK-cell enteropathy' SubClassOf 'disease' - 'NK-cell enteropathy' SubClassOf 'has_inheritance' some 'sporadic' + 'NK-cell enteropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'NK-cell enteropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'NK-cell enteropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroenterologic disease' + 'NK-cell enteropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'NK-cell enteropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208333 Label: phosphodiesterase 6C, cGMP-specific, cone, alpha prime - 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf 'gene' - 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'phosphodiesterase 6C, cGMP-specific, cone, alpha prime' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' Class: http://www.orpha.net/ORDO/Orphanet_122641 Label: interleukin 2 receptor, gamma - 'interleukin 2 receptor, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' - 'interleukin 2 receptor, gamma' SubClassOf 'gene' - 'interleukin 2 receptor, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'interleukin 2 receptor, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 2 receptor, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' + 'interleukin 2 receptor, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'interleukin 2 receptor, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98086 Label: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue - '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98087 Label: Syndrome with 46,XY disorder of sex development - 'Syndrome with 46,XY disorder of sex development' SubClassOf 'group of disorders' + 'Syndrome with 46,XY disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98085 Label: 46,XY disorder of sex development - '46,XY disorder of sex development' SubClassOf 'group of disorders' + '46,XY disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309526 Label: Disorder of multiple glycosylation - 'Disorder of multiple glycosylation' SubClassOf 'group of disorders' + 'Disorder of multiple glycosylation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102724 Label: Acute myeloid leukemia with t(8;21)(q22;q22) translocation - 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' SubClassOf 'disease' + 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' SubClassOf 'disease' + 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_270 Label: Oculopharyngeal muscular dystrophy - 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'disease' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'part_of' some 'Ptosis' - 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculopharyngeal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculopharyngeal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Oculopharyngeal muscular dystrophy' SubClassOf 'disease' + 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculopharyngeal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Oculopharyngeal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oculopharyngeal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "167.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122638 Label: interleukin 23 receptor - 'interleukin 23 receptor' SubClassOf 'gene' - 'interleukin 23 receptor' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 23 receptor' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 23 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 23 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_36205 Label: Collagenous colitis - 'Collagenous colitis' SubClassOf 'part_of' some 'Microscopic colitis' - 'Collagenous colitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Collagenous colitis' SubClassOf 'clinical subtype' - 'Collagenous colitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Collagenous colitis' SubClassOf 'clinical subtype' + 'Collagenous colitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microscopic colitis' + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Collagenous colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_272 Label: Congenital muscular dystrophy, Fukuyama type - 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'obsolete_class' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'disease' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of FKRP' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of fukutin' Class: http://www.orpha.net/ORDO/Orphanet_36204 Label: Intestinal lymphangiectasia - 'Intestinal lymphangiectasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Intestinal lymphangiectasia' SubClassOf 'group of disorders' - 'Intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Intestinal lymphangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intestinal lymphangiectasia' SubClassOf 'group of disorders' + 'Intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_314679 Label: Cerebro-facio-articular syndrome - 'Cerebro-facio-articular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-facio-articular syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebro-facio-articular syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-facio-articular syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cerebro-facio-articular syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cerebro-facio-articular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cerebro-facio-articular syndrome' SubClassOf 'malformation syndrome' + 'Cerebro-facio-articular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebro-facio-articular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebro-facio-articular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebro-facio-articular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cerebro-facio-articular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-facio-articular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_273 Label: Steinert myotonic dystrophy - 'Steinert myotonic dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Steinert myotonic dystrophy' SubClassOf 'disease' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Ptosis' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Myotonic dystrophy' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Myopathy with eye involvement' - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'Steinert myotonic dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Steinert myotonic dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myopathy with eye involvement' + 'Steinert myotonic dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "76.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myotonic dystrophy' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Steinert myotonic dystrophy' SubClassOf 'disease' + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Steinert myotonic dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "36.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "156.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Steinert myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_247546 Label: Acute neonatal citrullinemia type I - 'Acute neonatal citrullinemia type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acute neonatal citrullinemia type I' SubClassOf 'part_of' some 'Citrullinemia type I' - 'Acute neonatal citrullinemia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acute neonatal citrullinemia type I' SubClassOf 'clinical subtype' + 'Acute neonatal citrullinemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute neonatal citrullinemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acute neonatal citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Citrullinemia type I' + 'Acute neonatal citrullinemia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acute neonatal citrullinemia type I' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_274 Label: Bernard-Soulier syndrome - 'Bernard-Soulier syndrome' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Bernard-Soulier syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bernard-Soulier syndrome' SubClassOf 'disease' - 'Bernard-Soulier syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bernard-Soulier syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bernard-Soulier syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bernard-Soulier syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bernard-Soulier syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bernard-Soulier syndrome' SubClassOf 'disease' + 'Bernard-Soulier syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'Bernard-Soulier syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bernard-Soulier syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_275 Label: Severe combined immunodeficiency due to DCLRE1C deficiency - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_276 Label: T-B+ severe combined immunodeficiency due to gamma chain deficiency - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'disease' - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'disease' + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_277 Label: Severe combined immunodeficiency due to adenosine deaminase deficiency - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_278 Label: Corticobasal degeneration - 'Corticobasal degeneration' SubClassOf 'disease' - 'Corticobasal degeneration' SubClassOf 'part_of' some 'Frontotemporal degeneration with dementia' - 'Corticobasal degeneration' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Corticobasal degeneration' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Corticobasal degeneration' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' + 'Corticobasal degeneration' SubClassOf 'disease' + 'Corticobasal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Corticobasal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Corticobasal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal degeneration with dementia' + 'Corticobasal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Corticobasal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_300903 Label: ALK-negative anaplastic large cell lymphoma - 'ALK-negative anaplastic large cell lymphoma' SubClassOf 'histopathological subtype' - 'ALK-negative anaplastic large cell lymphoma' SubClassOf 'part_of' some 'Anaplastic large cell lymphoma' + 'ALK-negative anaplastic large cell lymphoma' SubClassOf 'histopathological subtype' + 'ALK-negative anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anaplastic large cell lymphoma' + 'ALK-negative anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'ALK-negative anaplastic large cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_122674 Label: interleukin-1 receptor-associated kinase 4 - 'interleukin-1 receptor-associated kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' - 'interleukin-1 receptor-associated kinase 4' SubClassOf 'gene' + 'interleukin-1 receptor-associated kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin-1 receptor-associated kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' + 'interleukin-1 receptor-associated kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120414 Label: uridine monophosphate synthetase - 'uridine monophosphate synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary orotic aciduria' - 'uridine monophosphate synthetase' SubClassOf 'gene' + 'uridine monophosphate synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'uridine monophosphate synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q13"^^http://www.w3.org/2001/XMLSchema#string + 'uridine monophosphate synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary orotic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_220916 Label: Ras and Rab interactor 2 - 'Ras and Rab interactor 2' SubClassOf 'gene' - 'Ras and Rab interactor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'MACS syndrome' + 'Ras and Rab interactor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'MACS syndrome' + 'Ras and Rab interactor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'Ras and Rab interactor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120412 Label: uromodulin - 'uromodulin' SubClassOf 'gene' - 'uromodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' - 'uromodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial juvenile hyperuricemic nephropathy type 1' + 'uromodulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'uromodulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'uromodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial juvenile hyperuricemic nephropathy type 1' + 'uromodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' Class: http://www.orpha.net/ORDO/Orphanet_98038 Label: Cranial malformation - 'Cranial malformation' SubClassOf 'group of disorders' + 'Cranial malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122670 Label: IQ motif containing B1 - 'IQ motif containing B1' SubClassOf 'gene' - 'IQ motif containing B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'IQ motif containing B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'IQ motif containing B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IQ motif containing B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'IQ motif containing B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'IQ motif containing B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98039 Label: Digestive tract malformation - 'Digestive tract malformation' SubClassOf 'group of disorders' + 'Digestive tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220919 Label: folate receptor 1 (adult) - 'folate receptor 1 (adult)' SubClassOf 'gene' - 'folate receptor 1 (adult)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegenerative syndrome due to cerebral folate transport deficiency' + 'folate receptor 1 (adult)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3-q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'folate receptor 1 (adult)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'folate receptor 1 (adult)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegenerative syndrome due to cerebral folate transport deficiency' Class: http://www.orpha.net/ORDO/Orphanet_231736 Label: Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma - 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'malformation syndrome' - 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'malformation syndrome' + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98033 Label: Rare neurologic disease with psychiatric involvement - 'Rare neurologic disease with psychiatric involvement' SubClassOf 'group of disorders' + 'Rare neurologic disease with psychiatric involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98036 Label: Rare otorhinolaryngologic disease - 'Rare otorhinolaryngologic disease' SubClassOf 'group of disorders' + 'Rare otorhinolaryngologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231742 Label: Epibulbar lipodermoid - preauricular appendage - polythelia - 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'group of disorders' - 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'group of disorders' + 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_249 Label: Fibrous dysplasia of bone - 'Fibrous dysplasia of bone' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fibrous dysplasia of bone' SubClassOf 'has_inheritance' some 'sporadic' - 'Fibrous dysplasia of bone' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Fibrous dysplasia of bone' SubClassOf 'has_prevalence' some 'Unknown' - 'Fibrous dysplasia of bone' SubClassOf 'malformation syndrome' + 'Fibrous dysplasia of bone' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fibrous dysplasia of bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Fibrous dysplasia of bone' SubClassOf 'malformation syndrome' + 'Fibrous dysplasia of bone' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_248 Label: Autosomal recessive hypohidrotic ectodermal dysplasia - 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' - 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Hypohidrotic ectodermal dysplasia' - 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypohidrotic ectodermal dysplasia' + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_247 Label: Arrhythmogenic right ventricular dysplasia - 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'group of disorders' + 'Arrhythmogenic right ventricular dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Arrhythmogenic right ventricular dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "43.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_246 Label: Postaxial acrofacial dysostosis - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Secondary ectropion' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Postaxial acrofacial dysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Postaxial acrofacial dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Postaxial acrofacial dysostosis' SubClassOf 'malformation syndrome' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Postaxial acrofacial dysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Postaxial acrofacial dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Postaxial acrofacial dysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Postaxial acrofacial dysostosis' SubClassOf 'malformation syndrome' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Postaxial acrofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Postaxial acrofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_245 Label: Nager syndrome - 'Nager syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Nager syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Nager syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nager syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Nager syndrome' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' - 'Nager syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nager syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nager syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Nager syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Nager syndrome' SubClassOf 'part_of' some 'Malposition of external canthus' - 'Nager syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with branchial archs anomalies' - 'Nager syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nager syndrome' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Nager syndrome' SubClassOf 'malformation syndrome' - 'Nager syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Nager syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Nager syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Nager syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Nager syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nager syndrome' SubClassOf 'malformation syndrome' + 'Nager syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with branchial archs anomalies' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malposition of external canthus' Class: http://www.orpha.net/ORDO/Orphanet_244 Label: Primary ciliary dyskinesia - 'Primary ciliary dyskinesia' SubClassOf 'part_of' some 'Male infertility due to sperm motility disorder' - 'Primary ciliary dyskinesia' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Primary ciliary dyskinesia' SubClassOf 'disease' - 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Primary ciliary dyskinesia' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Primary ciliary dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary ciliary dyskinesia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Primary ciliary dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary ciliary dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary ciliary dyskinesia' SubClassOf 'disease' + 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to sperm motility disorder' + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary ciliary dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_243 Label: 46,XX gonadal dysgenesis - '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - '46,XX gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some 'sporadic' - '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some 'x linked recessive' - '46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - '46,XX gonadal dysgenesis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XX gonadal dysgenesis' SubClassOf 'malformation syndrome' - '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - '46,XX gonadal dysgenesis' SubClassOf 'part_of' some '46,XX disorder of gonadal development' - '46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of gonadal development' + '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XX gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + '46,XX gonadal dysgenesis' SubClassOf 'malformation syndrome' + '46,XX gonadal dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + '46,XX gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + '46,XX gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_242 Label: 46,XY complete gonadal dysgenesis - '46,XY complete gonadal dysgenesis' SubClassOf 'has_inheritance' some 'sporadic' - '46,XY complete gonadal dysgenesis' SubClassOf 'has_prevalence' some 'Unknown' - '46,XY complete gonadal dysgenesis' SubClassOf 'part_of' some 'Syndromic lymphedema' - '46,XY complete gonadal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - '46,XY complete gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - '46,XY complete gonadal dysgenesis' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - '46,XY complete gonadal dysgenesis' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XY complete gonadal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - '46,XY complete gonadal dysgenesis' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - '46,XY complete gonadal dysgenesis' SubClassOf 'malformation syndrome' + '46,XY complete gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '46,XY complete gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + '46,XY complete gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XY complete gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + '46,XY complete gonadal dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241 Label: Dyschromatosis universalis - 'Dyschromatosis universalis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dyschromatosis universalis' SubClassOf 'disease' - 'Dyschromatosis universalis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dyschromatosis universalis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Dyschromatosis universalis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Dyschromatosis universalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dyschromatosis universalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dyschromatosis universalis' SubClassOf 'disease' + 'Dyschromatosis universalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dyschromatosis universalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_240 Label: L�ri-Weill dyschondrosteosis - 'L�ri-Weill dyschondrosteosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'L�ri-Weill dyschondrosteosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'L�ri-Weill dyschondrosteosis' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'L�ri-Weill dyschondrosteosis' SubClassOf 'malformation syndrome' - 'L�ri-Weill dyschondrosteosis' SubClassOf 'has_prevalence' some 'Unknown' + 'L�ri-Weill dyschondrosteosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'L�ri-Weill dyschondrosteosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'L�ri-Weill dyschondrosteosis' SubClassOf 'malformation syndrome' + 'L�ri-Weill dyschondrosteosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_300912 Label: Marginal zone lymphoma - 'Marginal zone lymphoma' SubClassOf 'group of disorders' + 'Marginal zone lymphoma' SubClassOf 'group of disorders' + 'Marginal zone lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_220900 Label: melanocortin 3 receptor - 'melanocortin 3 receptor' SubClassOf 'gene' - 'melanocortin 3 receptor' SubClassOf 'Major susceptibility factor in' some 'Obesity due to MC3R deficiency' + 'melanocortin 3 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'melanocortin 3 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'melanocortin 3 receptor' SubClassOf 'Major susceptibility factor in' some 'Obesity due to MC3R deficiency' Class: http://www.orpha.net/ORDO/Orphanet_122667 Label: inversin - 'inversin' SubClassOf 'gene' - 'inversin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' - 'inversin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'inversin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'inversin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inversin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'inversin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_122664 Label: insulin receptor - 'insulin receptor' SubClassOf 'gene' - 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leprechaunism' - 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to INSR deficiency' - 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Insulin-resistance syndrome type A' - 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rabson-Mendenhall syndrome' + 'insulin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Rabson-Mendenhall syndrome' + 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leprechaunism' + 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Insulin-resistance syndrome type A' + 'insulin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to INSR deficiency' + 'insulin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'insulin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_220905 Label: histidine-rich glycoprotein - 'histidine-rich glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' - 'histidine-rich glycoprotein' SubClassOf 'gene' + 'histidine-rich glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' + 'histidine-rich glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histidine-rich glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123797 Label: NK2 homeobox 5 - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated congenital asplenia' - 'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect - atrioventricular conduction defects' - 'NK2 homeobox 5' SubClassOf 'Modifying germline mutation in' some 'Familial progressive cardiac conduction defect' - 'NK2 homeobox 5' SubClassOf 'gene' + 'NK2 homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string + 'NK2 homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated congenital asplenia' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect - atrioventricular conduction defects' + 'NK2 homeobox 5' SubClassOf 'Modifying germline mutation in' some 'Familial progressive cardiac conduction defect' Class: http://www.orpha.net/ORDO/Orphanet_220909 Label: FRAS1 related extracellular matrix 1 - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculotrichoanal syndrome' - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'BNAR syndrome' - 'FRAS1 related extracellular matrix 1' SubClassOf 'gene' - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated trigonocephaly' - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'FRAS1 related extracellular matrix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculotrichoanal syndrome' + 'FRAS1 related extracellular matrix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FRAS1 related extracellular matrix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'BNAR syndrome' + 'FRAS1 related extracellular matrix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated trigonocephaly' Class: http://www.orpha.net/ORDO/Orphanet_98028 Label: Rare circulatory system disease - 'Rare circulatory system disease' SubClassOf 'group of disorders' + 'Rare circulatory system disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98027 Label: Rare disease with odontological manifestation - 'Rare disease with odontological manifestation' SubClassOf 'group of disorders' + 'Rare disease with odontological manifestation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98026 Label: Rare odontologic disease - 'Rare odontologic disease' SubClassOf 'group of disorders' + 'Rare odontologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98023 Label: Rare systemic or rheumatologic disease - 'Rare systemic or rheumatologic disease' SubClassOf 'group of disorders' + 'Rare systemic or rheumatologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98022 Label: Rare headache - 'Rare headache' SubClassOf 'group of disorders' + 'Rare headache' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_258 Label: Congenital muscular dystrophy type 1A - 'Congenital muscular dystrophy type 1A' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital muscular dystrophy type 1A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital muscular dystrophy type 1A' SubClassOf 'part_of' some 'Qualitative or quantitative defects of merosin' - 'Congenital muscular dystrophy type 1A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy type 1A' SubClassOf 'malformation syndrome' - 'Congenital muscular dystrophy type 1A' SubClassOf 'part_of' some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of merosin' + 'Congenital muscular dystrophy type 1A' SubClassOf 'malformation syndrome' + 'Congenital muscular dystrophy type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_89938 Label: Infantile Bartter syndrome with deafness - 'Infantile Bartter syndrome with deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Infantile Bartter syndrome with deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Infantile Bartter syndrome with deafness' SubClassOf 'clinical subtype' - 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile Bartter syndrome with deafness' SubClassOf 'part_of' some 'Bartter syndrome' - 'Infantile Bartter syndrome with deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile Bartter syndrome with deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Infantile Bartter syndrome with deafness' SubClassOf 'clinical subtype' + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile Bartter syndrome with deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_33572 Label: 5-oxoprolinase deficiency - '5-oxoprolinase deficiency' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' - '5-oxoprolinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '5-oxoprolinase deficiency' SubClassOf 'disease' - '5-oxoprolinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '5-oxoprolinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + '5-oxoprolinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5-oxoprolinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '5-oxoprolinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '5-oxoprolinase deficiency' SubClassOf 'disease' + '5-oxoprolinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of the gamma-glutamyl cycle' Class: http://www.orpha.net/ORDO/Orphanet_89936 Label: X-linked hypophosphatemia - 'X-linked hypophosphatemia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked hypophosphatemia' SubClassOf 'disease' - 'X-linked hypophosphatemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked hypophosphatemia' SubClassOf 'part_of' some 'Hypophosphatemic rickets' - 'X-linked hypophosphatemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'X-linked hypophosphatemia' SubClassOf 'disease' + 'X-linked hypophosphatemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked hypophosphatemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked hypophosphatemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_255 Label: Dopa-responsive dystonia - 'Dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dopa-responsive dystonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Dopa-responsive dystonia' SubClassOf 'group of disorders' + 'Dopa-responsive dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dopa-responsive dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dopa-responsive dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_89937 Label: Autosomal dominant hypophosphatemic rickets - 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'disease' - 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'part_of' some 'Hypophosphatemic rickets' + 'Autosomal dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatemic rickets' + 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'disease' + 'Autosomal dominant hypophosphatemic rickets' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_254 Label: Spondylometaphyseal dysplasia - 'Spondylometaphyseal dysplasia' SubClassOf 'group of disorders' + 'Spondylometaphyseal dysplasia' SubClassOf 'group of disorders' + 'Spondylometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondylometaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spondylometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Spondylometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_257 Label: Epidermolysis bullosa simplex with muscular dystrophy - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of plectin' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of plectin' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_256 Label: Early-onset generalized limb-onset dystonia - 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Early-onset generalized limb-onset dystonia' SubClassOf 'disease' - 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Early-onset generalized limb-onset dystonia' SubClassOf 'part_of' some 'Generalized isolated dystonia' + 'Early-onset generalized limb-onset dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset generalized limb-onset dystonia' SubClassOf 'disease' + 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset generalized limb-onset dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Early-onset generalized limb-onset dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset generalized limb-onset dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset generalized limb-onset dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Early-onset generalized limb-onset dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset generalized limb-onset dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized isolated dystonia' Class: http://www.orpha.net/ORDO/Orphanet_251 Label: Multiple epiphyseal dysplasia - 'Multiple epiphyseal dysplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple epiphyseal dysplasia' SubClassOf 'group of disorders' - 'Multiple epiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Multiple epiphyseal dysplasia' SubClassOf 'group of disorders' + 'Multiple epiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple epiphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple epiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_33577 Label: Nodular non-suppurative panniculitis - 'Nodular non-suppurative panniculitis' SubClassOf 'disease' - 'Nodular non-suppurative panniculitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Nodular non-suppurative panniculitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Nodular non-suppurative panniculitis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Nodular non-suppurative panniculitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Nodular non-suppurative panniculitis' SubClassOf 'disease' + 'Nodular non-suppurative panniculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Nodular non-suppurative panniculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nodular non-suppurative panniculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_250 Label: Frontonasal dysplasia - 'Frontonasal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Frontonasal dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Frontonasal dysplasia' SubClassOf 'group of disorders' - 'Frontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Frontonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Frontonasal dysplasia' SubClassOf 'group of disorders' + 'Frontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_253 Label: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'group of disorders' + 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'group of disorders' + 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_244693 Label: solute carrier family 6 (neurotransmitter transporter), member 3 - 'solute carrier family 6 (neurotransmitter transporter), member 3' SubClassOf 'gene' - 'solute carrier family 6 (neurotransmitter transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile dystonia-parkinsonism' + 'solute carrier family 6 (neurotransmitter transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (neurotransmitter transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile dystonia-parkinsonism' + 'solute carrier family 6 (neurotransmitter transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_33574 Label: Gamma-glutamylcysteine synthetase deficiency - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'disease' + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of the gamma-glutamyl cycle' + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_33573 Label: Gamma-glutamyl transpeptidase deficiency - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'disease' - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'disease' + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of the gamma-glutamyl cycle' + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_235936 Label: Familial hyperaldosteronism - 'Familial hyperaldosteronism' SubClassOf 'group of disorders' + 'Familial hyperaldosteronism' SubClassOf 'group of disorders' + 'Familial hyperaldosteronism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial hyperaldosteronism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122695 Label: integrin, alpha 6 - 'integrin, alpha 6' SubClassOf 'gene' - 'integrin, alpha 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa - pyloric atresia' + 'integrin, alpha 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa - pyloric atresia' + 'integrin, alpha 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, alpha 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98050 Label: Rare allergic disease - 'Rare allergic disease' SubClassOf 'group of disorders' + 'Rare allergic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120433 Label: Usher syndrome 1C (autosomal recessive, severe) - 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'gene' + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122698 Label: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) - 'integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)' SubClassOf 'gene' - 'integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukocyte adhesion deficiency type I' + 'integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukocyte adhesion deficiency type I' + 'integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98052 Label: Rare allergic respiratory disease - 'Rare allergic respiratory disease' SubClassOf 'group of disorders' + 'Rare allergic respiratory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120431 Label: uroporphyrinogen III synthase - 'uroporphyrinogen III synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' - 'uroporphyrinogen III synthase' SubClassOf 'gene' + 'uroporphyrinogen III synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.2-q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'uroporphyrinogen III synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'uroporphyrinogen III synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_98054 Label: Rare genetic cardiac disease - 'Rare genetic cardiac disease' SubClassOf 'group of disorders' + 'Rare genetic cardiac disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98053 Label: Rare genetic disease - 'Rare genetic disease' SubClassOf 'group of disorders' + 'Rare genetic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_297456 Label: 5-oxoprolinase (ATP-hydrolysing) - '5-oxoprolinase (ATP-hydrolysing)' SubClassOf 'gene' - '5-oxoprolinase (ATP-hydrolysing)' SubClassOf 'Disease-causing germline mutation(s) in' some '5-oxoprolinase deficiency' + '5-oxoprolinase (ATP-hydrolysing)' SubClassOf 'Disease-causing germline mutation(s) in' some '5-oxoprolinase deficiency' + '5-oxoprolinase (ATP-hydrolysing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5-oxoprolinase (ATP-hydrolysing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98056 Label: Rare genetic renal disease - 'Rare genetic renal disease' SubClassOf 'group of disorders' + 'Rare genetic renal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168086 Label: potassium voltage-gated channel, shaker-related subfamily, member 5 - 'potassium voltage-gated channel, shaker-related subfamily, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'potassium voltage-gated channel, shaker-related subfamily, member 5' SubClassOf 'gene' + 'potassium voltage-gated channel, shaker-related subfamily, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'potassium voltage-gated channel, shaker-related subfamily, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, shaker-related subfamily, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289465 Label: Isolated adermatoglyphia - 'Isolated adermatoglyphia' SubClassOf 'disease' - 'Isolated adermatoglyphia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated adermatoglyphia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated adermatoglyphia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Isolated adermatoglyphia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated adermatoglyphia' SubClassOf 'part_of' some 'Rare genetic developmental defect during embryogenesis' + 'Isolated adermatoglyphia' SubClassOf 'disease' + 'Isolated adermatoglyphia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated adermatoglyphia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic developmental defect during embryogenesis' + 'Isolated adermatoglyphia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated adermatoglyphia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Isolated adermatoglyphia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98058 Label: Rare urinary tract tumor - 'Rare urinary tract tumor' SubClassOf 'group of disorders' + 'Rare urinary tract tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_218 Label: Darier disease - 'Darier disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Darier disease' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Darier disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Darier disease' SubClassOf 'disease' - 'Darier disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Darier disease' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Darier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Darier disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Darier disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Darier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Darier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Darier disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Darier disease' SubClassOf 'disease' + 'Darier disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Darier disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122690 Label: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) - 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'gene' - 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' - 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glanzmann thrombasthenia' + 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' + 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glanzmann thrombasthenia' + 'integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98057 Label: Rare tumor - 'Rare tumor' SubClassOf 'group of disorders' + 'Rare tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_219 Label: Autosomal recessive limb-girdle muscular dystrophy type 2F - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'part_of' some 'Qualitative or quantitative defects of delta-sarcoglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of delta-sarcoglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98059 Label: Rare digestive tumor - 'Rare digestive tumor' SubClassOf 'group of disorders' + 'Rare digestive tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_224 Label: Neonatal diabetes mellitus - 'Neonatal diabetes mellitus' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some 'sporadic' - 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal diabetes mellitus' SubClassOf 'group of disorders' + 'Neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_223 Label: Nephrogenic diabetes insipidus - 'Nephrogenic diabetes insipidus' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Nephrogenic diabetes insipidus' SubClassOf 'disease' - 'Nephrogenic diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Nephrogenic diabetes insipidus' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nephrogenic diabetes insipidus' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nephrogenic diabetes insipidus' SubClassOf 'disease' + 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Nephrogenic diabetes insipidus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephrogenic diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nephrogenic diabetes insipidus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephrogenic diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Nephrogenic diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_244686 Label: apoptosis-inducing factor, mitochondrion-associated, 1 - 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf 'gene' - 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe X-linked mitochondrial encephalomyopathy' - 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 4' + 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.1"^^http://www.w3.org/2001/XMLSchema#string + 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe X-linked mitochondrial encephalomyopathy' + 'apoptosis-inducing factor, mitochondrion-associated, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_247598 Label: Neonatal intrahepatic cholestasis due to citrin deficiency - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'disease' - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'part_of' some 'Citrin deficiency' - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Citrin deficiency' + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_222 Label: Erosive pustular dermatosis of the scalp - 'Erosive pustular dermatosis of the scalp' SubClassOf 'has_prevalence' some 'Unknown' - 'Erosive pustular dermatosis of the scalp' SubClassOf 'has_inheritance' some 'sporadic' - 'Erosive pustular dermatosis of the scalp' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Erosive pustular dermatosis of the scalp' SubClassOf 'disease' + 'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Erosive pustular dermatosis of the scalp' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Erosive pustular dermatosis of the scalp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Erosive pustular dermatosis of the scalp' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_221 Label: Dermatomyositis - 'Dermatomyositis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dermatomyositis' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Dermatomyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Dermatomyositis' SubClassOf 'disease' - 'Dermatomyositis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Dermatomyositis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Dermatomyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' + 'Dermatomyositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf 'disease' + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.49"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.97"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.96"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_168083 Label: glutamate-ammonia ligase - 'glutamate-ammonia ligase' SubClassOf 'gene' - 'glutamate-ammonia ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital brain dysgenesis due to glutamine synthetase deficiency' + 'glutamate-ammonia ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate-ammonia ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital brain dysgenesis due to glutamine synthetase deficiency' + 'glutamate-ammonia ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231720 Label: Non-acquired combined pituitary hormone deficiency with spine abnormalities - 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'malformation syndrome' - 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'malformation syndrome' + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79062 Label: Disorder of amino acid and other organic acid metabolism - 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'group of disorders' + 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227 Label: Diphallia - 'Diphallia' SubClassOf 'morphological anomaly' - 'Diphallia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diphallia' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Diphallia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Diphallia' SubClassOf 'morphological anomaly' + 'Diphallia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diphallia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diphallia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Diphallia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Diphallia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_226 Label: Dihydropteridine reductase deficiency - 'Dihydropteridine reductase deficiency' SubClassOf 'clinical subtype' - 'Dihydropteridine reductase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Dihydropteridine reductase deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' - 'Dihydropteridine reductase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dihydropteridine reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dihydropteridine reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dihydropteridine reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dihydropteridine reductase deficiency' SubClassOf 'clinical subtype' + 'Dihydropteridine reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + 'Dihydropteridine reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118500 Label: sodium channel, voltage-gated, type II, alpha subunit - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal-infantile seizures' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal-infantile seizures' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Early infantile epileptic encephalopathy' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_225 Label: Maternally-inherited diabetes and deafness - 'Maternally-inherited diabetes and deafness' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited diabetes and deafness' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited diabetes and deafness' SubClassOf 'disease' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Maternally-inherited diabetes and deafness' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Maternally-inherited diabetes and deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Maternally-inherited diabetes and deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Maternally-inherited diabetes and deafness' SubClassOf 'disease' + 'Maternally-inherited diabetes and deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_118507 Label: sodium channel, voltage-gated, type IV, alpha subunit - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paramyotonia congenita of Von Eulenburg' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myotonia fluctuans' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myotonia permanens' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acetazolamide-responsive myotonia' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperkalemic periodic paralysis' - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paramyotonia congenita of Von Eulenburg' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hyperkalemic periodic paralysis' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myotonia fluctuans' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myotonia permanens' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acetazolamide-responsive myotonia' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_120429 Label: uroporphyrinogen decarboxylase - 'uroporphyrinogen decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatoerythropoietic porphyria' - 'uroporphyrinogen decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria cutanea tarda' - 'uroporphyrinogen decarboxylase' SubClassOf 'gene' + 'uroporphyrinogen decarboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'uroporphyrinogen decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatoerythropoietic porphyria' + 'uroporphyrinogen decarboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria cutanea tarda' + 'uroporphyrinogen decarboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_216452 Label: Postlingual non-syndromic genetic deafness - 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'disease' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'part_of' some 'Non-syndromic genetic deafness' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Postlingual non-syndromic genetic deafness' SubClassOf 'disease' + 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Postlingual non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Postlingual non-syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_220 Label: Denys-Drash syndrome - 'Denys-Drash syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Denys-Drash syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Denys-Drash syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Denys-Drash syndrome' SubClassOf 'disease' - 'Denys-Drash syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Denys-Drash syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Denys-Drash syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Denys-Drash syndrome' SubClassOf 'disease' + 'Denys-Drash syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Denys-Drash syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Denys-Drash syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_120426 Label: ureidopropionase, beta - 'ureidopropionase, beta' SubClassOf 'gene' - 'ureidopropionase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-ureidopropionase deficiency' + 'ureidopropionase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ureidopropionase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-ureidopropionase deficiency' + 'ureidopropionase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122684 Label: interferon regulatory factor 6 - 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant popliteal pterygium syndrome' - 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van der Woude syndrome' - 'interferon regulatory factor 6' SubClassOf 'gene' + 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant popliteal pterygium syndrome' + 'interferon regulatory factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van der Woude syndrome' + 'interferon regulatory factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon regulatory factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.2-q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391392 Label: Familial episodic pain syndrome with predominantly lower limb involvement - 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'part_of' some 'Familial episodic pain syndrome' - 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'clinical subtype' - 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'clinical subtype' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial episodic pain syndrome' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_220928 Label: desmocollin 3 - 'desmocollin 3' SubClassOf 'gene' - 'desmocollin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypotrichosis with recurrent skin vesicles' + 'desmocollin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'desmocollin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypotrichosis with recurrent skin vesicles' + 'desmocollin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98043 Label: Diaphragmatic or abdominal wall malformation - 'Diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' + 'Diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289478 Label: Pyoderma gangrenosum - acne - suppurative hidradenitis - 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'disease' - 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'disease' + 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pyoderma gangrenosum - acne - suppurative hidradenitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_220922 Label: dedicator of cytokinesis 8 - 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome' - 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to DOCK8 deficiency' - 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'dedicator of cytokinesis 8' SubClassOf 'gene' + 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome' + 'dedicator of cytokinesis 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'dedicator of cytokinesis 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to DOCK8 deficiency' + 'dedicator of cytokinesis 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391397 Label: Hereditary sensory and autonomic neuropathy type 7 - 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'disease' - 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98041 Label: Visceral malformation of the liver, biliary tract, pancreas or spleen - 'Visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' + 'Visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120421 Label: uracil-DNA glycosylase - 'uracil-DNA glycosylase' SubClassOf 'gene' - 'uracil-DNA glycosylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 5' + 'uracil-DNA glycosylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'uracil-DNA glycosylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'uracil-DNA glycosylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 5' Class: http://www.orpha.net/ORDO/Orphanet_98047 Label: Rare infertility - 'Rare infertility' SubClassOf 'group of disorders' + 'Rare infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229 Label: Familial aortic dissection - 'Familial aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial aortic dissection' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Familial aortic dissection' SubClassOf 'disease' + 'Familial aortic dissection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial aortic dissection' SubClassOf 'disease' + 'Familial aortic dissection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_98045 Label: Respiratory or mediastinal malformation - 'Respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98044 Label: Central nervous system malformation - 'Central nervous system malformation' SubClassOf 'group of disorders' + 'Central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168099 Label: kynureninase - 'kynureninase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to hydroxykynureninuria' - 'kynureninase' SubClassOf 'gene' + 'kynureninase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to hydroxykynureninuria' + 'kynureninase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kynureninase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98049 Label: Rare female infertility - 'Rare female infertility' SubClassOf 'group of disorders' + 'Rare female infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98048 Label: Rare male infertility - 'Rare male infertility' SubClassOf 'group of disorders' + 'Rare male infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289472 Label: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 - 'SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1' SubClassOf 'gene' - 'SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated adermatoglyphia' + 'SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated adermatoglyphia' Class: http://www.orpha.net/ORDO/Orphanet_233 Label: Duane retraction syndrome - 'Duane retraction syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Duane retraction syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Duane retraction syndrome' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Duane retraction syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Duane retraction syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Duane retraction syndrome' SubClassOf 'malformation syndrome' - 'Duane retraction syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Duane retraction syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Duane retraction syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Duane retraction syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Duane retraction syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Duane retraction syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' + 'Duane retraction syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duane retraction syndrome' SubClassOf 'malformation syndrome' + 'Duane retraction syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_232 Label: Sickle cell anemia - 'Sickle cell anemia' SubClassOf 'part_of' some 'Sickle cell disease and related diseases' - 'Sickle cell anemia' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Sickle cell anemia' SubClassOf 'part_of' some 'Rare hereditary disease with avascular necrosis' - 'Sickle cell anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sickle cell anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell anemia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Sickle cell anemia' SubClassOf 'disease' - 'Sickle cell anemia' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'Sickle cell anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease and related diseases' + 'Sickle cell anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "47.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with avascular necrosis' + 'Sickle cell anemia' SubClassOf 'disease' + 'Sickle cell anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_247585 Label: Citrullinemia type II - 'Citrullinemia type II' SubClassOf 'disease' - 'Citrullinemia type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Citrullinemia type II' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Citrullinemia type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Citrullinemia type II' SubClassOf 'part_of' some 'Citrin deficiency' + 'Citrullinemia type II' SubClassOf 'disease' + 'Citrullinemia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Citrin deficiency' + 'Citrullinemia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Citrullinemia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_235 Label: Dubowitz syndrome - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dubowitz syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Dubowitz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Dubowitz syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Dubowitz syndrome' SubClassOf 'malformation syndrome' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Dubowitz syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Dubowitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Dubowitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dubowitz syndrome' SubClassOf 'malformation syndrome' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dubowitz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Dubowitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_234 Label: Dubin-Johnson syndrome - 'Dubin-Johnson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Dubin-Johnson syndrome' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Dubin-Johnson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dubin-Johnson syndrome' SubClassOf 'disease' - 'Dubin-Johnson syndrome' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' - 'Dubin-Johnson syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Dubin-Johnson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Dubin-Johnson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dubin-Johnson syndrome' SubClassOf 'disease' + 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' + 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Dubin-Johnson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_237 Label: Duplication of urethra - 'Duplication of urethra' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Duplication of urethra' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Duplication of urethra' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Duplication of urethra' SubClassOf 'morphological anomaly' + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Duplication of urethra' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_247582 Label: Citrin deficiency - 'Citrin deficiency' SubClassOf 'group of disorders' + 'Citrin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Citrin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Citrin deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168091 Label: melanocortin 4 receptor - 'melanocortin 4 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to melanocortin 4 receptor deficiency' - 'melanocortin 4 receptor' SubClassOf 'gene' + 'melanocortin 4 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'melanocortin 4 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to melanocortin 4 receptor deficiency' + 'melanocortin 4 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_236 Label: Trisomy 9p - 'Trisomy 9p' SubClassOf 'malformation syndrome' - 'Trisomy 9p' SubClassOf 'part_of' some 'Partial trisomy of the short arm of chromosome 9' - 'Trisomy 9p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 9p' SubClassOf 'malformation syndrome' + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the short arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_239 Label: Dyggve-Melchior-Clausen disease - 'Dyggve-Melchior-Clausen disease' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Dyggve-Melchior-Clausen disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dyggve-Melchior-Clausen disease' SubClassOf 'disease' - 'Dyggve-Melchior-Clausen disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dyggve-Melchior-Clausen disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Dyggve-Melchior-Clausen disease' SubClassOf 'disease' + 'Dyggve-Melchior-Clausen disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dyggve-Melchior-Clausen disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dyggve-Melchior-Clausen disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_118513 Label: sodium channel, voltage-gated, type V, alpha subunit - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive cardiac conduction defect' - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial progressive cardiac conduction defect' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' Class: http://www.orpha.net/ORDO/Orphanet_168093 Label: iron-sulfur cluster assembly enzyme - 'iron-sulfur cluster assembly enzyme' SubClassOf 'gene' - 'iron-sulfur cluster assembly enzyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' + 'iron-sulfur cluster assembly enzyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' + 'iron-sulfur cluster assembly enzyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'iron-sulfur cluster assembly enzyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238 Label: Digestive duplication - 'Digestive duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Digestive duplication' SubClassOf 'morphological anomaly' + 'Digestive duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' + 'Digestive duplication' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120419 Label: unc-93 homolog B1 (C. elegans) - 'unc-93 homolog B1 (C. elegans)' SubClassOf 'gene' - 'unc-93 homolog B1 (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' + 'unc-93 homolog B1 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'unc-93 homolog B1 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'unc-93 homolog B1 (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_391389 Label: Familial episodic pain syndrome with predominantly upper body involvement - 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'clinical subtype' - 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'part_of' some 'Familial episodic pain syndrome' - 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial episodic pain syndrome' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'clinical subtype' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120416 Label: unc-13 homolog D (C. elegans) - 'unc-13 homolog D (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' - 'unc-13 homolog D (C. elegans)' SubClassOf 'gene' + 'unc-13 homolog D (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'unc-13 homolog D (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'unc-13 homolog D (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309568 Label: Defect in conserved oligomeric Golgi complex - 'Defect in conserved oligomeric Golgi complex' SubClassOf 'group of disorders' + 'Defect in conserved oligomeric Golgi complex' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231 Label: Dracunculiasis - 'Dracunculiasis' SubClassOf 'part_of' some 'Filariasis' - 'Dracunculiasis' SubClassOf 'disease' - 'Dracunculiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Dracunculiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Dracunculiasis' SubClassOf 'disease' + 'Dracunculiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Dracunculiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_230 Label: Dopamine beta-hydroxylase deficiency - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Ptosis' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Primary orthostatic hypotension' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Disorder of catecholamine synthesis' - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'disease' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Dopamine beta-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dopamine beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' + 'Dopamine beta-hydroxylase deficiency' SubClassOf 'disease' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of catecholamine synthesis' Class: http://www.orpha.net/ORDO/Orphanet_2959 Label: Prog�ria - short stature - pigmented nevi - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'part_of' some 'Premature aging' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'malformation syndrome' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Prog�ria - short stature - pigmented nevi' SubClassOf 'part_of' some 'Progeroid syndrome' + 'Prog�ria - short stature - pigmented nevi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Prog�ria - short stature - pigmented nevi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Prog�ria - short stature - pigmented nevi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Prog�ria - short stature - pigmented nevi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Prog�ria - short stature - pigmented nevi' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Prog�ria - short stature - pigmented nevi' SubClassOf 'malformation syndrome' + 'Prog�ria - short stature - pigmented nevi' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_314603 Label: Autosomal recessive spastic ataxia with leukoencephalopathy - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'disease' - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2958 Label: X-linked intellectual disability - dysmorphism - cerebral atrophy - 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2957 Label: Guttmacher syndrome - 'Guttmacher syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Guttmacher syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Guttmacher syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Guttmacher syndrome' SubClassOf 'malformation syndrome' - 'Guttmacher syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Guttmacher syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Guttmacher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Guttmacher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Guttmacher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Guttmacher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Guttmacher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Guttmacher syndrome' SubClassOf 'malformation syndrome' + 'Guttmacher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35107 Label: Desmosterolosis - 'Desmosterolosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Desmosterolosis' SubClassOf 'disease' - 'Desmosterolosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Desmosterolosis' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'Desmosterolosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Desmosterolosis' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' + 'Desmosterolosis' SubClassOf 'disease' + 'Desmosterolosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Desmosterolosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Desmosterolosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Desmosterolosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123759 Label: sialidase 1 (lysosomal sialidase) - 'sialidase 1 (lysosomal sialidase)' SubClassOf 'gene' - 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialidosis type 1' - 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sialidosis type 2' - 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile sialidosis type 2' + 'sialidase 1 (lysosomal sialidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialidosis type 1' + 'sialidase 1 (lysosomal sialidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sialidosis type 2' + 'sialidase 1 (lysosomal sialidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile sialidosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_79086 Label: Acquired generalized lipodystrophy - 'Acquired generalized lipodystrophy' SubClassOf 'disease' - 'Acquired generalized lipodystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acquired generalized lipodystrophy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Acquired generalized lipodystrophy' SubClassOf 'part_of' some 'Acquired lipodystrophy' - 'Acquired generalized lipodystrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired generalized lipodystrophy' SubClassOf 'has_prevalence' some 'Unknown' + 'Acquired generalized lipodystrophy' SubClassOf 'disease' + 'Acquired generalized lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired lipodystrophy' + 'Acquired generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Acquired generalized lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_68329 Label: Rare maxillo-facial surgical disease - 'Rare maxillo-facial surgical disease' SubClassOf 'group of disorders' + 'Rare maxillo-facial surgical disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79085 Label: Familial partial lipodystrophy due to AKT2 mutations - 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'disease' - 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79084 Label: Familial partial lipodystrophy, K�bberling type - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'disease' - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'part_of' some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'disease' + 'Familial partial lipodystrophy, K�bberling type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy, K�bberling type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79083 Label: Familial partial lipodystrophy associated with PPARG mutations - 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'disease' - 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'disease' + 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118525 Label: sodium channel, voltage-gated, type IX, alpha subunit - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythromelalgia' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sodium channelopathy-related small fiber neuropathy' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Channelopathy-associated congenital insensitivity to pain' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary erythermalgia' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Dravet syndrome' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal extreme pain disorder' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 2' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Erythromelalgia' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary erythermalgia' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary sensory and autonomic neuropathy type 2' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Channelopathy-associated congenital insensitivity to pain' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal extreme pain disorder' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Sodium channelopathy-related small fiber neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79088 Label: Localized lipodystrophy - 'Localized lipodystrophy' SubClassOf 'group of disorders' + 'Localized lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Localized lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Localized lipodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79087 Label: Partial acquired lipodystrophy - 'Partial acquired lipodystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Partial acquired lipodystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Partial acquired lipodystrophy' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Partial acquired lipodystrophy' SubClassOf 'part_of' some 'Acquired lipodystrophy' - 'Partial acquired lipodystrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Partial acquired lipodystrophy' SubClassOf 'disease' + 'Partial acquired lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Partial acquired lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired lipodystrophy' + 'Partial acquired lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Partial acquired lipodystrophy' SubClassOf 'disease' + 'Partial acquired lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_250923 Label: Isolated aniridia - 'Isolated aniridia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated aniridia' SubClassOf 'morphological anomaly' - 'Isolated aniridia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated aniridia' SubClassOf 'part_of' some 'Aniridia' - 'Isolated aniridia' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Isolated aniridia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated aniridia' SubClassOf 'has_inheritance' some 'sporadic' + 'Isolated aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated aniridia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Isolated aniridia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated aniridia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated aniridia' SubClassOf 'morphological anomaly' + 'Isolated aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated aniridia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated aniridia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aniridia' + 'Isolated aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_2962 Label: De Barsy syndrome - 'De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'De Barsy syndrome' SubClassOf 'disease' - 'De Barsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Premature aging' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'De Barsy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Cataract associated with a metabolic disease' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Disorder of proline metabolism' - 'De Barsy syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of proline metabolism' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cataract associated with a metabolic disease' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'De Barsy syndrome' SubClassOf 'disease' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'De Barsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'De Barsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'De Barsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2963 Label: Progeroid syndrome, Petty type - 'Progeroid syndrome, Petty type' SubClassOf 'part_of' some 'Premature aging' - 'Progeroid syndrome, Petty type' SubClassOf 'malformation syndrome' + 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Progeroid syndrome, Petty type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123767 Label: neurogenin 3 - 'neurogenin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' - 'neurogenin 3' SubClassOf 'gene' + 'neurogenin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'neurogenin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurogenin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' Class: http://www.orpha.net/ORDO/Orphanet_308487 Label: Generalized galactose epimerase deficiency - 'Generalized galactose epimerase deficiency' SubClassOf 'part_of' some 'Galactose epimerase deficiency' - 'Generalized galactose epimerase deficiency' SubClassOf 'clinical subtype' + 'Generalized galactose epimerase deficiency' SubClassOf 'clinical subtype' + 'Generalized galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Galactose epimerase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2966 Label: Properdin deficiency - 'Properdin deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Properdin deficiency' SubClassOf 'disease' + 'Properdin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Properdin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123762 Label: neuronal differentiation 1 - 'neuronal differentiation 1' SubClassOf 'gene' - 'neuronal differentiation 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'neuronal differentiation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32"^^http://www.w3.org/2001/XMLSchema#string + 'neuronal differentiation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neuronal differentiation 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391384 Label: Familial episodic pain syndrome - 'Familial episodic pain syndrome' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Familial episodic pain syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial episodic pain syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial episodic pain syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial episodic pain syndrome' SubClassOf 'disease' + 'Familial episodic pain syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial episodic pain syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial episodic pain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Familial episodic pain syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial episodic pain syndrome' SubClassOf 'disease' + 'Familial episodic pain syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2967 Label: Protein R deficiency - 'Protein R deficiency' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Protein R deficiency' SubClassOf 'disease' + 'Protein R deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Protein R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391381 Label: Disorder of asparagine metabolism - 'Disorder of asparagine metabolism' SubClassOf 'group of disorders' + 'Disorder of asparagine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2964 Label: Autosomal dominant prognathism - 'Autosomal dominant prognathism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Autosomal dominant prognathism' SubClassOf 'malformation syndrome' - 'Autosomal dominant prognathism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal dominant prognathism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal dominant prognathism' SubClassOf 'malformation syndrome' + 'Autosomal dominant prognathism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2965 Label: Prolactinoma - 'Prolactinoma' SubClassOf 'has_prevalence' some '6-9 / 10 000' - 'Prolactinoma' SubClassOf 'disease' - 'Prolactinoma' SubClassOf 'part_of' some 'Functioning pituitary adenoma' - 'Prolactinoma' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Prolactinoma' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Prolactinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "94.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Prolactinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Prolactinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Prolactinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Prolactinoma' SubClassOf 'disease' + 'Prolactinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_121501 Label: ATPase, Na+/K+ transporting, alpha 3 polypeptide - 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' - 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rapid-onset dystonia-parkinsonism' - 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'gene' - 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rapid-onset dystonia-parkinsonism' + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2947 Label: Triphalangeal thumbs - brachyectrodactyly - 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'malformation syndrome' - 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'malformation syndrome' + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_2946 Label: Brachydactyly - long thumb - 'Brachydactyly - long thumb' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly - long thumb' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly - long thumb' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Brachydactyly - long thumb' SubClassOf 'malformation syndrome' - 'Brachydactyly - long thumb' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - long thumb' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Brachydactyly - long thumb' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly - long thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Brachydactyly - long thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Brachydactyly - long thumb' SubClassOf 'malformation syndrome' + 'Brachydactyly - long thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - long thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly - long thumb' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly - long thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly - long thumb' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_314613 Label: Growing teratoma syndrome - 'Growing teratoma syndrome' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Growing teratoma syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Growing teratoma syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Growing teratoma syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Growing teratoma syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Growing teratoma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Growing teratoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Growing teratoma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Growing teratoma syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118539 Label: sodium channel, non-voltage-gated 1, gamma subunit - 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' - 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'gene' - 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' - 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Liddle syndrome' + 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Liddle syndrome' + 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' + 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' + 'sodium channel, non-voltage-gated 1, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123749 Label: nebulin - 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' - 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' - 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' - 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' - 'nebulin' SubClassOf 'gene' + 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' + 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nebulin-related early-onset distal myopathy' + 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' + 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' + 'nebulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' + 'nebulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22"^^http://www.w3.org/2001/XMLSchema#string + 'nebulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118536 Label: sodium channel, non-voltage-gated 1, beta subunit - 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Liddle syndrome' - 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'gene' - 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' - 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' + 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' + 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2-p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Liddle syndrome' + 'sodium channel, non-voltage-gated 1, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' Class: http://www.orpha.net/ORDO/Orphanet_250932 Label: Autosomal dominant optic atrophy and peripheral neuropathy - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'disease' - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_68334 Label: Rare hemorrhagic disorder due to a constitutional coagulation factors defect - 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79076 Label: Juvenile polyposis of infancy - 'Juvenile polyposis of infancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Juvenile polyposis of infancy' SubClassOf 'part_of' some 'Juvenile polyposis syndrome' - 'Juvenile polyposis of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Juvenile polyposis of infancy' SubClassOf 'clinical subtype' - 'Juvenile polyposis of infancy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile polyposis of infancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Juvenile polyposis of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile polyposis of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juvenile polyposis of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juvenile polyposis of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile polyposis of infancy' SubClassOf 'clinical subtype' + 'Juvenile polyposis of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile polyposis syndrome' + 'Juvenile polyposis of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_118532 Label: sodium channel, non-voltage-gated 1 alpha subunit - 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' - 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf 'gene' - 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' + 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis' + 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pseudohypoaldosteronism type 1' + 'sodium channel, non-voltage-gated 1 alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_68336 Label: Rare genetic tumor - 'Rare genetic tumor' SubClassOf 'group of disorders' + 'Rare genetic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79078 Label: Mikulicz disease - 'Mikulicz disease' SubClassOf 'disease' - 'Mikulicz disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Mikulicz disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mikulicz disease' SubClassOf 'part_of' some 'Immunoglobulin G4-related sclerosing disease' - 'Mikulicz disease' SubClassOf 'part_of' some 'Systemic autoimmune disease' + 'Mikulicz disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunoglobulin G4-related sclerosing disease' + 'Mikulicz disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mikulicz disease' SubClassOf 'disease' + 'Mikulicz disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_68335 Label: Chromosomal anomaly - 'Chromosomal anomaly' SubClassOf 'group of disorders' + 'Chromosomal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_167742 Label: mediator complex subunit 25 - 'mediator complex subunit 25' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B2' - 'mediator complex subunit 25' SubClassOf 'gene' + 'mediator complex subunit 25' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 25' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B2' + 'mediator complex subunit 25' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123757 Label: NMDA receptor synaptonuclear signaling and neuronal migration factor - 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf 'gene' - 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'NMDA receptor synaptonuclear signaling and neuronal migration factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2950 Label: Triphalangeal thumb - polysyndactyly syndrome - 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'malformation syndrome' - 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_391376 Label: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'part_of' some 'Disorder of asparagine metabolism' - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'disease' - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of asparagine metabolism' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'disease' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2951 Label: Absent thumb - short stature - immunodeficiency - 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Absent thumb - short stature - immunodeficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Absent thumb - short stature - immunodeficiency' SubClassOf 'malformation syndrome' - 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Absent thumb - short stature - immunodeficiency' SubClassOf 'malformation syndrome' + 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Absent thumb - short stature - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Absent thumb - short stature - immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Absent thumb - short stature - immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2952 Label: Adducted thumbs - arthrogryposis, Christian type - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'malformation syndrome' - 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2953 Label: Ehlers-Danlos syndrome, musculocontractural type - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with nephropathy as a major feature' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123754 Label: neurofilament, light polypeptide - 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1F' - 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to NEFL deficiency' - 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' - 'neurofilament, light polypeptide' SubClassOf 'gene' + 'neurofilament, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1F' + 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to NEFL deficiency' + 'neurofilament, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' + 'neurofilament, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391372 Label: Intellectual disability-severe speech delay-mild dysmorphism syndrome - 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2956 Label: Prata-Liberal-Goncalves syndrome - 'Prata-Liberal-Goncalves syndrome' SubClassOf 'malformation syndrome' - 'Prata-Liberal-Goncalves syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Prata-Liberal-Goncalves syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Prata-Liberal-Goncalves syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123752 Label: neurofilament, heavy polypeptide - 'neurofilament, heavy polypeptide' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' - 'neurofilament, heavy polypeptide' SubClassOf 'gene' + 'neurofilament, heavy polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'neurofilament, heavy polypeptide' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'neurofilament, heavy polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118549 Label: succinate dehydrogenase complex, subunit A, flavoprotein (Fp) - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'gene' - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15"^^http://www.w3.org/2001/XMLSchema#string + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'succinate dehydrogenase complex, subunit A, flavoprotein (Fp)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250908 Label: Rare neoplastic disease - 'Rare neoplastic disease' SubClassOf 'group of disorders' + 'Rare neoplastic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121517 Label: elastin - 'elastin' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'elastin' SubClassOf 'gene' - 'elastin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cutis laxa' - 'elastin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Supravalvular aortic stenosis' + 'elastin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.1-q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'elastin' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'elastin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Supravalvular aortic stenosis' + 'elastin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'elastin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_308467 Label: Disorder of galactose metabolism - 'Disorder of galactose metabolism' SubClassOf 'group of disorders' + 'Disorder of galactose metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_353497 Label: guanine nucleotide binding protein (G protein), q polypeptide - 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sturge-Weber syndrome' - 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Familial multiple nevi flammei' - 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Familial multiple nevi flammei' + 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sturge-Weber syndrome' + 'guanine nucleotide binding protein (G protein), q polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118543 Label: SCO1 cytochrome c oxidase assembly protein - 'SCO1 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' - 'SCO1 cytochrome c oxidase assembly protein' SubClassOf 'gene' + 'SCO1 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' + 'SCO1 cytochrome c oxidase assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SCO1 cytochrome c oxidase assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118546 Label: SCO2 cytochrome c oxidase assembly protein - 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' - 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' - 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rare isolated myopia' - 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'gene' + 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'SCO2 cytochrome c oxidase assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' + 'SCO2 cytochrome c oxidase assembly protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rare isolated myopia' + 'SCO2 cytochrome c oxidase assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2980 Label: Acro-oto-ocular syndrome - 'Acro-oto-ocular syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Acro-oto-ocular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acro-oto-ocular syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Acro-oto-ocular syndrome' SubClassOf 'malformation syndrome' - 'Acro-oto-ocular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acro-oto-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Acro-oto-ocular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acro-oto-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Acro-oto-ocular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-oto-ocular syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123783 Label: Nance-Horan syndrome (congenital cataracts and dental anomalies) - 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'gene' - 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nance-Horan syndrome' - 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.3-p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nance-Horan syndrome' + 'Nance-Horan syndrome (congenital cataracts and dental anomalies)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' Class: http://www.orpha.net/ORDO/Orphanet_167714 Label: Unclassified acute myeloid leukemia - 'Unclassified acute myeloid leukemia' SubClassOf 'group of disorders' + 'Unclassified acute myeloid leukemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2988 Label: Pterygium colli - intellectual disability - digital anomalies - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'malformation syndrome' + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2989 Label: Pterygium of the conjunctiva, familial form - 'Pterygium of the conjunctiva, familial form' SubClassOf 'part_of' some 'Conjunctival tumor' - 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Pterygium of the conjunctiva, familial form' SubClassOf 'morphological anomaly' + 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Pterygium of the conjunctiva, familial form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conjunctival tumor' + 'Pterygium of the conjunctiva, familial form' SubClassOf 'morphological anomaly' + 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123785 Label: non imprinted in Prader-Willi/Angelman syndrome 1 - 'non imprinted in Prader-Willi/Angelman syndrome 1' SubClassOf 'gene' - 'non imprinted in Prader-Willi/Angelman syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 6' + 'non imprinted in Prader-Willi/Angelman syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'non imprinted in Prader-Willi/Angelman syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'non imprinted in Prader-Willi/Angelman syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 6' Class: http://www.orpha.net/ORDO/Orphanet_308463 Label: Disorder of fructose metabolism - 'Disorder of fructose metabolism' SubClassOf 'group of disorders' + 'Disorder of fructose metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121522 Label: ELOVL fatty acid elongase 4 - 'ELOVL fatty acid elongase 4' SubClassOf 'gene' - 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 34' - 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' - 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' + 'ELOVL fatty acid elongase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' + 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 34' + 'ELOVL fatty acid elongase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14"^^http://www.w3.org/2001/XMLSchema#string + 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' Class: http://www.orpha.net/ORDO/Orphanet_2987 Label: Antecubital pterygium syndrome - 'Antecubital pterygium syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Antecubital pterygium syndrome' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Antecubital pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Antecubital pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Antecubital pterygium syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Antecubital pterygium syndrome' SubClassOf 'malformation syndrome' + 'Antecubital pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Antecubital pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Antecubital pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Antecubital pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Antecubital pterygium syndrome' SubClassOf 'malformation syndrome' + 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98010 Label: Infectious disease of the nervous system - 'Infectious disease of the nervous system' SubClassOf 'group of disorders' + 'Infectious disease of the nervous system' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_391366 Label: Growth retardation-mild developmental delay-chronic hepatitis syndrome - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'disease' - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_2985 Label: Pseudoprogeria syndrome - 'Pseudoprogeria syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Pseudoprogeria syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Pseudoprogeria syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudoprogeria syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pseudoprogeria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pseudoprogeria syndrome' SubClassOf 'malformation syndrome' - 'Pseudoprogeria syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Pseudoprogeria syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pseudoprogeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudoprogeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudoprogeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudoprogeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pseudoprogeria syndrome' SubClassOf 'malformation syndrome' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123789 Label: Nipped-B homolog (Drosophila) - 'Nipped-B homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some '5p13 microduplication syndrome' - 'Nipped-B homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' - 'Nipped-B homolog (Drosophila)' SubClassOf 'gene' + 'Nipped-B homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some '5p13 microduplication syndrome' + 'Nipped-B homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'Nipped-B homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Nipped-B homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2982 Label: 46,XX disorder of sex development - '46,XX disorder of sex development' SubClassOf 'group of disorders' + '46,XX disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2983 Label: Disorder of sex development - intellectual disability - 'Disorder of sex development - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Disorder of sex development - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Disorder of sex development - intellectual disability' SubClassOf 'disease' - 'Disorder of sex development - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Disorder of sex development - intellectual disability' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Disorder of sex development - intellectual disability' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Disorder of sex development - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Disorder of sex development - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Disorder of sex development - intellectual disability' SubClassOf 'disease' + 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Disorder of sex development - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Disorder of sex development - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_391348 Label: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'disease' - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'disease' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2969 Label: Proteus-like syndrome - 'Proteus-like syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Proteus-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proteus-like syndrome' SubClassOf 'disease' - 'Proteus-like syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'Proteus-like syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Proteus-like syndrome' SubClassOf 'part_of' some 'PTEN hamartoma tumor syndrome' - 'Proteus-like syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Proteus-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proteus-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proteus-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proteus-like syndrome' SubClassOf 'disease' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PTEN hamartoma tumor syndrome' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_2968 Label: Leukocyte adhesion deficiency - 'Leukocyte adhesion deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Leukocyte adhesion deficiency' SubClassOf 'disease' - 'Leukocyte adhesion deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukocyte adhesion deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukocyte adhesion deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Leukocyte adhesion deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukocyte adhesion deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukocyte adhesion deficiency' SubClassOf 'disease' + 'Leukocyte adhesion deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukocyte adhesion deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_121506 Label: eukaryotic translation initiation factor 4H - 'eukaryotic translation initiation factor 4H' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'eukaryotic translation initiation factor 4H' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_79099 Label: Interstitial granulomatous dermatitis with arthritis - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'disease' - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'has_inheritance' some 'sporadic' + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'disease' + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79098 Label: Sympathetic ophthalmia - 'Sympathetic ophthalmia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sympathetic ophthalmia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sympathetic ophthalmia' SubClassOf 'part_of' some 'Non-infectious anterior uveitis' - 'Sympathetic ophthalmia' SubClassOf 'has_inheritance' some 'sporadic' - 'Sympathetic ophthalmia' SubClassOf 'disease' + 'Sympathetic ophthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sympathetic ophthalmia' SubClassOf 'disease' + 'Sympathetic ophthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Sympathetic ophthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Sympathetic ophthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sympathetic ophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_118554 Label: succinate dehydrogenase complex, subunit B, iron sulfur (Ip) - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'gene' - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' - 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinate dehydrogenase complex, subunit B, iron sulfur (Ip)' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_79095 Label: Congenital bile acid synthesis defect type 4 - 'Congenital bile acid synthesis defect type 4' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'disease' - 'Congenital bile acid synthesis defect type 4' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Congenital bile acid synthesis defect type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital bile acid synthesis defect type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital bile acid synthesis defect type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bile acid synthesis defect type 4' SubClassOf 'disease' + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79094 Label: Grange syndrome - 'Grange syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Grange syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Grange syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Grange syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Grange syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Grange syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Grange syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Grange syndrome' SubClassOf 'malformation syndrome' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Grange syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Grange syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Grange syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Grange syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Grange syndrome' SubClassOf 'malformation syndrome' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_118558 Label: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa - 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' - 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' - 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'gene' - 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Major susceptibility factor in' some 'Gastrointestinal stromal tumor' + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79097 Label: Folinic acid-responsive seizures - 'Folinic acid-responsive seizures' SubClassOf 'part_of' some 'Metabolic disease involving other neurotransmitter deficiency' - 'Folinic acid-responsive seizures' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Folinic acid-responsive seizures' SubClassOf 'has_prevalence' some 'Unknown' - 'Folinic acid-responsive seizures' SubClassOf 'disease' - 'Folinic acid-responsive seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Folinic acid-responsive seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Folinic acid-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Folinic acid-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease involving other neurotransmitter deficiency' + 'Folinic acid-responsive seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Folinic acid-responsive seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Folinic acid-responsive seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79096 Label: Pyridoxal phosphate-responsive seizures - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'part_of' some 'Disorder of pyridoxine metabolism' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'disease' - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyridoxine metabolism' + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'disease' + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79091 Label: Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia - 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'disease' - 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'part_of' some 'Inclusion myopathy' + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'disease' + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_169186 Label: Autosomal recessive centronuclear myopathy - 'Autosomal recessive centronuclear myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of titin' - 'Autosomal recessive centronuclear myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive centronuclear myopathy' SubClassOf 'part_of' some 'Centronuclear myopathy' - 'Autosomal recessive centronuclear myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive centronuclear myopathy' SubClassOf 'disease' + 'Autosomal recessive centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of titin' + 'Autosomal recessive centronuclear myopathy' SubClassOf 'disease' + 'Autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Centronuclear myopathy' Class: http://www.orpha.net/ORDO/Orphanet_79093 Label: Foix-Alajouanine syndrome - 'Foix-Alajouanine syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Foix-Alajouanine syndrome' SubClassOf 'malformation syndrome' - 'Foix-Alajouanine syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Foix-Alajouanine syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Foix-Alajouanine syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Foix-Alajouanine syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Foix-Alajouanine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Foix-Alajouanine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Foix-Alajouanine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Foix-Alajouanine syndrome' SubClassOf 'malformation syndrome' + 'Foix-Alajouanine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_2970 Label: Prune belly syndrome - 'Prune belly syndrome' SubClassOf 'malformation syndrome' - 'Prune belly syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Prune belly syndrome' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Prune belly syndrome' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Prune belly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Prune belly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Prune belly syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Prune belly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Prune belly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Prune belly syndrome' SubClassOf 'malformation syndrome' + 'Prune belly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Prune belly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Prune belly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Prune belly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_274231 Label: male germ cell-associated kinase - 'male germ cell-associated kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'male germ cell-associated kinase' SubClassOf 'gene' + 'male germ cell-associated kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'male germ cell-associated kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'male germ cell-associated kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98004 Label: Rare immune disease - 'Rare immune disease' SubClassOf 'group of disorders' + 'Rare immune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123772 Label: neurofibromin 1 - 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' - 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' - 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' - 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome' - 'neurofibromin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' - 'neurofibromin 1' SubClassOf 'gene' + 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' + 'neurofibromin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' + 'neurofibromin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' + 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome' + 'neurofibromin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'neurofibromin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169189 Label: Autosomal dominant centronuclear myopathy - 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant centronuclear myopathy' SubClassOf 'disease' - 'Autosomal dominant centronuclear myopathy' SubClassOf 'part_of' some 'Centronuclear myopathy' - 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant centronuclear myopathy' SubClassOf 'disease' + 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Centronuclear myopathy' + 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98006 Label: Rare neurologic disease - 'Rare neurologic disease' SubClassOf 'group of disorders' + 'Rare neurologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_290568 Label: lysine (K)-specific demethylase 6A - 'lysine (K)-specific demethylase 6A' SubClassOf 'gene' - 'lysine (K)-specific demethylase 6A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' + 'lysine (K)-specific demethylase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.2"^^http://www.w3.org/2001/XMLSchema#string + 'lysine (K)-specific demethylase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysine (K)-specific demethylase 6A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2975 Label: 46,XX disorder of sex development - skeletal anomalies - '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some 'No data available' - '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'malformation syndrome' + '46,XX disorder of sex development - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'malformation syndrome' + '46,XX disorder of sex development - skeletal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '46,XX disorder of sex development - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_121511 Label: elastase, neutrophil expressed - 'elastase, neutrophil expressed' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cyclic neutropenia' - 'elastase, neutrophil expressed' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' - 'elastase, neutrophil expressed' SubClassOf 'gene' + 'elastase, neutrophil expressed' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cyclic neutropenia' + 'elastase, neutrophil expressed' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'elastase, neutrophil expressed' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' + 'elastase, neutrophil expressed' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_308473 Label: Erythrocyte galactose epimerase deficiency - 'Erythrocyte galactose epimerase deficiency' SubClassOf 'clinical subtype' - 'Erythrocyte galactose epimerase deficiency' SubClassOf 'part_of' some 'Galactose epimerase deficiency' + 'Erythrocyte galactose epimerase deficiency' SubClassOf 'clinical subtype' + 'Erythrocyte galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Galactose epimerase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2976 Label: Pseudoleprechaunism syndrome, Patterson type - 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'malformation syndrome' - 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' + 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'malformation syndrome' + 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_121513 Label: elaC ribonuclease Z 2 - 'elaC ribonuclease Z 2' SubClassOf 'gene' - 'elaC ribonuclease Z 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 17' - 'elaC ribonuclease Z 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'elaC ribonuclease Z 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'elaC ribonuclease Z 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 17' + 'elaC ribonuclease Z 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'elaC ribonuclease Z 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_391351 Label: SURF1-related Charcot-Marie-Tooth disease type 4 - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'disease' - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'disease' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2978 Label: Chronic intestinal pseudoobstruction - 'Chronic intestinal pseudoobstruction' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chronic intestinal pseudoobstruction' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Chronic intestinal pseudoobstruction' SubClassOf 'clinical syndrome' - 'Chronic intestinal pseudoobstruction' SubClassOf 'has_prevalence' some 'Unknown' + 'Chronic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Chronic intestinal pseudoobstruction' SubClassOf 'clinical syndrome' + 'Chronic intestinal pseudoobstruction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_123774 Label: neurofibromin 2 (merlin) - 'neurofibromin 2 (merlin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 2' - 'neurofibromin 2 (merlin)' SubClassOf 'gene' - 'neurofibromin 2 (merlin)' SubClassOf 'Modifying somatic mutation in' some 'Neurofibromatosis type 3' + 'neurofibromin 2 (merlin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurofibromin 2 (merlin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 2' + 'neurofibromin 2 (merlin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'neurofibromin 2 (merlin)' SubClassOf 'Modifying somatic mutation in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_2971 Label: Peroxisomal acyl-CoA oxidase deficiency - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'part_of' some 'Peroxisomal beta-oxidation disorder' - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disease' - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disease' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal beta-oxidation disorder' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_123779 Label: NHL repeat containing E3 ubiquitin protein ligase 1 - 'NHL repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'gene' - 'NHL repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lafora disease' + 'NHL repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'NHL repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lafora disease' + 'NHL repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_209867 Label: Autosomal dominant rhegmatogenous retinal detachment - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'disease' + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'disease' + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' Class: http://www.orpha.net/ORDO/Orphanet_2972 Label: Non-eruption of teeth - maxillary hypoplasia - genu valgum - 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'malformation syndrome' - 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'malformation syndrome' + 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2973 Label: 46,XX disorder of sex development - anorectal anomalies - '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'malformation syndrome' - '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' + '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'malformation syndrome' + '46,XX disorder of sex development - anorectal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + '46,XX disorder of sex development - anorectal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + '46,XX disorder of sex development - anorectal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_123777 Label: nerve growth factor (beta polypeptide) - 'nerve growth factor (beta polypeptide)' SubClassOf 'gene' - 'nerve growth factor (beta polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5' + 'nerve growth factor (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'nerve growth factor (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nerve growth factor (beta polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5' Class: http://www.orpha.net/ORDO/Orphanet_36273 Label: Gastric linitis plastica - 'Gastric linitis plastica' SubClassOf 'has_prevalence' some 'Unknown' - 'Gastric linitis plastica' SubClassOf 'part_of' some 'Gastric cancer' - 'Gastric linitis plastica' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gastric linitis plastica' SubClassOf 'disease' + 'Gastric linitis plastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Gastric linitis plastica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastric linitis plastica' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118567 Label: SEC63 homolog (S. cerevisiae) - 'SEC63 homolog (S. cerevisiae)' SubClassOf 'gene' - 'SEC63 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' + 'SEC63 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SEC63 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' + 'SEC63 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_169150 Label: Immunodeficiency due to a late component of complements deficiency - 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'disease' + 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'disease' + 'Immunodeficiency due to a late component of complements deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_367104 Label: macrophage stimulating 1 (hepatocyte growth factor-like) - 'macrophage stimulating 1 (hepatocyte growth factor-like)' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' - 'macrophage stimulating 1 (hepatocyte growth factor-like)' SubClassOf 'gene' + 'macrophage stimulating 1 (hepatocyte growth factor-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'macrophage stimulating 1 (hepatocyte growth factor-like)' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' + 'macrophage stimulating 1 (hepatocyte growth factor-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118565 Label: Sec23 homolog A (S. cerevisiae) - 'Sec23 homolog A (S. cerevisiae)' SubClassOf 'gene' - 'Sec23 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniolenticulosutural dysplasia' + 'Sec23 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'Sec23 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Sec23 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniolenticulosutural dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_201570 Label: SAM domain and HD domain 1 - 'SAM domain and HD domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chilblain lupus' - 'SAM domain and HD domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'SAM domain and HD domain 1' SubClassOf 'gene' + 'SAM domain and HD domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chilblain lupus' + 'SAM domain and HD domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'SAM domain and HD domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'SAM domain and HD domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_209893 Label: Congenital isolated thyroxine-binding globulin deficiency - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'part_of' some 'Rare thyroid disease' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'disease' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'part_of' some 'Rare genetic thyroid disease' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thyroid disease' + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'disease' + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic thyroid disease' + 'Congenital isolated thyroxine-binding globulin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "46.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_367100 Label: G protein-coupled receptor 35 - 'G protein-coupled receptor 35' SubClassOf 'gene' - 'G protein-coupled receptor 35' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' + 'G protein-coupled receptor 35' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' + 'G protein-coupled receptor 35' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor 35' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_314647 Label: Non-progressive cerebellar ataxia with intellectual disability - 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'disease' + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'disease' + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_227796 Label: Fundus albipunctatus - 'Fundus albipunctatus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fundus albipunctatus' SubClassOf 'has_prevalence' some 'Unknown' - 'Fundus albipunctatus' SubClassOf 'part_of' some 'Familial flecked retinopathy' - 'Fundus albipunctatus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fundus albipunctatus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fundus albipunctatus' SubClassOf 'disease' + 'Fundus albipunctatus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fundus albipunctatus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fundus albipunctatus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fundus albipunctatus' SubClassOf 'disease' + 'Fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' Class: http://www.orpha.net/ORDO/Orphanet_123716 Label: N-myc downstream regulated 1 - 'N-myc downstream regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4D' - 'N-myc downstream regulated 1' SubClassOf 'gene' + 'N-myc downstream regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4D' + 'N-myc downstream regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-myc downstream regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308448 Label: Aminoacylase deficiency - 'Aminoacylase deficiency' SubClassOf 'group of disorders' + 'Aminoacylase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123723 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 2' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_391343 Label: Fatal post-viral neurodegenerative disorder - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'disease' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Brain inflammatory disease' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fatal post-viral neurodegenerative disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_308442 Label: Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'clinical subtype' - 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'part_of' some 'Vitamin B12-responsive methylmalonic acidemia' + 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-responsive methylmalonic acidemia' + 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_370088 Label: Acute infantile liver failure-multisystemic involvement syndrome - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'disease' + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169157 Label: T-B+ severe combined immunodeficiency due to CD45 deficiency - 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' - 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'disease' + 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'disease' + 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_118561 Label: succinate dehydrogenase complex, subunit D, integral membrane protein - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Major susceptibility factor in' some 'Carcinoid tumor and carcinoid syndrome' - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'gene' - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' - 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Major susceptibility factor in' some 'Carcinoid tumor and carcinoid syndrome' + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated succinate-CoQ reductase deficiency' + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pheochromocytoma-paraganglioma' + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169154 Label: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'disease' - 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169160 Label: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'disease' - 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'disease' + 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_201567 Label: translational activator of mitochondrially encoded cytochrome c oxidase I - 'translational activator of mitochondrially encoded cytochrome c oxidase I' SubClassOf 'gene' - 'translational activator of mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'translational activator of mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'translational activator of mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'translational activator of mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_314655 Label: 5q31.3 microdeletion syndrome - '5q31.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '5q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' - '5q31.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '5q31.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '5q31.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '5q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '5q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '5q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '5q31.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '5q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '5q31.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5q31.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '5q31.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '5q31.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '5q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_314652 Label: Autosomal dominant beta2-microglobulinic amyloidosis - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'disease' - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'disease' + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_391327 Label: X-linked calvarial hyperostosis - 'X-linked calvarial hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'X-linked calvarial hyperostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked calvarial hyperostosis' SubClassOf 'disease' - 'X-linked calvarial hyperostosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked calvarial hyperostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked calvarial hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'X-linked calvarial hyperostosis' SubClassOf 'disease' + 'X-linked calvarial hyperostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked calvarial hyperostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked calvarial hyperostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked calvarial hyperostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_227786 Label: Familial flecked retinopathy - 'Familial flecked retinopathy' SubClassOf 'group of disorders' + 'Familial flecked retinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201560 Label: ribonuclease T2 - 'ribonuclease T2' SubClassOf 'gene' - 'ribonuclease T2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystic leukoencephalopathy without megalencephaly' + 'ribonuclease T2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribonuclease T2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'ribonuclease T2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystic leukoencephalopathy without megalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_223447 Label: plasminogen activator, urokinase - 'plasminogen activator, urokinase' SubClassOf 'gene' - 'plasminogen activator, urokinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Quebec platelet disorder' + 'plasminogen activator, urokinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'plasminogen activator, urokinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plasminogen activator, urokinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Quebec platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_308459 Label: Disorder of glycolysis - 'Disorder of glycolysis' SubClassOf 'group of disorders' + 'Disorder of glycolysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_82004 Label: Ehlers-Danlos syndrome with periventricular heterotopia - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'disease' - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'disease' + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_309505 Label: Disorder of fucoglycosan synthesis - 'Disorder of fucoglycosan synthesis' SubClassOf 'group of disorders' + 'Disorder of fucoglycosan synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2994 Label: Short stature - craniofacial anomalies - genital hypoplasia - 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'malformation syndrome' + 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294689 Label: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A - 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A' SubClassOf 'gene' - 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391330 Label: X-linked osteoporosis with fractures - 'X-linked osteoporosis with fractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked osteoporosis with fractures' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'X-linked osteoporosis with fractures' SubClassOf 'disease' - 'X-linked osteoporosis with fractures' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked osteoporosis with fractures' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'X-linked osteoporosis with fractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked osteoporosis with fractures' SubClassOf 'disease' + 'X-linked osteoporosis with fractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked osteoporosis with fractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'X-linked osteoporosis with fractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123713 Label: Norrie disease (pseudoglioma) - 'Norrie disease (pseudoglioma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' - 'Norrie disease (pseudoglioma)' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' - 'Norrie disease (pseudoglioma)' SubClassOf 'Candidate gene tested in' some 'Coats disease' - 'Norrie disease (pseudoglioma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'Norrie disease (pseudoglioma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Norrie disease' - 'Norrie disease (pseudoglioma)' SubClassOf 'gene' + 'Norrie disease (pseudoglioma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' + 'Norrie disease (pseudoglioma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Norrie disease (pseudoglioma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.3"^^http://www.w3.org/2001/XMLSchema#string + 'Norrie disease (pseudoglioma)' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' + 'Norrie disease (pseudoglioma)' SubClassOf 'Candidate gene tested in' some 'Coats disease' + 'Norrie disease (pseudoglioma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Norrie disease' + 'Norrie disease (pseudoglioma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_391333 Label: tenascin C - 'tenascin C' SubClassOf 'gene' - 'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'tenascin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'tenascin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_370091 Label: Oculocutaneous albinism type 5 - 'Oculocutaneous albinism type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculocutaneous albinism type 5' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 5' SubClassOf 'disease' - 'Oculocutaneous albinism type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Oculocutaneous albinism type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2995 Label: Baraitser-Winter syndrome - 'Baraitser-Winter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Baraitser-Winter syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Baraitser-Winter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Baraitser-Winter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Baraitser-Winter syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Baraitser-Winter syndrome' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Baraitser-Winter syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Baraitser-Winter syndrome' SubClassOf 'malformation syndrome' + 'Baraitser-Winter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Baraitser-Winter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Baraitser-Winter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Baraitser-Winter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Baraitser-Winter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Baraitser-Winter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' + 'Baraitser-Winter syndrome' SubClassOf 'malformation syndrome' + 'Baraitser-Winter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Baraitser-Winter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_308451 Label: Disorder of neutral amino acid transport - 'Disorder of neutral amino acid transport' SubClassOf 'group of disorders' + 'Disorder of neutral amino acid transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123710 Label: necdin, melanoma antigen (MAGE) family member - 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' - 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' - 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' - 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' - 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'gene' + 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'necdin, melanoma antigen (MAGE) family member' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'necdin, melanoma antigen (MAGE) family member' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'necdin, melanoma antigen (MAGE) family member' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' + 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'necdin, melanoma antigen (MAGE) family member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' Class: http://www.orpha.net/ORDO/Orphanet_2997 Label: Ptosis - vocal cord paralysis - 'Ptosis - vocal cord paralysis' SubClassOf 'part_of' some 'Ptosis' - 'Ptosis - vocal cord paralysis' SubClassOf 'malformation syndrome' + 'Ptosis - vocal cord paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Ptosis - vocal cord paralysis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209886 Label: Familial juvenile hyperuricemic nephropathy type 1 - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'disease' - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2999 Label: Ptosis - strabismus - ectopic pupils - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'part_of' some 'Ptosis' - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'malformation syndrome' - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ptosis - strabismus - ectopic pupils' SubClassOf 'malformation syndrome' + 'Ptosis - strabismus - ectopic pupils' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ptosis - strabismus - ectopic pupils' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ptosis - strabismus - ectopic pupils' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ptosis - strabismus - ectopic pupils' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_370097 Label: Oculocutaneous albinism type 6 - 'Oculocutaneous albinism type 6' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 6' SubClassOf 'disease' - 'Oculocutaneous albinism type 6' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculocutaneous albinism type 6' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Oculocutaneous albinism type 6' SubClassOf 'disease' + 'Oculocutaneous albinism type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_28455 Label: Pancreatic beta cell agenesis with neonatal diabetes mellitus - 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' - 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'disease' + 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 1' + 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2990 Label: Autosomal recessive multiple pterygium syndrome - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple pterygium syndrome' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'malformation syndrome' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'malformation syndrome' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple pterygium syndrome' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_169163 Label: Familial scaphocephaly syndrome - 'Familial scaphocephaly syndrome' SubClassOf 'group of disorders' + 'Familial scaphocephaly syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_84271 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'clinical syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Idiopathic nephrotic syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'clinical syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_35121 Label: Acid phosphatase deficiency - 'Acid phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acid phosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acid phosphatase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acid phosphatase deficiency' SubClassOf 'disease' - 'Acid phosphatase deficiency' SubClassOf 'part_of' some 'Lysosomal disease' + 'Acid phosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acid phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acid phosphatase deficiency' SubClassOf 'disease' + 'Acid phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acid phosphatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acid phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease' Class: http://www.orpha.net/ORDO/Orphanet_35120 Label: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_260588 Label: origin recognition complex, subunit 1 - 'origin recognition complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' - 'origin recognition complex, subunit 1' SubClassOf 'gene' + 'origin recognition complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'origin recognition complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' + 'origin recognition complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_35122 Label: Congenital sucrase-isomaltase deficiency - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'disease' + 'Congenital sucrase-isomaltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital sucrase-isomaltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital sucrase-isomaltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314621 Label: Duplication of the pituitary gland - 'Duplication of the pituitary gland' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Duplication of the pituitary gland' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Duplication of the pituitary gland' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Duplication of the pituitary gland' SubClassOf 'morphological anomaly' - 'Duplication of the pituitary gland' SubClassOf 'has_inheritance' some 'sporadic' - 'Duplication of the pituitary gland' SubClassOf 'part_of' some 'Midline cerebral malformation' + 'Duplication of the pituitary gland' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Duplication of the pituitary gland' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Duplication of the pituitary gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Duplication of the pituitary gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Duplication of the pituitary gland' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Midline cerebral malformation' + 'Duplication of the pituitary gland' SubClassOf 'morphological anomaly' + 'Duplication of the pituitary gland' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_123738 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_201595 Label: pyrroline-5-carboxylate reductase 1 - 'pyrroline-5-carboxylate reductase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 2B' - 'pyrroline-5-carboxylate reductase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PYCR1-related De Barsy syndrome' - 'pyrroline-5-carboxylate reductase 1' SubClassOf 'gene' - 'pyrroline-5-carboxylate reductase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' + 'pyrroline-5-carboxylate reductase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'pyrroline-5-carboxylate reductase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive cutis laxa type 2B' + 'pyrroline-5-carboxylate reductase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PYCR1-related De Barsy syndrome' + 'pyrroline-5-carboxylate reductase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' + 'pyrroline-5-carboxylate reductase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_314629 Label: CLN11 disease - 'CLN11 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN11 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN11 disease' SubClassOf 'etiological subtype' - 'CLN11 disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLN11 disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'CLN11 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLN11 disease' SubClassOf 'etiological subtype' + 'CLN11 disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLN11 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN11 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_35125 Label: Epidermal nevus syndrome - 'Epidermal nevus syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'Epidermal nevus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Epidermal nevus syndrome' SubClassOf 'disease' - 'Epidermal nevus syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermal nevus syndrome' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' - 'Epidermal nevus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Epidermal nevus syndrome' SubClassOf 'disease' + 'Epidermal nevus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'Epidermal nevus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermal nevus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_308425 Label: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'disease' - 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'part_of' some 'Methylmalonic acidemia without homocystinuria' + 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'disease' + 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia without homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_391316 Label: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'disease' - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'disease' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_36258 Label: Buerger disease - 'Buerger disease' SubClassOf 'disease' - 'Buerger disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Buerger disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Buerger disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Buerger disease' SubClassOf 'part_of' some 'Rare vascular disease' - 'Buerger disease' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' + 'Buerger disease' SubClassOf 'disease' + 'Buerger disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Buerger disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Buerger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Buerger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_294681 Label: minichromosome maintenance complex component 4 - 'minichromosome maintenance complex component 4' SubClassOf 'gene' - 'minichromosome maintenance complex component 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' + 'minichromosome maintenance complex component 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'minichromosome maintenance complex component 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'minichromosome maintenance complex component 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_169139 Label: Transient hypogammaglobulinemia of infancy - 'Transient hypogammaglobulinemia of infancy' SubClassOf 'disease' - 'Transient hypogammaglobulinemia of infancy' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' + 'Transient hypogammaglobulinemia of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency predominantly affecting antibody production' + 'Transient hypogammaglobulinemia of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123743 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123745 Label: NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa - 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_391320 Label: East Texas bleeding disorder - 'East Texas bleeding disorder' SubClassOf 'disease' - 'East Texas bleeding disorder' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'East Texas bleeding disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'East Texas bleeding disorder' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'East Texas bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'East Texas bleeding disorder' SubClassOf 'disease' + 'East Texas bleeding disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'East Texas bleeding disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123747 Label: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa - 'NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_406879 Label: glutaminyl-tRNA synthetase - 'glutaminyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' - 'glutaminyl-tRNA synthetase' SubClassOf 'gene' + 'glutaminyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'glutaminyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' + 'glutaminyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370068 Label: Fetal anticonvulsant syndrome - 'Fetal anticonvulsant syndrome' SubClassOf 'group of disorders' + 'Fetal anticonvulsant syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_260595 Label: glycerate kinase - 'glycerate kinase' SubClassOf 'gene' - 'glycerate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-glyceric aciduria' + 'glycerate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'glycerate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-glyceric aciduria' + 'glycerate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370064 Label: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4' SubClassOf 'gene' + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3-q34"^^http://www.w3.org/2001/XMLSchema#string + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_314632 Label: Parkinsonim due to ATP13A2 deficiency - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'disease' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'disease' + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_118596 Label: selenoprotein N, 1 - 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' - 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmin-related myopathy with Mallory body-like inclusions' - 'selenoprotein N, 1' SubClassOf 'gene' - 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rigid spine syndrome' + 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' + 'selenoprotein N, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.13"^^http://www.w3.org/2001/XMLSchema#string + 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmin-related myopathy with Mallory body-like inclusions' + 'selenoprotein N, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rigid spine syndrome' + 'selenoprotein N, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406882 Label: SET domain containing 5 - 'SET domain containing 5' SubClassOf 'gene' - 'SET domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' + 'SET domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' + 'SET domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SET domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_260599 Label: collectin sub-family member 11 - 'collectin sub-family member 11' SubClassOf 'gene' - 'collectin sub-family member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' + 'collectin sub-family member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collectin sub-family member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' + 'collectin sub-family member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_201587 Label: fibroblast growth factor 9 - 'fibroblast growth factor 9' SubClassOf 'gene' - 'fibroblast growth factor 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' + 'fibroblast growth factor 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201589 Label: hepatocyte growth factor (hepapoietin A; scatter factor) - 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf 'gene' + 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123729 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123727 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_314637 Label: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'disease' - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_353460 Label: tetratricopeptide repeat domain 7A - 'tetratricopeptide repeat domain 7A' SubClassOf 'gene' - 'tetratricopeptide repeat domain 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' - 'tetratricopeptide repeat domain 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple intestinal atresia' + 'tetratricopeptide repeat domain 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive early-onset inflammatory bowel disease' + 'tetratricopeptide repeat domain 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat domain 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetratricopeptide repeat domain 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple intestinal atresia' Class: http://www.orpha.net/ORDO/Orphanet_391307 Label: Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123731 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.11"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123736 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.33"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_391311 Label: Susceptibility to viral and mycobacterial infections - 'Susceptibility to viral and mycobacterial infections' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Susceptibility to viral and mycobacterial infections' SubClassOf 'disease' - 'Susceptibility to viral and mycobacterial infections' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Susceptibility to viral and mycobacterial infections' SubClassOf 'disease' + 'Susceptibility to viral and mycobacterial infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Susceptibility to viral and mycobacterial infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_123733 Label: NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) - 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.1"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_370079 Label: Proximal 16p11.2 microduplication syndrome - 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' - 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'malformation syndrome' - 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' + 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118590 Label: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E - 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E' SubClassOf 'gene' - 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHARGE syndrome' + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHARGE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_406889 Label: zona pellucida glycoprotein 1 (sperm receptor) - 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Female infertility due to zona pellucida defect' - 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf 'gene' + 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Female infertility due to zona pellucida defect' + 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169142 Label: Recurrent infection due to specific granule deficiency - 'Recurrent infection due to specific granule deficiency' SubClassOf 'disease' - 'Recurrent infection due to specific granule deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recurrent infection due to specific granule deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Recurrent infection due to specific granule deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Recurrent infection due to specific granule deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recurrent infection due to specific granule deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recurrent infection due to specific granule deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recurrent infection due to specific granule deficiency' SubClassOf 'disease' + 'Recurrent infection due to specific granule deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_169147 Label: Immunodeficiency due to an early component of complement deficiency - 'Immunodeficiency due to an early component of complement deficiency' SubClassOf 'disease' - 'Immunodeficiency due to an early component of complement deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency due to an early component of complement deficiency' SubClassOf 'disease' + 'Immunodeficiency due to an early component of complement deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_406885 Label: N-glycanase 1 - 'N-glycanase 1' SubClassOf 'gene' - 'N-glycanase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alacrimia-choreoathetosis-liver dysfunction syndrome' + 'N-glycanase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-glycanase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p23"^^http://www.w3.org/2001/XMLSchema#string + 'N-glycanase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Alacrimia-choreoathetosis-liver dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370076 Label: Fetal carbamazepine syndrome - 'Fetal carbamazepine syndrome' SubClassOf 'part_of' some 'Fetal anticonvulsant syndrome' - 'Fetal carbamazepine syndrome' SubClassOf 'disease' + 'Fetal carbamazepine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fetal anticonvulsant syndrome' + 'Fetal carbamazepine syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_370059 Label: NEVADA syndrome - 'NEVADA syndrome' SubClassOf 'disease' - 'NEVADA syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'NEVADA syndrome' SubClassOf 'disease' + 'NEVADA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_51608 Label: Generalized arterial calcification of infancy - 'Generalized arterial calcification of infancy' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized arterial calcification of infancy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized arterial calcification of infancy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized arterial calcification of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized arterial calcification of infancy' SubClassOf 'disease' - 'Generalized arterial calcification of infancy' SubClassOf 'part_of' some 'Rare genetic vascular disease' + 'Generalized arterial calcification of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Generalized arterial calcification of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized arterial calcification of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized arterial calcification of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized arterial calcification of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic vascular disease' + 'Generalized arterial calcification of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352309 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'group of disorders' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370052 Label: SCALP syndrome - 'SCALP syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'SCALP syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SCALP syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'SCALP syndrome' SubClassOf 'disease' + 'SCALP syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SCALP syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'SCALP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'SCALP syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352306 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'group of disorders' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121577 Label: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) - 'epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)' SubClassOf 'gene' - 'epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lafora disease' + 'epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24"^^http://www.w3.org/2001/XMLSchema#string + 'epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lafora disease' + 'epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121574 Label: epoxide hydrolase 1, microsomal (xenobiotic) - 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf 'gene' - 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' - 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf 'Major susceptibility factor in' some 'Fetal hydantoin syndrome' + 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string + 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' + 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'epoxide hydrolase 1, microsomal (xenobiotic)' SubClassOf 'Major susceptibility factor in' some 'Fetal hydantoin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119948 Label: TATA box binding protein - 'TATA box binding protein' SubClassOf 'gene' - 'TATA box binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 17' + 'TATA box binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TATA box binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'TATA box binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 17' Class: http://www.orpha.net/ORDO/Orphanet_391408 Label: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 2' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'disease' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'disease' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 2' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_352312 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'group of disorders' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264724 Label: Langerhans cell histiocytosis specific to childhood - 'Langerhans cell histiocytosis specific to childhood' SubClassOf 'group of disorders' + 'Langerhans cell histiocytosis specific to childhood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119944 Label: transducin (beta)-like 2 - 'transducin (beta)-like 2' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'transducin (beta)-like 2' SubClassOf 'gene' + 'transducin (beta)-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'transducin (beta)-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transducin (beta)-like 2' SubClassOf 'Candidate gene tested in' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370046 Label: Didymosis aplasticosebacea - 'Didymosis aplasticosebacea' SubClassOf 'has_inheritance' some 'sporadic' - 'Didymosis aplasticosebacea' SubClassOf 'part_of' some 'Rare nevus' - 'Didymosis aplasticosebacea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Didymosis aplasticosebacea' SubClassOf 'disease' + 'Didymosis aplasticosebacea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Didymosis aplasticosebacea' SubClassOf 'disease' + 'Didymosis aplasticosebacea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Didymosis aplasticosebacea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121581 Label: erythropoietin receptor - 'erythropoietin receptor' SubClassOf 'gene' - 'erythropoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary familial polycythemia' + 'erythropoietin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary familial polycythemia' + 'erythropoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'erythropoietin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_264745 Label: Secondary interstitial lung disease specific to adulthood associated with a systemic disease - 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121583 Label: ELKS/RAB6-interacting/CAST family member 1 - 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf 'gene' - 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 12p' + 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ELKS/RAB6-interacting/CAST family member 1' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 12p' Class: http://www.orpha.net/ORDO/Orphanet_264740 Label: Primary interstitial lung disease specific to adulthood - 'Primary interstitial lung disease specific to adulthood' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_163528 Label: Acute cutaneous lupus erythematosus - 'Acute cutaneous lupus erythematosus' SubClassOf 'group of disorders' + 'Acute cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute cutaneous lupus erythematosus' SubClassOf 'group of disorders' + 'Acute cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_163525 Label: Subacute cutaneous lupus erythematosus - 'Subacute cutaneous lupus erythematosus' SubClassOf 'disease' - 'Subacute cutaneous lupus erythematosus' SubClassOf 'part_of' some 'Cutaneous lupus erythematosus' + 'Subacute cutaneous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous lupus erythematosus' + 'Subacute cutaneous lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Subacute cutaneous lupus erythematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391411 Label: Atypical juvenile parkinsonism - 'Atypical juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Atypical juvenile parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atypical juvenile parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical juvenile parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Atypical juvenile parkinsonism' SubClassOf 'disease' + 'Atypical juvenile parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical juvenile parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical juvenile parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Atypical juvenile parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical juvenile parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical juvenile parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Atypical juvenile parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163531 Label: Chronic cutaneous lupus erythematosus - 'Chronic cutaneous lupus erythematosus' SubClassOf 'group of disorders' + 'Chronic cutaneous lupus erythematosus' SubClassOf 'group of disorders' + 'Chronic cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chronic cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chronic cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Chronic cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic cutaneous lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_119938 Label: tubulin folding cofactor E - 'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanjad-Sakati syndrome' - 'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Kenny-Caffey syndrome' - 'tubulin folding cofactor E' SubClassOf 'gene' + 'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanjad-Sakati syndrome' + 'tubulin folding cofactor E' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin folding cofactor E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.3"^^http://www.w3.org/2001/XMLSchema#string + 'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Kenny-Caffey syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391417 Label: HSD10 disease - 'HSD10 disease' SubClassOf 'disease' - 'HSD10 disease' SubClassOf 'part_of' some 'Cerebral organic aciduria' - 'HSD10 disease' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'HSD10 disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'HSD10 disease' SubClassOf 'has_inheritance' some 'x linked recessive' + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral organic aciduria' + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'HSD10 disease' SubClassOf 'disease' + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'HSD10 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_370039 Label: Angora hair nevus - 'Angora hair nevus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angora hair nevus' SubClassOf 'has_inheritance' some 'sporadic' - 'Angora hair nevus' SubClassOf 'disease' - 'Angora hair nevus' SubClassOf 'part_of' some 'Rare nevus' - 'Angora hair nevus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Angora hair nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Angora hair nevus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angora hair nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Angora hair nevus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Angora hair nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Angora hair nevus' SubClassOf 'disease' + 'Angora hair nevus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_352301 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'group of disorders' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119930 Label: tafazzin - 'tafazzin' SubClassOf 'gene' - 'tafazzin' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'tafazzin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Barth syndrome' - 'tafazzin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'tafazzin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tafazzin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Barth syndrome' + 'tafazzin' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'tafazzin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'tafazzin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_264735 Label: Interstitial lung disease specific to adulthood - 'Interstitial lung disease specific to adulthood' SubClassOf 'group of disorders' + 'Interstitial lung disease specific to adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121590 Label: excision repair cross-complementation group 2 - 'excision repair cross-complementation group 2' SubClassOf 'gene' - 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' - 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group D' - 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' + 'excision repair cross-complementation group 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group D' + 'excision repair cross-complementation group 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370034 Label: Familial syringomyelia - 'Familial syringomyelia' SubClassOf 'part_of' some 'Rare genetic medullar disease' - 'Familial syringomyelia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial syringomyelia' SubClassOf 'clinical subtype' - 'Familial syringomyelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial syringomyelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial syringomyelia' SubClassOf 'part_of' some 'Primary syringomyelia' + 'Familial syringomyelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic medullar disease' + 'Familial syringomyelia' SubClassOf 'clinical subtype' + 'Familial syringomyelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary syringomyelia' + 'Familial syringomyelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial syringomyelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121595 Label: excision repair cross-complementation group 4 - 'excision repair cross-complementation group 4' SubClassOf 'gene' - 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 1' - 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group F' + 'excision repair cross-complementation group 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 1' + 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'excision repair cross-complementation group 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group F' + 'excision repair cross-complementation group 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171929 Label: Trisomy 10p - 'Trisomy 10p' SubClassOf 'has_prevalence' some 'Unknown' - 'Trisomy 10p' SubClassOf 'malformation syndrome' - 'Trisomy 10p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 10' + 'Trisomy 10p' SubClassOf 'malformation syndrome' + 'Trisomy 10p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_121599 Label: excision repair cross-complementation group 6 - 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' - 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' - 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 1' - 'excision repair cross-complementation group 6' SubClassOf 'gene' - 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 3' - 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' + 'excision repair cross-complementation group 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cockayne syndrome type 1' + 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' + 'excision repair cross-complementation group 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cockayne syndrome type 2' + 'excision repair cross-complementation group 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' + 'excision repair cross-complementation group 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cockayne syndrome type 3' Class: http://www.orpha.net/ORDO/Orphanet_403591 Label: cyclin O - 'cyclin O' SubClassOf 'gene' - 'cyclin O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'cyclin O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'cyclin O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119968 Label: T-box 5 - 'T-box 5' SubClassOf 'gene' - 'T-box 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holt-Oram syndrome' + 'T-box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holt-Oram syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293181 Label: Malignant migrating partial seizures of infancy - 'Malignant migrating partial seizures of infancy' SubClassOf 'part_of' some 'Channelopathy with epilepsy' - 'Malignant migrating partial seizures of infancy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Malignant migrating partial seizures of infancy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Malignant migrating partial seizures of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Malignant migrating partial seizures of infancy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Malignant migrating partial seizures of infancy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Malignant migrating partial seizures of infancy' SubClassOf 'disease' + 'Malignant migrating partial seizures of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Malignant migrating partial seizures of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Malignant migrating partial seizures of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Malignant migrating partial seizures of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' + 'Malignant migrating partial seizures of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Malignant migrating partial seizures of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Channelopathy with epilepsy' + 'Malignant migrating partial seizures of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Malignant migrating partial seizures of infancy' SubClassOf 'disease' + 'Malignant migrating partial seizures of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119966 Label: T-box 4 - 'T-box 4' SubClassOf 'Role in the phenotype of' some 'Familial clubfoot due to 17q23.1q23.2 microduplication' - 'T-box 4' SubClassOf 'gene' - 'T-box 4' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' - 'T-box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' - 'T-box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coxopodopatellar syndrome' + 'T-box 4' SubClassOf 'Role in the phenotype of' some 'Familial clubfoot due to 17q23.1q23.2 microduplication' + 'T-box 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 4' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' + 'T-box 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'T-box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coxopodopatellar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_264704 Label: Secondary interstitial lung disease specific to childhood associated with a connective tissue disease - 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119961 Label: T-box 3 - 'T-box 3' SubClassOf 'gene' - 'T-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ulnar-mammary syndrome' + 'T-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.21"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ulnar-mammary syndrome' Class: http://www.orpha.net/ORDO/Orphanet_264709 Label: Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis - 'Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370022 Label: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'disease' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'disease' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_370026 Label: Acute myeloid leukemia with t(8;16)(p11;p13) translocation - 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' SubClassOf 'disease' + 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_53739 Label: Distal hereditary motor neuropathy - 'Distal hereditary motor neuropathy' SubClassOf 'group of disorders' + 'Distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123701 Label: neutrophil cytosolic factor 2 - 'neutrophil cytosolic factor 2' SubClassOf 'gene' - 'neutrophil cytosolic factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'neutrophil cytosolic factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neutrophil cytosolic factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'neutrophil cytosolic factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2900 Label: Leri pleonosteosis - 'Leri pleonosteosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Leri pleonosteosis' SubClassOf 'malformation syndrome' - 'Leri pleonosteosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leri pleonosteosis' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Leri pleonosteosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Leri pleonosteosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Leri pleonosteosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leri pleonosteosis' SubClassOf 'malformation syndrome' + 'Leri pleonosteosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leri pleonosteosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leri pleonosteosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_2901 Label: Neuralgic amyotrophy - 'Neuralgic amyotrophy' SubClassOf 'has_prevalence' some '6-9 / 10 000' - 'Neuralgic amyotrophy' SubClassOf 'disease' - 'Neuralgic amyotrophy' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' - 'Neuralgic amyotrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuralgic amyotrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuralgic amyotrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Neuralgic amyotrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) + 'Neuralgic amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuralgic amyotrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Neuralgic amyotrophy' SubClassOf 'disease' + 'Neuralgic amyotrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuralgic amyotrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuralgic amyotrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuralgic amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired peripheral neuropathy' + 'Neuralgic amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_293199 Label: Pleomorphic rhabdomyosarcoma - 'Pleomorphic rhabdomyosarcoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pleomorphic rhabdomyosarcoma' SubClassOf 'disease' - 'Pleomorphic rhabdomyosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Pleomorphic rhabdomyosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pleomorphic rhabdomyosarcoma' SubClassOf 'disease' + 'Pleomorphic rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Pleomorphic rhabdomyosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) Class: http://www.orpha.net/ORDO/Orphanet_119959 Label: T-box 22 - 'T-box 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abruzzo-Erickson syndrome' - 'T-box 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked cleft palate and ankyloglossia' - 'T-box 22' SubClassOf 'gene' + 'T-box 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abruzzo-Erickson syndrome' + 'T-box 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked cleft palate and ankyloglossia' + 'T-box 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_304005 Label: tubulin, gamma complex associated protein 6 - 'tubulin, gamma complex associated protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive chorioretinopathy-microcephaly' - 'tubulin, gamma complex associated protein 6' SubClassOf 'gene' + 'tubulin, gamma complex associated protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, gamma complex associated protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive chorioretinopathy-microcephaly' + 'tubulin, gamma complex associated protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.31-q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119955 Label: T-box 19 - 'T-box 19' SubClassOf 'gene' - 'T-box 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated ACTH deficiency' + 'T-box 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated ACTH deficiency' + 'T-box 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370019 Label: Spondylometaphyseal dysplasia, Czarny-Ratajczak type - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_264714 Label: Secondary interstitial lung disease specific to childhood associated with a granulomatous disease - 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119953 Label: T-box 1 - 'T-box 1' SubClassOf 'gene' - 'T-box 1' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' - 'T-box 1' SubClassOf 'Disease-causing germline mutation(s) in' some '22q11.2 deletion syndrome' - 'T-box 1' SubClassOf 'Role in the phenotype of' some '22q11.2 microduplication syndrome' + 'T-box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 1' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'T-box 1' SubClassOf 'Disease-causing germline mutation(s) in' some '22q11.2 deletion syndrome' + 'T-box 1' SubClassOf 'Role in the phenotype of' some '22q11.2 microduplication syndrome' + 'T-box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_264719 Label: Secondary interstitial lung disease specific to childhood associated with a metabolic disease - 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293190 Label: Pleomorphic undifferentiated sarcoma - 'Pleomorphic undifferentiated sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleomorphic undifferentiated sarcoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pleomorphic undifferentiated sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pleomorphic undifferentiated sarcoma' SubClassOf 'disease' - 'Pleomorphic undifferentiated sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Pleomorphic undifferentiated sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Pleomorphic undifferentiated sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleomorphic undifferentiated sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pleomorphic undifferentiated sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleomorphic undifferentiated sarcoma' SubClassOf 'disease' + 'Pleomorphic undifferentiated sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2912 Label: Poliomyelitis - 'Poliomyelitis' SubClassOf 'part_of' some 'Acquired motor neuron disease' - 'Poliomyelitis' SubClassOf 'disease' - 'Poliomyelitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Poliomyelitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Poliomyelitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Poliomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Poliomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Poliomyelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired motor neuron disease' + 'Poliomyelitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121536 Label: endoglin - 'endoglin' SubClassOf 'Major susceptibility factor in' some 'Familial cerebral saccular aneurysm' - 'endoglin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' - 'endoglin' SubClassOf 'Candidate gene tested in' some 'Generalized juvenile polyposis/juvenile polyposis coli' - 'endoglin' SubClassOf 'gene' + 'endoglin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string + 'endoglin' SubClassOf 'Major susceptibility factor in' some 'Familial cerebral saccular aneurysm' + 'endoglin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' + 'endoglin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'endoglin' SubClassOf 'Candidate gene tested in' some 'Generalized juvenile polyposis/juvenile polyposis coli' Class: http://www.orpha.net/ORDO/Orphanet_2911 Label: Poland syndrome - 'Poland syndrome' SubClassOf 'part_of' some 'Syndromic breast hypoplasia/aplasia' - 'Poland syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Poland syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Poland syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Poland syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Poland syndrome' SubClassOf 'malformation syndrome' - 'Poland syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Poland syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Poland syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic breast hypoplasia/aplasia' + 'Poland syndrome' SubClassOf 'malformation syndrome' + 'Poland syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Poland syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Poland syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Poland syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Poland syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Poland syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Poland syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Poland syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_121533 Label: enamelin - 'enamelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' - 'enamelin' SubClassOf 'gene' + 'enamelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' + 'enamelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'enamelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370015 Label: Spondyloepimetaphyseal dysplasia, Isidor type - 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_171901 Label: Primary cutaneous T-cell lymphoma - 'Primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' + 'Primary cutaneous T-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary cutaneous T-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary cutaneous T-cell lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370010 Label: Intellectual disability-facial dysmorphism-hand anomalies syndrome - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_357107 Label: Arterial thoracic outlet syndrome - 'Arterial thoracic outlet syndrome' SubClassOf 'clinical subtype' - 'Arterial thoracic outlet syndrome' SubClassOf 'part_of' some 'Thoracic outlet syndrome' + 'Arterial thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic outlet syndrome' + 'Arterial thoracic outlet syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_370006 Label: Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'malformation syndrome' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293165 Label: Skin fragility-woolly hair-palmoplantar keratoderma syndrome - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'disease' - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2908 Label: Kindler syndrome - 'Kindler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kindler syndrome' SubClassOf 'part_of' some 'Inherited epidermolysis bullosa' - 'Kindler syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Kindler syndrome' SubClassOf 'disease' - 'Kindler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Kindler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kindler syndrome' SubClassOf 'disease' + 'Kindler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kindler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kindler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_119902 Label: sulfite oxidase - 'sulfite oxidase' SubClassOf 'gene' - 'sulfite oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated sulfite oxidase deficiency' + 'sulfite oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated sulfite oxidase deficiency' + 'sulfite oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sulfite oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2909 Label: Rothmund-Thomson syndrome - 'Rothmund-Thomson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Hereditary poikiloderma' - 'Rothmund-Thomson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rothmund-Thomson syndrome' SubClassOf 'disease' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Dentocutaneous disease with cataract' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Rothmund-Thomson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Rothmund-Thomson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rothmund-Thomson syndrome' SubClassOf 'disease' + 'Rothmund-Thomson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentocutaneous disease with cataract' + 'Rothmund-Thomson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119904 Label: surfeit 1 - 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SURF1-related Charcot-Marie-Tooth disease type 4' - 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'surfeit 1' SubClassOf 'gene' - 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' - 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' + 'surfeit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SURF1-related Charcot-Marie-Tooth disease type 4' + 'surfeit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2907 Label: Hereditary acrokeratotic poikiloderma, Weary type - 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'part_of' some 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' - 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'clinical subtype' + 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' + 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119906 Label: synapsin I - 'synapsin I' SubClassOf 'gene' - 'synapsin I' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked epilepsy - learning disabilities - behavior disorders' + 'synapsin I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synapsin I' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked epilepsy - learning disabilities - behavior disorders' + 'synapsin I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_293168 Label: Infantile-onset ascending hereditary spastic paralysis - 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'disease' - 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'disease' + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2905 Label: POEMS syndrome - 'POEMS syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'POEMS syndrome' SubClassOf 'disease' - 'POEMS syndrome' SubClassOf 'part_of' some 'Plasma cell tumor' - 'POEMS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'POEMS syndrome' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'POEMS syndrome' SubClassOf 'part_of' some 'Hematological disease associated with an acquired peripheral neuropathy' - 'POEMS syndrome' SubClassOf 'part_of' some 'Chronic acquired demyelinating polyneuropathy' + 'POEMS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'POEMS syndrome' SubClassOf 'disease' + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disease associated with an acquired peripheral neuropathy' + 'POEMS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'POEMS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic acquired demyelinating polyneuropathy' + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' Class: http://www.orpha.net/ORDO/Orphanet_121529 Label: empty spiracles homeobox 2 - 'empty spiracles homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' - 'empty spiracles homeobox 2' SubClassOf 'gene' + 'empty spiracles homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.11"^^http://www.w3.org/2001/XMLSchema#string + 'empty spiracles homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'empty spiracles homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2902 Label: Idiopathic chronic eosinophilic pneumonia - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'part_of' some 'Rare allergic respiratory disease' - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'part_of' some 'Idiopathic eosinophilic pneumonia' - 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'disease' + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare allergic respiratory disease' + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic eosinophilic pneumonia' + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119908 Label: T, brachyury homolog (mouse) - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Chordoma' - 'T, brachyury homolog (mouse)' SubClassOf 'gene' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'T, brachyury homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T, brachyury homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Chordoma' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'T, brachyury homolog (mouse)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_121526 Label: emerin - 'emerin' SubClassOf 'gene' - 'emerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' + 'emerin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'emerin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.3-q28"^^http://www.w3.org/2001/XMLSchema#string + 'emerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2903 Label: Familial spontaneous pneumothorax - 'Familial spontaneous pneumothorax' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Familial spontaneous pneumothorax' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Familial spontaneous pneumothorax' SubClassOf 'disease' + 'Familial spontaneous pneumothorax' SubClassOf 'disease' + 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Familial spontaneous pneumothorax' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "54.64"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2921 Label: Preaxial polydactyly - colobomata - intellectual disability - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_prevalence' some 'Unknown' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'malformation syndrome' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'malformation syndrome' + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_279640 Label: myostatin - 'myostatin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myostatin-related muscle hypertrophy' - 'myostatin' SubClassOf 'gene' + 'myostatin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myostatin-related muscle hypertrophy' + 'myostatin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myostatin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2920 Label: Oliver syndrome - 'Oliver syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Oliver syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Oliver syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Oliver syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oliver syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oliver syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oliver syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Oliver syndrome' SubClassOf 'malformation syndrome' + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Oliver syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Oliver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Oliver syndrome' SubClassOf 'malformation syndrome' + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oliver syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oliver syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171918 Label: T-cell non-Hodgkin lymphoma - 'T-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'T-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_53719 Label: Wyburn-Mason syndrome - 'Wyburn-Mason syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Wyburn-Mason syndrome' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Wyburn-Mason syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Wyburn-Mason syndrome' SubClassOf 'part_of' some 'Palpebral tumor with a vascular malformation' - 'Wyburn-Mason syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Wyburn-Mason syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Wyburn-Mason syndrome' SubClassOf 'malformation syndrome' + 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor with a vascular malformation' + 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrofacial arteriovenous metameric syndrome' + 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Wyburn-Mason syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Wyburn-Mason syndrome' SubClassOf 'malformation syndrome' + 'Wyburn-Mason syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_171915 Label: B-cell non-Hodgkin lymphoma - 'B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_53715 Label: Tumoral calcinosis - 'Tumoral calcinosis' SubClassOf 'part_of' some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' - 'Tumoral calcinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tumoral calcinosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tumoral calcinosis' SubClassOf 'part_of' some 'Tumor of endocrine glands' - 'Tumoral calcinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Tumoral calcinosis' SubClassOf 'disease' - 'Tumoral calcinosis' SubClassOf 'part_of' some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' - 'Tumoral calcinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tumoral calcinosis' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Tumoral calcinosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Tumoral calcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Tumoral calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tumoral calcinosis' SubClassOf 'disease' + 'Tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of endocrine glands' + 'Tumoral calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_370002 Label: Focal palmoplantar keratoderma with joint keratoses - 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' - 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'disease' - 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_prevalence' some 'Unknown' - 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'disease' + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal palmoplantar keratoderma' + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_274222 Label: GATA binding protein 2 - 'GATA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monocytopenia with susceptibility to infections' - 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Myelodysplastic syndromes' - 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute myeloid leukemia' - 'GATA binding protein 2' SubClassOf 'gene' - 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Deafness - lymphedema - leukemia' + 'GATA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monocytopenia with susceptibility to infections' + 'GATA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute myeloid leukemia' + 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Myelodysplastic syndromes' + 'GATA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Deafness - lymphedema - leukemia' Class: http://www.orpha.net/ORDO/Orphanet_279649 Label: NOP56 ribonucleoprotein - 'NOP56 ribonucleoprotein' SubClassOf 'gene' - 'NOP56 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 36' + 'NOP56 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NOP56 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'NOP56 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 36' Class: http://www.orpha.net/ORDO/Orphanet_279644 Label: transglutaminase 6 - 'transglutaminase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' - 'transglutaminase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 35' - 'transglutaminase 6' SubClassOf 'gene' + 'transglutaminase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' + 'transglutaminase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 35' + 'transglutaminase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'transglutaminase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_274226 Label: tectonic family member 1 - 'tectonic family member 1' SubClassOf 'gene' - 'tectonic family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'tectonic family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'tectonic family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tectonic family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_327400 Label: adenylate cyclase 5 - 'adenylate cyclase 5' SubClassOf 'gene' - 'adenylate cyclase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dyskinesia and facial myokymia' + 'adenylate cyclase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'adenylate cyclase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate cyclase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dyskinesia and facial myokymia' Class: http://www.orpha.net/ORDO/Orphanet_53721 Label: Cobb syndrome - 'Cobb syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Cobb syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cobb syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cobb syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Cobb syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cobb syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Cobb syndrome' SubClassOf 'malformation syndrome' + 'Cobb syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cobb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Cobb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Cobb syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cobb syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cobb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Cobb syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2917 Label: Polydactyly-myopia syndrome - 'Polydactyly-myopia syndrome' SubClassOf 'malformation syndrome' - 'Polydactyly-myopia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polydactyly-myopia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polydactyly-myopia syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Polydactyly-myopia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polydactyly-myopia syndrome' SubClassOf 'malformation syndrome' + 'Polydactyly-myopia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly-myopia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polydactyly-myopia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polydactyly-myopia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polydactyly-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_293173 Label: Acute generalized exanthematous pustulosis - 'Acute generalized exanthematous pustulosis' SubClassOf 'part_of' some 'Toxic dermatosis' - 'Acute generalized exanthematous pustulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute generalized exanthematous pustulosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute generalized exanthematous pustulosis' SubClassOf 'disease' - 'Acute generalized exanthematous pustulosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute generalized exanthematous pustulosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute generalized exanthematous pustulosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute generalized exanthematous pustulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute generalized exanthematous pustulosis' SubClassOf 'disease' + 'Acute generalized exanthematous pustulosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute generalized exanthematous pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Acute generalized exanthematous pustulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute generalized exanthematous pustulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2919 Label: Orofaciodigital syndrome type 5 - 'Orofaciodigital syndrome type 5' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 5' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 5' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 5' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Orofaciodigital syndrome type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Orofaciodigital syndrome type 5' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Orofaciodigital syndrome type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2913 Label: Polydactyly - 'Polydactyly' SubClassOf 'group of disorders' + 'Polydactyly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2916 Label: Postaxial polydactyly - dental and vertebral anomalies - 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'malformation syndrome' - 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'malformation syndrome' + 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2930 Label: Cronkhite-Canada syndrome - 'Cronkhite-Canada syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Cronkhite-Canada syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Cronkhite-Canada syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cronkhite-Canada syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cronkhite-Canada syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cronkhite-Canada syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cronkhite-Canada syndrome' SubClassOf 'malformation syndrome' + 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Cronkhite-Canada syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cronkhite-Canada syndrome' SubClassOf 'malformation syndrome' + 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cronkhite-Canada syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_121553 Label: ectonucleotide pyrophosphatase/phosphodiesterase 1 - 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypophosphatemic rickets' - 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'gene' - 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized arterial calcification of infancy' - 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' + 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypophosphatemic rickets' + 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized arterial calcification of infancy' + 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' + 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'ectonucleotide pyrophosphatase/phosphodiesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_308393 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'etiological subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_121551 Label: enolase 3 (beta, muscle) - 'enolase 3 (beta, muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle beta-enolase deficiency' - 'enolase 3 (beta, muscle)' SubClassOf 'gene' + 'enolase 3 (beta, muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle beta-enolase deficiency' + 'enolase 3 (beta, muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'enolase 3 (beta, muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2934 Label: Polysyndactyly - cardiac malformation - 'Polysyndactyly - cardiac malformation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Polysyndactyly - cardiac malformation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polysyndactyly - cardiac malformation' SubClassOf 'malformation syndrome' - 'Polysyndactyly - cardiac malformation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polysyndactyly - cardiac malformation' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Polysyndactyly - cardiac malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polysyndactyly - cardiac malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Polysyndactyly - cardiac malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Polysyndactyly - cardiac malformation' SubClassOf 'malformation syndrome' + 'Polysyndactyly - cardiac malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polysyndactyly - cardiac malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polysyndactyly - cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polysyndactyly - cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2932 Label: Chronic inflammatory demyelinating polyneuropathy - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'part_of' some 'Chronic polyradiculoneuropathy' - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'disease' - 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic polyradiculoneuropathy' + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.61"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'disease' + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.86"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_264750 Label: Langerhans cell histiocytosis specific to adulthood - 'Langerhans cell histiocytosis specific to adulthood' SubClassOf 'group of disorders' + 'Langerhans cell histiocytosis specific to adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352328 Label: MEGDEL syndrome - 'MEGDEL syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MEGDEL syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MEGDEL syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'MEGDEL syndrome' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' - 'MEGDEL syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'MEGDEL syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'MEGDEL syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MEGDEL syndrome' SubClassOf 'disease' - 'MEGDEL syndrome' SubClassOf 'part_of' some '3-methylglutaconic aciduria' + 'MEGDEL syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MEGDEL syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MEGDEL syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MEGDEL syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MEGDEL syndrome' SubClassOf 'disease' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_167762 Label: Rare disease with dentinogenesis imperfecta - 'Rare disease with dentinogenesis imperfecta' SubClassOf 'group of disorders' + 'Rare disease with dentinogenesis imperfecta' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352333 Label: Congenital ichthyosis - intellectual disability - spastic quadriplegia - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'disease' + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'disease' + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_119922 Label: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) - 'transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' - 'transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'gene' + 'transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 1' + 'transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250831 Label: Logopenic progressive aphasia - 'Logopenic progressive aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Logopenic progressive aphasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Logopenic progressive aphasia' SubClassOf 'disease' - 'Logopenic progressive aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Logopenic progressive aphasia' SubClassOf 'part_of' some 'Primary progressive aphasia' + 'Logopenic progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Logopenic progressive aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary progressive aphasia' + 'Logopenic progressive aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Logopenic progressive aphasia' SubClassOf 'disease' + 'Logopenic progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_167759 Label: Hereditary dentin defect - 'Hereditary dentin defect' SubClassOf 'group of disorders' + 'Hereditary dentin defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304055 Label: Pituitary tumor - 'Pituitary tumor' SubClassOf 'group of disorders' + 'Pituitary tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2926 Label: Polyneuropathy - hand defect - 'Polyneuropathy - hand defect' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' - 'Polyneuropathy - hand defect' SubClassOf 'malformation syndrome' + 'Polyneuropathy - hand defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Polyneuropathy - hand defect' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119928 Label: tyrosine aminotransferase - 'tyrosine aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 2' - 'tyrosine aminotransferase' SubClassOf 'gene' + 'tyrosine aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosine aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 2' + 'tyrosine aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2924 Label: Isolated polycystic liver disease - 'Isolated polycystic liver disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated polycystic liver disease' SubClassOf 'malformation syndrome' - 'Isolated polycystic liver disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated polycystic liver disease' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Isolated polycystic liver disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Isolated polycystic liver disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated polycystic liver disease' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Isolated polycystic liver disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Isolated polycystic liver disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated polycystic liver disease' SubClassOf 'malformation syndrome' + 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Isolated polycystic liver disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated polycystic liver disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_293144 Label: Familial clubfoot due to 5q31 microdeletion - 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'part_of' some 'Familial clubfoot with or without associated lower limb anomalies' - 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'etiological subtype' + 'Familial clubfoot due to 5q31 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial clubfoot with or without associated lower limb anomalies' + 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2925 Label: Polymicrogyria - turricephaly - hypogenitalism - 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'malformation syndrome' - 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2928 Label: Polyneuropathy - intellectual disability - acromicria - premature menopause - 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'malformation syndrome' + 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2929 Label: Juvenile polyposis syndrome - 'Juvenile polyposis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Juvenile polyposis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Juvenile polyposis syndrome' SubClassOf 'disease' - 'Juvenile polyposis syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Juvenile polyposis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile polyposis syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile polyposis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Juvenile polyposis syndrome' SubClassOf 'disease' + 'Juvenile polyposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121563 Label: erythrocyte membrane protein band 4.1 - 'erythrocyte membrane protein band 4.1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' - 'erythrocyte membrane protein band 4.1' SubClassOf 'gene' + 'erythrocyte membrane protein band 4.1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'erythrocyte membrane protein band 4.1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' + 'erythrocyte membrane protein band 4.1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p33-p32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2941 Label: Porencephaly - cerebellar hypoplasia - internal malformations - 'Porencephaly - cerebellar hypoplasia - internal malformations' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Porencephaly - cerebellar hypoplasia - internal malformations' SubClassOf 'malformation syndrome' + 'Porencephaly - cerebellar hypoplasia - internal malformations' SubClassOf 'malformation syndrome' + 'Porencephaly - cerebellar hypoplasia - internal malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_2940 Label: Porencephaly - 'Porencephaly' SubClassOf 'disease' - 'Porencephaly' SubClassOf 'part_of' some 'Encephaloclastic disorder' - 'Porencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Porencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Porencephaly' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Porencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Porencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Porencephaly' SubClassOf 'disease' + 'Porencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Porencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Porencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephaloclastic disorder' + 'Porencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_121567 Label: EPH receptor B2 - 'EPH receptor B2' SubClassOf 'gene' - 'EPH receptor B2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'EPH receptor B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string + 'EPH receptor B2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'EPH receptor B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_308386 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2942 Label: Postpoliomyelitic syndrome - 'Postpoliomyelitic syndrome' SubClassOf 'part_of' some 'Acquired motor neuron disease' - 'Postpoliomyelitic syndrome' SubClassOf 'disease' + 'Postpoliomyelitic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired motor neuron disease' + 'Postpoliomyelitic syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279661 Label: cation channel, sperm associated 1 - 'cation channel, sperm associated 1' SubClassOf 'gene' - 'cation channel, sperm associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'cation channel, sperm associated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cation channel, sperm associated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'cation channel, sperm associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_264762 Label: Primary interstitial lung disease in childhood and adulthood - 'Primary interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' + 'Primary interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_308380 Label: Methylcobalamin deficiency type cblDv1 - 'Methylcobalamin deficiency type cblDv1' SubClassOf 'part_of' some 'Homocystinuria without methylmalonic aciduria' - 'Methylcobalamin deficiency type cblDv1' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblDv1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homocystinuria without methylmalonic aciduria' + 'Methylcobalamin deficiency type cblDv1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121560 Label: E1A binding protein p300 - 'E1A binding protein p300' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' - 'E1A binding protein p300' SubClassOf 'gene' + 'E1A binding protein p300' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'E1A binding protein p300' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' + 'E1A binding protein p300' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119910 Label: tumor-associated calcium signal transducer 2 - 'tumor-associated calcium signal transducer 2' SubClassOf 'gene' - 'tumor-associated calcium signal transducer 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gelatinous drop-like corneal dystrophy' - 'tumor-associated calcium signal transducer 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Honey-droplet corneal dystrophy' + 'tumor-associated calcium signal transducer 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gelatinous drop-like corneal dystrophy' + 'tumor-associated calcium signal transducer 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Honey-droplet corneal dystrophy' + 'tumor-associated calcium signal transducer 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'tumor-associated calcium signal transducer 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293150 Label: Familial clubfoot due to PITX1 point mutation - 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'part_of' some 'Familial clubfoot with or without associated lower limb anomalies' - 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'etiological subtype' + 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial clubfoot with or without associated lower limb anomalies' + 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_264757 Label: Interstitial lung disease in childhood and adulthood - 'Interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' + 'Interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2935 Label: Crossed polysyndactyly - 'Crossed polysyndactyly' SubClassOf 'malformation syndrome' - 'Crossed polysyndactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Crossed polysyndactyly' SubClassOf 'malformation syndrome' + 'Crossed polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_119916 Label: T-cell acute lymphocytic leukemia 1 - 'T-cell acute lymphocytic leukemia 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'T-cell acute lymphocytic leukemia 1' SubClassOf 'gene' + 'T-cell acute lymphocytic leukemia 1' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T-cell acute lymphocytic leukemia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-cell acute lymphocytic leukemia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247604 Label: Juvenile primary lateral sclerosis - 'Juvenile primary lateral sclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile primary lateral sclerosis' SubClassOf 'disease' - 'Juvenile primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile primary lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile primary lateral sclerosis' SubClassOf 'part_of' some 'Genetic motor neuron disease' + 'Juvenile primary lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile primary lateral sclerosis' SubClassOf 'disease' + 'Juvenile primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Juvenile primary lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_330 Label: Congenital factor XII deficiency - 'Congenital factor XII deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor XII deficiency' SubClassOf 'disease' - 'Congenital factor XII deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital factor XII deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital factor XII deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital factor XII deficiency' SubClassOf 'disease' + 'Congenital factor XII deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital factor XII deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_333 Label: Farber lipogranulomatosis - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Farber lipogranulomatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Farber lipogranulomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Farber lipogranulomatosis' SubClassOf 'disease' - 'Farber lipogranulomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Farber lipogranulomatosis' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Farber lipogranulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Farber lipogranulomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Farber lipogranulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Farber lipogranulomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Farber lipogranulomatosis' SubClassOf 'disease' + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Farber lipogranulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Farber lipogranulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_334 Label: Familial atrial fibrillation - 'Familial atrial fibrillation' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Familial atrial fibrillation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial atrial fibrillation' SubClassOf 'disease' + 'Familial atrial fibrillation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial atrial fibrillation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Familial atrial fibrillation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251949 Label: Ganglioglioma - 'Ganglioglioma' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Ganglioglioma' SubClassOf 'disease' + 'Ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Ganglioglioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_331 Label: Congenital factor XIII deficiency - 'Congenital factor XIII deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital factor XIII deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital factor XIII deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor XIII deficiency' SubClassOf 'disease' - 'Congenital factor XIII deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital factor XIII deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital factor XIII deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor XIII deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor XIII deficiency' SubClassOf 'disease' + 'Congenital factor XIII deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital factor XIII deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital factor XIII deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor XIII deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_251946 Label: Dysembryoplastic neuroepithelial tumor - 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'disease' - 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Dysembryoplastic neuroepithelial tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'disease' + 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_332 Label: Congenital intrinsic factor deficiency - 'Congenital intrinsic factor deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital intrinsic factor deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital intrinsic factor deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital intrinsic factor deficiency' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Congenital intrinsic factor deficiency' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Congenital intrinsic factor deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital intrinsic factor deficiency' SubClassOf 'disease' + 'Congenital intrinsic factor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Congenital intrinsic factor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Congenital intrinsic factor deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital intrinsic factor deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital intrinsic factor deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital intrinsic factor deficiency' SubClassOf 'disease' + 'Congenital intrinsic factor deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_337 Label: Fibrodysplasia ossificans progressiva - 'Fibrodysplasia ossificans progressiva' SubClassOf 'disease' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'part_of' some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_inheritance' some 'sporadic' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fibrodysplasia ossificans progressiva' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Fibrodysplasia ossificans progressiva' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrodysplasia ossificans progressiva' SubClassOf 'disease' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fibrodysplasia ossificans progressiva' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrodysplasia ossificans progressiva' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.043"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' + 'Fibrodysplasia ossificans progressiva' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.087"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrodysplasia ossificans progressiva' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrodysplasia ossificans progressiva' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_338 Label: Familial multiple fibrofolliculoma - 'Familial multiple fibrofolliculoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Familial multiple fibrofolliculoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial multiple fibrofolliculoma' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Familial multiple fibrofolliculoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial multiple fibrofolliculoma' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Familial multiple fibrofolliculoma' SubClassOf 'disease' + 'Familial multiple fibrofolliculoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Familial multiple fibrofolliculoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial multiple fibrofolliculoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial multiple fibrofolliculoma' SubClassOf 'disease' + 'Familial multiple fibrofolliculoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_335 Label: Congenital fibrinogen deficiency - 'Congenital fibrinogen deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital fibrinogen deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital fibrinogen deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital fibrinogen deficiency' SubClassOf 'disease' - 'Congenital fibrinogen deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital fibrinogen deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital fibrinogen deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital fibrinogen deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital fibrinogen deficiency' SubClassOf 'disease' + 'Congenital fibrinogen deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital fibrinogen deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital fibrinogen deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_336 Label: Fibromuscular dysplasia of arteries - 'Fibromuscular dysplasia of arteries' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Fibromuscular dysplasia of arteries' SubClassOf 'has_prevalence' some 'Unknown' - 'Fibromuscular dysplasia of arteries' SubClassOf 'part_of' some 'Rare cause of hypertension' - 'Fibromuscular dysplasia of arteries' SubClassOf 'part_of' some 'Rare vascular disease' - 'Fibromuscular dysplasia of arteries' SubClassOf 'disease' + 'Fibromuscular dysplasia of arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cause of hypertension' + 'Fibromuscular dysplasia of arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fibromuscular dysplasia of arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular disease' + 'Fibromuscular dysplasia of arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Fibromuscular dysplasia of arteries' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97336 Label: Panner disease - 'Panner disease' SubClassOf 'disease' - 'Panner disease' SubClassOf 'part_of' some 'Osteochondrosis' - 'Panner disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Panner disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Panner disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329 Label: Congenital factor XI deficiency - 'Congenital factor XI deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital factor XI deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital factor XI deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital factor XI deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor XI deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital factor XI deficiency' SubClassOf 'disease' + 'Congenital factor XI deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital factor XI deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital factor XI deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor XI deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor XI deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97335 Label: Osgood-Schlatter disease - 'Osgood-Schlatter disease' SubClassOf 'disease' - 'Osgood-Schlatter disease' SubClassOf 'part_of' some 'Osteochondrosis' + 'Osgood-Schlatter disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Osgood-Schlatter disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_328 Label: Congenital factor X deficiency - 'Congenital factor X deficiency' SubClassOf 'part_of' some 'Congenital vitamin K-dependent coagulation factors deficiency' - 'Congenital factor X deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital factor X deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor X deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital factor X deficiency' SubClassOf 'disease' + 'Congenital factor X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitamin K-dependent coagulation factors deficiency' + 'Congenital factor X deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital factor X deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor X deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97330 Label: Thoracic outlet syndrome - 'Thoracic outlet syndrome' SubClassOf 'part_of' some 'Rare surgical thoracic disease' - 'Thoracic outlet syndrome' SubClassOf 'disease' - 'Thoracic outlet syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare surgical thoracic disease' + 'Thoracic outlet syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_275786 Label: Drug- or toxin-induced pulmonary arterial hypertension - 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_97332 Label: Kienbock disease - 'Kienbock disease' SubClassOf 'disease' - 'Kienbock disease' SubClassOf 'part_of' some 'Osteochondrosis' + 'Kienbock disease' SubClassOf 'disease' + 'Kienbock disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_304075 Label: nicotinamide nucleotide transhydrogenase - 'nicotinamide nucleotide transhydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' - 'nicotinamide nucleotide transhydrogenase' SubClassOf 'gene' + 'nicotinamide nucleotide transhydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'nicotinamide nucleotide transhydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nicotinamide nucleotide transhydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120447 Label: Usher syndrome 2A (autosomal recessive, mild) - 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' - 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf 'gene' + 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41"^^http://www.w3.org/2001/XMLSchema#string + 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'Usher syndrome 2A (autosomal recessive, mild)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_166690 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 4' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120442 Label: Usher syndrome 1G (autosomal recessive) - 'Usher syndrome 1G (autosomal recessive)' SubClassOf 'gene' - 'Usher syndrome 1G (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'Usher syndrome 1G (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'Usher syndrome 1G (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'Usher syndrome 1G (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_358666 Label: dermatan sulfate epimerase - 'dermatan sulfate epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, musculocontractural type' - 'dermatan sulfate epimerase' SubClassOf 'gene' + 'dermatan sulfate epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dermatan sulfate epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ehlers-Danlos syndrome, musculocontractural type' + 'dermatan sulfate epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_357131 Label: Venous thoracic outlet syndrome - 'Venous thoracic outlet syndrome' SubClassOf 'clinical subtype' - 'Venous thoracic outlet syndrome' SubClassOf 'part_of' some 'Thoracic outlet syndrome' + 'Venous thoracic outlet syndrome' SubClassOf 'clinical subtype' + 'Venous thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320 Label: Apparent mineralocorticoid excess - 'Apparent mineralocorticoid excess' SubClassOf 'part_of' some 'Genetic hypertension' - 'Apparent mineralocorticoid excess' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Apparent mineralocorticoid excess' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Apparent mineralocorticoid excess' SubClassOf 'disease' - 'Apparent mineralocorticoid excess' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Apparent mineralocorticoid excess' SubClassOf 'part_of' some 'Rare adrenal disease' - 'Apparent mineralocorticoid excess' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Apparent mineralocorticoid excess' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Apparent mineralocorticoid excess' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Apparent mineralocorticoid excess' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Apparent mineralocorticoid excess' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Apparent mineralocorticoid excess' SubClassOf 'disease' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_321 Label: Multiple osteochondromas - 'Multiple osteochondromas' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple osteochondromas' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Multiple osteochondromas' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Multiple osteochondromas' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Multiple osteochondromas' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Multiple osteochondromas' SubClassOf 'disease' - 'Multiple osteochondromas' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple osteochondromas' SubClassOf 'part_of' some 'Rare bone tumor' - 'Multiple osteochondromas' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Multiple osteochondromas' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Multiple osteochondromas' SubClassOf 'disease' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Multiple osteochondromas' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_322 Label: Exstrophy-epispadias complex - 'Exstrophy-epispadias complex' SubClassOf 'malformation syndrome' - 'Exstrophy-epispadias complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Exstrophy-epispadias complex' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Exstrophy-epispadias complex' SubClassOf 'has_prevalence' some 'Unknown' - 'Exstrophy-epispadias complex' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Exstrophy-epispadias complex' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Exstrophy-epispadias complex' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Exstrophy-epispadias complex' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Exstrophy-epispadias complex' SubClassOf 'malformation syndrome' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Exstrophy-epispadias complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Exstrophy-epispadias complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Exstrophy-epispadias complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_251937 Label: Gangliocytoma - 'Gangliocytoma' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Gangliocytoma' SubClassOf 'disease' + 'Gangliocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Gangliocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_260602 Label: ring finger protein 213 - 'ring finger protein 213' SubClassOf 'Major susceptibility factor in' some 'Moyamoya disease' - 'ring finger protein 213' SubClassOf 'gene' + 'ring finger protein 213' SubClassOf 'Major susceptibility factor in' some 'Moyamoya disease' + 'ring finger protein 213' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'ring finger protein 213' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97339 Label: Dural sinus malformation - 'Dural sinus malformation' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Dural sinus malformation' SubClassOf 'morphological anomaly' + 'Dural sinus malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Dural sinus malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_324 Label: Fabry disease - 'Fabry disease' SubClassOf 'part_of' some 'Skin vascular disease' - 'Fabry disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Fabry disease' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Fabry disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Fabry disease' SubClassOf 'part_of' some 'Cataract associated with a metabolic disease' - 'Fabry disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Fabry disease' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Fabry disease' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Fabry disease' SubClassOf 'disease' - 'Fabry disease' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' - 'Fabry disease' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Fabry disease' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Fabry disease' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Fabry disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fabry disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Fabry disease' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' + 'Fabry disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cataract associated with a metabolic disease' + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with restrictive cardiomyopathy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Fabry disease' SubClassOf 'disease' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Fabry disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.015"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Fabry disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_251931 Label: Cerebellar liponeurocytoma - 'Cerebellar liponeurocytoma' SubClassOf 'disease' - 'Cerebellar liponeurocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cerebellar liponeurocytoma' SubClassOf 'part_of' some 'Neuronal tumor' - 'Cerebellar liponeurocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Cerebellar liponeurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cerebellar liponeurocytoma' SubClassOf 'disease' + 'Cerebellar liponeurocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cerebellar liponeurocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal tumor' Class: http://www.orpha.net/ORDO/Orphanet_325 Label: Congenital factor II deficiency - 'Congenital factor II deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital factor II deficiency' SubClassOf 'disease' - 'Congenital factor II deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital factor II deficiency' SubClassOf 'part_of' some 'Congenital vitamin K-dependent coagulation factors deficiency' - 'Congenital factor II deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital factor II deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor II deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital factor II deficiency' SubClassOf 'disease' + 'Congenital factor II deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor II deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitamin K-dependent coagulation factors deficiency' Class: http://www.orpha.net/ORDO/Orphanet_97337 Label: Sinding-Larsen-Johansson disease - 'Sinding-Larsen-Johansson disease' SubClassOf 'disease' - 'Sinding-Larsen-Johansson disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sinding-Larsen-Johansson disease' SubClassOf 'part_of' some 'Osteochondrosis' + 'Sinding-Larsen-Johansson disease' SubClassOf 'disease' + 'Sinding-Larsen-Johansson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_326 Label: Congenital factor V deficiency - 'Congenital factor V deficiency' SubClassOf 'disease' - 'Congenital factor V deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital factor V deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor V deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital factor V deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Congenital factor V deficiency' SubClassOf 'disease' + 'Congenital factor V deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor V deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital factor V deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor V deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_97338 Label: Melanoma of soft parts - 'Melanoma of soft parts' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Melanoma of soft parts' SubClassOf 'disease' + 'Melanoma of soft parts' SubClassOf 'disease' + 'Melanoma of soft parts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_327 Label: Congenital factor VII deficiency - 'Congenital factor VII deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital factor VII deficiency' SubClassOf 'disease' - 'Congenital factor VII deficiency' SubClassOf 'part_of' some 'Congenital vitamin K-dependent coagulation factors deficiency' - 'Congenital factor VII deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital factor VII deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Congenital factor VII deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital factor VII deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital factor VII deficiency' SubClassOf 'disease' + 'Congenital factor VII deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitamin K-dependent coagulation factors deficiency' + 'Congenital factor VII deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_251934 Label: Mixed neuronal-glial tumor - 'Mixed neuronal-glial tumor' SubClassOf 'group of disorders' + 'Mixed neuronal-glial tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_318 Label: Acute erythroid leukemia - 'Acute erythroid leukemia' SubClassOf 'disease' - 'Acute erythroid leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute erythroid leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute erythroid leukemia' SubClassOf 'disease' + 'Acute erythroid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute erythroid leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_97346 Label: Familial dementia, Danish type - 'Familial dementia, Danish type' SubClassOf 'disease' - 'Familial dementia, Danish type' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Familial dementia, Danish type' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' + 'Familial dementia, Danish type' SubClassOf 'disease' + 'Familial dementia, Danish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Familial dementia, Danish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_317 Label: Erythrokeratodermia variabilis - 'Erythrokeratodermia variabilis' SubClassOf 'has_prevalence' some 'Unknown' - 'Erythrokeratodermia variabilis' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' - 'Erythrokeratodermia variabilis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Erythrokeratodermia variabilis' SubClassOf 'part_of' some 'Erythrokeratoderma variabilis progressiva' - 'Erythrokeratodermia variabilis' SubClassOf 'disease' - 'Erythrokeratodermia variabilis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Erythrokeratodermia variabilis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Erythrokeratodermia variabilis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma variabilis progressiva' + 'Erythrokeratodermia variabilis' SubClassOf 'disease' + 'Erythrokeratodermia variabilis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Erythrokeratodermia variabilis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Erythrokeratodermia variabilis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_279606 Label: dedicator of cytokinesis 6 - 'dedicator of cytokinesis 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' - 'dedicator of cytokinesis 6' SubClassOf 'gene' + 'dedicator of cytokinesis 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dedicator of cytokinesis 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'dedicator of cytokinesis 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Adams-Oliver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97345 Label: Familial dementia, British type - 'Familial dementia, British type' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Familial dementia, British type' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Familial dementia, British type' SubClassOf 'disease' + 'Familial dementia, British type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Familial dementia, British type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Familial dementia, British type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279603 Label: neurobeachin-like 2 - 'neurobeachin-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' - 'neurobeachin-like 2' SubClassOf 'gene' + 'neurobeachin-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurobeachin-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' + 'neurobeachin-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120450 Label: ubiquitin specific peptidase 9, Y-linked - 'ubiquitin specific peptidase 9, Y-linked' SubClassOf 'gene' - 'ubiquitin specific peptidase 9, Y-linked' SubClassOf 'Role in the phenotype of' some 'Partial chromosome Y deletion' + 'ubiquitin specific peptidase 9, Y-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin specific peptidase 9, Y-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin specific peptidase 9, Y-linked' SubClassOf 'Role in the phenotype of' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_319 Label: Ewing sarcoma - 'Ewing sarcoma' SubClassOf 'part_of' some 'Bone sarcoma' - 'Ewing sarcoma' SubClassOf 'disease' - 'Ewing sarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Ewing sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ewing sarcoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ewing sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ewing sarcoma' SubClassOf 'disease' + 'Ewing sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "2.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Ewing sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Ewing sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_251940 Label: Desmoplastic infantile astrocytoma/ganglioglioma - 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'disease' - 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'disease' + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_97342 Label: Argyrophilic grain disease - 'Argyrophilic grain disease' SubClassOf 'disease' - 'Argyrophilic grain disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Argyrophilic grain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Argyrophilic grain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Argyrophilic grain disease' SubClassOf 'disease' + 'Argyrophilic grain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_140481 Label: Autosomal dominant slowed nerve conduction velocity - 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'disease' - 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'disease' + 'Autosomal dominant slowed nerve conduction velocity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_97341 Label: Persistent placoid maculopathy - 'Persistent placoid maculopathy' SubClassOf 'disease' - 'Persistent placoid maculopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Persistent placoid maculopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Persistent placoid maculopathy' SubClassOf 'disease' + 'Persistent placoid maculopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Persistent placoid maculopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_97340 Label: Hunter-McAlpine craniosynostosis - 'Hunter-McAlpine craniosynostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hunter-McAlpine craniosynostosis' SubClassOf 'malformation syndrome' - 'Hunter-McAlpine craniosynostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Hunter-McAlpine craniosynostosis' SubClassOf 'malformation syndrome' + 'Hunter-McAlpine craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Hunter-McAlpine craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_275798 Label: Pulmonary arterial hypertension associated with connective tissue disease - 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.036"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168101 Label: ribonucleotide reductase M2 B (TP53 inducible) - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'gene' - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' - 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome' + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' + 'ribonucleotide reductase M2 B (TP53 inducible)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120457 Label: versican - 'versican' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wagner disease' - 'versican' SubClassOf 'gene' + 'versican' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'versican' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wagner disease' + 'versican' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.2-q14.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_275791 Label: Pulmonary arterial hypertension associated with another disease - 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166683 Label: syntaxin binding protein 1 - 'syntaxin binding protein 1' SubClassOf 'gene' - 'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'syntaxin binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'syntaxin binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120453 Label: VAMP (vesicle-associated membrane protein)-associated protein B and C - 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf 'gene' - 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' - 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' + 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'VAMP (vesicle-associated membrane protein)-associated protein B and C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_310112 Label: dickkopf WNT signaling pathway inhibitor 1 - 'dickkopf WNT signaling pathway inhibitor 1' SubClassOf 'gene' - 'dickkopf WNT signaling pathway inhibitor 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' + 'dickkopf WNT signaling pathway inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'dickkopf WNT signaling pathway inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dickkopf WNT signaling pathway inhibitor 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' Class: http://www.orpha.net/ORDO/Orphanet_293103 Label: AT rich interactive domain 1A (SWI-like) - 'AT rich interactive domain 1A (SWI-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' - 'AT rich interactive domain 1A (SWI-like)' SubClassOf 'gene' + 'AT rich interactive domain 1A (SWI-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'AT rich interactive domain 1A (SWI-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string + 'AT rich interactive domain 1A (SWI-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_376910 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5' SubClassOf 'gene' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.1-q31.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_315 Label: Erythrokeratoderma "en cocardes" - 'Erythrokeratoderma "en cocardes"' SubClassOf 'disease' - 'Erythrokeratoderma "en cocardes"' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Erythrokeratoderma "en cocardes"' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Erythrokeratoderma "en cocardes"' SubClassOf 'part_of' some 'Genetic erythrokeratoderma' - 'Erythrokeratoderma "en cocardes"' SubClassOf 'part_of' some 'Erythrokeratoderma' - 'Erythrokeratoderma "en cocardes"' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Erythrokeratoderma "en cocardes"' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic erythrokeratoderma' + 'Erythrokeratoderma "en cocardes"' SubClassOf 'disease' + 'Erythrokeratoderma "en cocardes"' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Erythrokeratoderma "en cocardes"' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma' + 'Erythrokeratoderma "en cocardes"' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Erythrokeratoderma "en cocardes"' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_101150 Label: Autosomal recessive dopa-responsive dystonia - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'part_of' some 'Disorder of pterin metabolism' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'part_of' some 'Dopa-responsive dystonia' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'disease' - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pterin metabolism' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dopa-responsive dystonia' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97349 Label: Postencephalitic parkinsonism - 'Postencephalitic parkinsonism' SubClassOf 'disease' - 'Postencephalitic parkinsonism' SubClassOf 'part_of' some 'Infectious disease with dementia' - 'Postencephalitic parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Postencephalitic parkinsonism' SubClassOf 'disease' + 'Postencephalitic parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with dementia' + 'Postencephalitic parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_316 Label: Progressive symmetric erythrokeratodermia - 'Progressive symmetric erythrokeratodermia' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive symmetric erythrokeratodermia' SubClassOf 'part_of' some 'Erythrokeratoderma variabilis progressiva' - 'Progressive symmetric erythrokeratodermia' SubClassOf 'disease' + 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive symmetric erythrokeratodermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma variabilis progressiva' + 'Progressive symmetric erythrokeratodermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Progressive symmetric erythrokeratodermia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Progressive symmetric erythrokeratodermia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_313 Label: Lamellar ichthyosis - 'Lamellar ichthyosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lamellar ichthyosis' SubClassOf 'disease' - 'Lamellar ichthyosis' SubClassOf 'part_of' some 'Secondary ectropion' - 'Lamellar ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lamellar ichthyosis' SubClassOf 'part_of' some 'Ichthyosis associated with ocular features' - 'Lamellar ichthyosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lamellar ichthyosis' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' + 'Lamellar ichthyosis' SubClassOf 'disease' + 'Lamellar ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lamellar ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Lamellar ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.96"^^http://www.w3.org/2001/XMLSchema#string) + 'Lamellar ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Lamellar ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Lamellar ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ichthyosis associated with ocular features' + 'Lamellar ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lamellar ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_314 Label: Erythroderma desquamativum - 'Erythroderma desquamativum' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Erythroderma desquamativum' SubClassOf 'disease' - 'Erythroderma desquamativum' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Erythroderma desquamativum' SubClassOf 'disease' + 'Erythroderma desquamativum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Erythroderma desquamativum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_312 Label: Epidermolytic ichthyosis - 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermolytic ichthyosis' SubClassOf 'disease' - 'Epidermolytic ichthyosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolytic ichthyosis' SubClassOf 'disease' + 'Epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_251927 Label: Extraventricular neurocytoma - 'Extraventricular neurocytoma' SubClassOf 'part_of' some 'Neuronal tumor' - 'Extraventricular neurocytoma' SubClassOf 'disease' + 'Extraventricular neurocytoma' SubClassOf 'disease' + 'Extraventricular neurocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251924 Label: Neuronal tumor - 'Neuronal tumor' SubClassOf 'group of disorders' + 'Neuronal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_310 Label: Reflex epilepsy - 'Reflex epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'Reflex epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Reflex epilepsy' SubClassOf 'group of disorders' + 'Reflex epilepsy' SubClassOf 'group of disorders' + 'Reflex epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_97352 Label: Pellagra - 'Pellagra' SubClassOf 'part_of' some 'Other acquired skin 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"0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Idiopathic pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic and/or familial pulmonary arterial hypertension' + 'Idiopathic pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_97353 Label: Dementia pugilistica - 'Dementia pugilistica' SubClassOf 'disease' - 'Dementia pugilistica' SubClassOf 'part_of' some 'Rare dementia' + 'Dementia pugilistica' SubClassOf 'disease' + 'Dementia pugilistica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare 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'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'valosin containing protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'valosin containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia - Paget disease of bone' + 'valosin containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'valosin containing protein' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' Class: http://www.orpha.net/ORDO/Orphanet_97355 Label: Parkinsonism with dementia of Guadeloupe - 'Parkinsonism with dementia of Guadeloupe' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Parkinsonism with dementia of Guadeloupe' SubClassOf 'disease' - 'Parkinsonism with dementia of Guadeloupe' SubClassOf 'has_prevalence' some 'Unknown' - 'Parkinsonism with dementia of Guadeloupe' SubClassOf 'part_of' some 'Rare dementia' + 'Parkinsonism with dementia of Guadeloupe' SubClassOf 'disease' + 'Parkinsonism with dementia of Guadeloupe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'Parkinsonism with dementia of Guadeloupe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_308 Label: Unverricht-Lundborg disease - 'Unverricht-Lundborg disease' SubClassOf 'part_of' some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Unverricht-Lundborg disease' SubClassOf 'malformation syndrome' - 'Unverricht-Lundborg disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Unverricht-Lundborg disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Unverricht-Lundborg disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Unverricht-Lundborg disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Unverricht-Lundborg disease' SubClassOf 'malformation syndrome' + 'Unverricht-Lundborg disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Unverricht-Lundborg disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Unverricht-Lundborg disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Unverricht-Lundborg disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Unverricht-Lundborg disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Unverricht-Lundborg disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Unverricht-Lundborg disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Unverricht-Lundborg disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_275761 Label: Lysosomal acid lipase deficiency - 'Lysosomal acid lipase deficiency' SubClassOf 'part_of' some 'Rare syndromic dyslipidemia' - 'Lysosomal acid lipase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lysosomal acid lipase deficiency' SubClassOf 'disease' - 'Lysosomal acid lipase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Lysosomal acid lipase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lysosomal acid lipase deficiency' SubClassOf 'part_of' some 'Lipid storage disease' + 'Lysosomal acid lipase deficiency' SubClassOf 'disease' + 'Lysosomal acid lipase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lysosomal acid lipase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Lysosomal acid lipase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lysosomal acid lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipid storage disease' + 'Lysosomal acid lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndromic dyslipidemia' Class: http://www.orpha.net/ORDO/Orphanet_317572 Label: ribosomal protein L26 - 'ribosomal protein L26' SubClassOf 'gene' - 'ribosomal protein L26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein L26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_307 Label: Juvenile myoclonic epilepsy - 'Juvenile myoclonic epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Juvenile myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Juvenile myoclonic epilepsy' SubClassOf 'disease' - 'Juvenile myoclonic epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile myoclonic epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'Juvenile myoclonic epilepsy' SubClassOf 'part_of' some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Juvenile myoclonic epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Juvenile myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Juvenile myoclonic epilepsy' SubClassOf 'disease' + 'Juvenile myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Juvenile myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_306 Label: Benign familial infantile epilepsy - 'Benign familial infantile epilepsy' SubClassOf 'group of disorders' - 'Benign familial infantile epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'Benign familial infantile epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Benign familial infantile epilepsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Benign familial infantile epilepsy' SubClassOf 'group of disorders' + 'Benign familial infantile epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign familial infantile epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Benign familial infantile epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120464 Label: vitamin D (1,25- dihydroxyvitamin D3) receptor - 'vitamin D (1,25- dihydroxyvitamin D3) receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-resistant rickets' - 'vitamin D (1,25- dihydroxyvitamin D3) receptor' SubClassOf 'gene' + 'vitamin D (1,25- dihydroxyvitamin D3) receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q14"^^http://www.w3.org/2001/XMLSchema#string + 'vitamin D (1,25- dihydroxyvitamin D3) receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-resistant rickets' + 'vitamin D (1,25- 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'Disease-causing germline mutation(s) in' some 'Von Hippel-Lindau disease' + 'von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357154 Label: Oral submucous fibrosis - 'Oral submucous fibrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Oral submucous fibrosis' SubClassOf 'part_of' some 'Rare maxillo-facial surgical disease' - 'Oral submucous fibrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oral submucous fibrosis' SubClassOf 'disease' + 'Oral submucous fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare maxillo-facial surgical disease' + 'Oral submucous fibrosis' SubClassOf 'disease' + 'Oral submucous fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_293114 Label: thromboxane A2 receptor - 'thromboxane A2 receptor' SubClassOf 'Major susceptibility factor in' some 'Bleeding diathesis due to thromboxane synthesis deficiency' - 'thromboxane A2 receptor' SubClassOf 'gene' + 'thromboxane A2 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thromboxane A2 receptor' SubClassOf 'Major susceptibility factor in' some 'Bleeding diathesis due to thromboxane synthesis deficiency' + 'thromboxane A2 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251919 Label: Pineal parenchymal tumor of intermediate differenciation - 'Pineal parenchymal tumor of intermediate differenciation' SubClassOf 'part_of' some 'Pineal tumor of the neuroepithelial tissue' - 'Pineal parenchymal tumor of intermediate differenciation' SubClassOf 'disease' + 'Pineal parenchymal tumor of intermediate differenciation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pineal tumor of the neuroepithelial tissue' + 'Pineal parenchymal tumor of intermediate differenciation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163596 Label: Hb Bart's hydrops fetalis - 'Hb Bart's hydrops fetalis' SubClassOf 'disease' - 'Hb Bart's hydrops fetalis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hb Bart's hydrops fetalis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hb Bart's hydrops fetalis' SubClassOf 'has_prevalence' some '6-9 / 10 000' - 'Hb Bart's hydrops fetalis' SubClassOf 'part_of' some 'Alpha-thalassemia' + 'Hb Bart's hydrops fetalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hb Bart's hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hb Bart's hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409989) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "275.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hb Bart's hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia' + 'Hb Bart's hydrops fetalis' SubClassOf 'clinical subtype' + 'Hb Bart's hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hb Bart's hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_358686 Label: centrosomal protein 89kDa - 'centrosomal protein 89kDa' SubClassOf 'gene' - 'centrosomal protein 89kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'centrosomal protein 89kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 89kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cytochrome C oxidase deficiency' + 'centrosomal protein 89kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357158 Label: Mandibulofacial dysostosis - macroblepharon - macrostomia - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'disease' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'part_of' some 'Mandibulofacial dysostosis' - 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'disease' + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibulofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_302 Label: Epidermodysplasia verruciformis - 'Epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Epidermodysplasia verruciformis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Epidermodysplasia verruciformis' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Epidermodysplasia verruciformis' SubClassOf 'disease' - 'Epidermodysplasia verruciformis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Epidermodysplasia verruciformis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Epidermodysplasia verruciformis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermodysplasia verruciformis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_303 Label: Dystrophic epidermolysis bullosa - 'Dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dystrophic epidermolysis bullosa' SubClassOf 'group of disorders' - 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'sporadic' + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.88"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf 'group of disorders' + 'Dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_304 Label: Epidermolysis bullosa simplex - 'Epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermolysis bullosa simplex' SubClassOf 'group of disorders' - 'Epidermolysis bullosa simplex' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.86"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf 'group of disorders' + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Epidermolysis bullosa simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Epidermolysis bullosa simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_305 Label: Junctional epidermolysis bullosa - 'Junctional epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Junctional epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Junctional epidermolysis bullosa' SubClassOf 'group of disorders' - 'Junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Junctional epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251912 Label: Pineocytoma - 'Pineocytoma' SubClassOf 'disease' - 'Pineocytoma' SubClassOf 'part_of' some 'Pineal tumor of the neuroepithelial tissue' + 'Pineocytoma' SubClassOf 'disease' + 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pineal tumor of the neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_310103 Label: wingless-type MMTV integration site family, member 3A - 'wingless-type MMTV integration site family, member 3A' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 3A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' + 'wingless-type MMTV integration site family, member 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 3A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' + 'wingless-type MMTV integration site family, member 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_300 Label: Bifunctional enzyme deficiency - 'Bifunctional enzyme deficiency' SubClassOf 'part_of' some 'Peroxisomal beta-oxidation disorder' - 'Bifunctional enzyme deficiency' SubClassOf 'disease' + 'Bifunctional enzyme deficiency' SubClassOf 'disease' + 'Bifunctional enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal beta-oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_163591 Label: Rare mycosis - 'Rare mycosis' SubClassOf 'group of disorders' + 'Rare mycosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251915 Label: Papillary tumour of the pineal region - 'Papillary tumour of the pineal region' SubClassOf 'part_of' some 'Pineal tumor of the neuroepithelial tissue' - 'Papillary tumour of the pineal region' SubClassOf 'disease' - 'Papillary tumour of the pineal region' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Papillary tumour of the pineal region' SubClassOf 'has_inheritance' some 'sporadic' + 'Papillary tumour of the pineal region' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pineal tumor of the neuroepithelial tissue' + 'Papillary tumour of the pineal region' SubClassOf 'disease' + 'Papillary tumour of the pineal region' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Papillary tumour of the pineal region' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_301 Label: Ependymal tumor - 'Ependymal tumor' SubClassOf 'group of disorders' + 'Ependymal tumor' SubClassOf 'group of disorders' + 'Ependymal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.41"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "3.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ependymal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_97365 Label: Solitary renal cyst - 'Solitary renal cyst' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_275777 Label: Heritable pulmonary arterial hypertension - 'Heritable pulmonary arterial hypertension' SubClassOf 'part_of' some 'Idiopathic and/or familial pulmonary arterial hypertension' - 'Heritable pulmonary arterial hypertension' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Heritable pulmonary arterial hypertension' SubClassOf 'etiological subtype' - 'Heritable pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Heritable pulmonary arterial hypertension' SubClassOf 'has_prevalence' some 'Unknown' + 'Heritable pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heritable pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Heritable pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Heritable pulmonary arterial hypertension' SubClassOf 'etiological subtype' + 'Heritable pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic and/or familial pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_97364 Label: Bilateral multicystic dysplastic kidney - 'Bilateral multicystic dysplastic kidney' SubClassOf 'part_of' some 'Multicystic dysplastic kidney' - 'Bilateral multicystic dysplastic kidney' SubClassOf 'clinical subtype' + 'Bilateral multicystic dysplastic kidney' SubClassOf 'clinical subtype' + 'Bilateral multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicystic dysplastic kidney' Class: http://www.orpha.net/ORDO/Orphanet_97363 Label: Unilateral multicystic dysplastic kidney - 'Unilateral multicystic dysplastic kidney' SubClassOf 'part_of' some 'Multicystic dysplastic kidney' - 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_prevalence' some 'Unknown' - 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Unilateral multicystic dysplastic kidney' SubClassOf 'clinical subtype' + 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Unilateral multicystic dysplastic kidney' SubClassOf 'clinical subtype' + 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Unilateral multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicystic dysplastic kidney' + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "45.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "60.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Unilateral multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "108.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_97362 Label: Bilateral renal hypoplasia - 'Bilateral renal hypoplasia' SubClassOf 'part_of' some 'Renal hypoplasia' - 'Bilateral renal hypoplasia' SubClassOf 'clinical subtype' + 'Bilateral renal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bilateral renal hypoplasia' SubClassOf 'clinical subtype' + 'Bilateral renal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bilateral renal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bilateral renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_97369 Label: Renal tubular dysgenesis of genetic origin - 'Renal tubular dysgenesis of genetic origin' SubClassOf 'etiological subtype' - 'Renal tubular dysgenesis of genetic origin' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Renal tubular dysgenesis of genetic origin' SubClassOf 'part_of' some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis of genetic origin' SubClassOf 'etiological subtype' + 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_120470 Label: very low density lipoprotein receptor - 'very low density lipoprotein receptor' SubClassOf 'gene' - 'very low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' + 'very low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24"^^http://www.w3.org/2001/XMLSchema#string + 'very low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'very low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97368 Label: Renal tubular dysgenesis drugs-related - 'Renal tubular dysgenesis drugs-related' SubClassOf 'etiological subtype' - 'Renal tubular dysgenesis drugs-related' SubClassOf 'part_of' some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis drugs-related' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis drugs-related' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_97367 Label: Renal tubular dysgenesis due to twin-twin transfusion - 'Renal tubular dysgenesis due to twin-twin transfusion' SubClassOf 'etiological subtype' - 'Renal tubular dysgenesis due to twin-twin transfusion' SubClassOf 'part_of' some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis due to twin-twin transfusion' SubClassOf 'etiological subtype' + 'Renal tubular dysgenesis due to twin-twin transfusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal tubular dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_120472 Label: vacuolar protein sorting 13 homolog A (S. cerevisiae) - 'vacuolar protein sorting 13 homolog A (S. cerevisiae)' SubClassOf 'gene' - 'vacuolar protein sorting 13 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choreoacanthocytosis' + 'vacuolar protein sorting 13 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 13 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 13 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choreoacanthocytosis' Class: http://www.orpha.net/ORDO/Orphanet_97366 Label: Multiloculated renal cyst - 'Multiloculated renal cyst' SubClassOf 'morphological anomaly' - 'Multiloculated renal cyst' SubClassOf 'part_of' some 'Rare renal tumor' + 'Multiloculated renal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tumor' + 'Multiloculated renal cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120476 Label: vacuolar protein sorting 13 homolog B (yeast) - 'vacuolar protein sorting 13 homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cohen syndrome' - 'vacuolar protein sorting 13 homolog B (yeast)' SubClassOf 'gene' + 'vacuolar protein sorting 13 homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 13 homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 13 homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97361 Label: Unilateral renal hypoplasia - 'Unilateral renal hypoplasia' SubClassOf 'part_of' some 'Renal hypoplasia' - 'Unilateral renal hypoplasia' SubClassOf 'clinical subtype' + 'Unilateral renal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Unilateral renal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Unilateral renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal hypoplasia' + 'Unilateral renal hypoplasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_97360 Label: Robinow syndrome - 'Robinow syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Robinow syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Robinow syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Robinow syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Robinow syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Robinow syndrome' SubClassOf 'malformation syndrome' - 'Robinow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Robinow syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Robinow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Robinow syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Robinow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Robinow syndrome' SubClassOf 'malformation syndrome' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Robinow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_275736 Label: Rare hemorrhagic disorder due to a platelet receptor defect - 'Rare hemorrhagic disorder due to a platelet receptor defect' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a platelet receptor defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238269 Label: Familial renal amyloidosis due to Apolipoprotein AII variant - 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' + 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_317554 Label: otogelin - 'otogelin' SubClassOf 'gene' - 'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'otogelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'otogelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_163588 Label: Rare parasitic disease - 'Rare parasitic disease' SubClassOf 'group of disorders' + 'Rare parasitic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_358630 Label: Ras-like without CAAX 1 - 'Ras-like without CAAX 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'Ras-like without CAAX 1' SubClassOf 'gene' + 'Ras-like without CAAX 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Ras-like without CAAX 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Noonan syndrome' + 'Ras-like without CAAX 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_163585 Label: Rare viral disease - 'Rare viral disease' SubClassOf 'group of disorders' + 'Rare viral disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_163582 Label: Rare bacterial infectious disease - 'Rare bacterial infectious disease' SubClassOf 'group of disorders' + 'Rare bacterial infectious disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140450 Label: Hereditary motor and sensory neuropathy - 'Hereditary motor and sensory neuropathy' SubClassOf 'group of disorders' + 'Hereditary motor and sensory neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140453 Label: Autosomal dominant hereditary demyelinating motor and sensory neuropathy - 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'group of disorders' + 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120487 Label: von Willebrand factor - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 3' - 'von Willebrand factor' SubClassOf 'gene' - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2A' - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 1' - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2B' - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2N' - 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2M' + 'von Willebrand factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 3' + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2A' + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 1' + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2B' + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2N' + 'von Willebrand factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Von Willebrand disease type 2M' + 'von Willebrand factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140456 Label: Autosomal dominant hereditary axonal motor and sensory neuropathy - 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'group of disorders' + 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251995 Label: Primary germ cell tumor of the central nervous system - 'Primary germ cell tumor of the central nervous system' SubClassOf 'group of disorders' + 'Primary germ cell tumor of the central nervous system' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120483 Label: visual system homeobox 1 - 'visual system homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' - 'visual system homeobox 1' SubClassOf 'gene' + 'visual system homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'visual system homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' + 'visual system homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120480 Label: vacuolar protein sorting 33 homolog B (yeast) - 'vacuolar protein sorting 33 homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis - renal dysfunction - cholestasis' - 'vacuolar protein sorting 33 homolog B (yeast)' SubClassOf 'gene' + 'vacuolar protein sorting 33 homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis - renal dysfunction - cholestasis' + 'vacuolar protein sorting 33 homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 33 homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_180766 Label: Malformative syndrome with dentinogenesis imperfecta - 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'group of disorders' + 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94075 Label: Severe immune-mediated enteropathy - 'Severe immune-mediated enteropathy' SubClassOf 'group of disorders' + 'Severe immune-mediated enteropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_275742 Label: Genetic infertility - 'Genetic infertility' SubClassOf 'group of disorders' + 'Genetic infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251992 Label: Ganglioneuroma - 'Ganglioneuroma' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Ganglioneuroma' SubClassOf 'disease' + 'Ganglioneuroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Ganglioneuroma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_275745 Label: Alpha-thalassemia and related diseases - 'Alpha-thalassemia and related diseases' SubClassOf 'group of disorders' + 'Alpha-thalassemia and related diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168155 Label: tetraspanin 7 - 'tetraspanin 7' SubClassOf 'gene' - 'tetraspanin 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'tetraspanin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetraspanin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string + 'tetraspanin 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119971 Label: titin-cap - 'titin-cap' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2G' - 'titin-cap' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'titin-cap' SubClassOf 'gene' + 'titin-cap' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2G' + 'titin-cap' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'titin-cap' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12"^^http://www.w3.org/2001/XMLSchema#string + 'titin-cap' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_275749 Label: Beta-thalassemia and related diseases - 'Beta-thalassemia and related diseases' SubClassOf 'group of disorders' + 'Beta-thalassemia and related diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247651 Label: Infantile hypophosphatasia - 'Infantile hypophosphatasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Infantile hypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' - 'Infantile hypophosphatasia' SubClassOf 'clinical subtype' - 'Infantile hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Infantile hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Infantile hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile hypophosphatasia' SubClassOf 'clinical subtype' + 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' + 'Infantile hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_317567 Label: otogelin-like - 'otogelin-like' SubClassOf 'gene' - 'otogelin-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'otogelin-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'otogelin-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'otogelin-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_251975 Label: Rosette-forming glioneuronal tumour of the fourth ventricule - 'Rosette-forming glioneuronal tumour of the fourth ventricule' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Rosette-forming glioneuronal tumour of the fourth ventricule' SubClassOf 'disease' + 'Rosette-forming glioneuronal tumour of the fourth ventricule' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Rosette-forming glioneuronal tumour of the fourth ventricule' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140436 Label: Primary intraosseous vascular malformation - 'Primary intraosseous vascular malformation' SubClassOf 'disease' - 'Primary intraosseous vascular malformation' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Primary intraosseous vascular malformation' SubClassOf 'part_of' some 'Vascular tumor' + 'Primary intraosseous vascular malformation' SubClassOf 'disease' + 'Primary intraosseous vascular malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Primary intraosseous vascular malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357175 Label: Short ulna - dysmorphism - hypotonia - intellectual disability - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'malformation syndrome' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'malformation syndrome' + 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_376917 Label: vascular endothelial growth factor C - 'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' - 'vascular endothelial growth factor C' SubClassOf 'gene' + 'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' + 'vascular endothelial growth factor C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'vascular endothelial growth factor C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_94061 Label: Macrocephaly - immune deficiency - anemia - 'Macrocephaly - immune deficiency - anemia' SubClassOf 'part_of' some 'Primary immunodeficiency' - 'Macrocephaly - immune deficiency - anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Macrocephaly - immune deficiency - anemia' SubClassOf 'disease' - 'Macrocephaly - immune deficiency - anemia' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Macrocephaly - immune deficiency - anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Macrocephaly - immune deficiency - anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Macrocephaly - immune deficiency - anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary immunodeficiency' + 'Macrocephaly - immune deficiency - anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120495 Label: Williams-Beuren syndrome chromosome region 16 - 'Williams-Beuren syndrome chromosome region 16' SubClassOf 'Candidate gene tested in' some 'Williams syndrome' - 'Williams-Beuren syndrome chromosome region 16' SubClassOf 'gene' + 'Williams-Beuren syndrome chromosome region 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'Williams-Beuren syndrome chromosome region 16' SubClassOf 'Candidate gene tested in' some 'Williams syndrome' + 'Williams-Beuren syndrome chromosome region 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120497 Label: Williams Beuren syndrome chromosome region 22 - 'Williams Beuren syndrome chromosome region 22' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'Williams Beuren syndrome chromosome region 22' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_275752 Label: Sickle cell disease and related diseases - 'Sickle cell disease and related diseases' SubClassOf 'group of disorders' + 'Sickle cell disease and related diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94066 Label: Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'malformation syndrome' - 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_317560 Label: polyribonucleotide nucleotidyltransferase 1 - 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 13' - 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'gene' + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 13' + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p15"^^http://www.w3.org/2001/XMLSchema#string + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_94068 Label: Spondyloepiphyseal dysplasia congenita - 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'has_prevalence' some 'Unknown' + 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_94063 Label: 12q14 microdeletion syndrome - '12q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '12q14 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '12q14 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '12q14 microdeletion syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - '12q14 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 12' - '12q14 microdeletion syndrome' SubClassOf 'malformation syndrome' - '12q14 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '12q14 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 12' + '12q14 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '12q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '12q14 microdeletion syndrome' SubClassOf 'malformation syndrome' + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_94062 Label: Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'part_of' some 'Rare cardiac disease' - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'disease' - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'part_of' some 'Rare genetic cardiac disease' + 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic cardiac disease' + 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'disease' + 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac disease' + 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_94065 Label: 15q24 microdeletion syndrome - '15q24 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q24 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '15q24 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '15q24 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '15q24 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '15q24 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '15q24 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q24 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q24 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_94064 Label: Deafness-infertility syndrome - 'Deafness-infertility syndrome' SubClassOf 'part_of' some 'Male infertility due to sperm motility disorder' - 'Deafness-infertility syndrome' SubClassOf 'malformation syndrome' - 'Deafness-infertility syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness-infertility syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness-infertility syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness-infertility syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' - 'Deafness-infertility syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Deafness-infertility syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to sperm motility disorder' + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness-infertility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Deafness-infertility syndrome' SubClassOf 'malformation syndrome' + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + 'Deafness-infertility syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120490 Label: Wiskott-Aldrich syndrome (Gen) - 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked severe congenital neutropenia' - 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' - 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'gene' - 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked thrombocytopenia with normal platelets' + 'Wiskott-Aldrich syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked severe congenital neutropenia' + 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' + 'Wiskott-Aldrich syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked thrombocytopenia with normal platelets' + 'Wiskott-Aldrich syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_358659 Label: ADAM metallopeptidase domain 10 - 'ADAM metallopeptidase domain 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reticulate acropigmentation of Kitamura' - 'ADAM metallopeptidase domain 10' SubClassOf 'gene' + 'ADAM metallopeptidase domain 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Reticulate acropigmentation of Kitamura' + 'ADAM metallopeptidase domain 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase domain 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247623 Label: Perinatal lethal hypophosphatasia - 'Perinatal lethal hypophosphatasia' SubClassOf 'clinical subtype' - 'Perinatal lethal hypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' - 'Perinatal lethal hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Perinatal lethal hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Perinatal lethal hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' + 'Perinatal lethal hypophosphatasia' SubClassOf 'clinical subtype' + 'Perinatal lethal hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' + 'Perinatal lethal hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Perinatal lethal hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Perinatal lethal hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_140468 Label: Autosomal recessive distal hereditary motor neuropathy - 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'group of disorders' + 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94090 Label: Pseudohypoparathyroidism type 2 - 'Pseudohypoparathyroidism type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudohypoparathyroidism type 2' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Pseudohypoparathyroidism type 2' SubClassOf 'disease' - 'Pseudohypoparathyroidism type 2' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudohypoparathyroidism type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pseudohypoparathyroidism type 2' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' - 'Pseudohypoparathyroidism type 2' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Pseudohypoparathyroidism type 2' SubClassOf 'disease' + 'Pseudohypoparathyroidism type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudohypoparathyroidism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Pseudohypoparathyroidism type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pseudohypoparathyroidism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Pseudohypoparathyroidism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_140477 Label: Autosomal recessive hereditary sensory and autonomic neuropathy - 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' + 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94093 Label: Neuroleptic malignant syndrome - 'Neuroleptic malignant syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Neuroleptic malignant syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Neuroleptic malignant syndrome' SubClassOf 'disease' + 'Neuroleptic malignant syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroleptic malignant syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "170.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroleptic malignant syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Neuroleptic malignant syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140471 Label: Hereditary sensory and autonomic neuropathy - 'Hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' + 'Hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140474 Label: Autosomal dominant hereditary sensory and autonomic neuropathy - 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' + 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94095 Label: Spondylocostal dysostosis - anal and genitourinary malformations - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'malformation syndrome' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'malformation syndrome' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_119999 Label: transcobalamin II - 'transcobalamin II' SubClassOf 'gene' - 'transcobalamin II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transcobalamin deficiency' + 'transcobalamin II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcobalamin II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'transcobalamin II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transcobalamin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_275729 Label: Rare hemorrhagic disorder due to a constitutional thrombocytopenia - 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79100 Label: Atrophoderma vermiculata - 'Atrophoderma vermiculata' SubClassOf 'disease' - 'Atrophoderma vermiculata' SubClassOf 'part_of' some 'Keratosis pilaris atrophicans' - 'Atrophoderma vermiculata' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atrophoderma vermiculata' SubClassOf 'has_prevalence' some 'Unknown' + 'Atrophoderma vermiculata' SubClassOf 'disease' + 'Atrophoderma vermiculata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratosis pilaris atrophicans' + 'Atrophoderma vermiculata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Atrophoderma vermiculata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79101 Label: Hyperprolinemia type 2 - 'Hyperprolinemia type 2' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Hyperprolinemia type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperprolinemia type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperprolinemia type 2' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hyperprolinemia type 2' SubClassOf 'disease' - 'Hyperprolinemia type 2' SubClassOf 'part_of' some 'Disorder of proline metabolism' - 'Hyperprolinemia type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of proline metabolism' + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hyperprolinemia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Hyperprolinemia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hyperprolinemia type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251957 Label: Anaplastic ganglioglioma - 'Anaplastic ganglioglioma' SubClassOf 'disease' - 'Anaplastic ganglioglioma' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' + 'Anaplastic ganglioglioma' SubClassOf 'disease' + 'Anaplastic ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_317546 Label: homeobox C13 - 'homeobox C13' SubClassOf 'gene' - 'homeobox C13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' + 'homeobox C13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pure hair and nail ectodermal dysplasia' + 'homeobox C13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox C13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79105 Label: Myxofibrosarcoma - 'Myxofibrosarcoma' SubClassOf 'part_of' some 'Muscular tumor' - 'Myxofibrosarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myxofibrosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Myxofibrosarcoma' SubClassOf 'disease' - 'Myxofibrosarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Myxofibrosarcoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Myxofibrosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myxofibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular tumor' + 'Myxofibrosarcoma' SubClassOf 'disease' + 'Myxofibrosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myxofibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_79102 Label: Thyrotoxic periodic paralysis - 'Thyrotoxic periodic paralysis' SubClassOf 'disease' - 'Thyrotoxic periodic paralysis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Thyrotoxic periodic paralysis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thyrotoxic periodic paralysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thyrotoxic periodic paralysis' SubClassOf 'has_inheritance' some 'sporadic' - 'Thyrotoxic periodic paralysis' SubClassOf 'part_of' some 'Periodic paralysis' + 'Thyrotoxic periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thyrotoxic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Thyrotoxic periodic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thyrotoxic periodic paralysis' SubClassOf 'disease' + 'Thyrotoxic periodic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thyrotoxic periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_376942 Label: xylosyltransferase I - 'xylosyltransferase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desbuquois syndrome' - 'xylosyltransferase I' SubClassOf 'gene' - 'xylosyltransferase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'XYLT1-CDG' + 'xylosyltransferase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12"^^http://www.w3.org/2001/XMLSchema#string + 'xylosyltransferase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'XYLT1-CDG' + 'xylosyltransferase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Desbuquois syndrome' + 'xylosyltransferase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_140459 Label: Autosomal recessive hereditary demyelinating motor and sensory neuropathy - 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'group of disorders' + 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122607 Label: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysautonomia' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein' SubClassOf 'gene' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysautonomia' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_247638 Label: Prenatal benign hypophosphatasia - 'Prenatal benign hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Prenatal benign hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Prenatal benign hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Prenatal benign hypophosphatasia' SubClassOf 'clinical subtype' - 'Prenatal benign hypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' + 'Prenatal benign hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' + 'Prenatal benign hypophosphatasia' SubClassOf 'clinical subtype' + 'Prenatal benign hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Prenatal benign hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Prenatal benign hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79106 Label: Eiken syndrome - 'Eiken syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Eiken syndrome' SubClassOf 'malformation syndrome' - 'Eiken syndrome' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' - 'Eiken syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Eiken syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Eiken syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Eiken syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Eiken syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Eiken syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Eiken syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Eiken syndrome' SubClassOf 'malformation syndrome' + 'Eiken syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Eiken syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_122605 Label: indian hedgehog - 'indian hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocapitofemoral dysplasia' - 'indian hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A1' - 'indian hedgehog' SubClassOf 'gene' + 'indian hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'indian hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocapitofemoral dysplasia' + 'indian hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A1' + 'indian hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79107 Label: Developmental malformations - deafness - dystonia - 'Developmental malformations - deafness - dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Developmental malformations - deafness - dystonia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Developmental malformations - deafness - dystonia' SubClassOf 'malformation syndrome' - 'Developmental malformations - deafness - dystonia' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' - 'Developmental malformations - deafness - dystonia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental malformations - deafness - dystonia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Developmental malformations - deafness - dystonia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Developmental malformations - deafness - dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Developmental malformations - deafness - dystonia' SubClassOf 'malformation syndrome' + 'Developmental malformations - deafness - dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Developmental malformations - deafness - dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Developmental malformations - deafness - dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Developmental malformations - deafness - dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Developmental malformations - deafness - dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental malformations - deafness - dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122614 Label: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Incontinentia pigmenti' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'gene' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrotic ectodermal dysplasia with immunodeficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Incontinentia pigmenti' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrotic ectodermal dysplasia with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_140465 Label: Autosomal dominant distal hereditary motor neuropathy - 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'group of disorders' + 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_51636 Label: WHIM syndrome - 'WHIM syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'WHIM syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'WHIM syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' - 'WHIM syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'WHIM syndrome' SubClassOf 'disease' - 'WHIM syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'WHIM syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'WHIM syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'WHIM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'WHIM syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.023"^^http://www.w3.org/2001/XMLSchema#string) + 'WHIM syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'WHIM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'WHIM syndrome' SubClassOf 'disease' + 'WHIM syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'WHIM syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'WHIM syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'WHIM syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_94080 Label: Non-secreting paraganglioma - 'Non-secreting paraganglioma' SubClassOf 'part_of' some 'Tumor of endocrine glands' - 'Non-secreting paraganglioma' SubClassOf 'disease' - 'Non-secreting paraganglioma' SubClassOf 'part_of' some 'Rare endocrine disease' + 'Non-secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of endocrine glands' + 'Non-secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare endocrine disease' + 'Non-secreting paraganglioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140462 Label: X-linked recessive hereditary axonal motor and sensory neuropathy - 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'group of disorders' + 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94083 Label: Partington syndrome - 'Partington syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Partington syndrome' SubClassOf 'malformation syndrome' - 'Partington syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Partington syndrome' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Partington syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Partington syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Partington syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Partington syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Partington syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Partington syndrome' SubClassOf 'malformation syndrome' + 'Partington syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Partington syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_180772 Label: Rare disease with autism - 'Rare disease with autism' SubClassOf 'group of disorders' + 'Rare disease with autism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168122 Label: solute carrier family 16 (monocarboxylate transporter), member 1 - 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metabolic myopathy due to lactate transporter defect' - 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf 'gene' - 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Exercise-induced hyperinsulinism' + 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metabolic myopathy due to lactate transporter defect' + 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Exercise-induced hyperinsulinism' + 'solute carrier family 16 (monocarboxylate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_94087 Label: Cytophagic histiocytic panniculitis - 'Cytophagic histiocytic panniculitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cytophagic histiocytic panniculitis' SubClassOf 'disease' - 'Cytophagic histiocytic panniculitis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Cytophagic histiocytic panniculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Cytophagic histiocytic panniculitis' SubClassOf 'disease' + 'Cytophagic histiocytic panniculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cytophagic histiocytic panniculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_119990 Label: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 - 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf 'gene' - 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' - 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive malignant osteopetrosis' + 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_94086 Label: Blue diaper syndrome - 'Blue diaper syndrome' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Blue diaper syndrome' SubClassOf 'disease' - 'Blue diaper syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Blue diaper syndrome' SubClassOf 'disease' + 'Blue diaper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_94089 Label: Pseudohypoparathyroidism type 1B - 'Pseudohypoparathyroidism type 1B' SubClassOf 'disease' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'disease' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoparathyroidism type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoparathyroidism' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudohypoparathyroidism type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudohypoparathyroidism type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_180776 Label: Non-syndromic diaphragmatic or thoracic malformation - 'Non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'group of disorders' + 'Non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_94088 Label: Hereditary renal hypouricemia - 'Hereditary renal hypouricemia' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Hereditary renal hypouricemia' SubClassOf 'malformation syndrome' - 'Hereditary renal hypouricemia' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Hereditary renal hypouricemia' SubClassOf 'malformation syndrome' + 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_251962 Label: Papillary glioneuronal tumor - 'Papillary glioneuronal tumor' SubClassOf 'disease' - 'Papillary glioneuronal tumor' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' + 'Papillary glioneuronal tumor' SubClassOf 'disease' + 'Papillary glioneuronal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_180779 Label: Syndromic diaphragmatic or thoracic malformation - 'Syndromic diaphragmatic or thoracic malformation' SubClassOf 'group of disorders' + 'Syndromic diaphragmatic or thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70592 Label: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency - 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'disease' - 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'disease' + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_122773 Label: potassium voltage-gated channel, Isk-related family, member 3 - 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf 'Candidate gene tested in' some 'Hypokalemic periodic paralysis' - 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf 'gene' - 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf 'Candidate gene tested in' some 'Hypokalemic periodic paralysis' + 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'potassium voltage-gated channel, Isk-related family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_70593 Label: Immunodeficiency due to selective anti-polysaccharide antibody deficiency - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'part_of' some 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'disease' - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'disease' + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_137653 Label: Microcephaly - digital anomalies - intellectual disability - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'malformation syndrome' - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'malformation syndrome' + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - digital anomalies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_70594 Label: Dopa-responsive dystonia due to sepiapterin reductase deficiency - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'part_of' some 'Disorder of pterin metabolism' - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'part_of' some 'Dopa-responsive dystonia' - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disease' - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disease' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pterin metabolism' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dopa-responsive dystonia' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_70595 Label: Sensory ataxic neuropathy - dysarthria - ophthalmoparesis - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'disease' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'part_of' some 'Ataxia neuropathy spectrum' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'disease' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ataxia neuropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_122777 Label: potassium voltage-gated channel, subfamily H (eag-related), member 2 - 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' - 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf 'gene' + 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.1"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, subfamily H (eag-related), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70590 Label: Infantile apnea - 'Infantile apnea' SubClassOf 'disease' - 'Infantile apnea' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Infantile apnea' SubClassOf 'disease' + 'Infantile apnea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_70591 Label: Chronic thromboembolic pulmonary hypertension - 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'disease' - 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'part_of' some 'Rare pulmonary hypertension' - 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Chronic thromboembolic pulmonary hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary hypertension' + 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'disease' + 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic thromboembolic pulmonary hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic thromboembolic pulmonary hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "55.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic thromboembolic pulmonary hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_263553 Label: Peeling skin syndrome type B - 'Peeling skin syndrome type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Peeling skin syndrome type B' SubClassOf 'clinical subtype' - 'Peeling skin syndrome type B' SubClassOf 'part_of' some 'Generalized peeling skin syndrome' - 'Peeling skin syndrome type B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peeling skin syndrome type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Peeling skin syndrome type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peeling skin syndrome type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized peeling skin syndrome' + 'Peeling skin syndrome type B' SubClassOf 'clinical subtype' + 'Peeling skin syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peeling skin syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peeling skin syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_137658 Label: Microcephaly - intellectual disability - phalangeal and neurological anomalies - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'malformation syndrome' - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'malformation syndrome' + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122770 Label: potassium voltage-gated channel, Isk-related family, member 2 - 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf 'gene' - 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel, Isk-related family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79143 Label: Congenital anonychia - 'Congenital anonychia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital anonychia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Congenital anonychia' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Congenital anonychia' SubClassOf 'disease' + 'Congenital anonychia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital anonychia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Congenital anonychia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Congenital anonychia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_388 Label: Hirschsprung disease - 'Hirschsprung disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Hirschsprung disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hirschsprung disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Hirschsprung disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hirschsprung disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hirschsprung disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hirschsprung disease' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Hirschsprung disease' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Hirschsprung disease' SubClassOf 'disease' + 'Hirschsprung disease' SubClassOf 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(http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410158) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hirschsprung disease' SubClassOf 'disease' + 'Hirschsprung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79142 Label: Familial Dupuytren contracture - 'Familial Dupuytren contracture' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Familial Dupuytren contracture' SubClassOf 'part_of' some 'Superficial fibromatosis' - 'Familial Dupuytren contracture' SubClassOf 'disease' + 'Familial Dupuytren contracture' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Familial Dupuytren contracture' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial fibromatosis' + 'Familial Dupuytren contracture' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_389 Label: Langerhans cell histiocytosis - 'Langerhans cell histiocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Langerhans cell histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Langerhans cell histiocytosis' SubClassOf 'group of disorders' + 'Langerhans cell histiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Langerhans cell histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Langerhans cell histiocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Langerhans cell histiocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289380 Label: Myosclerosis - 'Myosclerosis' SubClassOf 'disease' - 'Myosclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Myosclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Myosclerosis' SubClassOf 'part_of' some 'Non-dystrophic myopathy with collagen 6 anomaly' - 'Myosclerosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Myosclerosis' SubClassOf 'disease' + 'Myosclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy with collagen 6 anomaly' + 'Myosclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Myosclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79145 Label: Dowling-Degos disease - 'Dowling-Degos disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Dowling-Degos disease' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dowling-Degos disease' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Dowling-Degos disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Dowling-Degos disease' SubClassOf 'part_of' some 'Disorder of fucoglycosan synthesis' - 'Dowling-Degos disease' SubClassOf 'disease' - 'Dowling-Degos disease' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Dowling-Degos disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Dowling-Degos disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dowling-Degos disease' SubClassOf 'disease' + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dowling-Degos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fucoglycosan synthesis' + 'Dowling-Degos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_386 Label: Hepatic cystic hamartoma - 'Hepatic cystic hamartoma' SubClassOf 'part_of' some 'Rare hepatic tumor' - 'Hepatic cystic hamartoma' SubClassOf 'disease' + 'Hepatic cystic hamartoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' + 'Hepatic cystic hamartoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79144 Label: Congenital onychodysplasia - 'Congenital onychodysplasia' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Congenital onychodysplasia' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Congenital onychodysplasia' SubClassOf 'disease' + 'Congenital onychodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Congenital onychodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Congenital onychodysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263548 Label: Peeling skin syndrome type A - 'Peeling skin syndrome type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peeling skin syndrome type A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Peeling skin syndrome type A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Peeling skin syndrome type A' SubClassOf 'part_of' some 'Generalized peeling skin syndrome' - 'Peeling skin syndrome type A' SubClassOf 'clinical subtype' + 'Peeling skin syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Peeling skin syndrome type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peeling skin syndrome type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peeling skin syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peeling skin syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized peeling skin syndrome' + 'Peeling skin syndrome type A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79141 Label: Hereditary painful callosities - 'Hereditary painful callosities' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' - 'Hereditary painful callosities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary painful callosities' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Hereditary painful callosities' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary painful callosities' SubClassOf 'disease' + 'Hereditary painful callosities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary painful callosities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal palmoplantar keratoderma' + 'Hereditary painful callosities' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary painful callosities' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79140 Label: Cutaneous neuroendocrine carcinoma - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'disease' - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cutaneous neuroendocrine carcinoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.378"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf 'disease' + 'Cutaneous neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.86"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cutaneous neuroendocrine carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_380 Label: Greig cephalopolysyndactyly syndrome - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Greig cephalopolysyndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Greig cephalopolysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Greig cephalopolysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Greig cephalopolysyndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_70589 Label: Bronchopulmonary dysplasia - 'Bronchopulmonary dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Bronchopulmonary dysplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Bronchopulmonary dysplasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Bronchopulmonary dysplasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Bronchopulmonary dysplasia' SubClassOf 'malformation syndrome' - 'Bronchopulmonary dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Bronchopulmonary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bronchopulmonary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Bronchopulmonary dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bronchopulmonary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Bronchopulmonary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bronchopulmonary dysplasia' SubClassOf 'malformation syndrome' + 'Bronchopulmonary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_381 Label: Griscelli disease - 'Griscelli disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Griscelli disease' SubClassOf 'part_of' some 'Syndromic oculocutaneous albinism' - 'Griscelli disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Griscelli disease' SubClassOf 'disease' - 'Griscelli disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Griscelli disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Griscelli disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Griscelli disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Griscelli disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic oculocutaneous albinism' + 'Griscelli disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120507 Label: Williams Beuren syndrome chromosome region 27 - 'Williams Beuren syndrome chromosome region 27' SubClassOf 'gene' - 'Williams Beuren syndrome chromosome region 27' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79147 Label: Familial reactive perforating collagenosis - 'Familial reactive perforating collagenosis' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Familial reactive perforating collagenosis' SubClassOf 'disease' + 'Familial reactive perforating collagenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Familial reactive perforating collagenosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_71517 Label: Rapid-onset dystonia-parkinsonism - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare genetic parkinsonian disorder' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'sporadic' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian disorder' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'disease' + 'Rapid-onset dystonia-parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian disorder' + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic parkinsonian disorder' + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'disease' + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_384 Label: Palmoplantar keratoderma-sclerodactyly syndrome - 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79146 Label: Familial progressive hyperpigmentation - 'Familial progressive hyperpigmentation' SubClassOf 'disease' - 'Familial progressive hyperpigmentation' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Familial progressive hyperpigmentation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial progressive hyperpigmentation' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Familial progressive hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Familial progressive hyperpigmentation' SubClassOf 'disease' + 'Familial progressive hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Familial progressive hyperpigmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_71518 Label: Benign paroxysmal torticollis of infancy - 'Benign paroxysmal torticollis of infancy' SubClassOf 'disease' - 'Benign paroxysmal torticollis of infancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign paroxysmal torticollis of infancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Benign paroxysmal torticollis of infancy' SubClassOf 'part_of' some 'Paroxysmal dystonia' - 'Benign paroxysmal torticollis of infancy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Benign paroxysmal torticollis of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dystonia' + 'Benign paroxysmal torticollis of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Benign paroxysmal torticollis of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Benign paroxysmal torticollis of infancy' SubClassOf 'disease' + 'Benign paroxysmal torticollis of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_385 Label: Neurodegeneration with brain iron accumulation - 'Neurodegeneration with brain iron accumulation' SubClassOf 'group of disorders' + 'Neurodegeneration with brain iron accumulation' SubClassOf 'group of disorders' + 'Neurodegeneration with brain iron accumulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurodegeneration with brain iron accumulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Neurodegeneration with brain iron accumulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neurodegeneration with brain iron accumulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurodegeneration with brain iron accumulation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79149 Label: Dermochondrocorneal dystrophy - 'Dermochondrocorneal dystrophy' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Dermochondrocorneal dystrophy' SubClassOf 'disease' - 'Dermochondrocorneal dystrophy' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Dermochondrocorneal dystrophy' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Dermochondrocorneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Dermochondrocorneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Dermochondrocorneal dystrophy' SubClassOf 'disease' + 'Dermochondrocorneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_71519 Label: Psychogenic movement disorders - 'Psychogenic movement disorders' SubClassOf 'has_prevalence' some 'Unknown' - 'Psychogenic movement disorders' SubClassOf 'has_inheritance' some 'sporadic' - 'Psychogenic movement disorders' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Psychogenic movement disorders' SubClassOf 'group of disorders' + 'Psychogenic movement disorders' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Psychogenic movement disorders' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Psychogenic movement disorders' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70588 Label: Meconium aspiration syndrome - 'Meconium aspiration syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Meconium aspiration syndrome' SubClassOf 'disease' - 'Meconium aspiration syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Meconium aspiration syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Meconium aspiration syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Meconium aspiration syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Meconium aspiration syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Meconium aspiration syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Meconium aspiration syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Meconium aspiration syndrome' SubClassOf 'disease' + 'Meconium aspiration syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.44"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_382 Label: Guanidinoacetate methyltransferase deficiency - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of creatine biosynthesis' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'disease' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'disease' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of creatine biosynthesis' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79148 Label: Elastosis perforans serpiginosa - 'Elastosis perforans serpiginosa' SubClassOf 'disease' - 'Elastosis perforans serpiginosa' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Elastosis perforans serpiginosa' SubClassOf 'disease' + 'Elastosis perforans serpiginosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_70587 Label: Infant acute respiratory distress syndrome - 'Infant acute respiratory distress syndrome' SubClassOf 'disease' - 'Infant acute respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infant acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' - 'Infant acute respiratory distress syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Infant acute respiratory distress syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Infant acute respiratory distress syndrome' SubClassOf 'disease' + 'Infant acute respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infant acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Infant acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Infant acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Infant acute respiratory distress syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infant acute respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_383 Label: X-linked mixed deafness with perilymphatic gusher - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'clinical subtype' - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'has_prevalence' some 'Unknown' + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_122763 Label: potassium voltage-gated channel, Isk-related family, member 1 - 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' - 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'gene' - 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jervell and Lange-Nielsen syndrome' + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jervell and Lange-Nielsen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276280 Label: Hemihyperplasia-multiple lipomatosis syndrome - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'malformation syndrome' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'malformation syndrome' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122768 Label: KCNE1-like - 'KCNE1-like' SubClassOf 'gene' - 'KCNE1-like' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' + 'KCNE1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3"^^http://www.w3.org/2001/XMLSchema#string + 'KCNE1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KCNE1-like' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_137667 Label: Capillary malformation - arteriovenous malformation - 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'part_of' some 'Capillary malformation' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_prevalence' some 'Unknown' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_inheritance' some 'sporadic' + 'Capillary malformation - arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Capillary malformation - arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Capillary malformation - arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Capillary malformation - arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Capillary malformation - arteriovenous malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_263543 Label: Generalized peeling skin syndrome - 'Generalized peeling skin syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized peeling skin syndrome' SubClassOf 'part_of' some 'Peeling skin syndrome' - 'Generalized peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized peeling skin syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Generalized peeling skin syndrome' SubClassOf 'disease' + 'Generalized peeling skin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Generalized peeling skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peeling skin syndrome' + 'Generalized peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized peeling skin syndrome' SubClassOf 'disease' + 'Generalized peeling skin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99657 Label: Primary dystonia, DYT2 type - 'Primary dystonia, DYT2 type' SubClassOf 'disease' - 'Primary dystonia, DYT2 type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary dystonia, DYT2 type' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary dystonia, DYT2 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Primary dystonia, DYT2 type' SubClassOf 'disease' + 'Primary dystonia, DYT2 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary dystonia, DYT2 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_158087 Label: patatin-like phospholipase domain containing 6 - 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' - 'patatin-like phospholipase domain containing 6' SubClassOf 'gene' - 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 39' - 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia - hypogonadism - choroidal dystrophy' + 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' + 'patatin-like phospholipase domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'patatin-like phospholipase domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 39' + 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia - hypogonadism - choroidal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99647 Label: Cheirospondyloenchondromatosis - 'Cheirospondyloenchondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Cheirospondyloenchondromatosis' SubClassOf 'disease' + 'Cheirospondyloenchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Cheirospondyloenchondromatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79134 Label: DEND syndrome - 'DEND syndrome' SubClassOf 'part_of' some 'Neonatal diabetes mellitus' - 'DEND syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'DEND syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'DEND syndrome' SubClassOf 'disease' - 'DEND syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'DEND syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'DEND syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DEND syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'DEND syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'DEND syndrome' SubClassOf 'disease' + 'DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'DEND syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_397 Label: Giant cell arteritis - 'Giant cell arteritis' SubClassOf 'part_of' some 'Rare vascular disease' - 'Giant cell arteritis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Giant cell arteritis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Giant cell arteritis' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Giant cell arteritis' SubClassOf 'has_prevalence' some 'Unknown' - 'Giant cell arteritis' SubClassOf 'disease' - 'Giant cell arteritis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Giant cell arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Giant cell arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Giant cell arteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Giant cell arteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Giant cell arteritis' SubClassOf 'disease' + 'Giant cell arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79133 Label: Focal facial dermal dysplasia type I - 'Focal facial dermal dysplasia type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia type I' SubClassOf 'clinical subtype' - 'Focal facial dermal dysplasia type I' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' - 'Focal facial dermal dysplasia type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Focal facial dermal dysplasia type I' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_71505 Label: Cancer-associated retinopathy - 'Cancer-associated retinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Cancer-associated retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cancer-associated retinopathy' SubClassOf 'disease' - 'Cancer-associated retinopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Cancer-associated retinopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cancer-associated retinopathy' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' + 'Cancer-associated retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cancer-associated retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cancer-associated retinopathy' SubClassOf 'disease' + 'Cancer-associated retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Cancer-associated retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79132 Label: Sparse hair - short stature - skin anomalies - 'Sparse hair - short stature - skin anomalies' SubClassOf 'malformation syndrome' - 'Sparse hair - short stature - skin anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sparse hair - short stature - skin anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sparse hair - short stature - skin anomalies' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Sparse hair - short stature - skin anomalies' SubClassOf 'malformation syndrome' + 'Sparse hair - short stature - skin anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sparse hair - short stature - skin anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Sparse hair - short stature - skin anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sparse hair - short stature - skin anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_399 Label: Huntington disease - 'Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Huntington disease' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Huntington disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' - 'Huntington disease' SubClassOf 'disease' - 'Huntington disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Huntington disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' + 'Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf 'disease' + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.61"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.046"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_314555 Label: Craniofacial dysplasia-osteopenia syndrome - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'part_of' some 'Cranial malformation' + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_173057 Label: solute carrier family 29 (equilibrative nucleoside transporter), member 3 - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Faisalabad histiocytosis' - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'H syndrome' - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'gene' - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysosteosclerosis' - 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sinus histiocytosis with massive lymphadenopathy' + 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'H syndrome' + 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 29 (equilibrative nucleoside transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysosteosclerosis' Class: http://www.orpha.net/ORDO/Orphanet_69723 Label: Tyrosinemia type 3 - 'Tyrosinemia type 3' SubClassOf 'disease' - 'Tyrosinemia type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tyrosinemia type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tyrosinemia type 3' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Tyrosinemia type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Tyrosinemia type 3' SubClassOf 'disease' + 'Tyrosinemia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tyrosinemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Tyrosinemia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tyrosinemia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tyrosinemia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_376877 Label: sodium leak channel, non-selective - 'sodium leak channel, non-selective' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' - 'sodium leak channel, non-selective' SubClassOf 'gene' + 'sodium leak channel, non-selective' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' + 'sodium leak channel, non-selective' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium leak channel, non-selective' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_390 Label: Histoplasmosis - 'Histoplasmosis' SubClassOf 'disease' - 'Histoplasmosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Histoplasmosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Histoplasmosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391 Label: Hodgkin lymphoma, classical - 'Hodgkin lymphoma, classical' SubClassOf 'part_of' some 'Hodgkin lymphoma' - 'Hodgkin lymphoma, classical' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hodgkin lymphoma, classical' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hodgkin lymphoma, classical' SubClassOf 'disease' + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "22.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hodgkin lymphoma, classical' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma' + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hodgkin lymphoma, classical' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma, classical' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79139 Label: Japanese encephalitis - 'Japanese encephalitis' SubClassOf 'disease' - 'Japanese encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Japanese encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Japanese encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Japanese encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Japanese encephalitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Japanese encephalitis' SubClassOf 'disease' + 'Japanese encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Japanese encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Japanese encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_70578 Label: Adult acute respiratory distress syndrome - 'Adult acute respiratory distress syndrome' SubClassOf 'disease' - 'Adult acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' - 'Adult acute respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult acute respiratory distress syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Adult acute respiratory distress syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "51.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Adult acute respiratory distress syndrome' SubClassOf 'disease' + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult acute respiratory distress syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "64.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult acute respiratory distress syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_392 Label: Holt-Oram syndrome - 'Holt-Oram syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Holt-Oram syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holt-Oram syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holt-Oram syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Holt-Oram syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Holt-Oram syndrome' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Holt-Oram syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holt-Oram syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Holt-Oram syndrome' SubClassOf 'malformation syndrome' + 'Holt-Oram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holt-Oram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holt-Oram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Holt-Oram syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Holt-Oram syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79138 Label: Bickerstaff brainstem encephalitis - 'Bickerstaff brainstem encephalitis' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Bickerstaff brainstem encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Bickerstaff brainstem encephalitis' SubClassOf 'part_of' some 'Regional variant of Guillain-Barr� syndrome' - 'Bickerstaff brainstem encephalitis' SubClassOf 'disease' - 'Bickerstaff brainstem encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Bickerstaff brainstem encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Bickerstaff brainstem encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bickerstaff brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Regional variant of Guillain-Barr� syndrome' + 'Bickerstaff brainstem encephalitis' SubClassOf 'disease' + 'Bickerstaff brainstem encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bickerstaff brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_393 Label: 46,XX testicular disorder of sex development - '46,XX testicular disorder of sex development' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - '46,XX testicular disorder of sex development' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - '46,XX testicular disorder of sex development' SubClassOf 'malformation syndrome' - '46,XX testicular disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XX testicular disorder of sex development' SubClassOf 'part_of' some '46,XX disorder of gonadal development' + '46,XX testicular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '46,XX testicular disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + '46,XX testicular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XX testicular disorder of sex development' SubClassOf 'malformation syndrome' + '46,XX testicular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XX testicular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_79137 Label: Generalized epilepsy - paroxysmal dyskinesia - 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'disease' - 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' + 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'disease' + 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_394 Label: Classical homocystinuria - 'Classical homocystinuria' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Classical homocystinuria' SubClassOf 'disease' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Classical homocystinuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Classical homocystinuria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Lens position anomaly' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Classical homocystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classical homocystinuria' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Classical homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classical homocystinuria' SubClassOf 'disease' + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Classical homocystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Classical homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410171) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "55.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79136 Label: Episodic ataxia type 4 - 'Episodic ataxia type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Episodic ataxia type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Episodic ataxia type 4' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia type 4' SubClassOf 'disease' - 'Episodic ataxia type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Episodic ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Episodic ataxia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Episodic ataxia type 4' SubClassOf 'disease' + 'Episodic ataxia type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Episodic ataxia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_395 Label: Homocystinuria due to methylene tetrahydrofolate reductase deficiency - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disease' - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disease' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79135 Label: Episodic ataxia type 3 - 'Episodic ataxia type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Episodic ataxia type 3' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Episodic ataxia type 3' SubClassOf 'disease' - 'Episodic ataxia type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Episodic ataxia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Episodic ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Episodic ataxia type 3' SubClassOf 'disease' + 'Episodic ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Episodic ataxia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_396 Label: Chronic hiccup - 'Chronic hiccup' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chronic hiccup' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic hiccup' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Chronic hiccup' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Chronic hiccup' SubClassOf 'disease' + 'Chronic hiccup' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic hiccup' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic hiccup' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Chronic hiccup' SubClassOf 'disease' + 'Chronic hiccup' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_276252 Label: Xeroderma pigmentosum complementation group B - 'Xeroderma pigmentosum complementation group B' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'part_of' some 'Xeroderma pigmentosum-Cockayne syndrome complex' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group B' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Xeroderma pigmentosum complementation group B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum complementation group B' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum complementation group B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum complementation group B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98196 Label: Malformation syndrome with hamartosis - 'Malformation syndrome with hamartosis' SubClassOf 'group of disorders' + 'Malformation syndrome with hamartosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_208447 Label: Bilateral generalized polymicrogyria - 'Bilateral generalized polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' - 'Bilateral generalized polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral generalized polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' + 'Bilateral generalized polymicrogyria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_122756 Label: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) - 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary continuous muscle fiber activity' - 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' - 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'gene' - 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 1' + 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary continuous muscle fiber activity' + 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' + 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 1' + 'potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122751 Label: Kallmann syndrome 1 sequence - 'Kallmann syndrome 1 sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'Kallmann syndrome 1 sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'Kallmann syndrome 1 sequence' SubClassOf 'gene' + 'Kallmann syndrome 1 sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.32"^^http://www.w3.org/2001/XMLSchema#string + 'Kallmann syndrome 1 sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Kallmann syndrome 1 sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'Kallmann syndrome 1 sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_137631 Label: Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'disease' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'disease' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood' Class: http://www.orpha.net/ORDO/Orphanet_208444 Label: Bilateral frontal polymicrogyria - 'Bilateral frontal polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' - 'Bilateral frontal polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral frontal polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral frontal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_99646 Label: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'disease' + 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289362 Label: Non central nervous system-localized embryonal carcinoma - 'Non central nervous system-localized embryonal carcinoma' SubClassOf 'part_of' some 'Embryonal carcinoma' - 'Non central nervous system-localized embryonal carcinoma' SubClassOf 'clinical subtype' + 'Non central nervous system-localized embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal carcinoma' + 'Non central nervous system-localized embryonal carcinoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_166722 Label: CDGSH iron sulfur domain 2 - 'CDGSH iron sulfur domain 2' SubClassOf 'gene' - 'CDGSH iron sulfur domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolfram syndrome' + 'CDGSH iron sulfur domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CDGSH iron sulfur domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'CDGSH iron sulfur domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolfram syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99645 Label: Dappled diaphyseal dysplasia - 'Dappled diaphyseal dysplasia' SubClassOf 'part_of' some 'Chondrodysplasia punctata' - 'Dappled diaphyseal dysplasia' SubClassOf 'disease' + 'Dappled diaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Dappled diaphyseal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137634 Label: Overgrowth - macrocephaly - facial dysmorphism - 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'malformation syndrome' - 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'malformation syndrome' + 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99642 Label: Spondyloepimetaphyseal dysplasia, Handigodu type - 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_94145 Label: Autosomal dominant cerebellar ataxia type 1 - 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_353308 Label: Pyruvate carboxylase deficiency, infantile type - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'clinical subtype' - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'part_of' some 'Pyruvate carboxylase deficiency' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate carboxylase deficiency' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_289365 Label: Familial vesicoureteral reflux - 'Familial vesicoureteral reflux' SubClassOf 'malformation syndrome' - 'Familial vesicoureteral reflux' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial vesicoureteral reflux' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial vesicoureteral reflux' SubClassOf 'part_of' some 'Genetic urogenital tract malformation' - 'Familial vesicoureteral reflux' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Familial vesicoureteral reflux' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Familial vesicoureteral reflux' SubClassOf 'malformation syndrome' + 'Familial vesicoureteral reflux' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tract malformation' + 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Familial vesicoureteral reflux' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_276255 Label: Xeroderma pigmentosum complementation group C - 'Xeroderma pigmentosum complementation group C' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum complementation group C' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group C' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group C' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group C' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Xeroderma pigmentosum complementation group C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum complementation group C' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum complementation group C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_137639 Label: Leukoencephalopathy - ataxia - hypodontia - hypomyelination - 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'part_of' some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' - 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'disease' - 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'disease' + 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_276258 Label: Xeroderma pigmentosum complementation group D - 'Xeroderma pigmentosum complementation group D' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'part_of' some 'Xeroderma pigmentosum-Cockayne syndrome complex' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Xeroderma pigmentosum complementation group D' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Xeroderma pigmentosum complementation group D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group D' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum complementation group D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum complementation group D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum complementation group D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_166720 Label: integrin, alpha 7 - 'integrin, alpha 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with integrin alpha-7 deficiency' - 'integrin, alpha 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'integrin, alpha 7' SubClassOf 'gene' + 'integrin, alpha 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with integrin alpha-7 deficiency' + 'integrin, alpha 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'integrin, alpha 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_69736 Label: Acute bilateral depigmentation of the iris - 'Acute bilateral depigmentation of the iris' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Acute bilateral depigmentation of the iris' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute bilateral depigmentation of the iris' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acute bilateral depigmentation of the iris' SubClassOf 'disease' + 'Acute bilateral depigmentation of the iris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Acute bilateral depigmentation of the iris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute bilateral depigmentation of the iris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Acute bilateral depigmentation of the iris' SubClassOf 'disease' + 'Acute bilateral depigmentation of the iris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_353314 Label: Pyruvate carboxylase deficiency, severe neonatal type - 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'part_of' some 'Pyruvate carboxylase deficiency' - 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate carboxylase deficiency' + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_35063 Label: Fulminant viral hepatitis - 'Fulminant viral hepatitis' SubClassOf 'part_of' some 'Rare viral disease' - 'Fulminant viral hepatitis' SubClassOf 'disease' - 'Fulminant viral hepatitis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Fulminant viral hepatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Fulminant viral hepatitis' SubClassOf 'disease' + 'Fulminant viral hepatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_69737 Label: Bosley-Salih-Alorainy syndrome - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'malformation syndrome' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Bosley-Salih-Alorainy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bosley-Salih-Alorainy syndrome' SubClassOf 'malformation syndrome' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Bosley-Salih-Alorainy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bosley-Salih-Alorainy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_35064 Label: Lethal idiopathic viral infection - 'Lethal idiopathic viral infection' SubClassOf 'group of disorders' + 'Lethal idiopathic viral infection' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_35061 Label: Idiopathic recurrent and disabling cutaneous herpes - 'Idiopathic recurrent and disabling cutaneous herpes' SubClassOf 'part_of' some 'Rare viral disease' - 'Idiopathic recurrent and disabling cutaneous herpes' SubClassOf 'disease' + 'Idiopathic recurrent and disabling cutaneous herpes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Idiopathic recurrent and disabling cutaneous herpes' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_69735 Label: Hypotrichosis - lymphedema - telangiectasia - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'disease' + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'disease' + 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35062 Label: Idiopathic infection disseminated by cytomegalovirus - 'Idiopathic infection disseminated by cytomegalovirus' SubClassOf 'part_of' some 'Rare viral disease' - 'Idiopathic infection disseminated by cytomegalovirus' SubClassOf 'disease' + 'Idiopathic infection disseminated by cytomegalovirus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Idiopathic infection disseminated by cytomegalovirus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314566 Label: Primary progressive apraxia of speech - 'Primary progressive apraxia of speech' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary progressive apraxia of speech' SubClassOf 'disease' - 'Primary progressive apraxia of speech' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Primary progressive apraxia of speech' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary progressive apraxia of speech' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary progressive apraxia of speech' SubClassOf 'disease' + 'Primary progressive apraxia of speech' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary progressive apraxia of speech' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary progressive apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_166715 Label: G elongation factor, mitochondrial 1 - 'G elongation factor, mitochondrial 1' SubClassOf 'gene' - 'G elongation factor, mitochondrial 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' + 'G elongation factor, mitochondrial 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25"^^http://www.w3.org/2001/XMLSchema#string + 'G elongation factor, mitochondrial 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G elongation factor, mitochondrial 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' Class: http://www.orpha.net/ORDO/Orphanet_35065 Label: Idiopathic severe pneumococcemia - 'Idiopathic severe pneumococcemia' SubClassOf 'disease' - 'Idiopathic severe pneumococcemia' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Idiopathic severe pneumococcemia' SubClassOf 'disease' + 'Idiopathic severe pneumococcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_35066 Label: Idiopathic cutaneous and mucosal candidiasis - 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79124 Label: Hepatic veno-occlusive disease - immunodeficiency - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'part_of' some 'Rare genetic hepatic disease' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'disease' + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hepatic disease' + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208441 Label: Bilateral parasagittal parieto-occipital polymicrogyria - 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' - 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' + 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79127 Label: Respiratory bronchiolitis - interstitial lung disease - 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'disease' - 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' + 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'disease' + 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Respiratory bronchiolitis - interstitial lung disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_35069 Label: Infantile neuroaxonal dystrophy - 'Infantile neuroaxonal dystrophy' SubClassOf 'part_of' some 'PLA2G6-associated neurodegeneration' - 'Infantile neuroaxonal dystrophy' SubClassOf 'disease' - 'Infantile neuroaxonal dystrophy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Infantile neuroaxonal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile neuroaxonal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Infantile neuroaxonal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile neuroaxonal dystrophy' SubClassOf 'disease' + 'Infantile neuroaxonal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Infantile neuroaxonal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile neuroaxonal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile neuroaxonal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PLA2G6-associated neurodegeneration' + 'Infantile neuroaxonal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79126 Label: Acute interstitial pneumonia - 'Acute interstitial pneumonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute interstitial pneumonia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acute interstitial pneumonia' SubClassOf 'disease' - 'Acute interstitial pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' + 'Acute interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Acute interstitial pneumonia' SubClassOf 'disease' + 'Acute interstitial pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute interstitial pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Acute interstitial pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79129 Label: Trichodysplasia - amelogenesis imperfecta - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'malformation syndrome' - 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'malformation syndrome' + 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79128 Label: Lymphoid interstitial pneumonia - 'Lymphoid interstitial pneumonia' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphoid interstitial pneumonia' SubClassOf 'disease' - 'Lymphoid interstitial pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Lymphoid interstitial pneumonia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphoid interstitial pneumonia' SubClassOf 'has_inheritance' some 'sporadic' + 'Lymphoid interstitial pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphoid interstitial pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lymphoid interstitial pneumonia' SubClassOf 'disease' + 'Lymphoid interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_367095 Label: BUB3 mitotic checkpoint protein - 'BUB3 mitotic checkpoint protein' SubClassOf 'gene' - 'BUB3 mitotic checkpoint protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB3 mitotic checkpoint protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'BUB3 mitotic checkpoint protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BUB3 mitotic checkpoint protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276264 Label: Xeroderma pigmentosum complementation group F - 'Xeroderma pigmentosum complementation group F' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group F' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group F' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum complementation group F' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group F' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum complementation group F' SubClassOf 'part_of' some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum complementation group F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum complementation group F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum complementation group F' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum-Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_122744 Label: junction plakoglobin - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Naxos disease' - 'junction plakoglobin' SubClassOf 'gene' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal acantholytic epidermolysis bullosa' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Naxos disease' + 'junction plakoglobin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal acantholytic epidermolysis bullosa' + 'junction plakoglobin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276261 Label: Xeroderma pigmentosum complementation group E - 'Xeroderma pigmentosum complementation group E' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group E' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group E' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group E' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum complementation group E' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Xeroderma pigmentosum complementation group E' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum complementation group E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum complementation group E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_94150 Label: Anonychia congenita totalis - 'Anonychia congenita totalis' SubClassOf 'clinical subtype' - 'Anonychia congenita totalis' SubClassOf 'part_of' some 'Congenital anonychia' + 'Anonychia congenita totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anonychia' + 'Anonychia congenita totalis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_289371 Label: roundabout, axon guidance receptor, homolog 2 (Drosophila) - 'roundabout, axon guidance receptor, homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vesicoureteral reflux' - 'roundabout, axon guidance receptor, homolog 2 (Drosophila)' SubClassOf 'gene' + 'roundabout, axon guidance receptor, homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'roundabout, axon guidance receptor, homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vesicoureteral reflux' + 'roundabout, axon guidance receptor, homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_137646 Label: Bardet-Biedl syndrome 12 - 'Bardet-Biedl syndrome 12' SubClassOf 'gene' - 'Bardet-Biedl syndrome 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bardet-Biedl syndrome 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_69739 Label: Athabaskan brainstem dysgenesis syndrome - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'disease' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'disease' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_289375 Label: SRY (sex determining region Y)-box 17 - 'SRY (sex determining region Y)-box 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vesicoureteral reflux' - 'SRY (sex determining region Y)-box 17' SubClassOf 'gene' + 'SRY (sex determining region Y)-box 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vesicoureteral reflux' Class: http://www.orpha.net/ORDO/Orphanet_166731 Label: thyroid stimulating hormone, beta - 'thyroid stimulating hormone, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated thyroid-stimulating hormone deficiency' - 'thyroid stimulating hormone, beta' SubClassOf 'gene' + 'thyroid stimulating hormone, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated thyroid-stimulating hormone deficiency' + 'thyroid stimulating hormone, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid stimulating hormone, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289377 Label: Early-onset myopathy with fatal cardiomyopathy - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of titin' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'disease' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'disease' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of titin' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_276267 Label: Xeroderma pigmentosum complementation group G - 'Xeroderma pigmentosum complementation group G' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group G' SubClassOf 'part_of' some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum complementation group G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum complementation group G' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum complementation group G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_94148 Label: Autosomal dominant cerebellar ataxia type 3 - 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'group of disorders' - 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_69745 Label: Warty dyskeratoma - 'Warty dyskeratoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Warty dyskeratoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Warty dyskeratoma' SubClassOf 'disease' - 'Warty dyskeratoma' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Warty dyskeratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Warty dyskeratoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Warty dyskeratoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Warty dyskeratoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_353327 Label: Congenital myasthenic syndromes with glycosylation defect - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'etiological subtype' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'etiological subtype' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94147 Label: Spinocerebellar ataxia type 7 - 'Spinocerebellar ataxia type 7' SubClassOf 'disease' - 'Spinocerebellar ataxia type 7' SubClassOf 'part_of' some 'Spinocerebellar ataxia with oculomotor anomaly' - 'Spinocerebellar ataxia type 7' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 2' - 'Spinocerebellar ataxia type 7' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 7' SubClassOf 'disease' + 'Spinocerebellar ataxia type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spinocerebellar ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Spinocerebellar ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Spinocerebellar ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 2' + 'Spinocerebellar ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia with oculomotor anomaly' + 'Spinocerebellar ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_314572 Label: Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'disease' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'disease' + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_94149 Label: Autosomal dominant cerebellar ataxia type 4 - 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_71526 Label: Obesity due to pro-opiomelanocortin deficiency - 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'part_of' some 'Obesity due to congenital leptin resistance' - 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'malformation syndrome' - 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Obesity due to congenital leptin resistance' + 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314575 Label: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263558 Label: Generalized peeling skin syndrome type C - 'Generalized peeling skin syndrome type C' SubClassOf 'clinical subtype' - 'Generalized peeling skin syndrome type C' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized peeling skin syndrome type C' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Generalized peeling skin syndrome type C' SubClassOf 'part_of' some 'Generalized peeling skin syndrome' + 'Generalized peeling skin syndrome type C' SubClassOf 'clinical subtype' + 'Generalized peeling skin syndrome type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized peeling skin syndrome' + 'Generalized peeling skin syndrome type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized peeling skin syndrome type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized peeling skin syndrome type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Generalized peeling skin syndrome type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_69744 Label: Circumscribed palmoplantar hypokeratosis - 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'disease' - 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'disease' + 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Circumscribed palmoplantar hypokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Circumscribed palmoplantar hypokeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Circumscribed palmoplantar hypokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_166726 Label: ubiquinol-cytochrome c reductase binding protein - 'ubiquinol-cytochrome c reductase binding protein' SubClassOf 'gene' - 'ubiquinol-cytochrome c reductase binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquinol-cytochrome c reductase binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_353320 Label: Pyruvate carboxylase deficiency, benign type - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'part_of' some 'Pyruvate carboxylase deficiency' - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'clinical subtype' - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pyruvate carboxylase deficiency, benign type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate carboxylase deficiency, benign type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate carboxylase deficiency' + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_71528 Label: Obesity due to prohormone convertase I deficiency - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'part_of' some 'Obesity due to congenital leptin resistance' - 'Obesity due to prohormone convertase I deficiency' SubClassOf 'disease' + 'Obesity due to prohormone convertase I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Obesity due to prohormone convertase I deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to prohormone convertase I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Obesity due to congenital leptin resistance' + 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to prohormone convertase I deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Obesity due to prohormone convertase I deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79113 Label: Mandibulofacial dysostosis-microcephaly syndrome - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'malformation syndrome' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'malformation syndrome' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_71529 Label: Obesity due to melanocortin 4 receptor deficiency - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'malformation syndrome' - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'part_of' some 'Obesity due to congenital leptin resistance' - 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Obesity due to congenital leptin resistance' + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'malformation syndrome' + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_70596 Label: Congenital Epstein-Barr virus infection - 'Congenital Epstein-Barr virus infection' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital Epstein-Barr virus infection' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Congenital Epstein-Barr virus infection' SubClassOf 'part_of' some 'Rare viral disease' - 'Congenital Epstein-Barr virus infection' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital Epstein-Barr virus infection' SubClassOf 'disease' - 'Congenital Epstein-Barr virus infection' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital Epstein-Barr virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital Epstein-Barr virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Congenital Epstein-Barr virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Congenital Epstein-Barr virus infection' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital Epstein-Barr virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital Epstein-Barr virus infection' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79118 Label: Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys - 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'disease' - 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'disease' + 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_122737 Label: junctophilin 3 - 'junctophilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like 2' - 'junctophilin 3' SubClassOf 'gene' + 'junctophilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'junctophilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like 2' + 'junctophilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_94124 Label: Spinocerebellar ataxia type 1 with axonal neuropathy - 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'disease' - 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'disease' + 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_137617 Label: Nephrogenic systemic fibrosis - 'Nephrogenic systemic fibrosis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Nephrogenic systemic fibrosis' SubClassOf 'disease' + 'Nephrogenic systemic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Nephrogenic systemic fibrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_94122 Label: Cerebellar ataxia, Cayman type - 'Cerebellar ataxia, Cayman type' SubClassOf 'disease' - 'Cerebellar ataxia, Cayman type' SubClassOf 'has_prevalence' some 'Unknown' - 'Cerebellar ataxia, Cayman type' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' + 'Cerebellar ataxia, Cayman type' SubClassOf 'disease' + 'Cerebellar ataxia, Cayman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_79181 Label: Disorder of histidine metabolism - 'Disorder of histidine metabolism' SubClassOf 'group of disorders' + 'Disorder of histidine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_326052 Label: COX20 cytochrome C oxidase assembly factor - 'COX20 cytochrome C oxidase assembly factor' SubClassOf 'gene' - 'COX20 cytochrome C oxidase assembly factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'COX20 cytochrome C oxidase assembly factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'COX20 cytochrome C oxidase assembly factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string + 'COX20 cytochrome C oxidase assembly factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120554 Label: WW domain containing oxidoreductase - 'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' - 'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' - 'WW domain containing oxidoreductase' SubClassOf 'gene' + 'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'WW domain containing oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.3-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'WW domain containing oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' + 'WW domain containing oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289347 Label: Infective dermatitis associated with HTLV-1 - 'Infective dermatitis associated with HTLV-1' SubClassOf 'disease' - 'Infective dermatitis associated with HTLV-1' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Infective dermatitis associated with HTLV-1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Infective dermatitis associated with HTLV-1' SubClassOf 'part_of' some 'Rare viral disease' - 'Infective dermatitis associated with HTLV-1' SubClassOf 'has_inheritance' some 'sporadic' - 'Infective dermatitis associated with HTLV-1' SubClassOf 'has_prevalence' some 'Unknown' + 'Infective dermatitis associated with HTLV-1' SubClassOf 'disease' + 'Infective dermatitis associated with HTLV-1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infective dermatitis associated with HTLV-1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Infective dermatitis associated with HTLV-1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Infective dermatitis associated with HTLV-1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_367084 Label: BUB1 mitotic checkpoint serine/threonine kinase - 'BUB1 mitotic checkpoint serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' - 'BUB1 mitotic checkpoint serine/threonine kinase' SubClassOf 'gene' + 'BUB1 mitotic checkpoint serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BUB1 mitotic checkpoint serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB1 mitotic checkpoint serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_360868 Label: potassium channel, subfamily K, member 3 - 'potassium channel, subfamily K, member 3' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' - 'potassium channel, subfamily K, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' - 'potassium channel, subfamily K, member 3' SubClassOf 'gene' + 'potassium channel, subfamily K, member 3' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' + 'potassium channel, subfamily K, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel, subfamily K, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily K, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_394916 Label: adducin 3 (gamma) - 'adducin 3 (gamma)' SubClassOf 'gene' - 'adducin 3 (gamma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' + 'adducin 3 (gamma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.2"^^http://www.w3.org/2001/XMLSchema#string + 'adducin 3 (gamma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adducin 3 (gamma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Inherited congenital spastic tetraplegia' Class: http://www.orpha.net/ORDO/Orphanet_118627 Label: senataxin - 'senataxin' SubClassOf 'gene' - 'senataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis type 4' - 'senataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with axonal neuropathy type 2' + 'senataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'senataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spinocerebellar ataxia with axonal neuropathy type 2' + 'senataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'senataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis type 4' Class: http://www.orpha.net/ORDO/Orphanet_341 Label: Viral hemorrhagic fever - 'Viral hemorrhagic fever' SubClassOf 'group of disorders' - 'Viral hemorrhagic fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Viral hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Viral hemorrhagic fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Viral hemorrhagic fever' SubClassOf 'group of disorders' + 'Viral hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Viral hemorrhagic fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_340 Label: Hemorrhagic fever - renal syndrome - 'Hemorrhagic fever - renal syndrome' SubClassOf 'disease' - 'Hemorrhagic fever - renal syndrome' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Hemorrhagic fever - renal syndrome' SubClassOf 'disease' + 'Hemorrhagic fever - renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_120549 Label: Wilms tumor 1 - 'Wilms tumor 1' SubClassOf 'Role in the phenotype of' some 'WAGR syndrome' - 'Wilms tumor 1' SubClassOf 'Part of a fusion gene in' some 'Desmoplastic small round cell tumor' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Denys-Drash syndrome' - 'Wilms tumor 1' SubClassOf 'Modifying germline mutation in' some '46,XY partial gonadal dysgenesis' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frasier syndrome' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' - 'Wilms tumor 1' SubClassOf 'gene' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'Wilms tumor 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Nephroblastoma' - 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meacham syndrome' - 'Wilms tumor 1' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' + 'Wilms tumor 1' SubClassOf 'Part of a fusion gene in' some 'Desmoplastic small round cell tumor' + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'Wilms tumor 1' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' + 'Wilms tumor 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Nephroblastoma' + 'Wilms tumor 1' SubClassOf 'Role in the phenotype of' some 'WAGR syndrome' + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Denys-Drash syndrome' + 'Wilms tumor 1' SubClassOf 'Modifying germline mutation in' some '46,XY partial gonadal dysgenesis' + 'Wilms tumor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frasier syndrome' + 'Wilms tumor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Wilms tumor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meacham syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79186 Label: Disorder of pentose phosphate metabolism - 'Disorder of pentose phosphate metabolism' SubClassOf 'group of disorders' + 'Disorder of pentose phosphate metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_345 Label: Dissecting cellulitis of the scalp - 'Dissecting cellulitis of the scalp' SubClassOf 'has_inheritance' some 'sporadic' - 'Dissecting cellulitis of the scalp' SubClassOf 'disease' - 'Dissecting cellulitis of the scalp' SubClassOf 'has_prevalence' some 'Unknown' - 'Dissecting cellulitis of the scalp' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Dissecting cellulitis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Dissecting cellulitis of the scalp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Dissecting cellulitis of the scalp' SubClassOf 'disease' + 'Dissecting cellulitis of the scalp' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dissecting cellulitis of the scalp' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79187 Label: Disorder of peptide metabolism - 'Disorder of peptide metabolism' SubClassOf 'group of disorders' + 'Disorder of peptide metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_344 Label: Arbovirus fever - 'Arbovirus fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Arbovirus fever' SubClassOf 'group of disorders' - 'Arbovirus fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Arbovirus fever' SubClassOf 'has_inheritance' some 'sporadic' + 'Arbovirus fever' SubClassOf 'group of disorders' + 'Arbovirus fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Arbovirus fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_314588 Label: Distal tetrasomy 15q - 'Distal tetrasomy 15q' SubClassOf 'part_of' some '15q overgrowth syndrome' - 'Distal tetrasomy 15q' SubClassOf 'etiological subtype' - 'Distal tetrasomy 15q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal tetrasomy 15q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal tetrasomy 15q' SubClassOf 'has_inheritance' some 'sporadic' + 'Distal tetrasomy 15q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal tetrasomy 15q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Distal tetrasomy 15q' SubClassOf 'etiological subtype' + 'Distal tetrasomy 15q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal tetrasomy 15q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal tetrasomy 15q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal tetrasomy 15q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '15q overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79188 Label: Peroxisomal beta-oxidation disorder - 'Peroxisomal beta-oxidation disorder' SubClassOf 'group of disorders' + 'Peroxisomal beta-oxidation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_343 Label: Hyperimmunoglobulinemia D with periodic fever - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'part_of' some 'Mevalonate kinase deficiency' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'disease' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary periodic fever syndrome' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mevalonate kinase deficiency' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169090 Label: Combined immunodeficiency due to CRAC channel dysfunction - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'disease' - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'disease' + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_79189 Label: Peroxisome biogenesis disorder-Zellweger syndrome spectrum - 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'group of disorders' + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'group of disorders' + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_342 Label: Familial Mediterranean fever - 'Familial Mediterranean fever' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial Mediterranean fever' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Familial Mediterranean fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial Mediterranean fever' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Familial Mediterranean fever' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' - 'Familial Mediterranean fever' SubClassOf 'disease' - 'Familial Mediterranean fever' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Familial Mediterranean fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410004) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "200.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial Mediterranean fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial Mediterranean fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial Mediterranean fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial Mediterranean fever' SubClassOf 'disease' + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial Mediterranean fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary periodic fever syndrome' + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial Mediterranean fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "175.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_349 Label: Fucosidosis - 'Fucosidosis' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Fucosidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fucosidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Fucosidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fucosidosis' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Fucosidosis' SubClassOf 'disease' - 'Fucosidosis' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Fucosidosis' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Fucosidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Fucosidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fucosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fucosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Fucosidosis' SubClassOf 'disease' + 'Fucosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Fucosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_314585 Label: 15q overgrowth syndrome - '15q overgrowth syndrome' SubClassOf 'malformation syndrome' - '15q overgrowth syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '15q overgrowth syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '15q overgrowth syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - '15q overgrowth syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '15q overgrowth syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '15q overgrowth syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 15' - '15q overgrowth syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '15q overgrowth syndrome' SubClassOf 'part_of' some 'Chromosomal disease with overgrowth' + '15q overgrowth syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '15q overgrowth syndrome' SubClassOf 'malformation syndrome' + '15q overgrowth syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 15' + '15q overgrowth syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '15q overgrowth syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q overgrowth syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal disease with overgrowth' + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_79183 Label: Disorder of ketone body metabolism - 'Disorder of ketone body metabolism' SubClassOf 'group of disorders' + 'Disorder of ketone body metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_348 Label: Fructose-1,6-bisphosphatase deficiency - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'disease' - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'part_of' some 'Disorder of fructose metabolism' - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'disease' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fructose metabolism' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gluconeogenesis disorder' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_118623 Label: serpin peptidase inhibitor, clade I (neuroserpin), member 1 - 'serpin peptidase inhibitor, clade I (neuroserpin), member 1' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade I (neuroserpin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial encephalopathy with neuroserpin inclusion bodies' + 'serpin peptidase inhibitor, clade I (neuroserpin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade I (neuroserpin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial encephalopathy with neuroserpin inclusion bodies' + 'serpin peptidase inhibitor, clade I (neuroserpin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_347 Label: Frasier syndrome - 'Frasier syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Frasier syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Frasier syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Frasier syndrome' SubClassOf 'disease' - 'Frasier syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Frasier syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Frasier syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Frasier syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Frasier syndrome' SubClassOf 'disease' + 'Frasier syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Frasier syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frasier syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_263508 Label: COG1-CDG - 'COG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'COG1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'COG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'COG1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'COG1-CDG' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'COG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'COG1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COG1-CDG' SubClassOf 'disease' - 'COG1-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'COG1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'COG1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'COG1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' + 'COG1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'COG1-CDG' SubClassOf 'disease' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_346 Label: Quinquaud's folliculitis decalvans - 'Quinquaud's folliculitis decalvans' SubClassOf 'disease' - 'Quinquaud's folliculitis decalvans' SubClassOf 'has_inheritance' some 'sporadic' - 'Quinquaud's folliculitis decalvans' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Quinquaud's folliculitis decalvans' SubClassOf 'has_prevalence' some 'Unknown' - 'Quinquaud's folliculitis decalvans' SubClassOf 'part_of' some 'Alopecia' + 'Quinquaud's folliculitis decalvans' SubClassOf 'disease' + 'Quinquaud's folliculitis decalvans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Quinquaud's folliculitis decalvans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Quinquaud's folliculitis decalvans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_79185 Label: Disorder of ornithine or proline metabolism - 'Disorder of ornithine or proline metabolism' SubClassOf 'group of disorders' + 'Disorder of ornithine or proline metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137608 Label: Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Rare nevus' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'PTEN hamartoma tumor syndrome' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'malformation syndrome' - 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PTEN hamartoma tumor syndrome' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169095 Label: Alymphoid cystic thymic dysgenesis - 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alymphoid cystic thymic dysgenesis' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Alymphoid cystic thymic dysgenesis' SubClassOf 'disease' + 'Alymphoid cystic thymic dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alymphoid cystic thymic dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alymphoid cystic thymic dysgenesis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180821 Label: Gastro-esophageal tumor - 'Gastro-esophageal tumor' SubClassOf 'group of disorders' + 'Gastro-esophageal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137628 Label: Cardiac anomalies - heterotaxy - 'Cardiac anomalies - heterotaxy' SubClassOf 'malformation syndrome' - 'Cardiac anomalies - heterotaxy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cardiac anomalies - heterotaxy' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Cardiac anomalies - heterotaxy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cardiac anomalies - heterotaxy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiac anomalies - heterotaxy' SubClassOf 'malformation syndrome' + 'Cardiac anomalies - heterotaxy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiac anomalies - heterotaxy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_137622 Label: Intractable diarrhea - choanal atresia - eye anomalies - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'malformation syndrome' - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'malformation syndrome' + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_263501 Label: COG4-CDG - 'COG4-CDG' SubClassOf 'disease' - 'COG4-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'COG4-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' - 'COG4-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'COG4-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COG4-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG4-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'COG4-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG4-CDG' SubClassOf 'disease' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'COG4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'COG4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'COG4-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG4-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' Class: http://www.orpha.net/ORDO/Orphanet_137625 Label: Glycogen storage disease due to muscle and heart glycogen synthase deficiency - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen synthase deficiency' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen synthase deficiency' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120543 Label: wingless-type MMTV integration site family, member 7A - 'wingless-type MMTV integration site family, member 7A' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuhrmann syndrome' - 'wingless-type MMTV integration site family, member 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phocomelia, Schinzel type' + 'wingless-type MMTV integration site family, member 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fuhrmann syndrome' + 'wingless-type MMTV integration site family, member 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Phocomelia, Schinzel type' Class: http://www.orpha.net/ORDO/Orphanet_120545 Label: Werner syndrome, RecQ helicase-like - 'Werner syndrome, RecQ helicase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Werner syndrome' - 'Werner syndrome, RecQ helicase-like' SubClassOf 'gene' + 'Werner syndrome, RecQ helicase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Werner syndrome' + 'Werner syndrome, RecQ helicase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Werner syndrome, RecQ helicase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289356 Label: Primary non-gestational choriocarcinoma of ovary - 'Primary non-gestational choriocarcinoma of ovary' SubClassOf 'disease' - 'Primary non-gestational choriocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant germ cell tumor of ovary' + 'Primary non-gestational choriocarcinoma of ovary' SubClassOf 'disease' + 'Primary non-gestational choriocarcinoma of ovary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary non-gestational choriocarcinoma of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary non-gestational choriocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant germ cell tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_180824 Label: Pancreatic tumor - 'Pancreatic tumor' SubClassOf 'group of disorders' + 'Pancreatic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120540 Label: wingless-type MMTV integration site family, member 4 - 'wingless-type MMTV integration site family, member 4' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'SERKAL syndrome' - 'wingless-type MMTV integration site family, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' + 'wingless-type MMTV integration site family, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.23-p35.1"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' + 'wingless-type MMTV integration site family, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'SERKAL syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118639 Label: surfactant protein B - 'surfactant protein B' SubClassOf 'gene' - 'surfactant protein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' - 'surfactant protein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal acute respiratory distress with surfactant metabolism deficiency' - 'surfactant protein B' SubClassOf 'Major susceptibility factor in' some 'Infant acute respiratory distress syndrome' + 'surfactant protein B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'surfactant protein B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'surfactant protein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'surfactant protein B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neonatal acute respiratory distress with surfactant metabolism deficiency' + 'surfactant protein B' SubClassOf 'Major susceptibility factor in' some 'Infant acute respiratory distress syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120537 Label: wingless-type MMTV integration site family, member 3 - 'wingless-type MMTV integration site family, member 3' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tetraamelia - multiple malformations' + 'wingless-type MMTV integration site family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Tetraamelia - multiple malformations' + 'wingless-type MMTV integration site family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_394920 Label: ubiquinol-cytochrome c reductase complex assembly factor 2 - 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf 'gene' - 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_352 Label: Galactosemia - 'Galactosemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Galactosemia' SubClassOf 'group of disorders' - 'Galactosemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Galactosemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Galactosemia' SubClassOf 'group of disorders' + 'Galactosemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Galactosemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Galactosemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Galactosemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_309447 Label: Disorder of protein O-glycosylation - 'Disorder of protein O-glycosylation' SubClassOf 'group of disorders' + 'Disorder of protein O-glycosylation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79179 Label: Disorder of glycerol metabolism - 'Disorder of glycerol metabolism' SubClassOf 'group of disorders' + 'Disorder of glycerol metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_351 Label: Galactosialidosis - 'Galactosialidosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Galactosialidosis' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Galactosialidosis' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Galactosialidosis' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Galactosialidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Galactosialidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Galactosialidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Galactosialidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Galactosialidosis' SubClassOf 'disease' - 'Galactosialidosis' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Galactosialidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Galactosialidosis' SubClassOf 'disease' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Galactosialidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79177 Label: Gluconeogenesis disorder - 'Gluconeogenesis disorder' SubClassOf 'group of disorders' + 'Gluconeogenesis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_354 Label: GM1 gangliosidosis - 'GM1 gangliosidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'GM1 gangliosidosis' SubClassOf 'disease' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Gangliosidosis' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'GM1 gangliosidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GM1 gangliosidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'GM1 gangliosidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gangliosidosis' + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'GM1 gangliosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'GM1 gangliosidosis' SubClassOf 'disease' + 'GM1 gangliosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'GM1 gangliosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'GM1 gangliosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_101111 Label: Spinocerebellar ataxia type 25 - 'Spinocerebellar ataxia type 25' SubClassOf 'disease' - 'Spinocerebellar ataxia type 25' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 25' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Spinocerebellar ataxia type 25' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 25' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 25' SubClassOf 'disease' + 'Spinocerebellar ataxia type 25' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 25' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 25' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 25' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_79178 Label: Glucose transport disorder - 'Glucose transport disorder' SubClassOf 'group of disorders' + 'Glucose transport disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_353 Label: Autosomal recessive limb-girdle muscular dystrophy type 2C - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'part_of' some 'Qualitative or quantitative defects of gamma-sarcoglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of gamma-sarcoglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_314597 Label: Chudley-McCullough syndrome - 'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Chudley-McCullough syndrome' SubClassOf 'malformation syndrome' - 'Chudley-McCullough syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Chudley-McCullough syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chudley-McCullough syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Chudley-McCullough syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chudley-McCullough syndrome' SubClassOf 'malformation syndrome' + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Chudley-McCullough syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Chudley-McCullough syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chudley-McCullough syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_101112 Label: Spinocerebellar ataxia type 26 - 'Spinocerebellar ataxia type 26' SubClassOf 'disease' - 'Spinocerebellar ataxia type 26' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 26' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 26' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79175 Label: Disorder of gamma-aminobutyric acid metabolism - 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'group of disorders' + 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356 Label: Gerstmann-Straussler-Scheinker syndrome - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'part_of' some 'Genetic dementia' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'disease' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'part_of' some 'Inherited prion disease' + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'disease' + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dementia' + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_52368 Label: Mohr-Tranebjaerg syndrome - 'Mohr-Tranebjaerg syndrome' SubClassOf 'disease' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Mitochondrial protein import disorder' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf 'disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial protein import disorder' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Mohr-Tranebjaerg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mohr-Tranebjaerg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Mohr-Tranebjaerg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_355 Label: Gaucher disease - 'Gaucher disease' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Gaucher disease' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Gaucher disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease' SubClassOf 'disease' - 'Gaucher disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Gaucher disease' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Gaucher disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Gaucher disease' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' + 'Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with restrictive cardiomyopathy' + 'Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Gaucher disease' SubClassOf 'disease' + 'Gaucher disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.13"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_35078 Label: T-B+ severe combined immunodeficiency due to JAK3 deficiency - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'disease' - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'disease' + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_101110 Label: Spinocerebellar ataxia type 20 - 'Spinocerebellar ataxia type 20' SubClassOf 'disease' - 'Spinocerebellar ataxia type 20' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 20' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 20' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 20' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 20' SubClassOf 'disease' + 'Spinocerebellar ataxia type 20' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 20' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_94125 Label: Recessive mitochondrial ataxia syndrome - 'Recessive mitochondrial ataxia syndrome' SubClassOf 'disease' - 'Recessive mitochondrial ataxia syndrome' SubClassOf 'part_of' some 'Ataxia neuropathy spectrum' - 'Recessive mitochondrial ataxia syndrome' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' + 'Recessive mitochondrial ataxia syndrome' SubClassOf 'disease' + 'Recessive mitochondrial ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Recessive mitochondrial ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ataxia neuropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_79173 Label: Disorder of methionine cycle and sulfur amino acid metabolism - 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'group of disorders' + 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_358 Label: Gitelman syndrome - 'Gitelman syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Gitelman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gitelman syndrome' SubClassOf 'disease' - 'Gitelman syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Gitelman syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gitelman syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' + 'Gitelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gitelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Gitelman syndrome' SubClassOf 'disease' + 'Gitelman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gitelman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gitelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_118633 Label: surfactant protein A1 - 'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'surfactant protein A1' SubClassOf 'gene' + 'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'surfactant protein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79174 Label: Disorder of fatty acid oxidation and ketone body metabolism - 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'group of disorders' + 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79171 Label: Disorder of cobalamin metabolism and transport - 'Disorder of cobalamin metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of cobalamin metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79172 Label: Disorder of creatine biosynthesis - 'Disorder of creatine biosynthesis' SubClassOf 'group of disorders' + 'Disorder of creatine biosynthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_359 Label: Hereditary glaucoma - 'Hereditary glaucoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary glaucoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary glaucoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary glaucoma' SubClassOf 'group of disorders' + 'Hereditary glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary glaucoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263534 Label: Acral peeling skin syndrome - 'Acral peeling skin syndrome' SubClassOf 'disease' - 'Acral peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acral peeling skin syndrome' SubClassOf 'part_of' some 'Peeling skin syndrome' - 'Acral peeling skin syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acral peeling skin syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acral peeling skin syndrome' SubClassOf 'disease' + 'Acral peeling skin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peeling skin syndrome' + 'Acral peeling skin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acral peeling skin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acral peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acral peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98159 Label: Chromosome X structural anomaly - 'Chromosome X structural anomaly' SubClassOf 'group of disorders' + 'Chromosome X structural anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98158 Label: Chromosome Y structural anomaly - 'Chromosome Y structural anomaly' SubClassOf 'group of disorders' + 'Chromosome Y structural anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122791 Label: potassium inwardly-rectifying channel, subfamily J, member 2 - 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' - 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' + 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_166766 Label: mitochondrially encoded tRNA histidine - 'mitochondrially encoded tRNA histidine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA histidine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'mitochondrially encoded tRNA histidine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA histidine' SubClassOf 'gene' + 'mitochondrially encoded tRNA histidine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA histidine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA histidine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'mitochondrially encoded tRNA histidine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA histidine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_99688 Label: Dermotrichic syndrome - 'Dermotrichic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dermotrichic syndrome' SubClassOf 'malformation syndrome' + 'Dermotrichic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dermotrichic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98155 Label: Gonosome anomaly - 'Gonosome anomaly' SubClassOf 'group of disorders' + 'Gonosome anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98154 Label: Uniparental disomy of paternal origin - 'Uniparental disomy of paternal origin' SubClassOf 'group of disorders' + 'Uniparental disomy of paternal origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98157 Label: Gonosome structural anomaly - 'Gonosome structural anomaly' SubClassOf 'group of disorders' + 'Gonosome structural anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98156 Label: Gonosome number anomaly - 'Gonosome number anomaly' SubClassOf 'group of disorders' + 'Gonosome number anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309450 Label: Disorder of O-xylosylglycan synthesis - 'Disorder of O-xylosylglycan synthesis' SubClassOf 'group of disorders' + 'Disorder of O-xylosylglycan synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289326 Label: Tropical spastic paraparesis - 'Tropical spastic paraparesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Tropical spastic paraparesis' SubClassOf 'part_of' some 'Rare viral disease' - 'Tropical spastic paraparesis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tropical spastic paraparesis' SubClassOf 'disease' - 'Tropical spastic paraparesis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Tropical spastic paraparesis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' + 'Tropical spastic paraparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Tropical spastic paraparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Tropical spastic paraparesis' SubClassOf 'disease' + 'Tropical spastic paraparesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Tropical spastic paraparesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_120531 Label: WNK lysine deficient protein kinase 1 - 'WNK lysine deficient protein kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 2' - 'WNK lysine deficient protein kinase 1' SubClassOf 'gene' - 'WNK lysine deficient protein kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2C' + 'WNK lysine deficient protein kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WNK lysine deficient protein kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'WNK lysine deficient protein kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary sensory and autonomic neuropathy type 2' + 'WNK lysine deficient protein kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2C' Class: http://www.orpha.net/ORDO/Orphanet_98153 Label: Uniparental disomy of maternal origin - 'Uniparental disomy of maternal origin' SubClassOf 'group of disorders' + 'Uniparental disomy of maternal origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98152 Label: Autosomal uniparental disomy - 'Autosomal uniparental disomy' SubClassOf 'group of disorders' + 'Autosomal uniparental disomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120534 Label: WNK lysine deficient protein kinase 4 - 'WNK lysine deficient protein kinase 4' SubClassOf 'gene' - 'WNK lysine deficient protein kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2B' + 'WNK lysine deficient protein kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WNK lysine deficient protein kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2B' + 'WNK lysine deficient protein kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122795 Label: potassium large conductance calcium-activated channel, subfamily M, alpha member 1 - 'potassium large conductance calcium-activated channel, subfamily M, alpha member 1' SubClassOf 'gene' - 'potassium large conductance calcium-activated channel, subfamily M, alpha member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy - paroxysmal dyskinesia' + 'potassium large conductance calcium-activated channel, subfamily M, alpha member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'potassium large conductance calcium-activated channel, subfamily M, alpha member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium large conductance calcium-activated channel, subfamily M, alpha member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy - paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_70573 Label: Small cell lung cancer - 'Small cell lung cancer' SubClassOf 'has_inheritance' some 'sporadic' - 'Small cell lung cancer' SubClassOf 'disease' - 'Small cell lung cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Small cell lung cancer' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Small cell lung cancer' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Small cell lung cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Small cell lung cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Small cell lung cancer' SubClassOf 'disease' + 'Small cell lung cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Small cell lung cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_309458 Label: Disorder of O-N-acetylgalactosaminylglycan synthesis - 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of disorders' + 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79168 Label: Disorder of bile acid synthesis - 'Disorder of bile acid synthesis' SubClassOf 'group of disorders' + 'Disorder of bile acid synthesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Disorder of bile acid synthesis' SubClassOf 'group of disorders' + 'Disorder of bile acid synthesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_101102 Label: Charcot-Marie-Tooth disease type 2H - 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2H' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2H' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120528 Label: WNT1 inducible signaling pathway protein 3 - 'WNT1 inducible signaling pathway protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive pseudorheumatoid arthropathy of childhood' - 'WNT1 inducible signaling pathway protein 3' SubClassOf 'gene' + 'WNT1 inducible signaling pathway protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive pseudorheumatoid arthropathy of childhood' + 'WNT1 inducible signaling pathway protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WNT1 inducible signaling pathway protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_368114 Label: retinoic acid receptor, beta - 'retinoic acid receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' - 'retinoic acid receptor, beta' SubClassOf 'gene' + 'retinoic acid receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24"^^http://www.w3.org/2001/XMLSchema#string + 'retinoic acid receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoic acid receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79169 Label: Disorder of neurotransmitter metabolism and transport - 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118609 Label: serpin peptidase inhibitor, clade C (antithrombin), member 1 - 'serpin peptidase inhibitor, clade C (antithrombin), member 1' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade C (antithrombin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital antithrombin deficiency' + 'serpin peptidase inhibitor, clade C (antithrombin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade C (antithrombin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital antithrombin deficiency' + 'serpin peptidase inhibitor, clade C (antithrombin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_361 Label: Familial glucocorticoid deficiency - 'Familial glucocorticoid deficiency' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Familial glucocorticoid deficiency' SubClassOf 'disease' - 'Familial glucocorticoid deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial glucocorticoid deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial glucocorticoid deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial glucocorticoid deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial glucocorticoid deficiency' SubClassOf 'disease' + 'Familial glucocorticoid deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Familial glucocorticoid deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial glucocorticoid deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_101104 Label: Marin-Amat syndrome - 'Marin-Amat syndrome' SubClassOf 'part_of' some 'Marcus-Gunn syndrome' - 'Marin-Amat syndrome' SubClassOf 'clinical subtype' + 'Marin-Amat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marcus-Gunn syndrome' + 'Marin-Amat syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_360 Label: Glioblastoma - 'Glioblastoma' SubClassOf 'disease' - 'Glioblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glioblastoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Glioblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Glioblastoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Glioblastoma' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Glioblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf 'disease' + 'Glioblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Glioblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'High-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_120525 Label: negative elongation factor complex member A - 'negative elongation factor complex member A' SubClassOf 'Candidate gene tested in' some 'Wolf-Hirschhorn syndrome' - 'negative elongation factor complex member A' SubClassOf 'gene' + 'negative elongation factor complex member A' SubClassOf 'Candidate gene tested in' some 'Wolf-Hirschhorn syndrome' + 'negative elongation factor complex member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'negative elongation factor complex member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_70567 Label: Cholangiocarcinoma - 'Cholangiocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cholangiocarcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cholangiocarcinoma' SubClassOf 'disease' - 'Cholangiocarcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Cholangiocarcinoma' SubClassOf 'part_of' some 'Rare biliary tract cancer' + 'Cholangiocarcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C032 value "113.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cholangiocarcinoma' SubClassOf 'disease' + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract cancer' Class: http://www.orpha.net/ORDO/Orphanet_101106 Label: Non-secreting chemodectoma - 'Non-secreting chemodectoma' SubClassOf 'part_of' some 'Non-secreting paraganglioma' - 'Non-secreting chemodectoma' SubClassOf 'clinical subtype' + 'Non-secreting chemodectoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-secreting paraganglioma' + 'Non-secreting chemodectoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_70568 Label: Posttransplant lymphoproliferative disease - 'Posttransplant lymphoproliferative disease' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Posttransplant lymphoproliferative disease' SubClassOf 'part_of' some 'Immunodeficiency-associated lymphoproliferative disease' - 'Posttransplant lymphoproliferative disease' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Posttransplant lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Posttransplant lymphoproliferative disease' SubClassOf 'disease' - 'Posttransplant lymphoproliferative disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Posttransplant lymphoproliferative disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Posttransplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Posttransplant lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Posttransplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency-associated lymphoproliferative disease' + 'Posttransplant lymphoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Posttransplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Posttransplant lymphoproliferative disease' SubClassOf 'disease' + 'Posttransplant lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101108 Label: Spinocerebellar ataxia type 23 - 'Spinocerebellar ataxia type 23' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 23' SubClassOf 'disease' - 'Spinocerebellar ataxia type 23' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 23' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 23' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 23' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 23' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 23' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 23' SubClassOf 'disease' + 'Spinocerebellar ataxia type 23' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_376888 Label: leucyl-tRNA synthetase - 'leucyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute infantile liver failure-multisystemic involvement syndrome' - 'leucyl-tRNA synthetase' SubClassOf 'gene' + 'leucyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute infantile liver failure-multisystemic involvement syndrome' + 'leucyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101109 Label: Spinocerebellar ataxia type 28 - 'Spinocerebellar ataxia type 28' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spinocerebellar ataxia type 28' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 28' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Spinocerebellar ataxia type 28' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 28' SubClassOf 'has_prevalence' some 'Unknown' - 'Spinocerebellar ataxia type 28' SubClassOf 'disease' + 'Spinocerebellar ataxia type 28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Spinocerebellar ataxia type 28' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia type 28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 28' SubClassOf 'disease' + 'Spinocerebellar ataxia type 28' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118602 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antitrypsin deficiency' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antitrypsin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79161 Label: Disorder of carbohydrate metabolism - 'Disorder of carbohydrate metabolism' SubClassOf 'group of disorders' + 'Disorder of carbohydrate metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_369 Label: Glycogen storage disease due to liver glycogen phosphorylase deficiency - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_368 Label: Glycogen storage disease due to muscle glycogen phosphorylase deficiency - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_79163 Label: Classic organic aciduria - 'Classic organic aciduria' SubClassOf 'group of disorders' + 'Classic organic aciduria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_367 Label: Glycogen storage disease due to glycogen branching enzyme deficiency - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'part_of' some 'Familial dilated cardiomyopathy' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial dilated cardiomyopathy' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_366 Label: Glycogen storage disease due to glycogen debranching enzyme deficiency - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'part_of' some 'Glycogen storage disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_326078 Label: signal transducer and activator of transcription 6, interleukin-4 induced - 'signal transducer and activator of transcription 6, interleukin-4 induced' SubClassOf 'Part of a fusion gene in' some 'Solitary fibrous tumor' - 'signal transducer and activator of transcription 6, interleukin-4 induced' SubClassOf 'gene' + 'signal transducer and activator of transcription 6, interleukin-4 induced' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 6, interleukin-4 induced' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 6, interleukin-4 induced' SubClassOf 'Part of a fusion gene in' some 'Solitary fibrous tumor' Class: http://www.orpha.net/ORDO/Orphanet_365 Label: Glycogen storage disease due to acid maltase deficiency - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Lysosomal glycogen storage disease' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with restrictive cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal glycogen storage disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79166 Label: Disorder of amino acid absorption and transport - 'Disorder of amino acid absorption and transport' SubClassOf 'group of disorders' + 'Disorder of amino acid absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_101101 Label: Charcot-Marie-Tooth disease type 2B2 - 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79167 Label: Disorder of urea cycle metabolism and ammonia detoxification - 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'group of disorders' + 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137602 Label: Endotheliitis - 'Endotheliitis' SubClassOf 'part_of' some 'Herpes simplex virus keratitis' - 'Endotheliitis' SubClassOf 'disease' + 'Endotheliitis' SubClassOf 'disease' + 'Endotheliitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Herpes simplex virus keratitis' Class: http://www.orpha.net/ORDO/Orphanet_263524 Label: Acute necrotizing encephalopathy of childhood - 'Acute necrotizing encephalopathy of childhood' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute necrotizing encephalopathy of childhood' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute necrotizing encephalopathy of childhood' SubClassOf 'disease' - 'Acute necrotizing encephalopathy of childhood' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute necrotizing encephalopathy of childhood' SubClassOf 'part_of' some 'Infectious encephalitis' + 'Acute necrotizing encephalopathy of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute necrotizing encephalopathy of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute necrotizing encephalopathy of childhood' SubClassOf 'disease' + 'Acute necrotizing encephalopathy of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_99672 Label: Fried's tooth and nail syndrome - 'Fried's tooth and nail syndrome' SubClassOf 'malformation syndrome' - 'Fried's tooth and nail syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Fried's tooth and nail syndrome' SubClassOf 'malformation syndrome' + 'Fried's tooth and nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137605 Label: Legius syndrome - 'Legius syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Legius syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Legius syndrome' SubClassOf 'malformation syndrome' - 'Legius syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Legius syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Legius syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Legius syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Legius syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Legius syndrome' SubClassOf 'malformation syndrome' + 'Legius syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Legius syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Legius syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Legius syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_166775 Label: Rare hemorrhagic disorder due to an acquired coagulation factor defect - 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_35093 Label: Isolated scaphocephaly - 'Isolated scaphocephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated scaphocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated scaphocephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated scaphocephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated scaphocephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated scaphocephaly' SubClassOf 'morphological anomaly' - 'Isolated scaphocephaly' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Isolated scaphocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated scaphocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated scaphocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated scaphocephaly' SubClassOf 'morphological anomaly' + 'Isolated scaphocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated scaphocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated scaphocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98142 Label: Partial autosomal monosomy - 'Partial autosomal monosomy' SubClassOf 'group of disorders' + 'Partial autosomal monosomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98141 Label: Total autosomal monosomy - 'Total autosomal monosomy' SubClassOf 'group of disorders' + 'Total autosomal monosomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122787 Label: potassium inwardly-rectifying channel, subfamily J, member 11 - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'DEND syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' - 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'gene' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'DEND syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Intermediate DEND syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium inwardly-rectifying channel, subfamily J, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120521 Label: Wolf-Hirschhorn syndrome candidate 1 - 'Wolf-Hirschhorn syndrome candidate 1' SubClassOf 'gene' - 'Wolf-Hirschhorn syndrome candidate 1' SubClassOf 'Role in the phenotype of' some 'Wolf-Hirschhorn syndrome' + 'Wolf-Hirschhorn syndrome candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Wolf-Hirschhorn syndrome candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'Wolf-Hirschhorn syndrome candidate 1' SubClassOf 'Role in the phenotype of' some 'Wolf-Hirschhorn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309463 Label: Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of disorders' + 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122783 Label: potassium inwardly-rectifying channel, subfamily J, member 1 - 'potassium inwardly-rectifying channel, subfamily J, member 1' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antenatal Bartter syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium inwardly-rectifying channel, subfamily J, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Antenatal Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79159 Label: Isobutyryl-CoA dehydrogenase deficiency - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_371 Label: Glycogen storage disease due to muscle phosphofructokinase deficiency - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_368101 Label: ATP/GTP binding protein-like 1 - 'ATP/GTP binding protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' - 'ATP/GTP binding protein-like 1' SubClassOf 'gene' + 'ATP/GTP binding protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP/GTP binding protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' + 'ATP/GTP binding protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118618 Label: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 - 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 2' - 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 1' - 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 2' + 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 1' + 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'serpin peptidase inhibitor, clade G (C1 inhibitor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120514 Label: Wolfram syndrome 1 (wolframin) - 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' - 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolfram syndrome' - 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'Wolfram syndrome 1 (wolframin)' SubClassOf 'gene' - 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' + 'Wolfram syndrome 1 (wolframin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'Wolfram syndrome 1 (wolframin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Wolfram syndrome 1 (wolframin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Wolfram syndrome' + 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_79157 Label: 2-methylbutyryl-CoA dehydrogenase deficiency - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_374 Label: Goldenhar syndrome - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' - 'Goldenhar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Goldenhar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Goldenhar syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Oculo-auriculo-vertebral spectrum' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Goldenhar syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with branchial archs anomalies' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' - 'Goldenhar syndrome' SubClassOf 'malformation syndrome' - 'Goldenhar syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Goldenhar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Goldenhar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculo-auriculo-vertebral spectrum' + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Goldenhar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with branchial archs anomalies' + 'Goldenhar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Goldenhar syndrome' SubClassOf 'malformation syndrome' + 'Goldenhar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_309469 Label: Disorder of O-mannosylglycan synthesis - 'Disorder of O-mannosylglycan synthesis' SubClassOf 'group of disorders' + 'Disorder of O-mannosylglycan synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_373 Label: Simpson-Golabi-Behmel syndrome - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'malformation syndrome' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some 'Macroglossia' + 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Simpson-Golabi-Behmel syndrome' SubClassOf 'malformation syndrome' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Simpson-Golabi-Behmel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_79158 Label: Cerebral organic aciduria - 'Cerebral organic aciduria' SubClassOf 'group of disorders' + 'Cerebral organic aciduria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376898 Label: methionyl-tRNA synthetase - 'methionyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 70' - 'methionyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' - 'methionyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute infantile liver failure-multisystemic involvement syndrome' - 'methionyl-tRNA synthetase' SubClassOf 'gene' + 'methionyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 70' + 'methionyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' + 'methionyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acute infantile liver failure-multisystemic involvement syndrome' + 'methionyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'methionyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370 Label: Glycogen storage disease due to phosphorylase kinase deficiency - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'group of disorders' - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'group of disorders' + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_79151 Label: Acrokeratosis verruciformis of Hopf - 'Acrokeratosis verruciformis of Hopf' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Acrokeratosis verruciformis of Hopf' SubClassOf 'disease' - 'Acrokeratosis verruciformis of Hopf' SubClassOf 'part_of' some 'Acrokeratoderma' + 'Acrokeratosis verruciformis of Hopf' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrokeratoderma' + 'Acrokeratosis verruciformis of Hopf' SubClassOf 'disease' + 'Acrokeratosis verruciformis of Hopf' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic acrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79152 Label: Disseminated superficial actinic porokeratosis - 'Disseminated superficial actinic porokeratosis' SubClassOf 'disease' - 'Disseminated superficial actinic porokeratosis' SubClassOf 'part_of' some 'Genetic porokeratosis' - 'Disseminated superficial actinic porokeratosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Disseminated superficial actinic porokeratosis' SubClassOf 'part_of' some 'Porokeratosis' + 'Disseminated superficial actinic porokeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Disseminated superficial actinic porokeratosis' SubClassOf 'disease' + 'Disseminated superficial actinic porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porokeratosis' + 'Disseminated superficial actinic porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic porokeratosis' Class: http://www.orpha.net/ORDO/Orphanet_379 Label: Chronic granulomatous disease - 'Chronic granulomatous disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Chronic granulomatous disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Systemic diseases with panuveitis' - 'Chronic granulomatous disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Chronic granulomatous disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Systemic diseases with posterior uveitis' - 'Chronic granulomatous disease' SubClassOf 'disease' - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.99"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf 'disease' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous 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SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.57"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with posterior uveitis' + 'Chronic granulomatous disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with panuveitis' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Chronic granulomatous disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_118613 Label: serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 - 'serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital plasminogen activator inhibitor type 1 deficiency' + 'serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital plasminogen activator inhibitor type 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79150 Label: Linear and whorled nevoid hypermelanosis - 'Linear and whorled nevoid hypermelanosis' SubClassOf 'disease' - 'Linear and whorled nevoid hypermelanosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Linear and whorled nevoid hypermelanosis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Linear and whorled nevoid hypermelanosis' SubClassOf 'disease' + 'Linear and whorled nevoid hypermelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Linear and whorled nevoid hypermelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_79155 Label: Encephalopathy due to hydroxykynureninuria - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'disease' - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'part_of' some 'Disorder of tryptophan metabolism' + 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'disease' + 'Encephalopathy due to hydroxykynureninuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Encephalopathy due to hydroxykynureninuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tryptophan metabolism' + 'Encephalopathy due to hydroxykynureninuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_376 Label: Gordon syndrome - 'Gordon syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gordon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gordon syndrome' SubClassOf 'malformation syndrome' - 'Gordon syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gordon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gordon syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Gordon syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Gordon syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Gordon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Gordon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Gordon syndrome' SubClassOf 'malformation syndrome' + 'Gordon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35099 Label: Isolated brachycephaly - 'Isolated brachycephaly' SubClassOf 'morphological anomaly' - 'Isolated brachycephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated brachycephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated brachycephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated brachycephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated brachycephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated brachycephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Isolated brachycephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated brachycephaly' SubClassOf 'morphological anomaly' + 'Isolated brachycephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated brachycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated brachycephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated brachycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated brachycephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_79156 Label: Seizures - intellectual disability due to hydroxylysinuria - 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'part_of' some 'Disorder of lysine and hydroxylysine metabolism' - 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'disease' - 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'disease' + 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysine and hydroxylysine metabolism' + 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_375 Label: Anti-glomerular basement membrane disease - 'Anti-glomerular basement membrane disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Anti-glomerular basement membrane disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Anti-glomerular basement membrane disease' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' - 'Anti-glomerular basement membrane disease' SubClassOf 'disease' - 'Anti-glomerular basement membrane disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Anti-glomerular basement membrane disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Anti-glomerular basement membrane disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Anti-glomerular basement membrane disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.179"^^http://www.w3.org/2001/XMLSchema#string) + 'Anti-glomerular basement membrane disease' SubClassOf 'disease' + 'Anti-glomerular basement membrane disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anti-glomerular basement membrane disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Anti-glomerular basement membrane disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anti-glomerular basement membrane disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' + 'Anti-glomerular basement membrane disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Anti-glomerular basement membrane disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_35098 Label: Isolated plagiocephaly - 'Isolated plagiocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated plagiocephaly' SubClassOf 'morphological anomaly' - 'Isolated plagiocephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated plagiocephaly' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Isolated plagiocephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated plagiocephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated plagiocephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' + 'Isolated plagiocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated plagiocephaly' SubClassOf 'morphological anomaly' + 'Isolated plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated plagiocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated plagiocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated plagiocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' Class: http://www.orpha.net/ORDO/Orphanet_326069 Label: protein phosphatase, Mg2+/Mn2+ dependent, 1K - 'protein phosphatase, Mg2+/Mn2+ dependent, 1K' SubClassOf 'gene' - 'protein phosphatase, Mg2+/Mn2+ dependent, 1K' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' + 'protein phosphatase, Mg2+/Mn2+ dependent, 1K' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' + 'protein phosphatase, Mg2+/Mn2+ dependent, 1K' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein phosphatase, Mg2+/Mn2+ dependent, 1K' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79153 Label: Autosomal dominant nail dysplasia - 'Autosomal dominant nail dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant nail dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant nail dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant nail dysplasia' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Autosomal dominant nail dysplasia' SubClassOf 'disease' + 'Autosomal dominant nail dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant nail dysplasia' SubClassOf 'disease' + 'Autosomal dominant nail dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant nail dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_79154 Label: 2-aminoadipic 2-oxoadipic aciduria - '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'part_of' some 'Disorder of lysine and hydroxylysine metabolism' - '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'disease' - '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysine and hydroxylysine metabolism' + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'disease' + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_377 Label: Gorlin syndrome - 'Gorlin syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Gorlin syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gorlin syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Gorlin syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Gorlin syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Gorlin syndrome' SubClassOf 'malformation syndrome' - 'Gorlin syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Gorlin syndrome' SubClassOf 'part_of' some 'Malignant tumor of palpebral epidermis' - 'Gorlin syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Gorlin syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.61"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Gorlin syndrome' SubClassOf 'malformation syndrome' + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gorlin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gorlin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gorlin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of palpebral epidermis' Class: http://www.orpha.net/ORDO/Orphanet_263516 Label: Progressive myoclonic epilepsy type 3 - 'Progressive myoclonic epilepsy type 3' SubClassOf 'disease' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'disease' + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive myoclonic epilepsy type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive myoclonic epilepsy type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118663 Label: sarcoglycan, epsilon - 'sarcoglycan, epsilon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonus-dystonia syndrome' - 'sarcoglycan, epsilon' SubClassOf 'gene' + 'sarcoglycan, epsilon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonus-dystonia syndrome' + 'sarcoglycan, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'sarcoglycan, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_88938 Label: Pseudohypoaldosteronism type 2A - 'Pseudohypoaldosteronism type 2A' SubClassOf 'etiological subtype' - 'Pseudohypoaldosteronism type 2A' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' + 'Pseudohypoaldosteronism type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' + 'Pseudohypoaldosteronism type 2A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118666 Label: sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) - 'sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)' SubClassOf 'gene' - 'sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2C' + 'sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2C' + 'sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12-q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_88939 Label: Pseudohypoaldosteronism type 2B - 'Pseudohypoaldosteronism type 2B' SubClassOf 'etiological subtype' - 'Pseudohypoaldosteronism type 2B' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' + 'Pseudohypoaldosteronism type 2B' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_261956 Label: Partial deletion of the short arm of chromosome 16 - 'Partial deletion of the short arm of chromosome 16' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300857 Label: T-cell/histiocyte rich large B cell lymphoma - 'T-cell/histiocyte rich large B cell lymphoma' SubClassOf 'disease' - 'T-cell/histiocyte rich large B cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'T-cell/histiocyte rich large B cell lymphoma' SubClassOf 'disease' + 'T-cell/histiocyte rich large B cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_121639 Label: Ellis van Creveld syndrome 2 - 'Ellis van Creveld syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrofacial dysostosis, Weyers type' - 'Ellis van Creveld syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' - 'Ellis van Creveld syndrome 2' SubClassOf 'gene' + 'Ellis van Creveld syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrofacial dysostosis, Weyers type' + 'Ellis van Creveld syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' + 'Ellis van Creveld syndrome 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Ellis van Creveld syndrome 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.2-p16.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_353372 Label: DEP domain containing 5 - 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' - 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant epilepsy with auditory features' - 'DEP domain containing 5' SubClassOf 'gene' - 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' - 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial focal epilepsy with variable foci' + 'DEP domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' + 'DEP domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial focal epilepsy with variable foci' + 'DEP domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant epilepsy with auditory features' + 'DEP domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'DEP domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121636 Label: Ellis van Creveld syndrome - 'Ellis van Creveld syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrofacial dysostosis, Weyers type' - 'Ellis van Creveld syndrome' SubClassOf 'gene' - 'Ellis van Creveld syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' + 'Ellis van Creveld syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrofacial dysostosis, Weyers type' + 'Ellis van Creveld syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16"^^http://www.w3.org/2001/XMLSchema#string + 'Ellis van Creveld syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' + 'Ellis van Creveld syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121645 Label: exostosin glycosyltransferase 1 - 'exostosin glycosyltransferase 1' SubClassOf 'Role in the phenotype of' some 'Langer-Giedion syndrome' - 'exostosin glycosyltransferase 1' SubClassOf 'gene' - 'exostosin glycosyltransferase 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chondrosarcoma' - 'exostosin glycosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple osteochondromas' + 'exostosin glycosyltransferase 1' SubClassOf 'Role in the phenotype of' some 'Langer-Giedion syndrome' + 'exostosin glycosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'exostosin glycosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'exostosin glycosyltransferase 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chondrosarcoma' + 'exostosin glycosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple osteochondromas' Class: http://www.orpha.net/ORDO/Orphanet_289307 Label: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'disease' + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of branched-chain amino acid metabolism' + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98130 Label: Autosomal trisomy - 'Autosomal trisomy' SubClassOf 'group of disorders' + 'Autosomal trisomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98131 Label: Total autosomal trisomy - 'Total autosomal trisomy' SubClassOf 'group of disorders' + 'Total autosomal trisomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'disease' - 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe immune-mediated enteropathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'disease' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_326090 Label: brain expressed, associated with NEDD4, 1 - 'brain expressed, associated with NEDD4, 1' SubClassOf 'gene' - 'brain expressed, associated with NEDD4, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 31' + 'brain expressed, associated with NEDD4, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'brain expressed, associated with NEDD4, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q21"^^http://www.w3.org/2001/XMLSchema#string + 'brain expressed, associated with NEDD4, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 31' Class: http://www.orpha.net/ORDO/Orphanet_300849 Label: Diffuse large B-cell lymphoma of the central nervous system - 'Diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'disease' - 'Diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'Diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'disease' + 'Diffuse large B-cell lymphoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_121642 Label: EWS RNA-binding protein 1 - 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' - 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' - 'EWS RNA-binding protein 1' SubClassOf 'gene' - 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' - 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' - 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Desmoplastic small round cell tumor' + 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' + 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' + 'EWS RNA-binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EWS RNA-binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Desmoplastic small round cell tumor' + 'EWS RNA-binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_158019 Label: Indeterminate cell histiocytosis - 'Indeterminate cell histiocytosis' SubClassOf 'disease' - 'Indeterminate cell histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Indeterminate cell histiocytosis' SubClassOf 'disease' + 'Indeterminate cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_181982 Label: methylmalonyl CoA epimerase - 'methylmalonyl CoA epimerase' SubClassOf 'gene' - 'methylmalonyl CoA epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' + 'methylmalonyl CoA epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' + 'methylmalonyl CoA epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonyl CoA epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_264688 Label: Congenital chylothorax - 'Congenital chylothorax' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital chylothorax' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - 'Congenital chylothorax' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital chylothorax' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital chylothorax' SubClassOf 'disease' + 'Congenital chylothorax' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital chylothorax' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital chylothorax' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital chylothorax' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital chylothorax' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_158014 Label: Rosa�-Dorfman disease - 'Rosa�-Dorfman disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Rosa�-Dorfman disease' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Rosa�-Dorfman disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Rosa�-Dorfman disease' SubClassOf 'disease' + 'Rosa�-Dorfman disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Rosa�-Dorfman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' + 'Rosa�-Dorfman disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Rosa�-Dorfman disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98132 Label: Partial autosomal trisomy/tetrasomy - 'Partial autosomal trisomy/tetrasomy' SubClassOf 'group of disorders' + 'Partial autosomal trisomy/tetrasomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264683 Label: Primary interstitial lung disease specific to childhood due to alveolar vascular disorder - 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_88940 Label: Pseudohypoaldosteronism type 2C - 'Pseudohypoaldosteronism type 2C' SubClassOf 'etiological subtype' - 'Pseudohypoaldosteronism type 2C' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' + 'Pseudohypoaldosteronism type 2C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' + 'Pseudohypoaldosteronism type 2C' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_158011 Label: Necrobiotic xanthogranuloma - 'Necrobiotic xanthogranuloma' SubClassOf 'disease' - 'Necrobiotic xanthogranuloma' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Necrobiotic xanthogranuloma' SubClassOf 'disease' + 'Necrobiotic xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_118674 Label: N-sulfoglucosamine sulfohydrolase - 'N-sulfoglucosamine sulfohydrolase' SubClassOf 'gene' - 'N-sulfoglucosamine sulfohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type A' + 'N-sulfoglucosamine sulfohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-sulfoglucosamine sulfohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type A' + 'N-sulfoglucosamine sulfohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261965 Label: Partial monosomy of the short arm of chromosome 17 - 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118679 Label: SH2 domain containing 1A - 'SH2 domain containing 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' - 'SH2 domain containing 1A' SubClassOf 'gene' + 'SH2 domain containing 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' + 'SH2 domain containing 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string + 'SH2 domain containing 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88949 Label: Autosomal dominant medullary cystic kidney disease without hyperuricemia - 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'clinical subtype' - 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'part_of' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' + 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'clinical subtype' + 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' Class: http://www.orpha.net/ORDO/Orphanet_121629 Label: ethylmalonic encephalopathy 1 - 'ethylmalonic encephalopathy 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ethylmalonic encephalopathy' - 'ethylmalonic encephalopathy 1' SubClassOf 'gene' + 'ethylmalonic encephalopathy 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ethylmalonic encephalopathy 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'ethylmalonic encephalopathy 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ethylmalonic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_300846 Label: Aggressive B-cell non-Hodgkin lymphoma - 'Aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_391468 Label: phosphate cytidylyltransferase 1, choline, alpha - 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia - cone-rod dystrophy' - 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf 'gene' + 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spondylometaphyseal dysplasia - cone-rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_139906 Label: tyrosyl-tRNA synthetase - 'tyrosyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' - 'tyrosyl-tRNA synthetase' SubClassOf 'gene' + 'tyrosyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' + 'tyrosyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121626 Label: electron-transferring-flavoprotein dehydrogenase - 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' - 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' - 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'gene' + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q32-q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_300842 Label: Indolent B-cell non-Hodgkin lymphoma - 'Indolent B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Indolent B-cell non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Indolent B-cell non-Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_209981 Label: IRIDA syndrome - 'IRIDA syndrome' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' - 'IRIDA syndrome' SubClassOf 'disease' - 'IRIDA syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'IRIDA syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'IRIDA syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'IRIDA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'IRIDA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'IRIDA syndrome' SubClassOf 'disease' + 'IRIDA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'IRIDA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'IRIDA syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_289319 Label: aldehyde dehydrogenase 6 family, member A1 - 'aldehyde dehydrogenase 6 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' - 'aldehyde dehydrogenase 6 family, member A1' SubClassOf 'gene' + 'aldehyde dehydrogenase 6 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' + 'aldehyde dehydrogenase 6 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 6 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_264670 Label: Primary interstitial lung disease specific to childhood due to alveolar structure disorder - 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123897 Label: natriuretic peptide receptor 2 - 'natriuretic peptide receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature - scoliosis - macrodactyly of the great toes' - 'natriuretic peptide receptor 2' SubClassOf 'gene' - 'natriuretic peptide receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Maroteaux type' + 'natriuretic peptide receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'natriuretic peptide receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Tall stature - scoliosis - macrodactyly of the great toes' + 'natriuretic peptide receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Maroteaux type' + 'natriuretic peptide receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121633 Label: ets variant 1 - 'ets variant 1' SubClassOf 'gene' - 'ets variant 1' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'ets variant 1' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'ets variant 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ets variant 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391474 Label: Frontorhiny - 'Frontorhiny' SubClassOf 'malformation syndrome' - 'Frontorhiny' SubClassOf 'part_of' some 'Median facial cleft' - 'Frontorhiny' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Frontorhiny' SubClassOf 'malformation syndrome' + 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_158008 Label: Papular xanthoma - 'Papular xanthoma' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Papular xanthoma' SubClassOf 'disease' + 'Papular xanthoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Papular xanthoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209989 Label: Non-papillary transitional cell carcinoma of the bladder - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'part_of' some 'Rare urinary tract tumor' - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'disease' + 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "37.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urinary tract tumor' + 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88950 Label: Autosomal dominant medullary cystic kidney disease with hyperuricemia - 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'clinical subtype' - 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'part_of' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' + 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' + 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_158003 Label: Xanthoma disseminatum - 'Xanthoma disseminatum' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Xanthoma disseminatum' SubClassOf 'disease' + 'Xanthoma disseminatum' SubClassOf 'disease' + 'Xanthoma disseminatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_326081 Label: NGFI-A binding protein 2 (EGR1 binding protein 2) - 'NGFI-A binding protein 2 (EGR1 binding protein 2)' SubClassOf 'gene' - 'NGFI-A binding protein 2 (EGR1 binding protein 2)' SubClassOf 'Part of a fusion gene in' some 'Solitary fibrous tumor' + 'NGFI-A binding protein 2 (EGR1 binding protein 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NGFI-A binding protein 2 (EGR1 binding protein 2)' SubClassOf 'Part of a fusion gene in' some 'Solitary fibrous tumor' + 'NGFI-A binding protein 2 (EGR1 binding protein 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_158000 Label: Juvenile xanthogranuloma - 'Juvenile xanthogranuloma' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Juvenile xanthogranuloma' SubClassOf 'disease' + 'Juvenile xanthogranuloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile xanthogranuloma' SubClassOf 'disease' + 'Juvenile xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_123893 Label: nephrosis 2, idiopathic, steroid-resistant (podocin) - 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' - 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' - 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'gene' + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25-q31"^^http://www.w3.org/2001/XMLSchema#string + 'nephrosis 2, idiopathic, steroid-resistant (podocin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_264675 Label: Congenital pulmonary alveolar proteinosis - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pulmonary alveolar proteinosis' SubClassOf 'disease' + 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital pulmonary alveolar proteinosis' SubClassOf 'disease' + 'Congenital pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98127 Label: Autosomal anomaly - 'Autosomal anomaly' SubClassOf 'group of disorders' + 'Autosomal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118643 Label: surfactant protein C - 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic respiratory distress with surfactant metabolism deficiency' - 'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Infant acute respiratory distress syndrome' - 'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'surfactant protein C' SubClassOf 'gene' - 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' - 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desquamative interstitial pneumonia' + 'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Infant acute respiratory distress syndrome' + 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic respiratory distress with surfactant metabolism deficiency' + 'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'surfactant protein C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desquamative interstitial pneumonia' + 'surfactant protein C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21"^^http://www.w3.org/2001/XMLSchema#string + 'surfactant protein C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_167848 Label: Cardiomyopathy - 'Cardiomyopathy' SubClassOf 'group of disorders' + 'Cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261974 Label: Partial deletion of the short arm of chromosome 18 - 'Partial deletion of the short arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209970 Label: Episodic ataxia type 7 - 'Episodic ataxia type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Episodic ataxia type 7' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Episodic ataxia type 7' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia type 7' SubClassOf 'disease' - 'Episodic ataxia type 7' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Episodic ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Episodic ataxia type 7' SubClassOf 'disease' + 'Episodic ataxia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Episodic ataxia type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Episodic ataxia type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_201494 Label: BCL2-associated athanogene 3 - 'BCL2-associated athanogene 3' SubClassOf 'gene' - 'BCL2-associated athanogene 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'BCL2-associated athanogene 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscular dystrophy, Selcen type' + 'BCL2-associated athanogene 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'BCL2-associated athanogene 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscular dystrophy, Selcen type' + 'BCL2-associated athanogene 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BCL2-associated athanogene 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.2-q26.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118647 Label: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) - 'sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2D' - 'sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)' SubClassOf 'gene' + 'sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2D' + 'sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121619 Label: electron-transfer-flavoprotein, alpha polypeptide - 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'gene' - 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' - 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23-q25"^^http://www.w3.org/2001/XMLSchema#string + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' Class: http://www.orpha.net/ORDO/Orphanet_201496 Label: intestinal cell (MAK-like) kinase - 'intestinal cell (MAK-like) kinase' SubClassOf 'gene' - 'intestinal cell (MAK-like) kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Endocrine-cerebro-osteodysplasia syndrome' + 'intestinal cell (MAK-like) kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intestinal cell (MAK-like) kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.3-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'intestinal cell (MAK-like) kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Endocrine-cerebro-osteodysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_158038 Label: Primary hemophagocytic lymphohistiocytosis - 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'group of disorders' + 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209978 Label: Alternating hemiplegia - 'Alternating hemiplegia' SubClassOf 'group of disorders' + 'Alternating hemiplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123889 Label: nephrosis 1, congenital, Finnish type (nephrin) - 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital nephrotic syndrome, Finnish type' - 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'gene' - 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' - 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q12-q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital nephrotic syndrome, Finnish type' + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nephrosis 1, congenital, Finnish type (nephrin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' Class: http://www.orpha.net/ORDO/Orphanet_368150 Label: NIMA-related kinase 2 - 'NIMA-related kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'NIMA-related kinase 2' SubClassOf 'gene' + 'NIMA-related kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIMA-related kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'NIMA-related kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123884 Label: nephronophthisis 4 - 'nephronophthisis 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' - 'nephronophthisis 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'nephronophthisis 4' SubClassOf 'gene' + 'nephronophthisis 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nephronophthisis 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'nephronophthisis 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'nephronophthisis 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121624 Label: electron-transfer-flavoprotein, beta polypeptide - 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' - 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'gene' - 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3-q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple acyl-CoA dehydrogenation deficiency, mild type' Class: http://www.orpha.net/ORDO/Orphanet_209973 Label: Benign familial nocturnal alternating hemiplegia of childhood - 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'part_of' some 'Alternating hemiplegia' - 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'disease' + 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alternating hemiplegia' + 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_167854 Label: forkhead box G1 - 'forkhead box G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' - 'forkhead box G1' SubClassOf 'gene' - 'forkhead box G1' SubClassOf 'Role in the phenotype of' some '14q11.2 microduplication syndrome' - 'forkhead box G1' SubClassOf 'Role in the phenotype of' some '14q12 microdeletion syndrome' + 'forkhead box G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'forkhead box G1' SubClassOf 'Role in the phenotype of' some '14q11.2 microduplication syndrome' + 'forkhead box G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box G1' SubClassOf 'Role in the phenotype of' some '14q12 microdeletion syndrome' + 'forkhead box G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11-q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261983 Label: Partial deletion of the short arm of chromosome 19 - 'Partial deletion of the short arm of chromosome 19' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158032 Label: Hemophagocytic syndrome - 'Hemophagocytic syndrome' SubClassOf 'group of disorders' + 'Hemophagocytic syndrome' SubClassOf 'group of disorders' + 'Hemophagocytic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hemophagocytic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemophagocytic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_169079 Label: Cernunnos-XLF deficiency - 'Cernunnos-XLF deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cernunnos-XLF deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cernunnos-XLF deficiency' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Cernunnos-XLF deficiency' SubClassOf 'disease' - 'Cernunnos-XLF deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Cernunnos-XLF deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cernunnos-XLF deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Cernunnos-XLF deficiency' SubClassOf 'disease' + 'Cernunnos-XLF deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cernunnos-XLF deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Cernunnos-XLF deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cernunnos-XLF deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cernunnos-XLF deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79194 Label: Disorder of serine or glycine metabolism - 'Disorder of serine or glycine metabolism' SubClassOf 'group of disorders' + 'Disorder of serine or glycine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169082 Label: Combined immunodeficiency due to CD3gamma deficiency - 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_201488 Label: cytochrome c oxidase subunit IV isoform 2 (lung) - 'cytochrome c oxidase subunit IV isoform 2 (lung)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic insufficiency - anemia - hyperostosis' - 'cytochrome c oxidase subunit IV isoform 2 (lung)' SubClassOf 'gene' + 'cytochrome c oxidase subunit IV isoform 2 (lung)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase subunit IV isoform 2 (lung)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase subunit IV isoform 2 (lung)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic insufficiency - anemia - hyperostosis' Class: http://www.orpha.net/ORDO/Orphanet_79193 Label: Disorder of pyrimidine metabolism - 'Disorder of pyrimidine metabolism' SubClassOf 'group of disorders' + 'Disorder of pyrimidine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79196 Label: Disorder of the gamma-glutamyl cycle - 'Disorder of the gamma-glutamyl cycle' SubClassOf 'group of disorders' + 'Disorder of the gamma-glutamyl cycle' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79195 Label: Sterol biosynthesis disorder - 'Sterol biosynthesis disorder' SubClassOf 'group of disorders' + 'Sterol biosynthesis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79197 Label: Disorder of branched-chain amino acid metabolism - 'Disorder of branched-chain amino acid metabolism' SubClassOf 'group of disorders' + 'Disorder of branched-chain amino acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118653 Label: sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) - 'sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)' SubClassOf 'gene' - 'sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2E' + 'sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2E' + 'sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121604 Label: excision repair cross-complementation group 8 - 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 3' - 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' - 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 1' - 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' - 'excision repair cross-complementation group 8' SubClassOf 'gene' + 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 3' + 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' + 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 1' + 'excision repair cross-complementation group 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' + 'excision repair cross-complementation group 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121608 Label: v-ets avian erythroblastosis virus E26 oncogene homolog - 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Peripheral primitive neuroectodermal tumor' - 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'gene' - 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' - 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Peripheral primitive neuroectodermal tumor' + 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' + 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'v-ets avian erythroblastosis virus E26 oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_118658 Label: sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) - 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf 'gene' - 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2F' + 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2F' + 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158029 Label: Sea-blue histiocytosis - 'Sea-blue histiocytosis' SubClassOf 'disease' - 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Sea-blue histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sea-blue histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Rare genetic disease' + 'Sea-blue histiocytosis' SubClassOf 'disease' + 'Sea-blue histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' + 'Sea-blue histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' + 'Sea-blue histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sea-blue histiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Sea-blue histiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123878 Label: nephronophthisis 3 (adolescent) - 'nephronophthisis 3 (adolescent)' SubClassOf 'gene' - 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset autosomal recessive medullary cystic kidney disease' - 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'NPHP3-related Meckel-like syndrome' - 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal-hepatic-pancreatic dysplasia' - 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'nephronophthisis 3 (adolescent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset autosomal recessive medullary cystic kidney disease' + 'nephronophthisis 3 (adolescent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q22"^^http://www.w3.org/2001/XMLSchema#string + 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'NPHP3-related Meckel-like syndrome' + 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'nephronophthisis 3 (adolescent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal-hepatic-pancreatic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_391497 Label: Juvenile myasthenia gravis - 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' - 'Juvenile myasthenia gravis' SubClassOf 'clinical subtype' + 'Juvenile myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myasthenia gravis' + 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juvenile myasthenia gravis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Juvenile myasthenia gravis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_209967 Label: Episodic ataxia type 6 - 'Episodic ataxia type 6' SubClassOf 'disease' - 'Episodic ataxia type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Episodic ataxia type 6' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Episodic ataxia type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Episodic ataxia type 6' SubClassOf 'disease' + 'Episodic ataxia type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Episodic ataxia type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Episodic ataxia type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Episodic ataxia type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123874 Label: nephronophthisis 1 (juvenile) - 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' - 'nephronophthisis 1 (juvenile)' SubClassOf 'gene' - 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' + 'nephronophthisis 1 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string + 'nephronophthisis 1 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bardet-Biedl syndrome' + 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'nephronophthisis 1 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121610 Label: establishment of sister chromatid cohesion N-acetyltransferase 2 - 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf 'gene' - 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roberts syndrome' + 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roberts syndrome' + 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_209964 Label: Solitary rectal ulcer syndrome - 'Solitary rectal ulcer syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Solitary rectal ulcer syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Solitary rectal ulcer syndrome' SubClassOf 'part_of' some 'Rare intestinal disease' - 'Solitary rectal ulcer syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Solitary rectal ulcer syndrome' SubClassOf 'disease' + 'Solitary rectal ulcer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Solitary rectal ulcer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Solitary rectal ulcer syndrome' SubClassOf 'disease' + 'Solitary rectal ulcer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Solitary rectal ulcer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_264691 Label: Isolated pulmonary capillaritis - 'Isolated pulmonary capillaritis' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated pulmonary capillaritis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated pulmonary capillaritis' SubClassOf 'disease' - 'Isolated pulmonary capillaritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated pulmonary capillaritis' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Isolated pulmonary capillaritis' SubClassOf 'disease' + 'Isolated pulmonary capillaritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated pulmonary capillaritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Isolated pulmonary capillaritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123870 Label: Niemann-Pick disease, type C2 - 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe perinatal form' - 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe early infantile neurologic onset' - 'Niemann-Pick disease, type C2' SubClassOf 'gene' - 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, adult neurologic onset' - 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, juvenile neurologic onset' - 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, late infantile neurologic onset' + 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe perinatal form' + 'Niemann-Pick disease, type C2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe early infantile neurologic onset' + 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, adult neurologic onset' + 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, juvenile neurologic onset' + 'Niemann-Pick disease, type C2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, late infantile neurologic onset' + 'Niemann-Pick disease, type C2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261992 Label: Partial monosomy of the short arm of chromosome 20 - 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'group of disorders' + 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158022 Label: Progressive nodular histiocytosis - 'Progressive nodular histiocytosis' SubClassOf 'disease' - 'Progressive nodular histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Progressive nodular histiocytosis' SubClassOf 'disease' + 'Progressive nodular histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_264694 Label: Interstitial lung disease specific to infancy - 'Interstitial lung disease specific to infancy' SubClassOf 'group of disorders' + 'Interstitial lung disease specific to infancy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_391490 Label: Adult-onset myasthenia gravis - 'Adult-onset myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset myasthenia gravis' SubClassOf 'clinical subtype' - 'Adult-onset myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' - 'Adult-onset myasthenia gravis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Adult-onset myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "31.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset myasthenia gravis' SubClassOf 'clinical subtype' + 'Adult-onset myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_158025 Label: Hereditary progressive mucinous histiocytosis - 'Hereditary progressive mucinous histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary progressive mucinous histiocytosis' SubClassOf 'disease' - 'Hereditary progressive mucinous histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Hereditary progressive mucinous histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary progressive mucinous histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Hereditary progressive mucinous histiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary progressive mucinous histiocytosis' SubClassOf 'disease' + 'Hereditary progressive mucinous histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_169085 Label: Susceptibility to respiratory infections associated with CD8alpha chain mutation - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'disease' - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'disease' + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79190 Label: Disorder of phenylalanin or tyrosine metabolism - 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'group of disorders' + 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79191 Label: Disorder of purine metabolism - 'Disorder of purine metabolism' SubClassOf 'group of disorders' + 'Disorder of purine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79192 Label: Disorder of pyridoxine metabolism - 'Disorder of pyridoxine metabolism' SubClassOf 'group of disorders' + 'Disorder of pyridoxine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264699 Label: Secondary interstitial lung disease specific to childhood associated with a systemic disease - 'Secondary interstitial lung disease specific to childhood associated with a systemic disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease specific to childhood associated with a systemic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123858 Label: notch 2 - 'notch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alagille syndrome due to a NOTCH2 point mutation' - 'notch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acroosteolysis dominant type' - 'notch 2' SubClassOf 'gene' + 'notch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alagille syndrome due to a NOTCH2 point mutation' + 'notch 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Acroosteolysis dominant type' + 'notch 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'notch 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13-p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_300895 Label: ALK-positive anaplastic large cell lymphoma - 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'part_of' some 'Anaplastic large cell lymphoma' - 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'histopathological subtype' - 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'histopathological subtype' + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'ALK-positive anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_353330 Label: protection of telomeres 1 - 'protection of telomeres 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' - 'protection of telomeres 1' SubClassOf 'gene' - 'protection of telomeres 1' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'protection of telomeres 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' + 'protection of telomeres 1' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'protection of telomeres 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protection of telomeres 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_244720 Label: protein phosphatase, Mg2+/Mn2+ dependent, 1B - 'protein phosphatase, Mg2+/Mn2+ dependent, 1B' SubClassOf 'gene' - 'protein phosphatase, Mg2+/Mn2+ dependent, 1B' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' + 'protein phosphatase, Mg2+/Mn2+ dependent, 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein phosphatase, Mg2+/Mn2+ dependent, 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein phosphatase, Mg2+/Mn2+ dependent, 1B' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353334 Label: Congenital retinal arteriovenous communication - 'Congenital retinal arteriovenous communication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital retinal arteriovenous communication' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital retinal arteriovenous communication' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Congenital retinal arteriovenous communication' SubClassOf 'morphological anomaly' - 'Congenital retinal arteriovenous communication' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Congenital retinal arteriovenous communication' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital retinal arteriovenous communication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital retinal arteriovenous communication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital retinal arteriovenous communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Congenital retinal arteriovenous communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Congenital retinal arteriovenous communication' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_158057 Label: Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease - 'Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease' SubClassOf 'part_of' some 'Secondary hemophagocytic lymphohistiocytosis' - 'Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary hemophagocytic lymphohistiocytosis' + 'Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_244716 Label: calmodulin-lysine N-methyltransferase - 'calmodulin-lysine N-methyltransferase' SubClassOf 'gene' - 'calmodulin-lysine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' - 'calmodulin-lysine N-methyltransferase' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' - 'calmodulin-lysine N-methyltransferase' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' + 'calmodulin-lysine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calmodulin-lysine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' + 'calmodulin-lysine N-methyltransferase' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' + 'calmodulin-lysine N-methyltransferase' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' + 'calmodulin-lysine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276234 Label: Non-syndromic male infertility due to sperm motility disorder - 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'part_of' some 'Male infertility due to sperm motility disorder' - 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'disease' - 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'disease' + 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_123860 Label: notch 3 - 'notch 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' - 'notch 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CADASIL' - 'notch 3' SubClassOf 'gene' + 'notch 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'notch 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' + 'notch 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CADASIL' + 'notch 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2-p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276238 Label: Machado-Joseph disease type 1 - 'Machado-Joseph disease type 1' SubClassOf 'clinical subtype' - 'Machado-Joseph disease type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Machado-Joseph disease type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Machado-Joseph disease type 1' SubClassOf 'part_of' some 'Spinocerebellar ataxia type 3' - 'Machado-Joseph disease type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Machado-Joseph disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Machado-Joseph disease type 1' SubClassOf 'clinical subtype' + 'Machado-Joseph disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia type 3' + 'Machado-Joseph disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123864 Label: purine nucleoside phosphorylase - 'purine nucleoside phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Purine nucleoside phosphorylase deficiency' - 'purine nucleoside phosphorylase' SubClassOf 'gene' + 'purine nucleoside phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Purine nucleoside phosphorylase deficiency' + 'purine nucleoside phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'purine nucleoside phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123868 Label: Niemann-Pick disease, type C1 - 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, adult neurologic onset' - 'Niemann-Pick disease, type C1' SubClassOf 'gene' - 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe early infantile neurologic onset' - 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, juvenile neurologic onset' - 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, late infantile neurologic onset' - 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe perinatal form' + 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, adult neurologic onset' + 'Niemann-Pick disease, type C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Niemann-Pick disease, type C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe early infantile neurologic onset' + 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, juvenile neurologic onset' + 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, late infantile neurologic onset' + 'Niemann-Pick disease, type C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type C, severe perinatal form' Class: http://www.orpha.net/ORDO/Orphanet_406759 Label: ribosomal protein S29 - 'ribosomal protein S29' SubClassOf 'gene' - 'ribosomal protein S29' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S29' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Blackfan-Diamond anemia' + 'ribosomal protein S29' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S29' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_300888 Label: Diffuse large B-cell lymphoma with chronic inflammation - 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf 'disease' - 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf 'disease' + 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_375701 Label: transforming growth factor, beta receptor III - 'transforming growth factor, beta receptor III' SubClassOf 'gene' - 'transforming growth factor, beta receptor III' SubClassOf 'Candidate gene tested in' some 'Familial cerebral saccular aneurysm' + 'transforming growth factor, beta receptor III' SubClassOf 'Candidate gene tested in' some 'Familial cerebral saccular aneurysm' + 'transforming growth factor, beta receptor III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p33-p32"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, beta receptor III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_391428 Label: HSD10 disease, infantile type - 'HSD10 disease, infantile type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'HSD10 disease, infantile type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'HSD10 disease, infantile type' SubClassOf 'part_of' some 'HSD10 disease' - 'HSD10 disease, infantile type' SubClassOf 'clinical subtype' + 'HSD10 disease, infantile type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'HSD10 disease, infantile type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HSD10 disease' + 'HSD10 disease, infantile type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'HSD10 disease, infantile type' SubClassOf 'clinical subtype' + 'HSD10 disease, infantile type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_353344 Label: Idiopathic macular telangiectasia type 1 - 'Idiopathic macular telangiectasia type 1' SubClassOf 'disease' - 'Idiopathic macular telangiectasia type 1' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Idiopathic macular telangiectasia type 1' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Idiopathic macular telangiectasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Idiopathic macular telangiectasia type 1' SubClassOf 'disease' + 'Idiopathic macular telangiectasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_244711 Label: IL2-inducible T-cell kinase - 'IL2-inducible T-cell kinase' SubClassOf 'gene' - 'IL2-inducible T-cell kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' + 'IL2-inducible T-cell kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'IL2-inducible T-cell kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IL2-inducible T-cell kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_276244 Label: Machado-Joseph disease type 3 - 'Machado-Joseph disease type 3' SubClassOf 'part_of' some 'Spinocerebellar ataxia type 3' - 'Machado-Joseph disease type 3' SubClassOf 'clinical subtype' - 'Machado-Joseph disease type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Machado-Joseph disease type 3' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Machado-Joseph disease type 3' SubClassOf 'has_prevalence' some 'Unknown' + 'Machado-Joseph disease type 3' SubClassOf 'clinical subtype' + 'Machado-Joseph disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia type 3' + 'Machado-Joseph disease type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Machado-Joseph disease type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_158048 Label: Hemophagocytic syndrome associated with an infection - 'Hemophagocytic syndrome associated with an infection' SubClassOf 'part_of' some 'Secondary hemophagocytic lymphohistiocytosis' - 'Hemophagocytic syndrome associated with an infection' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Hemophagocytic syndrome associated with an infection' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Hemophagocytic syndrome associated with an infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary hemophagocytic lymphohistiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_244706 Label: bile acid CoA:amino acid N-acyltransferase - 'bile acid CoA:amino acid N-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' - 'bile acid CoA:amino acid N-acyltransferase' SubClassOf 'gene' + 'bile acid CoA:amino acid N-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' + 'bile acid CoA:amino acid N-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'bile acid CoA:amino acid N-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276249 Label: Xeroderma pigmentosum complementation group A - 'Xeroderma pigmentosum complementation group A' SubClassOf 'clinical subtype' - 'Xeroderma pigmentosum complementation group A' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum complementation group A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum complementation group A' SubClassOf 'part_of' some 'Xeroderma pigmentosum' - 'Xeroderma pigmentosum complementation group A' SubClassOf 'has_prevalence' some 'Unknown' - 'Xeroderma pigmentosum complementation group A' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum complementation group A' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum complementation group A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum complementation group A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum complementation group A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Xeroderma pigmentosum' + 'Xeroderma pigmentosum complementation group A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' Class: http://www.orpha.net/ORDO/Orphanet_406765 Label: coiled-coil-helix-coiled-coil-helix domain containing 10 - 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'gene' - 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_158041 Label: Secondary hemophagocytic lymphohistiocytosis - 'Secondary hemophagocytic lymphohistiocytosis' SubClassOf 'group of disorders' + 'Secondary hemophagocytic lymphohistiocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276241 Label: Machado-Joseph disease type 2 - 'Machado-Joseph disease type 2' SubClassOf 'clinical subtype' - 'Machado-Joseph disease type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Machado-Joseph disease type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Machado-Joseph disease type 2' SubClassOf 'part_of' some 'Spinocerebellar ataxia type 3' - 'Machado-Joseph disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Machado-Joseph disease type 2' SubClassOf 'clinical subtype' + 'Machado-Joseph disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Machado-Joseph disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia type 3' + 'Machado-Joseph disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123854 Label: noggin - 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' - 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal symphalangism' - 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stapes ankylosis with broad thumbs and toes' - 'noggin' SubClassOf 'gene' - 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type B2' - 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tarsal-carpal coalition syndrome' + 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal symphalangism' + 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' + 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stapes ankylosis with broad thumbs and toes' + 'noggin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'noggin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22"^^http://www.w3.org/2001/XMLSchema#string + 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type B2' + 'noggin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tarsal-carpal coalition syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353351 Label: Idiopathic macular telangiectasia type 3 - 'Idiopathic macular telangiectasia type 3' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Idiopathic macular telangiectasia type 3' SubClassOf 'disease' - 'Idiopathic macular telangiectasia type 3' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Idiopathic macular telangiectasia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Idiopathic macular telangiectasia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Idiopathic macular telangiectasia type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391457 Label: HSD10 disease, neonatal type - 'HSD10 disease, neonatal type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'HSD10 disease, neonatal type' SubClassOf 'part_of' some 'HSD10 disease' - 'HSD10 disease, neonatal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'HSD10 disease, neonatal type' SubClassOf 'clinical subtype' - 'HSD10 disease, neonatal type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'HSD10 disease, neonatal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HSD10 disease' + 'HSD10 disease, neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'HSD10 disease, neonatal type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HSD10 disease, neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'HSD10 disease, neonatal type' SubClassOf 'clinical subtype' + 'HSD10 disease, neonatal type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_88919 Label: Autosomal recessive Alport syndrome - 'Autosomal recessive Alport syndrome' SubClassOf 'etiological subtype' - 'Autosomal recessive Alport syndrome' SubClassOf 'part_of' some 'Alport syndrome' - 'Autosomal recessive Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive Alport syndrome' SubClassOf 'etiological subtype' + 'Autosomal recessive Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alport syndrome' + 'Autosomal recessive Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_300878 Label: Hairy cell leukemia variant - 'Hairy cell leukemia variant' SubClassOf 'disease' - 'Hairy cell leukemia variant' SubClassOf 'has_prevalence' some 'Unknown' - 'Hairy cell leukemia variant' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Hairy cell leukemia variant' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' - 'Hairy cell leukemia variant' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Hairy cell leukemia variant' SubClassOf 'disease' + 'Hairy cell leukemia variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' + 'Hairy cell leukemia variant' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia variant' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Hairy cell leukemia variant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_88918 Label: Autosomal dominant Alport syndrome - 'Autosomal dominant Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Alport syndrome' SubClassOf 'etiological subtype' - 'Autosomal dominant Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Alport syndrome' SubClassOf 'part_of' some 'Alport syndrome' + 'Autosomal dominant Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alport syndrome' + 'Autosomal dominant Alport syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_88917 Label: X-linked Alport syndrome - 'X-linked Alport syndrome' SubClassOf 'part_of' some 'Alport syndrome' - 'X-linked Alport syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked Alport syndrome' SubClassOf 'etiological subtype' - 'X-linked Alport syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'X-linked Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'X-linked Alport syndrome' SubClassOf 'etiological subtype' + 'X-linked Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alport syndrome' + 'X-linked Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_118689 Label: SH3-domain binding protein 2 - 'SH3-domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cherubism' - 'SH3-domain binding protein 2' SubClassOf 'gene' + 'SH3-domain binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'SH3-domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cherubism' + 'SH3-domain binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_244742 Label: interleukin 10 receptor, beta - 'interleukin 10 receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' - 'interleukin 10 receptor, beta' SubClassOf 'gene' + 'interleukin 10 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 10 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.11"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 10 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive early-onset inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_353356 Label: Vasoproliferative tumor of the retina - 'Vasoproliferative tumor of the retina' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Vasoproliferative tumor of the retina' SubClassOf 'disease' - 'Vasoproliferative tumor of the retina' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Vasoproliferative tumor of the retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Vasoproliferative tumor of the retina' SubClassOf 'disease' + 'Vasoproliferative tumor of the retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_158072 Label: pyruvate dehyrogenase phosphatase catalytic subunit 1 - 'pyruvate dehyrogenase phosphatase catalytic subunit 1' SubClassOf 'gene' - 'pyruvate dehyrogenase phosphatase catalytic subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase phosphatase deficiency' + 'pyruvate dehyrogenase phosphatase catalytic subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate dehyrogenase phosphatase catalytic subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehyrogenase phosphatase catalytic subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase phosphatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_158077 Label: trehalase (brush-border membrane glycoprotein) - 'trehalase (brush-border membrane glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diarrhea-vomiting due to trehalase deficiency' - 'trehalase (brush-border membrane glycoprotein)' SubClassOf 'gene' + 'trehalase (brush-border membrane glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'trehalase (brush-border membrane glycoprotein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diarrhea-vomiting due to trehalase deficiency' + 'trehalase (brush-border membrane glycoprotein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276212 Label: Mucopolysaccharidosis type 6, rapidly progressing - 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 6' - 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 6' + 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_244737 Label: interleukin 10 receptor, alpha - 'interleukin 10 receptor, alpha' SubClassOf 'gene' - 'interleukin 10 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' + 'interleukin 10 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive early-onset inflammatory bowel disease' + 'interleukin 10 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 10 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123845 Label: nucleotide-binding oligomerization domain containing 2 - 'nucleotide-binding oligomerization domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blau syndrome' - 'nucleotide-binding oligomerization domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'nucleotide-binding oligomerization domain containing 2' SubClassOf 'gene' + 'nucleotide-binding oligomerization domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blau syndrome' + 'nucleotide-binding oligomerization domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12"^^http://www.w3.org/2001/XMLSchema#string + 'nucleotide-binding oligomerization domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'nucleotide-binding oligomerization domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_300865 Label: Primary cutaneous anaplastic large cell lymphoma - 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'disease' - 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'part_of' some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'disease' + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_300869 Label: Splenic diffuse red pulp lymphoma - 'Splenic diffuse red pulp lymphoma' SubClassOf 'disease' - 'Splenic diffuse red pulp lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' + 'Splenic diffuse red pulp lymphoma' SubClassOf 'disease' + 'Splenic diffuse red pulp lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_353369 Label: STAM binding protein - 'STAM binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-capillary malformation syndrome' - 'STAM binding protein' SubClassOf 'gene' + 'STAM binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-capillary malformation syndrome' + 'STAM binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3-p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'STAM binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158061 Label: Macrophage activation syndrome - 'Macrophage activation syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'Macrophage activation syndrome' SubClassOf 'clinical syndrome' - 'Macrophage activation syndrome' SubClassOf 'part_of' some 'Secondary hemophagocytic lymphohistiocytosis' + 'Macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Macrophage activation syndrome' SubClassOf 'clinical syndrome' + 'Macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary hemophagocytic lymphohistiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_118697 Label: SH3 and multiple ankyrin repeat domains 3 - 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'gene' - 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'Role in the phenotype of' some 'Monosomy 22q13' + 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'Role in the phenotype of' some 'Monosomy 22q13' + 'SH3 and multiple ankyrin repeat domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'SH3 and multiple ankyrin repeat domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88924 Label: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'disease' - 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'disease' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_158065 Label: aspartyl-tRNA synthetase 2, mitochondrial - 'aspartyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' - 'aspartyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'aspartyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aspartyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' + 'aspartyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118693 Label: SH3 domain and tetratricopeptide repeats 2 - 'SH3 domain and tetratricopeptide repeats 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4C' - 'SH3 domain and tetratricopeptide repeats 2' SubClassOf 'gene' + 'SH3 domain and tetratricopeptide repeats 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4C' + 'SH3 domain and tetratricopeptide repeats 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH3 domain and tetratricopeptide repeats 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276223 Label: Mucopolysaccharidosis type 6, slowly progressing - 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'clinical subtype' - 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 6' + 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 6' Class: http://www.orpha.net/ORDO/Orphanet_123834 Label: NLR family, pyrin domain containing 7 - 'NLR family, pyrin domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial hydatidiform mole' - 'NLR family, pyrin domain containing 7' SubClassOf 'gene' - 'NLR family, pyrin domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' + 'NLR family, pyrin domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial hydatidiform mole' + 'NLR family, pyrin domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.42"^^http://www.w3.org/2001/XMLSchema#string + 'NLR family, pyrin domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, pyrin domain containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' Class: http://www.orpha.net/ORDO/Orphanet_209902 Label: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Disorder of bile acid synthesis' - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'disease' - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare hyperlipidemia' - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperlipidemia' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'disease' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bile acid synthesis' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_163634 Label: Maffucci syndrome - 'Maffucci syndrome' SubClassOf 'disease' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'Maffucci syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Maffucci syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Rare bone tumor' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Maffucci syndrome' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Maffucci syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Maffucci syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Maffucci syndrome' SubClassOf 'disease' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Maffucci syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_163637 Label: Rare disorder related with pregnancy, childbirth and puerperium - 'Rare disorder related with pregnancy, childbirth and puerperium' SubClassOf 'group of disorders' + 'Rare disorder related with pregnancy, childbirth and puerperium' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169105 Label: Good syndrome - 'Good syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Good syndrome' SubClassOf 'disease' - 'Good syndrome' SubClassOf 'part_of' some 'Acquired immunodeficiency' + 'Good syndrome' SubClassOf 'disease' + 'Good syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired immunodeficiency' + 'Good syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_169100 Label: Immunodeficiency due to CD25 deficiency - 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency due to CD25 deficiency' SubClassOf 'disease' - 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Immunodeficiency due to CD25 deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Immunodeficiency due to CD25 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Immunodeficiency due to CD25 deficiency' SubClassOf 'disease' + 'Immunodeficiency due to CD25 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency due to CD25 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_209908 Label: Childhood apraxia of speech - 'Childhood apraxia of speech' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Childhood apraxia of speech' SubClassOf 'part_of' some 'Specific language disorder' - 'Childhood apraxia of speech' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood apraxia of speech' SubClassOf 'disease' - 'Childhood apraxia of speech' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Childhood apraxia of speech' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Childhood apraxia of speech' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Childhood apraxia of speech' SubClassOf 'disease' + 'Childhood apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Specific language disorder' + 'Childhood apraxia of speech' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Childhood apraxia of speech' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_209905 Label: Brain-lung-thyroid syndrome - 'Brain-lung-thyroid syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brain-lung-thyroid syndrome' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' - 'Brain-lung-thyroid syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brain-lung-thyroid syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Brain-lung-thyroid syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Brain-lung-thyroid syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Brain-lung-thyroid syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain-lung-thyroid syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' - 'Brain-lung-thyroid syndrome' SubClassOf 'disease' + 'Brain-lung-thyroid syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brain-lung-thyroid syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Brain-lung-thyroid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brain-lung-thyroid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Brain-lung-thyroid syndrome' SubClassOf 'disease' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_250999 Label: 1q41q42 microdeletion syndrome - '1q41q42 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '1q41q42 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '1q41q42 microdeletion syndrome' SubClassOf 'malformation syndrome' - '1q41q42 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '1q41q42 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 1' + '1q41q42 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '1q41q42 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 1' + '1q41q42 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '1q41q42 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '1q41q42 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '1q41q42 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201546 Label: kelch-like family member 7 - 'kelch-like family member 7' SubClassOf 'gene' - 'kelch-like family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'kelch-like family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kelch-like family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.3"^^http://www.w3.org/2001/XMLSchema#string + 'kelch-like family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_119844 Label: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) - 'sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)' SubClassOf 'gene' - 'sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' + 'sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' + 'sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p14-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_201543 Label: obscurin-like 1 - 'obscurin-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' - 'obscurin-like 1' SubClassOf 'gene' + 'obscurin-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'obscurin-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' + 'obscurin-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_316325 Label: Usher syndrome 1H (autosomal recessive) - 'Usher syndrome 1H (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'Usher syndrome 1H (autosomal recessive)' SubClassOf 'gene' + 'Usher syndrome 1H (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'Usher syndrome 1H (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'Usher syndrome 1H (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_199279 Label: Familial angiolipomatosis - 'Familial angiolipomatosis' SubClassOf 'disease' - 'Familial angiolipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Familial angiolipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Familial angiolipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Familial angiolipomatosis' SubClassOf 'disease' + 'Familial angiolipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_119840 Label: serine peptidase inhibitor, Kazal type 5 - 'serine peptidase inhibitor, Kazal type 5' SubClassOf 'gene' - 'serine peptidase inhibitor, Kazal type 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Netherton syndrome' + 'serine peptidase inhibitor, Kazal type 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'serine peptidase inhibitor, Kazal type 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine peptidase inhibitor, Kazal type 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Netherton syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199276 Label: Familial multiple lipomatosis - 'Familial multiple lipomatosis' SubClassOf 'disease' - 'Familial multiple lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Familial multiple lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Familial multiple lipomatosis' SubClassOf 'disease' + 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_391504 Label: Transient neonatal myasthenia gravis - 'Transient neonatal myasthenia gravis' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' - 'Transient neonatal myasthenia gravis' SubClassOf 'clinical subtype' - 'Transient neonatal myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transient neonatal myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' + 'Transient neonatal myasthenia gravis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Transient neonatal myasthenia gravis' SubClassOf 'clinical subtype' + 'Transient neonatal myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Transient neonatal myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Transient neonatal myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myasthenia gravis' + 'Transient neonatal myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_119846 Label: spectrin, alpha, erythrocytic 1 - 'spectrin, alpha, erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'spectrin, alpha, erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' - 'spectrin, alpha, erythrocytic 1' SubClassOf 'gene' + 'spectrin, alpha, erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'spectrin, alpha, erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin, alpha, erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'spectrin, alpha, erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119849 Label: spectrin, beta, erythrocytic - 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' - 'spectrin, beta, erythrocytic' SubClassOf 'gene' + 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' + 'spectrin, beta, erythrocytic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin, beta, erythrocytic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1-q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140541 Label: RPGRIP1-like - 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' - 'RPGRIP1-like' SubClassOf 'gene' - 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' - 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' + 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' + 'RPGRIP1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'RPGRIP1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'RPGRIP1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123821 Label: NLR family, pyrin domain containing 3 - 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cold urticaria' - 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muckle-Wells syndrome' - 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome with NLRP3 mutations' - 'NLR family, pyrin domain containing 3' SubClassOf 'gene' + 'NLR family, pyrin domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cold urticaria' + 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muckle-Wells syndrome' + 'NLR family, pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome with NLRP3 mutations' + 'NLR family, pyrin domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209919 Label: Idiopathic copper-associated cirrhosis - 'Idiopathic copper-associated cirrhosis' SubClassOf 'disease' - 'Idiopathic copper-associated cirrhosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic copper-associated cirrhosis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Idiopathic copper-associated cirrhosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Idiopathic copper-associated cirrhosis' SubClassOf 'disease' + 'Idiopathic copper-associated cirrhosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic copper-associated cirrhosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Idiopathic copper-associated cirrhosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_250994 Label: 1q21.1 microduplication syndrome - '1q21.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '1q21.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '1q21.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '1q21.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 1' - '1q21.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '1q21.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '1q21.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '1q21.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 1' + '1q21.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '1q21.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '1q21.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '1q21.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '1q21.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_209916 Label: Extraskeletal myxoid chondrosarcoma - 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'disease' + 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Extraskeletal myxoid chondrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Extraskeletal myxoid chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Extraskeletal myxoid chondrosarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_316333 Label: calcium and integrin binding family member 2 - 'calcium and integrin binding family member 2' SubClassOf 'gene' - 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'calcium and integrin binding family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24"^^http://www.w3.org/2001/XMLSchema#string + 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'calcium and integrin binding family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'calcium and integrin binding family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119834 Label: serine peptidase inhibitor, Kazal type 1 - 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' - 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'gene' - 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' + 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' + 'serine peptidase inhibitor, Kazal type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'serine peptidase inhibitor, Kazal type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary chronic pancreatitis' + 'serine peptidase inhibitor, Kazal type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_275808 Label: Pulmonary arterial hypertension associated with HIV infection - 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_54595 Label: Craniopharyngioma - 'Craniopharyngioma' SubClassOf 'part_of' some 'Rare nervous system tumor' - 'Craniopharyngioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Craniopharyngioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Craniopharyngioma' SubClassOf 'part_of' some 'Rare endocrine growth disease' - 'Craniopharyngioma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Craniopharyngioma' SubClassOf 'disease' - 'Craniopharyngioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Craniopharyngioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniopharyngioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nervous system tumor' + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare endocrine growth disease' + 'Craniopharyngioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniopharyngioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniopharyngioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Craniopharyngioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_250989 Label: 1q21.1 microdeletion syndrome - '1q21.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '1q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '1q21.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '1q21.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 1' - '1q21.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '1q21.1 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' + '1q21.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '1q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '1q21.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '1q21.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '1q21.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_275803 Label: Pulmonary arterial hypertension associated with congenital heart disease - 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.026"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_139855 Label: fibulin 1 - 'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' - 'fibulin 1' SubClassOf 'gene' - 'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synpolydactyly type 2' + 'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' + 'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synpolydactyly type 2' + 'fibulin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibulin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_199285 Label: Hereditary hypercarotenemia and vitamin A deficiency - 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disease' - 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disease' + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_201551 Label: glypican 6 - 'glypican 6' SubClassOf 'gene' - 'glypican 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive omodysplasia' + 'glypican 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive omodysplasia' + 'glypican 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32"^^http://www.w3.org/2001/XMLSchema#string + 'glypican 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163631 Label: Bile acid synthesis defect with cholestasis and malabsorption - 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'group of disorders' + 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199282 Label: Harlequin syndrome - 'Harlequin syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Harlequin syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Harlequin syndrome' SubClassOf 'disease' - 'Harlequin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Harlequin syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Harlequin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Harlequin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Harlequin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Harlequin syndrome' SubClassOf 'disease' + 'Harlequin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_201553 Label: EMG1 N1-specific pseudouridine methyltransferase - 'EMG1 N1-specific pseudouridine methyltransferase' SubClassOf 'gene' - 'EMG1 N1-specific pseudouridine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bowen-Conradi syndrome' + 'EMG1 N1-specific pseudouridine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'EMG1 N1-specific pseudouridine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EMG1 N1-specific pseudouridine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bowen-Conradi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_29822 Label: Spontaneous periodic hypothermia - 'Spontaneous periodic hypothermia' SubClassOf 'disease' - 'Spontaneous periodic hypothermia' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Spontaneous periodic hypothermia' SubClassOf 'has_prevalence' some 'Unknown' - 'Spontaneous periodic hypothermia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Spontaneous periodic hypothermia' SubClassOf 'disease' + 'Spontaneous periodic hypothermia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spontaneous periodic hypothermia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spontaneous periodic hypothermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Spontaneous periodic hypothermia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_171829 Label: 6q16 deletion syndrome - '6q16 deletion syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - '6q16 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 6' - '6q16 deletion syndrome' SubClassOf 'malformation syndrome' - '6q16 deletion syndrome' SubClassOf 'part_of' some 'Prader-Willi-like syndrome' - '6q16 deletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '6q16 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 6' + '6q16 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '6q16 deletion syndrome' SubClassOf 'malformation syndrome' + '6q16 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi-like syndrome' + '6q16 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_101092 Label: Hyper-IgM syndrome type 5 - 'Hyper-IgM syndrome type 5' SubClassOf 'clinical subtype' - 'Hyper-IgM syndrome type 5' SubClassOf 'part_of' some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' + 'Hyper-IgM syndrome type 5' SubClassOf 'clinical subtype' + 'Hyper-IgM syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_86797 Label: Atypical lichen myxedematosus - 'Atypical lichen myxedematosus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical lichen myxedematosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Atypical lichen myxedematosus' SubClassOf 'part_of' some 'Lichen myxedematosus' - 'Atypical lichen myxedematosus' SubClassOf 'disease' + 'Atypical lichen myxedematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Atypical lichen myxedematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Atypical lichen myxedematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atypical lichen myxedematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lichen myxedematosus' + 'Atypical lichen myxedematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121693 Label: Fanconi anemia, complementation group A - 'Fanconi anemia, complementation group A' SubClassOf 'gene' - 'Fanconi anemia, complementation group A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_316341 Label: HYDIN, axonemal central pair apparatus protein - 'HYDIN, axonemal central pair apparatus protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'HYDIN, axonemal central pair apparatus protein' SubClassOf 'gene' + 'HYDIN, axonemal central pair apparatus protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'HYDIN, axonemal central pair apparatus protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HYDIN, axonemal central pair apparatus protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101090 Label: Hyper-IgM syndrome type 3 - 'Hyper-IgM syndrome type 3' SubClassOf 'part_of' some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' - 'Hyper-IgM syndrome type 3' SubClassOf 'clinical subtype' + 'Hyper-IgM syndrome type 3' SubClassOf 'clinical subtype' + 'Hyper-IgM syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_86795 Label: Localized lichen myxedematosus - 'Localized lichen myxedematosus' SubClassOf 'group of disorders' + 'Localized lichen myxedematosus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101091 Label: Hyper-IgM syndrome type 4 - 'Hyper-IgM syndrome type 4' SubClassOf 'clinical subtype' - 'Hyper-IgM syndrome type 4' SubClassOf 'part_of' some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' + 'Hyper-IgM syndrome type 4' SubClassOf 'clinical subtype' + 'Hyper-IgM syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_28378 Label: Tyrosinemia type 2 - 'Tyrosinemia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tyrosinemia type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tyrosinemia type 2' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Tyrosinemia type 2' SubClassOf 'part_of' some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' - 'Tyrosinemia type 2' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Tyrosinemia type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tyrosinemia type 2' SubClassOf 'disease' - 'Tyrosinemia type 2' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' + 'Tyrosinemia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tyrosinemia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'Tyrosinemia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Tyrosinemia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tyrosinemia type 2' SubClassOf 'disease' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' Class: http://www.orpha.net/ORDO/Orphanet_199257 Label: Superficial fibromatosis - 'Superficial fibromatosis' SubClassOf 'group of disorders' + 'Superficial fibromatosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_275813 Label: Pulmonary arterial hypertension associated with portal hypertension - 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201526 Label: coenzyme Q9 - 'coenzyme Q9' SubClassOf 'gene' - 'coenzyme Q9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' + 'coenzyme Q9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'coenzyme Q9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coenzyme Q9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_101097 Label: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'disease' - 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' - 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'disease' + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_101096 Label: Aregenerative anemia - 'Aregenerative anemia' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Aregenerative anemia' SubClassOf 'disease' + 'Aregenerative anemia' SubClassOf 'disease' + 'Aregenerative anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_119821 Label: atlastin GTPase 1 - 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' - 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 3' - 'atlastin GTPase 1' SubClassOf 'gene' + 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'atlastin GTPase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'atlastin GTPase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 3' Class: http://www.orpha.net/ORDO/Orphanet_86788 Label: X-linked severe congenital neutropenia - 'X-linked severe congenital neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked severe congenital neutropenia' SubClassOf 'part_of' some 'Severe congenital neutropenia' - 'X-linked severe congenital neutropenia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked severe congenital neutropenia' SubClassOf 'disease' + 'X-linked severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe congenital neutropenia' + 'X-linked severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked severe congenital neutropenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86789 Label: Patella aplasia/hypoplasia - 'Patella aplasia/hypoplasia' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Patella aplasia/hypoplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Patella aplasia/hypoplasia' SubClassOf 'part_of' some 'Non-syndromic limb malformation' - 'Patella aplasia/hypoplasia' SubClassOf 'morphological anomaly' - 'Patella aplasia/hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Patella aplasia/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Patella aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb malformation' + 'Patella aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Patella aplasia/hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patella aplasia/hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Patella aplasia/hypoplasia' SubClassOf 'morphological anomaly' + 'Patella aplasia/hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_201522 Label: interferon-related developmental regulator 1 - 'interferon-related developmental regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 18' - 'interferon-related developmental regulator 1' SubClassOf 'gene' + 'interferon-related developmental regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon-related developmental regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'interferon-related developmental regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 18' Class: http://www.orpha.net/ORDO/Orphanet_140526 Label: Leber congenital amaurosis 5 - 'Leber congenital amaurosis 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'Leber congenital amaurosis 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' - 'Leber congenital amaurosis 5' SubClassOf 'gene' + 'Leber congenital amaurosis 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'Leber congenital amaurosis 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14"^^http://www.w3.org/2001/XMLSchema#string + 'Leber congenital amaurosis 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'Leber congenital amaurosis 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163665 Label: Spondyloepiphyseal dysplasia tarda, Kohn type - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119829 Label: spastic paraplegia 7 (pure and complicated autosomal recessive) - 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf 'gene' - 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 7' - 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy and peripheral neuropathy' + 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 7' + 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy and peripheral neuropathy' + 'spastic paraplegia 7 (pure and complicated autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163662 Label: Spondyloepiphyseal dysplasia, Reardon type - 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_199251 Label: Ledderhose disease - 'Ledderhose disease' SubClassOf 'part_of' some 'Superficial fibromatosis' - 'Ledderhose disease' SubClassOf 'disease' - 'Ledderhose disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ledderhose disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial fibromatosis' + 'Ledderhose disease' SubClassOf 'disease' + 'Ledderhose disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_163649 Label: Spondyloepiphyseal dysplasia, Nishimura type - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_171839 Label: Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis - 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'malformation syndrome' - 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' + 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'malformation syndrome' + 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_171836 Label: Amelogenesis imperfecta and gingival hyperplasia syndrome - 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'disease' - 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'disease' + 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_169110 Label: Immunoglobulin heavy chain deficiency - 'Immunoglobulin heavy chain deficiency' SubClassOf 'disease' - 'Immunoglobulin heavy chain deficiency' SubClassOf 'part_of' some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' + 'Immunoglobulin heavy chain deficiency' SubClassOf 'disease' + 'Immunoglobulin heavy chain deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_133452 Label: survival of motor neuron 1, telomeric - 'survival of motor neuron 1, telomeric' SubClassOf 'gene' - 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 4' - 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' - 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' - 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' + 'survival of motor neuron 1, telomeric' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 4' + 'survival of motor neuron 1, telomeric' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' + 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' + 'survival of motor neuron 1, telomeric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' Class: http://www.orpha.net/ORDO/Orphanet_199267 Label: Infantile digital fibromatosis - 'Infantile digital fibromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile digital fibromatosis' SubClassOf 'part_of' some 'Superficial fibromatosis' - 'Infantile digital fibromatosis' SubClassOf 'disease' - 'Infantile digital fibromatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile digital fibromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile digital fibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile digital fibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile digital fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial fibromatosis' + 'Infantile digital fibromatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_275823 Label: Pulmonary arterial hypertension associated with schistosomiasis - 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201538 Label: tubulin, beta 2B class IIb - 'tubulin, beta 2B class IIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria due to TUBB2B mutation' - 'tubulin, beta 2B class IIb' SubClassOf 'gene' - 'tubulin, beta 2B class IIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' + 'tubulin, beta 2B class IIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.2"^^http://www.w3.org/2001/XMLSchema#string + 'tubulin, beta 2B class IIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria due to TUBB2B mutation' + 'tubulin, beta 2B class IIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' + 'tubulin, beta 2B class IIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_275828 Label: Pulmonary arterial hypertension associated with chronic hemolytic anemia - 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119811 Label: spastic paraplegia 20 (Troyer syndrome) - 'spastic paraplegia 20 (Troyer syndrome)' SubClassOf 'gene' - 'spastic paraplegia 20 (Troyer syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 20' + 'spastic paraplegia 20 (Troyer syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 20' + 'spastic paraplegia 20 (Troyer syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spastic paraplegia 20 (Troyer syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371601 Label: TBC1 domain family, member 7 - 'TBC1 domain family, member 7' SubClassOf 'gene' - 'TBC1 domain family, member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated megalencephaly' + 'TBC1 domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TBC1 domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p23"^^http://www.w3.org/2001/XMLSchema#string + 'TBC1 domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated megalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_163654 Label: Spondyloepiphyseal dysplasia, Cantu type - 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_119815 Label: spastic paraplegia 21 (autosomal recessive, Mast syndrome) - 'spastic paraplegia 21 (autosomal recessive, Mast syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 21' - 'spastic paraplegia 21 (autosomal recessive, Mast syndrome)' SubClassOf 'gene' + 'spastic paraplegia 21 (autosomal recessive, Mast syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 21' + 'spastic paraplegia 21 (autosomal recessive, Mast syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spastic paraplegia 21 (autosomal recessive, Mast syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140514 Label: mitochondrially encoded tRNA glutamic acid - 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'gene' - 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathy and diabetes mellitus' - 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' - 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' + 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' + 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathy and diabetes mellitus' + 'mitochondrially encoded tRNA glutamic acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA glutamic acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA glutamic acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_199260 Label: Calcified aponeurotic fibroma - 'Calcified aponeurotic fibroma' SubClassOf 'disease' - 'Calcified aponeurotic fibroma' SubClassOf 'part_of' some 'Superficial fibromatosis' + 'Calcified aponeurotic fibroma' SubClassOf 'disease' + 'Calcified aponeurotic fibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial fibromatosis' Class: http://www.orpha.net/ORDO/Orphanet_201531 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 3' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_394899 Label: neuroblastoma amplified sequence - 'neuroblastoma amplified sequence' SubClassOf 'gene' - 'neuroblastoma amplified sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' + 'neuroblastoma amplified sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' + 'neuroblastoma amplified sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neuroblastoma amplified sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_331681 Label: HECT and RLD domain containing E3 ubiquitin protein ligase 2 - 'HECT and RLD domain containing E3 ubiquitin protein ligase 2' SubClassOf 'gene' - 'HECT and RLD domain containing E3 ubiquitin protein ligase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental delay with autism spectrum disorder and gait instability' + 'HECT and RLD domain containing E3 ubiquitin protein ligase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Developmental delay with autism spectrum disorder and gait instability' + 'HECT and RLD domain containing E3 ubiquitin protein ligase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13"^^http://www.w3.org/2001/XMLSchema#string + 'HECT and RLD domain containing E3 ubiquitin protein ligase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_167889 Label: pleckstrin homology domain containing, family G (with RhoGef domain) member 5 - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lower motor neuron disease with childhood onset' - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf 'gene' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lower motor neuron disease with childhood onset' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_370114 Label: Combined cervical dystonia - 'Combined cervical dystonia' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Combined cervical dystonia' SubClassOf 'disease' + 'Combined cervical dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Combined cervical dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88991 Label: Congenital heart malformation - 'Congenital heart malformation' SubClassOf 'group of disorders' + 'Congenital heart malformation' SubClassOf 'group of disorders' + 'Congenital heart malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital heart malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "223.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_121671 Label: coagulation factor II (thrombin) - 'coagulation factor II (thrombin)' SubClassOf 'gene' - 'coagulation factor II (thrombin)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' - 'coagulation factor II (thrombin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor II deficiency' + 'coagulation factor II (thrombin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor II (thrombin)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' + 'coagulation factor II (thrombin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor II deficiency' + 'coagulation factor II (thrombin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_167883 Label: DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked - 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked' SubClassOf 'gene' - 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11"^^http://www.w3.org/2001/XMLSchema#string + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88993 Label: Esophageal malformation - 'Esophageal malformation' SubClassOf 'group of disorders' + 'Esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_167886 Label: period circadian clock 2 - 'period circadian clock 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' - 'period circadian clock 2' SubClassOf 'gene' + 'period circadian clock 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'period circadian clock 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' + 'period circadian clock 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121675 Label: coagulation factor VII (serum prothrombin conversion accelerator) - 'coagulation factor VII (serum prothrombin conversion accelerator)' SubClassOf 'gene' - 'coagulation factor VII (serum prothrombin conversion accelerator)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor VII deficiency' + 'coagulation factor VII (serum prothrombin conversion accelerator)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor VII (serum prothrombin conversion accelerator)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor VII deficiency' + 'coagulation factor VII (serum prothrombin conversion accelerator)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121673 Label: coagulation factor V (proaccelerin, labile factor) - 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'East Texas bleeding disorder' - 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' - 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor V deficiency' - 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome' - 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'gene' + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor V deficiency' + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'East Texas bleeding disorder' + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23"^^http://www.w3.org/2001/XMLSchema#string + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209943 Label: IRVAN syndrome - 'IRVAN syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'IRVAN syndrome' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'IRVAN syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'IRVAN syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'IRVAN syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'IRVAN syndrome' SubClassOf 'disease' + 'IRVAN syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'IRVAN syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'IRVAN syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'IRVAN syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121677 Label: coagulation factor VIII, procoagulant component - 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderately severe hemophilia A' - 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of hemophilia A in female carriers' - 'coagulation factor VIII, procoagulant component' SubClassOf 'gene' - 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hemophilia A' - 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe hemophilia A' + 'coagulation factor VIII, procoagulant component' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of hemophilia A in female carriers' + 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderately severe hemophilia A' + 'coagulation factor VIII, procoagulant component' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hemophilia A' + 'coagulation factor VIII, procoagulant component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe hemophilia A' Class: http://www.orpha.net/ORDO/Orphanet_357001 Label: 19p13.13 microdeletion syndrome - '19p13.13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '19p13.13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '19p13.13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 19' - '19p13.13 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '19p13.13 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '19p13.13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '19p13.13 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '19p13.13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 19' + '19p13.13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '19p13.13 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '19p13.13 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119807 Label: spastic paraplegia 11 (autosomal recessive) - 'spastic paraplegia 11 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'spastic paraplegia 11 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 11' - 'spastic paraplegia 11 (autosomal recessive)' SubClassOf 'gene' + 'spastic paraplegia 11 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spastic paraplegia 11 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'spastic paraplegia 11 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 11' + 'spastic paraplegia 11 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13-q15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_370106 Label: Rare disorder with dystonia and other neurologic or systemic manifestation - 'Rare disorder with dystonia and other neurologic or systemic manifestation' SubClassOf 'group of disorders' + 'Rare disorder with dystonia and other neurologic or systemic manifestation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201502 Label: paired-like homeodomain 1 - 'paired-like homeodomain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly - elbow wrist dysplasia' - 'paired-like homeodomain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial clubfoot due to PITX1 point mutation' - 'paired-like homeodomain 1' SubClassOf 'gene' - 'paired-like homeodomain 1' SubClassOf 'Role in the phenotype of' some 'Familial clubfoot due to 5q31 microdeletion' + 'paired-like homeodomain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly - elbow wrist dysplasia' + 'paired-like homeodomain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial clubfoot due to PITX1 point mutation' + 'paired-like homeodomain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeodomain 1' SubClassOf 'Role in the phenotype of' some 'Familial clubfoot due to 5q31 microdeletion' + 'paired-like homeodomain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357008 Label: Atypical hemolytic-uremic syndrome with DGKE deficiency - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119801 Label: spastin - 'spastin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 4' - 'spastin' SubClassOf 'gene' + 'spastin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24-p21"^^http://www.w3.org/2001/XMLSchema#string + 'spastin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 4' + 'spastin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352217 Label: phosphoinositide-3-kinase, regulatory subunit 1 (alpha) - 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf 'gene' - 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'SHORT syndrome' + 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Activated PIK3-delta syndrome' + 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoinositide-3-kinase, regulatory subunit 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'SHORT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370109 Label: Ataxia-telangiectasia variant - 'Ataxia-telangiectasia variant' SubClassOf 'disease' - 'Ataxia-telangiectasia variant' SubClassOf 'part_of' some 'Persistent combined dystonia' + 'Ataxia-telangiectasia variant' SubClassOf 'disease' + 'Ataxia-telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_167879 Label: phosphoglycerate mutase 2 (muscle) - 'phosphoglycerate mutase 2 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate mutase deficiency' - 'phosphoglycerate mutase 2 (muscle)' SubClassOf 'gene' + 'phosphoglycerate mutase 2 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglycerate mutase 2 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13-p12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglycerate mutase 2 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate mutase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_201507 Label: succinate dehydrogenase complex assembly factor 1 - 'succinate dehydrogenase complex assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' - 'succinate dehydrogenase complex assembly factor 1' SubClassOf 'gene' + 'succinate dehydrogenase complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinate dehydrogenase complex assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' + 'succinate dehydrogenase complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_201509 Label: KIT ligand - 'KIT ligand' SubClassOf 'gene' - 'KIT ligand' SubClassOf 'Major susceptibility factor in' some 'Testicular non seminomatous germ cell tumor' - 'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive hyperpigmentation' - 'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive hyper- and hypopigmentation' + 'KIT ligand' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22"^^http://www.w3.org/2001/XMLSchema#string + 'KIT ligand' SubClassOf 'Major susceptibility factor in' some 'Testicular non seminomatous germ cell tumor' + 'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive hyperpigmentation' + 'KIT ligand' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive hyper- and hypopigmentation' Class: http://www.orpha.net/ORDO/Orphanet_167875 Label: toll-like receptor 3 - 'toll-like receptor 3' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' - 'toll-like receptor 3' SubClassOf 'gene' + 'toll-like receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'toll-like receptor 3' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' + 'toll-like receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209959 Label: Phacoanaphylactic uveitis - 'Phacoanaphylactic uveitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Phacoanaphylactic uveitis' SubClassOf 'part_of' some 'Non-infectious anterior uveitis' - 'Phacoanaphylactic uveitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Phacoanaphylactic uveitis' SubClassOf 'disease' - 'Phacoanaphylactic uveitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Phacoanaphylactic uveitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Phacoanaphylactic uveitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious anterior uveitis' + 'Phacoanaphylactic uveitis' SubClassOf 'disease' + 'Phacoanaphylactic uveitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_370103 Label: Primary dystonia, DYT17 type - 'Primary dystonia, DYT17 type' SubClassOf 'disease' - 'Primary dystonia, DYT17 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Primary dystonia, DYT17 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Primary dystonia, DYT17 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121683 Label: coagulation factor IX - 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe hemophilia B' - 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderately severe hemophilia B' - 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hemophilia B' - 'coagulation factor IX' SubClassOf 'gene' - 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of hemophilia B in female carriers' + 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe hemophilia B' + 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderately severe hemophilia B' + 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hemophilia B' + 'coagulation factor IX' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor IX' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of hemophilia B in female carriers' + 'coagulation factor IX' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.3-q27.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_167870 Label: glypican 4 - 'glypican 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome' - 'glypican 4' SubClassOf 'gene' + 'glypican 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glypican 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Simpson-Golabi-Behmel syndrome' + 'glypican 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308262 Label: dynactin 4 (p62) - 'dynactin 4 (p62)' SubClassOf 'gene' - 'dynactin 4 (p62)' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' + 'dynactin 4 (p62)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynactin 4 (p62)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'dynactin 4 (p62)' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_121686 Label: fumarylacetoacetate hydrolase (fumarylacetoacetase) - 'fumarylacetoacetate hydrolase (fumarylacetoacetase)' SubClassOf 'gene' - 'fumarylacetoacetate hydrolase (fumarylacetoacetase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 1' + 'fumarylacetoacetate hydrolase (fumarylacetoacetase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 1' + 'fumarylacetoacetate hydrolase (fumarylacetoacetase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'fumarylacetoacetate hydrolase (fumarylacetoacetase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_209956 Label: Idiopathic uveal effusion syndrome - 'Idiopathic uveal effusion syndrome' SubClassOf 'disease' - 'Idiopathic uveal effusion syndrome' SubClassOf 'part_of' some 'Panuveitis' - 'Idiopathic uveal effusion syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic uveal effusion syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Idiopathic uveal effusion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Panuveitis' + 'Idiopathic uveal effusion syndrome' SubClassOf 'disease' + 'Idiopathic uveal effusion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic uveal effusion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_121688 Label: family with sequence similarity 126, member A - 'family with sequence similarity 126, member A' SubClassOf 'gene' - 'family with sequence similarity 126, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - congenital cataract' + 'family with sequence similarity 126, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - congenital cataract' + 'family with sequence similarity 126, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 126, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209951 Label: Autosomal recessive spastic paraplegia type 18 - 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive spastic paraplegia type 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_331676 Label: dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit - 'dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' - 'dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit' SubClassOf 'gene' + 'dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' + 'dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string + 'dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139899 Label: dystonia 7, torsion (autosomal dominant) - 'dystonia 7, torsion (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant focal dystonia, DYT7 type' - 'dystonia 7, torsion (autosomal dominant)' SubClassOf 'gene' + 'dystonia 7, torsion (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant focal dystonia, DYT7 type' + 'dystonia 7, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 7, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_199241 Label: Pulmonary capillary hemangiomatosis - 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'disease' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'part_of' some 'Pulmonary arterial hypertension' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'disease' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pulmonary capillary hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary arterial hypertension' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pulmonary capillary hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_353298 Label: Roifman syndrome - 'Roifman syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Roifman syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Roifman syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Roifman syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Roifman syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Roifman syndrome' SubClassOf 'disease' - 'Roifman syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Roifman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Roifman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Roifman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Roifman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Roifman syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_316377 Label: calcium binding protein 2 - 'calcium binding protein 2' SubClassOf 'gene' - 'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'calcium binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'calcium binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_199244 Label: Nelson syndrome - 'Nelson syndrome' SubClassOf 'part_of' some 'Functioning pituitary adenoma' - 'Nelson syndrome' SubClassOf 'disease' + 'Nelson syndrome' SubClassOf 'disease' + 'Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_199247 Label: Corticosteroid-binding globulin deficiency - 'Corticosteroid-binding globulin deficiency' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Corticosteroid-binding globulin deficiency' SubClassOf 'disease' - 'Corticosteroid-binding globulin deficiency' SubClassOf 'part_of' some 'Rare adrenal disease' - 'Corticosteroid-binding globulin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Corticosteroid-binding globulin deficiency' SubClassOf 'disease' + 'Corticosteroid-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Corticosteroid-binding globulin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corticosteroid-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_201516 Label: ADAM metallopeptidase domain 9 - 'ADAM metallopeptidase domain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'ADAM metallopeptidase domain 9' SubClassOf 'gene' + 'ADAM metallopeptidase domain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'ADAM metallopeptidase domain 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase domain 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250984 Label: Autosomal recessive Stickler syndrome - 'Autosomal recessive Stickler syndrome' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' - 'Autosomal recessive Stickler syndrome' SubClassOf 'part_of' some 'Stickler syndrome' - 'Autosomal recessive Stickler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Stickler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive Stickler syndrome' SubClassOf 'clinical subtype' + 'Autosomal recessive Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive Stickler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Stickler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Autosomal recessive Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stickler syndrome' + 'Autosomal recessive Stickler syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_264656 Label: Interstitial lung disease specific to childhood - 'Interstitial lung disease specific to childhood' SubClassOf 'group of disorders' + 'Interstitial lung disease specific to childhood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370131 Label: White platelet syndrome - 'White platelet syndrome' SubClassOf 'disease' - 'White platelet syndrome' SubClassOf 'part_of' some 'Alpha granule disease' - 'White platelet syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'White platelet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'White platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha granule disease' + 'White platelet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'White platelet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'White platelet syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121654 Label: EYA transcriptional coactivator and phosphatase 4 - 'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensorineural deafness with dilated cardiomyopathy' - 'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'gene' + 'EYA transcriptional coactivator and phosphatase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23"^^http://www.w3.org/2001/XMLSchema#string + 'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensorineural deafness with dilated cardiomyopathy' + 'EYA transcriptional coactivator and phosphatase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121651 Label: EYA transcriptional coactivator and phosphatase 1 - 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' - 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'gene' - 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-otic syndrome' - 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-otic syndrome' + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_358598 Label: PR domain containing 16 - 'PR domain containing 16' SubClassOf 'gene' - 'PR domain containing 16' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' - 'PR domain containing 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'PR domain containing 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' + 'PR domain containing 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PR domain containing 16' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' + 'PR domain containing 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.23-p33"^^http://www.w3.org/2001/XMLSchema#string + 'PR domain containing 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'PR domain containing 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_293284 Label: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'clinical subtype' - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phenylketonuria' + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'clinical subtype' + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121648 Label: exostosin glycosyltransferase 2 - 'exostosin glycosyltransferase 2' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' - 'exostosin glycosyltransferase 2' SubClassOf 'gene' - 'exostosin glycosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple osteochondromas' + 'exostosin glycosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Multiple osteochondromas' + 'exostosin glycosyltransferase 2' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' + 'exostosin glycosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p12-p11"^^http://www.w3.org/2001/XMLSchema#string + 'exostosin glycosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352239 Label: CCR4-NOT transcription complex, subunit 3 - 'CCR4-NOT transcription complex, subunit 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'CCR4-NOT transcription complex, subunit 3' SubClassOf 'gene' + 'CCR4-NOT transcription complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'CCR4-NOT transcription complex, subunit 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'CCR4-NOT transcription complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250977 Label: AICA-ribosiduria - 'AICA-ribosiduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'AICA-ribosiduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'AICA-ribosiduria' SubClassOf 'disease' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'AICA-ribosiduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'AICA-ribosiduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'AICA-ribosiduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'AICA-ribosiduria' SubClassOf 'disease' + 'AICA-ribosiduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'AICA-ribosiduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_370127 Label: Medich giant platelet syndrome - 'Medich giant platelet syndrome' SubClassOf 'disease' - 'Medich giant platelet syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Medich giant platelet syndrome' SubClassOf 'part_of' some 'Alpha granule disease' - 'Medich giant platelet syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Medich giant platelet syndrome' SubClassOf 'disease' + 'Medich giant platelet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Medich giant platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha granule disease' + 'Medich giant platelet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Medich giant platelet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_167897 Label: syntaxin 16 - 'syntaxin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' - 'syntaxin 16' SubClassOf 'gene' + 'syntaxin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' + 'syntaxin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'syntaxin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121660 Label: coagulation factor XI - 'coagulation factor XI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XI deficiency' - 'coagulation factor XI' SubClassOf 'gene' + 'coagulation factor XI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XI deficiency' + 'coagulation factor XI' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor XI' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_285089 Label: peroxidasin homolog (Drosophila) - 'peroxidasin homolog (Drosophila)' SubClassOf 'gene' - 'peroxidasin homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract microcornea with corneal opacity' + 'peroxidasin homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital cataract microcornea with corneal opacity' + 'peroxidasin homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxidasin homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_250972 Label: Polymicrogyria with optic nerve hypoplasia - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Syndromic optic nerve hypoplasia' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'malformation syndrome' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'malformation syndrome' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic optic nerve hypoplasia' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_264665 Label: Primary interstitial lung disease specific to childhood - 'Primary interstitial lung disease specific to childhood' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to childhood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331692 Label: calpain 5 - 'calpain 5' SubClassOf 'gene' - 'calpain 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant neovascular inflammatory vitreoretinopathy' + 'calpain 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calpain 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14"^^http://www.w3.org/2001/XMLSchema#string + 'calpain 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant neovascular inflammatory vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_264663 Label: cholinergic receptor, nicotinic, alpha 7 (neuronal) - 'cholinergic receptor, nicotinic, alpha 7 (neuronal)' SubClassOf 'Role in the phenotype of' some '15q13.3 microdeletion syndrome' - 'cholinergic receptor, nicotinic, alpha 7 (neuronal)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, alpha 7 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, alpha 7 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, alpha 7 (neuronal)' SubClassOf 'Role in the phenotype of' some '15q13.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121665 Label: coagulation factor XIII, A1 polypeptide - 'coagulation factor XIII, A1 polypeptide' SubClassOf 'gene' - 'coagulation factor XIII, A1 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XIII deficiency' + 'coagulation factor XIII, A1 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.2-p23"^^http://www.w3.org/2001/XMLSchema#string + 'coagulation factor XIII, A1 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor XIII, A1 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XIII deficiency' Class: http://www.orpha.net/ORDO/Orphanet_331697 Label: phosphofurin acidic cluster sorting protein 1 - 'phosphofurin acidic cluster sorting protein 1' SubClassOf 'gene' - 'phosphofurin acidic cluster sorting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' + 'phosphofurin acidic cluster sorting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphofurin acidic cluster sorting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphofurin acidic cluster sorting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' Class: http://www.orpha.net/ORDO/Orphanet_121668 Label: coagulation factor XIII, B polypeptide - 'coagulation factor XIII, B polypeptide' SubClassOf 'gene' - 'coagulation factor XIII, B polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XIII deficiency' + 'coagulation factor XIII, B polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor XIII, B polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'coagulation factor XIII, B polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XIII deficiency' Class: http://www.orpha.net/ORDO/Orphanet_285081 Label: vacuolar protein sorting 35 homolog (S. cerevisiae) - 'vacuolar protein sorting 35 homolog (S. cerevisiae)' SubClassOf 'gene' - 'vacuolar protein sorting 35 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'vacuolar protein sorting 35 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 35 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 35 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_209932 Label: Cone dystrophy with supernormal rod response - 'Cone dystrophy with supernormal rod response' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cone dystrophy with supernormal rod response' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Cone dystrophy with supernormal rod response' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cone dystrophy with supernormal rod response' SubClassOf 'disease' - 'Cone dystrophy with supernormal rod response' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Cone dystrophy with supernormal rod response' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cone dystrophy with supernormal rod response' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cone dystrophy with supernormal rod response' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Cone dystrophy with supernormal rod response' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cone dystrophy with supernormal rod response' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_167892 Label: cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) - 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf 'gene' - 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_121663 Label: coagulation factor XII (Hageman factor) - 'coagulation factor XII (Hageman factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XII deficiency' - 'coagulation factor XII (Hageman factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 3' - 'coagulation factor XII (Hageman factor)' SubClassOf 'gene' + 'coagulation factor XII (Hageman factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor XII deficiency' + 'coagulation factor XII (Hageman factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coagulation factor XII (Hageman factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary angioedema type 3' + 'coagulation factor XII (Hageman factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121658 Label: coagulation factor X - 'coagulation factor X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor X deficiency' - 'coagulation factor X' SubClassOf 'gene' + 'coagulation factor X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital factor X deficiency' + 'coagulation factor X' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'coagulation factor X' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293293 Label: cyclin-dependent kinase inhibitor 1A (p21, Cip1) - 'cyclin-dependent kinase inhibitor 1A (p21, Cip1)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' - 'cyclin-dependent kinase inhibitor 1A (p21, Cip1)' SubClassOf 'gene' + 'cyclin-dependent kinase inhibitor 1A (p21, Cip1)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' + 'cyclin-dependent kinase inhibitor 1A (p21, Cip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 1A (p21, Cip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_436 Label: Hypophosphatasia - 'Hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypophosphatasia' SubClassOf 'malformation syndrome' - 'Hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypophosphatasia' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Hypophosphatasia' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' + 'Hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypophosphatasia' SubClassOf 'malformation syndrome' + 'Hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypophosphatasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_437 Label: Hypophosphatemic rickets - 'Hypophosphatemic rickets' SubClassOf 'group of disorders' + 'Hypophosphatemic rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Hypophosphatemic rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypophosphatemic rickets' SubClassOf 'group of disorders' + 'Hypophosphatemic rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_435 Label: Ito hypomelanosis - 'Ito hypomelanosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ito hypomelanosis' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ito hypomelanosis' SubClassOf 'disease' - 'Ito hypomelanosis' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Ito hypomelanosis' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Ito hypomelanosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ito hypomelanosis' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Ito hypomelanosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ito hypomelanosis' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' - 'Ito hypomelanosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ito hypomelanosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Ito hypomelanosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Ito hypomelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Ito hypomelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ito hypomelanosis' SubClassOf 'disease' + 'Ito hypomelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ito hypomelanosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Ito hypomelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ito hypomelanosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "10.85"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101030 Label: Subependymal nodular heterotopia - 'Subependymal nodular heterotopia' SubClassOf 'part_of' some 'Nodular neuronal heterotopia' - 'Subependymal nodular heterotopia' SubClassOf 'clinical subtype' + 'Subependymal nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nodular neuronal heterotopia' + 'Subependymal nodular heterotopia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_432 Label: Normosmic congenital hypogonadotropic hypogonadism - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'part_of' some 'Isolated congenital hypogonadotropic hypogonadism' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'disease' + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital hypogonadotropic hypogonadism' + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101033 Label: Peters anomaly - cataract - 'Peters anomaly - cataract' SubClassOf 'clinical subtype' - 'Peters anomaly - cataract' SubClassOf 'part_of' some 'Peters anomaly' + 'Peters anomaly - cataract' SubClassOf 'clinical subtype' + 'Peters anomaly - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peters anomaly' Class: http://www.orpha.net/ORDO/Orphanet_430 Label: Hypodermyiasis - 'Hypodermyiasis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypodermyiasis' SubClassOf 'part_of' some 'Subcutaneous myiasis' - 'Hypodermyiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Hypodermyiasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypodermyiasis' SubClassOf 'disease' + 'Hypodermyiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypodermyiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hypodermyiasis' SubClassOf 'disease' + 'Hypodermyiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypodermyiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_357043 Label: Amyotrophic lateral sclerosis type 4 - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Amyotrophic lateral sclerosis type 4' SubClassOf 'disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Amyotrophic lateral sclerosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_258542 Label: kelch repeat and BTB (POZ) domain containing 13 - 'kelch repeat and BTB (POZ) domain containing 13' SubClassOf 'gene' - 'kelch repeat and BTB (POZ) domain containing 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' + 'kelch repeat and BTB (POZ) domain containing 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'kelch repeat and BTB (POZ) domain containing 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' + 'kelch repeat and BTB (POZ) domain containing 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_46135 Label: Primary central nervous system lymphoma - 'Primary central nervous system lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary central nervous system lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Primary central nervous system lymphoma' SubClassOf 'disease' - 'Primary central nervous system lymphoma' SubClassOf 'part_of' some 'Rare nervous system tumor' + 'Primary central nervous system lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nervous system tumor' + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Primary central nervous system lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101039 Label: Female restricted epilepsy with intellectual disability - 'Female restricted epilepsy with intellectual disability' SubClassOf 'disease' - 'Female restricted epilepsy with intellectual disability' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' + 'Female restricted epilepsy with intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Female restricted epilepsy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' + 'Female restricted epilepsy with intellectual disability' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_358571 Label: beta-1,4-N-acetyl-galactosaminyl transferase 1 - 'beta-1,4-N-acetyl-galactosaminyl transferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 26' - 'beta-1,4-N-acetyl-galactosaminyl transferase 1' SubClassOf 'gene' + 'beta-1,4-N-acetyl-galactosaminyl transferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta-1,4-N-acetyl-galactosaminyl transferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'beta-1,4-N-acetyl-galactosaminyl transferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 26' Class: http://www.orpha.net/ORDO/Orphanet_120584 Label: zinc finger E-box binding homeobox 1 - 'zinc finger E-box binding homeobox 1' SubClassOf 'gene' - 'zinc finger E-box binding homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' - 'zinc finger E-box binding homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' + 'zinc finger E-box binding homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' + 'zinc finger E-box binding homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger E-box binding homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger E-box binding homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polymorphous corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_171886 Label: Cylindrical spirals myopathy - 'Cylindrical spirals myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Cylindrical spirals myopathy' SubClassOf 'disease' + 'Cylindrical spirals myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Cylindrical spirals myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_166795 Label: solute carrier family 22 (organic anion/urate transporter), member 12 - 'solute carrier family 22 (organic anion/urate transporter), member 12' SubClassOf 'gene' - 'solute carrier family 22 (organic anion/urate transporter), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary renal hypouricemia' + 'solute carrier family 22 (organic anion/urate transporter), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 22 (organic anion/urate transporter), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 22 (organic anion/urate transporter), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary renal hypouricemia' Class: http://www.orpha.net/ORDO/Orphanet_429 Label: Hypochondroplasia - 'Hypochondroplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Hypochondroplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hypochondroplasia' SubClassOf 'disease' - 'Hypochondroplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypochondroplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypochondroplasia' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' + 'Hypochondroplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypochondroplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypochondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Hypochondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypochondroplasia' SubClassOf 'disease' + 'Hypochondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_428 Label: Autosomal dominant hypocalcemia - 'Autosomal dominant hypocalcemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant hypocalcemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant hypocalcemia' SubClassOf 'clinical subtype' - 'Autosomal dominant hypocalcemia' SubClassOf 'part_of' some 'Familial isolated hypoparathyroidism' - 'Autosomal dominant hypocalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated hypoparathyroidism' + 'Autosomal dominant hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant hypocalcemia' SubClassOf 'clinical subtype' + 'Autosomal dominant hypocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_427 Label: Familial hypoaldosteronism - 'Familial hypoaldosteronism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial hypoaldosteronism' SubClassOf 'part_of' some 'Rare hypoaldosteronism' - 'Familial hypoaldosteronism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial hypoaldosteronism' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Familial hypoaldosteronism' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hypoaldosteronism' SubClassOf 'disease' + 'Familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoaldosteronism' + 'Familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Familial hypoaldosteronism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial hypoaldosteronism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial hypoaldosteronism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_171889 Label: Myopathy with hexagonally cross-linked tubular arrays - 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'disease' - 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'part_of' some 'Congenital myopathy' + 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_423 Label: Malignant hyperthermia - 'Malignant hyperthermia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Malignant hyperthermia' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Malignant hyperthermia' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Malignant hyperthermia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Malignant hyperthermia' SubClassOf 'disease' - 'Malignant hyperthermia' SubClassOf 'has_prevalence' some 'Unknown' + 'Malignant hyperthermia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Malignant hyperthermia' SubClassOf 'disease' + 'Malignant hyperthermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Malignant hyperthermia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Malignant hyperthermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_101042 Label: Taussig-Bing syndrome - 'Taussig-Bing syndrome' SubClassOf 'part_of' some 'Double outlet right ventricle' - 'Taussig-Bing syndrome' SubClassOf 'clinical subtype' + 'Taussig-Bing syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Double outlet right ventricle' + 'Taussig-Bing syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_424 Label: Familial hyperthyroidism due to mutations in TSH receptor - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'part_of' some 'Rare hyperthyroidism' - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'disease' - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'part_of' some 'Genetic hypertension' - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'disease' + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_101041 Label: Familial hypofibrinogenemia - 'Familial hypofibrinogenemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hypofibrinogenemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hypofibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial hypofibrinogenemia' SubClassOf 'clinical subtype' - 'Familial hypofibrinogenemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial hypofibrinogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypofibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial hypofibrinogenemia' SubClassOf 'clinical subtype' + 'Familial hypofibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_425 Label: Apolipoprotein A-I deficiency - 'Apolipoprotein A-I deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Apolipoprotein A-I deficiency' SubClassOf 'disease' - 'Apolipoprotein A-I deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Apolipoprotein A-I deficiency' SubClassOf 'part_of' some 'Hypoalphalipoproteinemia' - 'Apolipoprotein A-I deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Apolipoprotein A-I deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Apolipoprotein A-I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Apolipoprotein A-I deficiency' SubClassOf 'disease' + 'Apolipoprotein A-I deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Apolipoprotein A-I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_101046 Label: Autosomal dominant epilepsy with auditory features - 'Autosomal dominant epilepsy with auditory features' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Autosomal dominant epilepsy with auditory features' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant epilepsy with auditory features' SubClassOf 'disease' + 'Autosomal dominant epilepsy with auditory features' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant epilepsy with auditory features' SubClassOf 'disease' + 'Autosomal dominant epilepsy with auditory features' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_258534 Label: phospholipase C, beta 1 (phosphoinositide-specific) - 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' - 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'gene' - 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' + 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'West syndrome' + 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' Class: http://www.orpha.net/ORDO/Orphanet_422 Label: Idiopathic and/or familial pulmonary arterial hypertension - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'disease' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'part_of' some 'Pulmonary arterial hypertension' + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary arterial hypertension' + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'disease' + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101043 Label: Aortic valve dysplasia - 'Aortic valve dysplasia' SubClassOf 'part_of' some 'Congenital aortic valve stenosis' - 'Aortic valve dysplasia' SubClassOf 'clinical subtype' + 'Aortic valve dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital aortic valve stenosis' + 'Aortic valve dysplasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_258532 Label: methionine sulfoxide reductase B3 - 'methionine sulfoxide reductase B3' SubClassOf 'gene' - 'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'methionine sulfoxide reductase B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'methionine sulfoxide reductase B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357034 Label: Unilateral retinoblastoma - 'Unilateral retinoblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Unilateral retinoblastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Unilateral retinoblastoma' SubClassOf 'part_of' some 'Retinoblastoma' - 'Unilateral retinoblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Unilateral retinoblastoma' SubClassOf 'clinical subtype' + 'Unilateral retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinoblastoma' + 'Unilateral retinoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Unilateral retinoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Unilateral retinoblastoma' SubClassOf 'clinical subtype' + 'Unilateral retinoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Unilateral retinoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.038"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101049 Label: Familial hypocalciuric hypercalcemia type 2 - 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'part_of' some 'Familial hypocalciuric hypercalcemia' - 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'etiological subtype' + 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypocalciuric hypercalcemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypocalciuric hypercalcemia' + 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_358562 Label: kelch-like family member 40 - 'kelch-like family member 40' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' - 'kelch-like family member 40' SubClassOf 'gene' + 'kelch-like family member 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe congenital nemaline myopathy' + 'kelch-like family member 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kelch-like family member 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120598 Label: zinc finger protein, FOG family member 2 - 'zinc finger protein, FOG family member 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'zinc finger protein, FOG family member 2' SubClassOf 'gene' - 'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' + 'zinc finger protein, FOG family member 2' SubClassOf 'Major susceptibility factor in' some 'Congenital diaphragmatic hernia' + 'zinc finger protein, FOG family member 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'zinc finger protein, FOG family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q23"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein, FOG family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171895 Label: Myeloid hemopathy - 'Myeloid hemopathy' SubClassOf 'group of disorders' + 'Myeloid hemopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171898 Label: Lymphoid hemopathy - 'Lymphoid hemopathy' SubClassOf 'group of disorders' + 'Lymphoid hemopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_417 Label: Neonatal severe primary hyperparathyroidism - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'part_of' some 'Rare hyperparathyroidism' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'part_of' some 'Genetic hyperparathyroidism' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_inheritance' some 'sporadic' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Neonatal severe primary hyperparathyroidism' SubClassOf 'disease' + 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperparathyroidism' + 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperparathyroidism' + 'Neonatal severe primary hyperparathyroidism' SubClassOf 'disease' + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Neonatal severe primary hyperparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_416 Label: Primary hyperoxaluria - 'Primary hyperoxaluria' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Primary hyperoxaluria' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary hyperoxaluria' SubClassOf 'disease' - 'Primary hyperoxaluria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary hyperoxaluria' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Primary hyperoxaluria' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Primary hyperoxaluria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hyperoxaluria' SubClassOf 'part_of' some 'Disorder of glyoxylate metabolism' + 'Primary hyperoxaluria' SubClassOf 'disease' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glyoxylate metabolism' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Primary hyperoxaluria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Primary hyperoxaluria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary hyperoxaluria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_419 Label: Hyperprolinemia type 1 - 'Hyperprolinemia type 1' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Hyperprolinemia type 1' SubClassOf 'part_of' some 'Disorder of proline metabolism' - 'Hyperprolinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperprolinemia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperprolinemia type 1' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hyperprolinemia type 1' SubClassOf 'disease' - 'Hyperprolinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperprolinemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of proline metabolism' + 'Hyperprolinemia type 1' SubClassOf 'disease' + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hyperprolinemia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_120593 Label: zinc finger E-box binding homeobox 2 - 'zinc finger E-box binding homeobox 2' SubClassOf 'gene' - 'zinc finger E-box binding homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mowat-Wilson syndrome due to a point mutation' - 'zinc finger E-box binding homeobox 2' SubClassOf 'Role in the phenotype of' some 'Mowat-Wilson syndrome due to monosomy 2q22' + 'zinc finger E-box binding homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mowat-Wilson syndrome due to a point mutation' + 'zinc finger E-box binding homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger E-box binding homeobox 2' SubClassOf 'Role in the phenotype of' some 'Mowat-Wilson syndrome due to monosomy 2q22' + 'zinc finger E-box binding homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_418 Label: Congenital adrenal hyperplasia - 'Congenital adrenal hyperplasia' SubClassOf 'group of disorders' - 'Congenital adrenal hyperplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Congenital adrenal hyperplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410048) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf 'group of disorders' + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf 'has_inheritance' some 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"7.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_285068 Label: eukaryotic translation initiation factor 4 gamma, 1 - 'eukaryotic translation initiation factor 4 gamma, 1' SubClassOf 'gene' - 'eukaryotic translation initiation factor 4 gamma, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'eukaryotic translation initiation factor 4 gamma, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation initiation factor 4 gamma, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 4 gamma, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_454 Label: Acquired ichthyosis - 'Acquired ichthyosis' SubClassOf 'disease' - 'Acquired ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired ichthyosis' SubClassOf 'part_of' some 'Ichthyosis' - 'Acquired ichthyosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired ichthyosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Acquired ichthyosis' SubClassOf 'disease' + 'Acquired ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ichthyosis' + 'Acquired ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_101011 Label: Autosomal dominant spastic paraplegia type 31 - 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant spastic paraplegia type 31' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_455 Label: Superficial epidermolytic ichthyosis - 'Superficial epidermolytic ichthyosis' SubClassOf 'disease' - 'Superficial epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Superficial epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Superficial epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Superficial epidermolytic ichthyosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Superficial epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Superficial epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Superficial epidermolytic ichthyosis' SubClassOf 'disease' + 'Superficial epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Superficial epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Superficial epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_101010 Label: Autosomal recessive spastic paraplegia type 30 - 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 30' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 30' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_452 Label: X-linked lissencephaly with abnormal genitalia - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'malformation syndrome' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'malformation syndrome' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_317476 Label: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia - 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'disease' - 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'disease' + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_358558 Label: RAB28, member RAS oncogene family - 'RAB28, member RAS oncogene family' SubClassOf 'gene' - 'RAB28, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'RAB28, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAB28, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB28, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_457 Label: Harlequin ichthyosis - 'Harlequin ichthyosis' SubClassOf 'disease' - 'Harlequin ichthyosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Harlequin ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Harlequin ichthyosis' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Harlequin ichthyosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Harlequin ichthyosis' SubClassOf 'disease' + 'Harlequin ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Harlequin ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Harlequin ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Harlequin ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Harlequin ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_357027 Label: Familial retinoblastoma - 'Familial retinoblastoma' SubClassOf 'part_of' some 'Retinoblastoma' - 'Familial retinoblastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial retinoblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial retinoblastoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial retinoblastoma' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Familial retinoblastoma' SubClassOf 'clinical subtype' + 'Familial retinoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial retinoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinoblastoma' + 'Familial retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Familial retinoblastoma' SubClassOf 'clinical subtype' + 'Familial retinoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_450 Label: Heterotaxia - 'Heterotaxia' SubClassOf 'group of disorders' - 'Heterotaxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Heterotaxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Heterotaxia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Heterotaxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Heterotaxia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Heterotaxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heterotaxia' SubClassOf 'group of disorders' + 'Heterotaxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Heterotaxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Heterotaxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Heterotaxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Heterotaxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Heterotaxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120558 Label: xanthine dehydrogenase - 'xanthine dehydrogenase' SubClassOf 'gene' - 'xanthine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xanthinuria type I' + 'xanthine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'xanthine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'xanthine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xanthinuria type I' Class: http://www.orpha.net/ORDO/Orphanet_101016 Label: Romano-Ward syndrome - 'Romano-Ward syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Romano-Ward syndrome' SubClassOf 'part_of' some 'Familial long QT syndrome' - 'Romano-Ward syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Romano-Ward syndrome' SubClassOf 'clinical subtype' - 'Romano-Ward syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Romano-Ward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial long QT syndrome' + 'Romano-Ward syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Romano-Ward syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Romano-Ward syndrome' SubClassOf 'clinical subtype' + 'Romano-Ward syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_120567 Label: xeroderma pigmentosum, complementation group A - 'xeroderma pigmentosum, complementation group A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group A' - 'xeroderma pigmentosum, complementation group A' SubClassOf 'gene' + 'xeroderma pigmentosum, complementation group A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'xeroderma pigmentosum, complementation group A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group A' + 'xeroderma pigmentosum, complementation group A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120562 Label: X-linked Kx blood group - 'X-linked Kx blood group' SubClassOf 'gene' - 'X-linked Kx blood group' SubClassOf 'Disease-causing germline mutation(s) in' some 'McLeod neuroacanthocytosis syndrome' + 'X-linked Kx blood group' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.1"^^http://www.w3.org/2001/XMLSchema#string + 'X-linked Kx blood group' SubClassOf 'Disease-causing germline mutation(s) in' some 'McLeod neuroacanthocytosis syndrome' + 'X-linked Kx blood group' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_317473 Label: Pancytopenia due to IKZF1 mutations - 'Pancytopenia due to IKZF1 mutations' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Pancytopenia due to IKZF1 mutations' SubClassOf 'disease' + 'Pancytopenia due to IKZF1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Pancytopenia due to IKZF1 mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_449 Label: Hepatoblastoma - 'Hepatoblastoma' SubClassOf 'part_of' some 'Rare hepatic tumor' - 'Hepatoblastoma' SubClassOf 'disease' - 'Hepatoblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hepatoblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Hepatoblastoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Hepatoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hepatoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hepatoblastoma' SubClassOf 'disease' + 'Hepatoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' + 'Hepatoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hepatoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hepatoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_441 Label: Pure autonomic failure - 'Pure autonomic failure' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pure autonomic failure' SubClassOf 'disease' - 'Pure autonomic failure' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pure autonomic failure' SubClassOf 'part_of' some 'Primary orthostatic hypotension' - 'Pure autonomic failure' SubClassOf 'has_inheritance' some 'sporadic' + 'Pure autonomic failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pure autonomic failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pure autonomic failure' SubClassOf 'disease' + 'Pure autonomic failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pure autonomic failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_101023 Label: Cleft hard palate - 'Cleft hard palate' SubClassOf 'clinical subtype' - 'Cleft hard palate' SubClassOf 'part_of' some 'Cleft palate' + 'Cleft hard palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft palate' + 'Cleft hard palate' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119894 Label: succinate-CoA ligase, ADP-forming, beta subunit - 'succinate-CoA ligase, ADP-forming, beta subunit' SubClassOf 'gene' - 'succinate-CoA ligase, ADP-forming, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' + 'succinate-CoA ligase, ADP-forming, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'succinate-CoA ligase, ADP-forming, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' + 'succinate-CoA ligase, ADP-forming, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_442 Label: Congenital hypothyroidism - 'Congenital hypothyroidism' SubClassOf 'group of disorders' - 'Congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hypothyroidism' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Congenital hypothyroidism' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "55.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "73.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410010) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "37.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410011) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "76.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410010) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "150.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf 'group of disorders' + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "62.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410223) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "63.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "57.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "45.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410114) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "54.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "57.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_101022 Label: Mediterranean macrothrombocytopenia - 'Mediterranean macrothrombocytopenia' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Mediterranean macrothrombocytopenia' SubClassOf 'disease' + 'Mediterranean macrothrombocytopenia' SubClassOf 'disease' + 'Mediterranean macrothrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_444 Label: Marie Unna hereditary hypotrichosis - 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marie Unna hereditary hypotrichosis' SubClassOf 'disease' - 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marie Unna hereditary hypotrichosis' SubClassOf 'part_of' some 'Alopecia' + 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marie Unna hereditary hypotrichosis' SubClassOf 'disease' + 'Marie Unna hereditary hypotrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marie Unna hereditary hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_119896 Label: suppressor of fused homolog (Drosophila) - 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Medulloblastoma with extensive nodularity' - 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Familial multiple meningioma' - 'suppressor of fused homolog (Drosophila)' SubClassOf 'gene' - 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Desmoplastic/nodular medulloblastoma' + 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Medulloblastoma with extensive nodularity' + 'suppressor of fused homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Familial multiple meningioma' + 'suppressor of fused homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'suppressor of fused homolog (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Desmoplastic/nodular medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_357019 Label: protein O-fucosyltransferase 1 - 'protein O-fucosyltransferase 1' SubClassOf 'gene' - 'protein O-fucosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' + 'protein O-fucosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein O-fucosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' + 'protein O-fucosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_446 Label: Neonatal hemochromatosis - 'Neonatal hemochromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neonatal hemochromatosis' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'Neonatal hemochromatosis' SubClassOf 'disease' - 'Neonatal hemochromatosis' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Neonatal hemochromatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal hemochromatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neonatal hemochromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Neonatal hemochromatosis' SubClassOf 'disease' + 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'Neonatal hemochromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal hemochromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_447 Label: Paroxysmal nocturnal hemoglobinuria - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'disease' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'part_of' some 'Rare acquired medullar aplasia' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'part_of' some 'Rare acquired hemolytic anemia' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'part_of' some 'Rare genetic hematologic disease' - 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired hemolytic anemia' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hematologic disease' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'disease' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired medullar aplasia' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119899 Label: sulfatase modifying factor 1 - 'sulfatase modifying factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple sulfatase deficiency' - 'sulfatase modifying factor 1' SubClassOf 'gene' + 'sulfatase modifying factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple sulfatase deficiency' + 'sulfatase modifying factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26.1"^^http://www.w3.org/2001/XMLSchema#string + 'sulfatase modifying factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_448 Label: Hemophilia - 'Hemophilia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemophilia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemophilia' SubClassOf 'group of disorders' - 'Hemophilia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia' SubClassOf 'group of disorders' + 'Hemophilia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemophilia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_101029 Label: Sub-cortical nodular heterotopia - 'Sub-cortical nodular heterotopia' SubClassOf 'clinical subtype' - 'Sub-cortical nodular heterotopia' SubClassOf 'part_of' some 'Nodular neuronal heterotopia' + 'Sub-cortical nodular heterotopia' SubClassOf 'clinical subtype' + 'Sub-cortical nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nodular neuronal heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_101028 Label: Transaldolase deficiency - 'Transaldolase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transaldolase deficiency' SubClassOf 'disease' - 'Transaldolase deficiency' SubClassOf 'part_of' some 'Disorder of pentose phosphate metabolism' - 'Transaldolase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Transaldolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pentose phosphate metabolism' + 'Transaldolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transaldolase deficiency' SubClassOf 'disease' + 'Transaldolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transaldolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_440 Label: Familial hypospadias - 'Familial hypospadias' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial hypospadias' SubClassOf 'morphological anomaly' - 'Familial hypospadias' SubClassOf 'part_of' some 'Genetic urogenital tract malformation' - 'Familial hypospadias' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial hypospadias' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Familial hypospadias' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hypospadias' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hypospadias' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial hypospadias' SubClassOf 'morphological anomaly' + 'Familial hypospadias' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Familial hypospadias' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial hypospadias' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial hypospadias' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypospadias' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_137596 Label: Neurotrophic keratopathy - 'Neurotrophic keratopathy' SubClassOf 'disease' - 'Neurotrophic keratopathy' SubClassOf 'part_of' some 'Herpes simplex virus keratitis' + 'Neurotrophic keratopathy' SubClassOf 'disease' + 'Neurotrophic keratopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Herpes simplex virus keratitis' Class: http://www.orpha.net/ORDO/Orphanet_137599 Label: Stromal keratitis - 'Stromal keratitis' SubClassOf 'disease' - 'Stromal keratitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Stromal keratitis' SubClassOf 'part_of' some 'Herpes simplex virus keratitis' + 'Stromal keratitis' SubClassOf 'disease' + 'Stromal keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Herpes simplex virus keratitis' + 'Stromal keratitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Stromal keratitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120579 Label: zeta-chain (TCR) associated protein kinase 70kDa - 'zeta-chain (TCR) associated protein kinase 70kDa' SubClassOf 'gene' - 'zeta-chain (TCR) associated protein kinase 70kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to ZAP70 deficiency' + 'zeta-chain (TCR) associated protein kinase 70kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11-q13"^^http://www.w3.org/2001/XMLSchema#string + 'zeta-chain (TCR) associated protein kinase 70kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to ZAP70 deficiency' + 'zeta-chain (TCR) associated protein kinase 70kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_331658 Label: RanBP-type and C3HC4-type zinc finger containing 1 - 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyglucosan body myopathy' - 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf 'gene' + 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Polyglucosan body myopathy' + 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137593 Label: Infectious epithelial keratitis - 'Infectious epithelial keratitis' SubClassOf 'part_of' some 'Herpes simplex virus keratitis' - 'Infectious epithelial keratitis' SubClassOf 'disease' + 'Infectious epithelial keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Herpes simplex virus keratitis' + 'Infectious epithelial keratitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_51577 Label: Cobblestone lissencephaly - 'Cobblestone lissencephaly' SubClassOf 'group of disorders' + 'Cobblestone lissencephaly' SubClassOf 'group of disorders' + 'Cobblestone lissencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cobblestone lissencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cobblestone lissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cobblestone lissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_439 Label: Right ventricular hypoplasia - 'Right ventricular hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Right ventricular hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Right ventricular hypoplasia' SubClassOf 'part_of' some 'Hypoplastic right heart syndrome' - 'Right ventricular hypoplasia' SubClassOf 'morphological anomaly' - 'Right ventricular hypoplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Right ventricular hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Right ventricular hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Right ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoplastic right heart syndrome' + 'Right ventricular hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Right ventricular hypoplasia' SubClassOf 'morphological anomaly' + 'Right ventricular hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_120571 Label: xeroderma pigmentosum, complementation group C - 'xeroderma pigmentosum, complementation group C' SubClassOf 'gene' - 'xeroderma pigmentosum, complementation group C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group C' + 'xeroderma pigmentosum, complementation group C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'xeroderma pigmentosum, complementation group C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'xeroderma pigmentosum, complementation group C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group C' Class: http://www.orpha.net/ORDO/Orphanet_119892 Label: syntaxin 11 - 'syntaxin 11' SubClassOf 'gene' - 'syntaxin 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'syntaxin 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'syntaxin 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'syntaxin 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79212 Label: Mucolipidosis - 'Mucolipidosis' SubClassOf 'group of disorders' + 'Mucolipidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_163684 Label: Leukoencephalopathy - dystonia - motor neuropathy - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'disease' - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'part_of' some 'Peroxisomal beta-oxidation disorder' - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'part_of' some 'Leukodystrophy' + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal beta-oxidation disorder' + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'disease' + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_122719 Label: jagged 1 - 'jagged 1' SubClassOf 'Role in the phenotype of' some 'Alagille syndrome due to 20p12 microdeletion' - 'jagged 1' SubClassOf 'gene' - 'jagged 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'jagged 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alagille syndrome due to a JAG1 point mutation' + 'jagged 1' SubClassOf 'Role in the phenotype of' some 'Alagille syndrome due to 20p12 microdeletion' + 'jagged 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'jagged 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'jagged 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alagille syndrome due to a JAG1 point mutation' + 'jagged 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.1-p11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79213 Label: Mucopolysaccharidosis - 'Mucopolysaccharidosis' SubClassOf 'group of disorders' + 'Mucopolysaccharidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79214 Label: Disorder of biogenic amine metabolism and transport - 'Disorder of biogenic amine metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of biogenic amine metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317419 Label: T-B- severe combined immunodeficiency - 'T-B- severe combined immunodeficiency' SubClassOf 'group of disorders' + 'T-B- severe combined immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79215 Label: Oligosaccharidosis - 'Oligosaccharidosis' SubClassOf 'group of disorders' + 'Oligosaccharidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_163681 Label: Cortical dysplasia - focal epilepsy syndrome - 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'disease' - 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'disease' + 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79217 Label: Other metabolic disease with skin involvement - 'Other metabolic disease with skin involvement' SubClassOf 'group of disorders' + 'Other metabolic disease with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79219 Label: Metabolic disease involving other neurotransmitter deficiency - 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'group of disorders' + 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122716 Label: isovaleryl-CoA dehydrogenase - 'isovaleryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isovaleric acidemia' - 'isovaleryl-CoA dehydrogenase' SubClassOf 'gene' + 'isovaleryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isovaleric acidemia' + 'isovaleryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14-q15"^^http://www.w3.org/2001/XMLSchema#string + 'isovaleryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352298 Label: Genetic muscular channelopathy - 'Genetic muscular channelopathy' SubClassOf 'group of disorders' + 'Genetic muscular channelopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317410 Label: POU class 2 associating factor 1 - 'POU class 2 associating factor 1' SubClassOf 'gene' - 'POU class 2 associating factor 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'POU class 2 associating factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POU class 2 associating factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 2 associating factor 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' Class: http://www.orpha.net/ORDO/Orphanet_119888 Label: steroid sulfatase (microsomal), isozyme S - 'steroid sulfatase (microsomal), isozyme S' SubClassOf 'gene' - 'steroid sulfatase (microsomal), isozyme S' SubClassOf 'Role in the phenotype of' some 'Syndromic X-linked ichthyosis' - 'steroid sulfatase (microsomal), isozyme S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive X-linked ichthyosis' + 'steroid sulfatase (microsomal), isozyme S' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.32"^^http://www.w3.org/2001/XMLSchema#string + 'steroid sulfatase (microsomal), isozyme S' SubClassOf 'Role in the phenotype of' some 'Syndromic X-linked ichthyosis' + 'steroid sulfatase (microsomal), isozyme S' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'steroid sulfatase (microsomal), isozyme S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive X-linked ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_101075 Label: X-linked Charcot-Marie-Tooth disease type 1 - 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' - 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_101076 Label: X-linked Charcot-Marie-Tooth disease type 2 - 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' - 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'part_of' some 'X-linked recessive hereditary axonal motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive hereditary axonal motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_101077 Label: X-linked Charcot-Marie-Tooth disease type 3 - 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' - 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'part_of' some 'X-linked recessive hereditary axonal motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_119884 Label: serine/threonine kinase 11 - 'serine/threonine kinase 11' SubClassOf 'gene' - 'serine/threonine kinase 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peutz-Jeghers syndrome' + 'serine/threonine kinase 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine/threonine kinase 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'serine/threonine kinase 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peutz-Jeghers syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101078 Label: X-linked Charcot-Marie-Tooth disease type 4 - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'X-linked recessive hereditary axonal motor and sensory neuropathy' - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive hereditary axonal motor and sensory neuropathy' + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79211 Label: Combined hyperlipidemia - 'Combined hyperlipidemia' SubClassOf 'group of disorders' + 'Combined hyperlipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317416 Label: T-B+ severe combined immunodeficiency - 'T-B+ severe combined immunodeficiency' SubClassOf 'group of disorders' + 'T-B+ severe combined immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_275837 Label: Pulmonary hypertension owing to lung disease and/or hypoxia - 'Pulmonary hypertension owing to lung disease and/or hypoxia' SubClassOf 'group of disorders' + 'Pulmonary hypertension owing to lung disease and/or hypoxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119882 Label: signal transducer and activator of transcription 5B - 'signal transducer and activator of transcription 5B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome with immunodeficiency' - 'signal transducer and activator of transcription 5B' SubClassOf 'gene' - 'signal transducer and activator of transcription 5B' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'signal transducer and activator of transcription 5B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 5B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 5B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome with immunodeficiency' + 'signal transducer and activator of transcription 5B' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_275844 Label: Pulmonary hypertension with unclear multifactorial mechanism - 'Pulmonary hypertension with unclear multifactorial mechanism' SubClassOf 'group of disorders' + 'Pulmonary hypertension with unclear multifactorial mechanism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101071 Label: Unilateral hemispheric polymicrogyria - 'Unilateral hemispheric polymicrogyria' SubClassOf 'clinical subtype' - 'Unilateral hemispheric polymicrogyria' SubClassOf 'part_of' some 'Unilateral polymicrogyria' + 'Unilateral hemispheric polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral polymicrogyria' + 'Unilateral hemispheric polymicrogyria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_101070 Label: Bilateral frontoparietal polymicrogyria - 'Bilateral frontoparietal polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' - 'Bilateral frontoparietal polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral frontoparietal polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral frontoparietal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_171844 Label: Blindness- scoliosis-arachnodactyly syndrome - 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf 'malformation syndrome' - 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf 'part_of' some 'Rare genetic eye disease' + 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf 'malformation syndrome' + 'Blindness- scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic eye disease' Class: http://www.orpha.net/ORDO/Orphanet_137583 Label: Vulvar intraepithelial neoplasia - 'Vulvar intraepithelial neoplasia' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' - 'Vulvar intraepithelial neoplasia' SubClassOf 'disease' + 'Vulvar intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' + 'Vulvar intraepithelial neoplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_171848 Label: Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'disease' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'disease' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with peripheral neuropathy' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_137586 Label: Herpes simplex virus keratitis - 'Herpes simplex virus keratitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Herpes simplex virus keratitis' SubClassOf 'group of disorders' - 'Herpes simplex virus keratitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Herpes simplex virus keratitis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Herpes simplex virus keratitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "31.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Herpes simplex virus keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Herpes simplex virus keratitis' SubClassOf 'group of disorders' + 'Herpes simplex virus keratitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_394877 Label: midline 2 - 'midline 2' SubClassOf 'gene' - 'midline 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'midline 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'midline 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'midline 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79225 Label: Sphingolipidosis - 'Sphingolipidosis' SubClassOf 'group of disorders' + 'Sphingolipidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79226 Label: Sterol metabolism disorder - 'Sterol metabolism disorder' SubClassOf 'group of disorders' + 'Sterol metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_402371 Label: epidermal growth factor receptor pathway substrate 8 - 'epidermal growth factor receptor pathway substrate 8' SubClassOf 'gene' - 'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'epidermal growth factor receptor pathway substrate 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'epidermal growth factor receptor pathway substrate 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'epidermal growth factor receptor pathway substrate 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_317428 Label: Combined immunodeficiency due to ORAI1 deficiency - 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'clinical subtype' - 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency due to CRAC channel dysfunction' - 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'clinical subtype' + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined immunodeficiency due to CRAC channel dysfunction' + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79224 Label: Disorder of purine or pyrimidine metabolism - 'Disorder of purine or pyrimidine metabolism' SubClassOf 'group of disorders' + 'Disorder of purine or pyrimidine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122729 Label: Janus kinase 3 - 'Janus kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' - 'Janus kinase 3' SubClassOf 'gene' + 'Janus kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Janus kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' + 'Janus kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122727 Label: Janus kinase 2 - 'Janus kinase 2' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome' - 'Janus kinase 2' SubClassOf 'gene' - 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' - 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' - 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' - 'Janus kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombocytosis' + 'Janus kinase 2' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome' + 'Janus kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24"^^http://www.w3.org/2001/XMLSchema#string + 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' + 'Janus kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'Janus kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial thrombocytosis' + 'Janus kinase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polycythemia vera' Class: http://www.orpha.net/ORDO/Orphanet_119879 Label: signal transducer and activator of transcription 1, 91kDa - 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Susceptibility to viral and mycobacterial infections' - 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'gene' - 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' - 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.2-q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Susceptibility to viral and mycobacterial infections' + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Chronic mucocutaneous candidosis' Class: http://www.orpha.net/ORDO/Orphanet_101085 Label: Charcot-Marie-Tooth disease type 1F - 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_119876 Label: steroidogenic acute regulatory protein - 'steroidogenic acute regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' - 'steroidogenic acute regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' - 'steroidogenic acute regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' - 'steroidogenic acute regulatory protein' SubClassOf 'gene' + 'steroidogenic acute regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'steroidogenic acute regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'steroidogenic acute regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' + 'steroidogenic acute regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'steroidogenic acute regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_101083 Label: Charcot-Marie-Tooth disease type 1C - 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 1C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101084 Label: Charcot-Marie-Tooth disease type 1D - 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease type 1D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_101089 Label: Hyper-IgM syndrome type 2 - 'Hyper-IgM syndrome type 2' SubClassOf 'part_of' some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' - 'Hyper-IgM syndrome type 2' SubClassOf 'clinical subtype' + 'Hyper-IgM syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' + 'Hyper-IgM syndrome type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119874 Label: synovial sarcoma, X breakpoint 1 - 'synovial sarcoma, X breakpoint 1' SubClassOf 'gene' - 'synovial sarcoma, X breakpoint 1' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' + 'synovial sarcoma, X breakpoint 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'synovial sarcoma, X breakpoint 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synovial sarcoma, X breakpoint 1' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_171860 Label: Intellectual disability - cataracts - kyphosis - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'disease' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'part_of' some 'Syndromic cataract' - 'Intellectual disability - cataracts - kyphosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - cataracts - kyphosis' SubClassOf 'disease' + 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - cataracts - kyphosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - cataracts - kyphosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - cataracts - kyphosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability - cataracts - kyphosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Intellectual disability - cataracts - kyphosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_247511 Label: Autosomal dominant secondary polycythemia - 'Autosomal dominant secondary polycythemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant secondary polycythemia' SubClassOf 'disease' - 'Autosomal dominant secondary polycythemia' SubClassOf 'part_of' some 'Congenital secondary polycythemia' - 'Autosomal dominant secondary polycythemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant secondary polycythemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant secondary polycythemia' SubClassOf 'disease' + 'Autosomal dominant secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant secondary polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital secondary polycythemia' + 'Autosomal dominant secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_317425 Label: Severe combined immunodeficiency due to DNA-PKcs deficiency - 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101088 Label: X-linked hyper-IgM syndrome - 'X-linked hyper-IgM syndrome' SubClassOf 'clinical subtype' - 'X-linked hyper-IgM syndrome' SubClassOf 'part_of' some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' + 'X-linked hyper-IgM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' + 'X-linked hyper-IgM syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_171851 Label: MEDNIK syndrome - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'MEDNIK syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MEDNIK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'MEDNIK syndrome' SubClassOf 'disease' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Disorder of copper metabolism' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Erythrokeratoderma' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Genetic erythrokeratoderma' - 'MEDNIK syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic erythrokeratoderma' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'MEDNIK syndrome' SubClassOf 'disease' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma' + 'MEDNIK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'MEDNIK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_275853 Label: Syndrome with pulmonary hypertension as a major feature - 'Syndrome with pulmonary hypertension as a major feature' SubClassOf 'group of disorders' + 'Syndrome with pulmonary hypertension as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101082 Label: Charcot-Marie-Tooth disease type 1B - 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_101081 Label: Charcot-Marie-Tooth disease type 1A - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' - 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "82.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_402379 Label: interleukin 21 - 'interleukin 21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' - 'interleukin 21' SubClassOf 'gene' + 'interleukin 21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 21' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q26-q27"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive early-onset inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_163668 Label: Spondyloepiphyseal dysplasia, MacDermot type - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'malformation syndrome' - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'malformation syndrome' + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_122732 Label: lysine (K)-specific demethylase 5C - 'lysine (K)-specific demethylase 5C' SubClassOf 'gene' - 'lysine (K)-specific demethylase 5C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic X-linked intellectual disability due to JARID1C mutation' + 'lysine (K)-specific demethylase 5C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic X-linked intellectual disability due to JARID1C mutation' + 'lysine (K)-specific demethylase 5C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22-p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'lysine (K)-specific demethylase 5C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357074 Label: Autosomal recessive cutis laxa type 2, classic type - 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'clinical subtype' - 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2A' + 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'clinical subtype' + 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cutis laxa type 2A' Class: http://www.orpha.net/ORDO/Orphanet_137577 Label: Neonatal hypoxic and ischemic brain injury - 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_inheritance' some 'sporadic' - 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'disease' - 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_140567 Label: v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'gene' - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' Class: http://www.orpha.net/ORDO/Orphanet_220877 Label: soc-2 suppressor of clear homolog (C. elegans) - 'soc-2 suppressor of clear homolog (C. elegans)' SubClassOf 'gene' - 'soc-2 suppressor of clear homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with loose anagen hair' + 'soc-2 suppressor of clear homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25"^^http://www.w3.org/2001/XMLSchema#string + 'soc-2 suppressor of clear homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'soc-2 suppressor of clear homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with loose anagen hair' Class: http://www.orpha.net/ORDO/Orphanet_199293 Label: Congenital microgastria - 'Congenital microgastria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital microgastria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital microgastria' SubClassOf 'part_of' some 'Non-syndromic gastroduodenal malformation' - 'Congenital microgastria' SubClassOf 'morphological anomaly' + 'Congenital microgastria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital microgastria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital microgastria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital microgastria' SubClassOf 'morphological anomaly' + 'Congenital microgastria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic gastroduodenal malformation' Class: http://www.orpha.net/ORDO/Orphanet_119868 Label: synovial sarcoma translocation, chromosome 18 - 'synovial sarcoma translocation, chromosome 18' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' - 'synovial sarcoma translocation, chromosome 18' SubClassOf 'gene' + 'synovial sarcoma translocation, chromosome 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synovial sarcoma translocation, chromosome 18' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' + 'synovial sarcoma translocation, chromosome 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_357064 Label: Autosomal recessive cutis laxa type 2B - 'Autosomal recessive cutis laxa type 2B' SubClassOf 'disease' - 'Autosomal recessive cutis laxa type 2B' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2' + 'Autosomal recessive cutis laxa type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cutis laxa type 2' + 'Autosomal recessive cutis laxa type 2B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_199296 Label: Congenital isolated ACTH deficiency - 'Congenital isolated ACTH deficiency' SubClassOf 'disease' - 'Congenital isolated ACTH deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital isolated ACTH deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' - 'Congenital isolated ACTH deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital isolated ACTH deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Congenital isolated ACTH deficiency' SubClassOf 'disease' + 'Congenital isolated ACTH deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital isolated ACTH deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital isolated ACTH deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_247525 Label: Citrullinemia type I - 'Citrullinemia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Citrullinemia type I' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Citrullinemia type I' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Citrullinemia type I' SubClassOf 'disease' - 'Citrullinemia type I' SubClassOf 'part_of' some 'Citrullinemia' + 'Citrullinemia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Citrullinemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Citrullinemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Citrullinemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Citrullinemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Citrullinemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Citrullinemia type I' SubClassOf 'disease' + 'Citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Citrullinemia' + 'Citrullinemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_293202 Label: Epithelioid sarcoma - 'Epithelioid sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Epithelioid sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Epithelioid sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Epithelioid sarcoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epithelioid sarcoma' SubClassOf 'disease' + 'Epithelioid sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Epithelioid sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Epithelioid sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Epithelioid sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epithelioid sarcoma' SubClassOf 'disease' + 'Epithelioid sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Epithelioid sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Epithelioid sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Epithelioid sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_411 Label: Hyperlipoproteinemia type 1 - 'Hyperlipoproteinemia type 1' SubClassOf 'part_of' some 'Major hypertriglyceridemia' - 'Hyperlipoproteinemia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperlipoproteinemia type 1' SubClassOf 'disease' - 'Hyperlipoproteinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyperlipoproteinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperlipoproteinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Major hypertriglyceridemia' + 'Hyperlipoproteinemia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperlipoproteinemia type 1' SubClassOf 'disease' + 'Hyperlipoproteinemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperlipoproteinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_171871 Label: Renal pseudohypoaldosteronism type 1 - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 1' - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renal pseudohypoaldosteronism type 1' SubClassOf 'clinical subtype' + 'Renal pseudohypoaldosteronism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renal pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 1' + 'Renal pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Renal pseudohypoaldosteronism type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_199299 Label: Late-onset isolated ACTH deficiency - 'Late-onset isolated ACTH deficiency' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' - 'Late-onset isolated ACTH deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Late-onset isolated ACTH deficiency' SubClassOf 'disease' + 'Late-onset isolated ACTH deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Late-onset isolated ACTH deficiency' SubClassOf 'disease' + 'Late-onset isolated ACTH deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_247522 Label: Primary ciliary dyskinesia - retinitis pigmentosa - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'disease' + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119862 Label: sushi-repeat containing protein, X-linked 2 - 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' - 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Bilateral perisylvian polymicrogyria' - 'sushi-repeat containing protein, X-linked 2' SubClassOf 'gene' - 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy - speech dyspraxia' + 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' + 'sushi-repeat containing protein, X-linked 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Bilateral perisylvian polymicrogyria' + 'sushi-repeat containing protein, X-linked 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.33-q23"^^http://www.w3.org/2001/XMLSchema#string + 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy - speech dyspraxia' Class: http://www.orpha.net/ORDO/Orphanet_289290 Label: Hypermethioninemia encephalopathy due to adenosine kinase deficiency - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'disease' + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119860 Label: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) - 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'Candidate gene tested in' some 'Familial prostate cancer' - 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' - 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'gene' + 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'Candidate gene tested in' some 'Familial prostate cancer' + 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_415 Label: Hyperornithinemia-hyperammonemia-homocitrullinuria - 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'disease' + 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'disease' + 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_101050 Label: Familial hypocalciuric hypercalcemia type 3 - 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'etiological subtype' - 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'part_of' some 'Familial hypocalciuric hypercalcemia' + 'Familial hypocalciuric hypercalcemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypocalciuric hypercalcemia' + 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_414 Label: Gyrate atrophy of choroid and retina - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Gyrate atrophy of choroid and retina' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Gyrate atrophy of choroid and retina' SubClassOf 'disease' - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' - 'Gyrate atrophy of choroid and retina' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Gyrate atrophy of choroid and retina' SubClassOf 'has_prevalence' some 'Unknown' - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Disorder of ornithine metabolism' - 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' + 'Gyrate atrophy of choroid and retina' SubClassOf 'disease' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Gyrate atrophy of choroid and retina' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Gyrate atrophy of choroid and retina' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gyrate atrophy of choroid and retina' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ornithine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_413 Label: Hyperlipoproteinemia type 4 - 'Hyperlipoproteinemia type 4' SubClassOf 'part_of' some 'Major hypertriglyceridemia' - 'Hyperlipoproteinemia type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperlipoproteinemia type 4' SubClassOf 'disease' - 'Hyperlipoproteinemia type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Hyperlipoproteinemia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Major hypertriglyceridemia' + 'Hyperlipoproteinemia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hyperlipoproteinemia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperlipoproteinemia type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101052 Label: Microlissencephaly type B - 'Microlissencephaly type B' SubClassOf 'part_of' some 'Microlissencephaly' - 'Microlissencephaly type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microlissencephaly type B' SubClassOf 'has_prevalence' some 'Unknown' - 'Microlissencephaly type B' SubClassOf 'disease' - 'Microlissencephaly type B' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microlissencephaly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microlissencephaly type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microlissencephaly type B' SubClassOf 'disease' + 'Microlissencephaly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microlissencephaly' + 'Microlissencephaly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119865 Label: sex determining region Y - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '45,X/46,XY mixed gonadal dysgenesis' - 'sex determining region Y' SubClassOf 'gene' - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'sex determining region Y' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sex determining region Y' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.3"^^http://www.w3.org/2001/XMLSchema#string + 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' + 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' + 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'sex determining region Y' SubClassOf 'Candidate gene tested in' some '45,X/46,XY mixed gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_412 Label: Hyperlipoproteinemia type 3 - 'Hyperlipoproteinemia type 3' SubClassOf 'part_of' some 'Combined hyperlipidemia' - 'Hyperlipoproteinemia type 3' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hyperlipoproteinemia type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperlipoproteinemia type 3' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Hyperlipoproteinemia type 3' SubClassOf 'disease' + 'Hyperlipoproteinemia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hyperlipoproteinemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined hyperlipidemia' + 'Hyperlipoproteinemia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Hyperlipoproteinemia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hyperlipoproteinemia type 3' SubClassOf 'disease' + 'Hyperlipoproteinemia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperlipoproteinemia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_407 Label: Glycine encephalopathy - 'Glycine encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycine encephalopathy' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Glycine encephalopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Glycine encephalopathy' SubClassOf 'part_of' some 'Disorder of serine or glycine metabolism' - 'Glycine encephalopathy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Glycine encephalopathy' SubClassOf 'disease' - 'Glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycine encephalopathy' SubClassOf 'disease' + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of serine or glycine metabolism' + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_408 Label: Isolated glycerol kinase deficiency - 'Isolated glycerol kinase deficiency' SubClassOf 'disease' - 'Isolated glycerol kinase deficiency' SubClassOf 'part_of' some 'Glycerol kinase deficiency' - 'Isolated glycerol kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Isolated glycerol kinase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isolated glycerol kinase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated glycerol kinase deficiency' SubClassOf 'disease' + 'Isolated glycerol kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Isolated glycerol kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isolated glycerol kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_285014 Label: Rare disease with thoracic aortic aneurysm and aortic dissection - 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'group of disorders' + 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_405 Label: Familial hypocalciuric hypercalcemia - 'Familial hypocalciuric hypercalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'part_of' some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'part_of' some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Familial hypocalciuric hypercalcemia' SubClassOf 'disease' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Familial hypocalciuric hypercalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Familial hypocalciuric hypercalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypocalciuric hypercalcemia' SubClassOf 'disease' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' Class: http://www.orpha.net/ORDO/Orphanet_317430 Label: Combined immunodeficiency due to STIM1 deficiency - 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency due to CRAC channel dysfunction' - 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'clinical subtype' + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined immunodeficiency due to CRAC channel dysfunction' + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_87884 Label: Non-syndromic genetic deafness - 'Non-syndromic genetic deafness' SubClassOf 'group of disorders' + 'Non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-syndromic genetic deafness' SubClassOf 'group of disorders' + 'Non-syndromic genetic deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-syndromic genetic deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_289298 Label: adenosine kinase - 'adenosine kinase' SubClassOf 'gene' - 'adenosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' + 'adenosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_171866 Label: Spondyloepimetaphyseal dysplasia, aggrecan type - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggrecan-related bone disorder' + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_275864 Label: Behavioral variant of frontotemporal dementia - 'Behavioral variant of frontotemporal dementia' SubClassOf 'part_of' some 'Frontotemporal dementia' - 'Behavioral variant of frontotemporal dementia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Behavioral variant of frontotemporal dementia' SubClassOf 'has_prevalence' some 'Unknown' - 'Behavioral variant of frontotemporal dementia' SubClassOf 'disease' - 'Behavioral variant of frontotemporal dementia' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' - 'Behavioral variant of frontotemporal dementia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Behavioral variant of frontotemporal dementia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Behavioral variant of frontotemporal dementia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Behavioral variant of frontotemporal dementia' SubClassOf 'disease' + 'Behavioral variant of frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Behavioral variant of frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' + 'Behavioral variant of frontotemporal dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_409 Label: Hyperkeratosis lenticularis perstans - 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_inheritance' some 'sporadic' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'disease' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Hyperkeratosis lenticularis perstans' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Hyperkeratosis lenticularis perstans' SubClassOf 'disease' + 'Hyperkeratosis lenticularis perstans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperkeratosis lenticularis perstans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hyperkeratosis lenticularis perstans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_171863 Label: Autosomal dominant spastic paraplegia type 42 - 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 42' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402364 Label: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'malformation syndrome' + 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'malformation syndrome' + 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_402368 Label: glutaredoxin, cysteine rich 2 - 'glutaredoxin, cysteine rich 2' SubClassOf 'gene' - 'glutaredoxin, cysteine rich 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'glutaredoxin, cysteine rich 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79207 Label: Disorder of lysosomal amino acid transport - 'Disorder of lysosomal amino acid transport' SubClassOf 'group of disorders' + 'Disorder of lysosomal amino acid transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_163696 Label: Action myoclonus - renal failure syndrome - 'Action myoclonus - renal failure syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Action myoclonus - renal failure syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Action myoclonus - renal failure syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Action myoclonus - renal failure syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Action myoclonus - renal failure syndrome' SubClassOf 'disease' - 'Action myoclonus - renal failure syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Action myoclonus - renal failure syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Action myoclonus - renal failure syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Action myoclonus - renal failure syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Action myoclonus - renal failure syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Action myoclonus - renal failure syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Action myoclonus - renal failure syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Action myoclonus - renal failure syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_357058 Label: Autosomal recessive cutis laxa type 2A - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'disease' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2' - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'part_of' some 'Defect in V-ATPase' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cutis laxa type 2' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in V-ATPase' + 'Autosomal recessive cutis laxa type 2A' SubClassOf 'disease' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_163699 Label: Alveolar soft-tissue sarcoma - 'Alveolar soft-tissue sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Alveolar soft-tissue sarcoma' SubClassOf 'disease' - 'Alveolar soft-tissue sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Alveolar soft-tissue sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alveolar soft-tissue sarcoma' SubClassOf 'disease' + 'Alveolar soft-tissue sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_122704 Label: integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) - 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Major susceptibility factor in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'gene' - 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glanzmann thrombasthenia' - 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' + 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Major susceptibility factor in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glanzmann thrombasthenia' + 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' + 'integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_163693 Label: 2p21 microdeletion syndrome - '2p21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2p21 microdeletion syndrome' SubClassOf 'part_of' some 'Hypotonia - cystinuria type 1' - '2p21 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '2p21 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2p21 microdeletion syndrome' SubClassOf 'disease' + '2p21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypotonia - cystinuria type 1' + '2p21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '2p21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2p21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2p21 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2p21 microdeletion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79204 Label: Lipid storage disease - 'Lipid storage disease' SubClassOf 'group of disorders' + 'Lipid storage disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_357054 Label: family with sequence similarity 111, member A - 'family with sequence similarity 111, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Kenny-Caffey syndrome' - 'family with sequence similarity 111, member A' SubClassOf 'gene' - 'family with sequence similarity 111, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteocraniostenosis' + 'family with sequence similarity 111, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 111, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Kenny-Caffey syndrome' + 'family with sequence similarity 111, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteocraniostenosis' + 'family with sequence similarity 111, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79201 Label: Glycogen storage disease - 'Glycogen storage disease' SubClassOf 'group of disorders' + 'Glycogen storage disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122708 Label: integrin, beta 4 - 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' - 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' - 'integrin, beta 4' SubClassOf 'gene' - 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' - 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa - pyloric atresia' + 'integrin, beta 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' + 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' + 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'integrin, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa - pyloric atresia' + 'integrin, beta 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101068 Label: Congenital stromal corneal dystrophy - 'Congenital stromal corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital stromal corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital stromal corneal dystrophy' SubClassOf 'disease' - 'Congenital stromal corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Congenital stromal corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital stromal corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital stromal corneal dystrophy' SubClassOf 'disease' + 'Congenital stromal corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Congenital stromal corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital stromal corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171881 Label: Cap myopathy - 'Cap myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cap myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cap myopathy' SubClassOf 'disease' - 'Cap myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin' - 'Cap myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Cap myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cap myopathy' SubClassOf 'disease' + 'Cap myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Cap myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cap myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of tropomyosin' + 'Cap myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cap myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_79200 Label: Disorder of energy metabolism - 'Disorder of energy metabolism' SubClassOf 'group of disorders' + 'Disorder of energy metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_400 Label: Cystic echinococcosis - 'Cystic echinococcosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cystic echinococcosis' SubClassOf 'disease' - 'Cystic echinococcosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cystic echinococcosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cystic echinococcosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Cystic echinococcosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cystic echinococcosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cystic echinococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic echinococcosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cystic echinococcosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163690 Label: Hypotonia - cystinuria syndrome - 'Hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotonia - cystinuria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotonia - cystinuria syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotonia - cystinuria syndrome' SubClassOf 'part_of' some 'Hypotonia - cystinuria type 1' - 'Hypotonia - cystinuria syndrome' SubClassOf 'disease' + 'Hypotonia - cystinuria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotonia - cystinuria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotonia - cystinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypotonia - cystinuria type 1' + 'Hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia - cystinuria syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119851 Label: spectrin, beta, non-erythrocytic 2 - 'spectrin, beta, non-erythrocytic 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spectrin-associated autosomal recessive cerebellar ataxia' - 'spectrin, beta, non-erythrocytic 2' SubClassOf 'gene' - 'spectrin, beta, non-erythrocytic 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 5' + 'spectrin, beta, non-erythrocytic 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin, beta, non-erythrocytic 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spectrin-associated autosomal recessive cerebellar ataxia' + 'spectrin, beta, non-erythrocytic 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'spectrin, beta, non-erythrocytic 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 5' Class: http://www.orpha.net/ORDO/Orphanet_101063 Label: Situs inversus totalis - 'Situs inversus totalis' SubClassOf 'part_of' some 'Heterotaxia' - 'Situs inversus totalis' SubClassOf 'morphological anomaly' - 'Situs inversus totalis' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Situs inversus totalis' SubClassOf 'morphological anomaly' + 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_119854 Label: serine palmitoyltransferase, long chain base subunit 1 - 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf 'gene' - 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401 Label: Hymenolepiasis - 'Hymenolepiasis' SubClassOf 'disease' - 'Hymenolepiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Hymenolepiasis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hymenolepiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hymenolepiasis' SubClassOf 'has_inheritance' some 'sporadic' + 'Hymenolepiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Hymenolepiasis' SubClassOf 'disease' + 'Hymenolepiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hymenolepiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_317445 Label: protein tyrosine phosphatase, non-receptor type 22 (lymphoid) - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Giant cell arteritis' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Vogt-Koyanagi-Harada disease' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'gene' - 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Giant cell arteritis' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Vogt-Koyanagi-Harada disease' + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_404 Label: Familial hyperaldosteronism type II - 'Familial hyperaldosteronism type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hyperaldosteronism type II' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Familial hyperaldosteronism type II' SubClassOf 'disease' - 'Familial hyperaldosteronism type II' SubClassOf 'part_of' some 'Genetic endocrine tumor' - 'Familial hyperaldosteronism type II' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Familial hyperaldosteronism type II' SubClassOf 'part_of' some 'Familial hyperaldosteronism' - 'Familial hyperaldosteronism type II' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Familial hyperaldosteronism type II' SubClassOf 'disease' + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Familial hyperaldosteronism type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hyperaldosteronism type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_403 Label: Familial hyperaldosteronism type I - 'Familial hyperaldosteronism type I' SubClassOf 'part_of' some 'Genetic hypertension' - 'Familial hyperaldosteronism type I' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hyperaldosteronism type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial hyperaldosteronism type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hyperaldosteronism type I' SubClassOf 'disease' - 'Familial hyperaldosteronism type I' SubClassOf 'part_of' some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Familial hyperaldosteronism type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hyperaldosteronism type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial hyperaldosteronism type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial hyperaldosteronism type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Familial hyperaldosteronism type I' SubClassOf 'disease' + 'Familial hyperaldosteronism type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_275872 Label: Frontotemporal dementia with motor neuron disease - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'part_of' some 'Genetic frontotemporal degeneration with dementia' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'disease' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'part_of' some 'Frontotemporal degeneration with dementia' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' - 'Frontotemporal dementia with motor neuron disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic frontotemporal degeneration with dementia' + 'Frontotemporal dementia with motor neuron disease' SubClassOf 'disease' + 'Frontotemporal dementia with motor neuron disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal degeneration with dementia' + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Frontotemporal dementia with motor neuron disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_87876 Label: Sialidosis type 2 - 'Sialidosis type 2' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Sialidosis type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Sialidosis type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sialidosis type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sialidosis type 2' SubClassOf 'disease' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Sialidosis' - 'Sialidosis type 2' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Sialidosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sialidosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis' + 'Sialidosis type 2' SubClassOf 'disease' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Sialidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sialidosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_171876 Label: Generalized pseudohypoaldosteronism type 1 - 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'clinical subtype' - 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 1' + 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'clinical subtype' + 'Generalized pseudohypoaldosteronism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Generalized pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 1' + 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_140560 Label: ATP-binding cassette, sub-family A (ABC1), member 3 - 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal acute respiratory distress with surfactant metabolism deficiency' - 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf 'gene' - 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neonatal acute respiratory distress with surfactant metabolism deficiency' + 'ATP-binding cassette, sub-family A (ABC1), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' Class: http://www.orpha.net/ORDO/Orphanet_293208 Label: Celiac trunk compression syndrome - 'Celiac trunk compression syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Celiac trunk compression syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Celiac trunk compression syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Celiac trunk compression syndrome' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Celiac trunk compression syndrome' SubClassOf 'disease' + 'Celiac trunk compression syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Celiac trunk compression syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Celiac trunk compression syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Celiac trunk compression syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122711 Label: integral membrane protein 2B - 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dementia, British type' - 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dementia, Danish type' - 'integral membrane protein 2B' SubClassOf 'gene' - 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' + 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dementia, British type' + 'integral membrane protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dementia, Danish type' + 'integral membrane protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' Class: http://www.orpha.net/ORDO/Orphanet_330717 Label: dynein regulatory complex subunit 1 - 'dynein regulatory complex subunit 1' SubClassOf 'gene' - 'dynein regulatory complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein regulatory complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein regulatory complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'dynein regulatory complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231500 Label: Hermansky-Pudlak syndrome with pulmonary fibrosis - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314485 Label: Young adult-onset distal hereditary motor neuropathy - 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' - 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'disease' - 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'disease' + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_213746 Label: Transitional cell carcinoma of the corpus uteri - 'Transitional cell carcinoma of the corpus uteri' SubClassOf 'disease' - 'Transitional cell carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Transitional cell carcinoma of the corpus uteri' SubClassOf 'disease' + 'Transitional cell carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_488 Label: Urachal cyst - 'Urachal cyst' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Urachal cyst' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Urachal cyst' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Urachal cyst' SubClassOf 'morphological anomaly' + 'Urachal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Urachal cyst' SubClassOf 'morphological anomaly' + 'Urachal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Urachal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' Class: http://www.orpha.net/ORDO/Orphanet_306727 Label: Postinfectious autoimmune disease with chorea - 'Postinfectious autoimmune disease with chorea' SubClassOf 'group of disorders' + 'Postinfectious autoimmune disease with chorea' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_487 Label: Krabbe disease - 'Krabbe disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Krabbe disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Krabbe disease' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Krabbe disease' SubClassOf 'disease' - 'Krabbe disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Krabbe disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Krabbe disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Krabbe disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Krabbe disease' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Krabbe disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Krabbe disease' SubClassOf 'part_of' some 'Sphingolipidosis' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Krabbe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf 'disease' + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Krabbe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_486 Label: Autosomal dominant severe congenital neutropenia - 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant severe congenital neutropenia' SubClassOf 'disease' - 'Autosomal dominant severe congenital neutropenia' SubClassOf 'part_of' some 'Severe congenital neutropenia' - 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant severe congenital neutropenia' SubClassOf 'disease' + 'Autosomal dominant severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe congenital neutropenia' + 'Autosomal dominant severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_485 Label: Kniest dysplasia - 'Kniest dysplasia' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with collagen disease' - 'Kniest dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kniest dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Kniest dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Kniest dysplasia' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Kniest dysplasia' SubClassOf 'disease' - 'Kniest dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Kniest dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Kniest dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kniest dysplasia' SubClassOf 'disease' + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with collagen disease' + 'Kniest dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_239943 Label: TBC1 domain family, member 24 - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy with dystonia' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive deafness-onychodystrophy syndrome' - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile myoclonic epilepsy' - 'TBC1 domain family, member 24' SubClassOf 'gene' + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' + 'TBC1 domain family, member 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'TBC1 domain family, member 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'TBC1 domain family, member 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial infantile myoclonic epilepsy' + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive deafness-onychodystrophy syndrome' + 'TBC1 domain family, member 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Malignant migrating partial seizures of infancy' + 'TBC1 domain family, member 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive myoclonic epilepsy with dystonia' Class: http://www.orpha.net/ORDO/Orphanet_483 Label: Congenital high-molecular-weight kininogen deficiency - 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'disease' - 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital high-molecular-weight kininogen deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'disease' + 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_317726 Label: guanylate cyclase 2C (heat stable enterotoxin receptor) - 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic diarrhea due to guanylate cyclase 2C overactivity' - 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf 'gene' - 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' + 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic diarrhea due to guanylate cyclase 2C overactivity' + 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanylate cyclase 2C (heat stable enterotoxin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' Class: http://www.orpha.net/ORDO/Orphanet_482 Label: Kimura disease - 'Kimura disease' SubClassOf 'disease' - 'Kimura disease' SubClassOf 'part_of' some 'Rare systemic disease' - 'Kimura disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kimura disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Kimura disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Kimura disease' SubClassOf 'disease' + 'Kimura disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Kimura disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kimura disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_213741 Label: Adenoid cystic carcinoma of the corpus uteri - 'Adenoid cystic carcinoma of the corpus uteri' SubClassOf 'disease' - 'Adenoid cystic carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Adenoid cystic carcinoma of the corpus uteri' SubClassOf 'disease' + 'Adenoid cystic carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_481 Label: Kennedy disease - 'Kennedy disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Kennedy disease' SubClassOf 'part_of' some 'Rare male infertility due to testicular endocrine disorder' - 'Kennedy disease' SubClassOf 'part_of' some 'Bulbospinal muscular atrophy of adult' - 'Kennedy disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Kennedy disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Kennedy disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Kennedy disease' SubClassOf 'disease' - 'Kennedy disease' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Kennedy disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Kennedy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bulbospinal muscular atrophy of adult' + 'Kennedy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Kennedy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Kennedy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Kennedy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to testicular endocrine disorder' + 'Kennedy disease' SubClassOf 'disease' + 'Kennedy disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_480 Label: Kearns-Sayre syndrome - 'Kearns-Sayre syndrome' SubClassOf 'disease' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Kearns-Sayre syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Kearns-Sayre syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Kearns-Sayre syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Kearns-Sayre syndrome' SubClassOf 'disease' + 'Kearns-Sayre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Kearns-Sayre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Kearns-Sayre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Kearns-Sayre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Kearns-Sayre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Kearns-Sayre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Kearns-Sayre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kearns-Sayre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Kearns-Sayre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_239949 Label: WD repeat domain 62 - 'WD repeat domain 62' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'WD repeat domain 62' SubClassOf 'gene' + 'WD repeat domain 62' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 62' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'WD repeat domain 62' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_286634 Label: kinesin family member 22 - 'kinesin family member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia with multiple dislocations' - 'kinesin family member 22' SubClassOf 'gene' + 'kinesin family member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia with multiple dislocations' + 'kinesin family member 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276174 Label: Idiopathic recurrent stupor - 'Idiopathic recurrent stupor' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Idiopathic recurrent stupor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic recurrent stupor' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic recurrent stupor' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic recurrent stupor' SubClassOf 'disease' + 'Idiopathic recurrent stupor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic recurrent stupor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic recurrent stupor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Idiopathic recurrent stupor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_270043 Label: glutamate decarboxylase 1 (brain, 67kDa) - 'glutamate decarboxylase 1 (brain, 67kDa)' SubClassOf 'gene' - 'glutamate decarboxylase 1 (brain, 67kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' + 'glutamate decarboxylase 1 (brain, 67kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate decarboxylase 1 (brain, 67kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate decarboxylase 1 (brain, 67kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' Class: http://www.orpha.net/ORDO/Orphanet_98274 Label: Myeloproliferative neoplasm - 'Myeloproliferative neoplasm' SubClassOf 'group of disorders' + 'Myeloproliferative neoplasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myeloproliferative neoplasm' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122438 Label: hydroxymethylbilane synthase - 'hydroxymethylbilane synthase' SubClassOf 'gene' - 'hydroxymethylbilane synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute intermittent porphyria' + 'hydroxymethylbilane synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxymethylbilane synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute intermittent porphyria' + 'hydroxymethylbilane synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_208524 Label: Herpetiform pemphigus - 'Herpetiform pemphigus' SubClassOf 'disease' - 'Herpetiform pemphigus' SubClassOf 'part_of' some 'Superficial pemphigus' + 'Herpetiform pemphigus' SubClassOf 'disease' + 'Herpetiform pemphigus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial pemphigus' Class: http://www.orpha.net/ORDO/Orphanet_286631 Label: transmembrane protein 237 - 'transmembrane protein 237' SubClassOf 'gene' - 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' - 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'transmembrane protein 237' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' + 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'transmembrane protein 237' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_270045 Label: adaptor-related protein complex 4, epsilon 1 subunit - 'adaptor-related protein complex 4, epsilon 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' - 'adaptor-related protein complex 4, epsilon 1 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 4, epsilon 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, epsilon 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 4, epsilon 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_140286 Label: Secondary hypoparathyroidism due to impaired parathormon secretion - 'Secondary hypoparathyroidism due to impaired parathormon secretion' SubClassOf 'group of disorders' + 'Secondary hypoparathyroidism due to impaired parathormon secretion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99324 Label: Paternal uniparental disomy of chromosome 13 - 'Paternal uniparental disomy of chromosome 13' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Paternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122430 Label: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) - 'holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holocarboxylase synthetase deficiency' - 'holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)' SubClassOf 'gene' + 'holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holocarboxylase synthetase deficiency' + 'holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98275 Label: Myelodysplastic/myeloproliferative disease - 'Myelodysplastic/myeloproliferative disease' SubClassOf 'group of disorders' + 'Myelodysplastic/myeloproliferative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289685 Label: Myopericytoma - 'Myopericytoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated mesenchymal tumor' - 'Myopericytoma' SubClassOf 'disease' + 'Myopericytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated mesenchymal tumor' + 'Myopericytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289682 Label: Lymphoepithelial-like carcinoma - 'Lymphoepithelial-like carcinoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated carcinoma' - 'Lymphoepithelial-like carcinoma' SubClassOf 'disease' + 'Lymphoepithelial-like carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated carcinoma' + 'Lymphoepithelial-like carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98277 Label: Acute myeloid leukemia with recurrent genetic anomaly - 'Acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'group of disorders' + 'Acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231512 Label: Hermansky-Pudlak syndrome without pulmonary fibrosis - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_69665 Label: Intrahepatic cholestasis of pregnancy - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'disease' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_prevalence' some 'Unknown' + 'Intrahepatic cholestasis of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Intrahepatic cholestasis of pregnancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1000.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Intrahepatic cholestasis of pregnancy' SubClassOf 'disease' + 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Intrahepatic cholestasis of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Intrahepatic cholestasis of pregnancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_166409 Label: Photosensitive epilepsy - 'Photosensitive epilepsy' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Photosensitive epilepsy' SubClassOf 'disease' + 'Photosensitive epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Photosensitive epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_499 Label: Kerion celsi - 'Kerion celsi' SubClassOf 'has_prevalence' some 'Unknown' - 'Kerion celsi' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Kerion celsi' SubClassOf 'disease' - 'Kerion celsi' SubClassOf 'has_inheritance' some 'sporadic' - 'Kerion celsi' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Kerion celsi' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kerion celsi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Kerion celsi' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Kerion celsi' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_498 Label: Keratosis pilaris atrophicans - 'Keratosis pilaris atrophicans' SubClassOf 'group of disorders' + 'Keratosis pilaris atrophicans' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_493 Label: Familial keratoacanthoma - 'Familial keratoacanthoma' SubClassOf 'part_of' some 'Benign tumor of palpebral epidermis' - 'Familial keratoacanthoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial keratoacanthoma' SubClassOf 'part_of' some 'Palpebral tumor' - 'Familial keratoacanthoma' SubClassOf 'disease' - 'Familial keratoacanthoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial keratoacanthoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial keratoacanthoma' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Familial keratoacanthoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Familial keratoacanthoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial keratoacanthoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Familial keratoacanthoma' SubClassOf 'disease' + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign tumor of palpebral epidermis' + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor' Class: http://www.orpha.net/ORDO/Orphanet_270026 Label: DNA (cytosine-5-)-methyltransferase 1 - 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' - 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf 'gene' + 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' + 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_492 Label: Proliferating trichilemmal cyst - 'Proliferating trichilemmal cyst' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Proliferating trichilemmal cyst' SubClassOf 'disease' - 'Proliferating trichilemmal cyst' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Proliferating trichilemmal cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Proliferating trichilemmal cyst' SubClassOf 'disease' + 'Proliferating trichilemmal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_213751 Label: Malignant germ cell tumor of the corpus uteri - 'Malignant germ cell tumor of the corpus uteri' SubClassOf 'disease' - 'Malignant germ cell tumor of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Malignant germ cell tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' + 'Malignant germ cell tumor of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_69663 Label: Low phospholipid associated cholelithiasis - 'Low phospholipid associated cholelithiasis' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Low phospholipid associated cholelithiasis' SubClassOf 'part_of' some 'Genetic biliary tract disease' - 'Low phospholipid associated cholelithiasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Low phospholipid associated cholelithiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Low phospholipid associated cholelithiasis' SubClassOf 'disease' + 'Low phospholipid associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic biliary tract disease' + 'Low phospholipid associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Low phospholipid associated cholelithiasis' SubClassOf 'disease' + 'Low phospholipid associated cholelithiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_495 Label: Transgrediens et progrediens palmoplantar keratoderma - 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' - 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'disease' + 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306734 Label: Primary dystonia, DYT21 type - 'Primary dystonia, DYT21 type' SubClassOf 'part_of' some 'Generalized isolated dystonia' - 'Primary dystonia, DYT21 type' SubClassOf 'disease' + 'Primary dystonia, DYT21 type' SubClassOf 'disease' + 'Primary dystonia, DYT21 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized isolated dystonia' Class: http://www.orpha.net/ORDO/Orphanet_239955 Label: WD repeat domain 35 - 'WD repeat domain 35' SubClassOf 'gene' - 'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' + 'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' + 'WD repeat domain 35' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 35' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_494 Label: Keratoderma hereditarium mutilans - 'Keratoderma hereditarium mutilans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Keratoderma hereditarium mutilans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Keratoderma hereditarium mutilans' SubClassOf 'disease' - 'Keratoderma hereditarium mutilans' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Keratoderma hereditarium mutilans' SubClassOf 'part_of' some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratoderma hereditarium mutilans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Keratoderma hereditarium mutilans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Keratoderma hereditarium mutilans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Keratoderma hereditarium mutilans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratoderma hereditarium mutilans' SubClassOf 'disease' + 'Keratoderma hereditarium mutilans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_36426 Label: Stevens-Johnson syndrome - 'Stevens-Johnson syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Stevens-Johnson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Stevens-Johnson syndrome' SubClassOf 'clinical subtype' - 'Stevens-Johnson syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Stevens-Johnson syndrome' SubClassOf 'part_of' some 'Toxic epidermal necrolysis' + 'Stevens-Johnson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Stevens-Johnson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Stevens-Johnson syndrome' SubClassOf 'clinical subtype' + 'Stevens-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic epidermal necrolysis' + 'Stevens-Johnson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_286639 Label: phospholipase A2, group V - 'phospholipase A2, group V' SubClassOf 'gene' - 'phospholipase A2, group V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial benign flecked retina' + 'phospholipase A2, group V' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36-p34"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase A2, group V' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase A2, group V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial benign flecked retina' Class: http://www.orpha.net/ORDO/Orphanet_239959 Label: occludin - 'occludin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital intrauterine infection-like syndrome' - 'occludin' SubClassOf 'gene' + 'occludin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'occludin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital intrauterine infection-like syndrome' + 'occludin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_490 Label: Omphalomesenteric cyst - 'Omphalomesenteric cyst' SubClassOf 'morphological anomaly' - 'Omphalomesenteric cyst' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Omphalomesenteric cyst' SubClassOf 'morphological anomaly' + 'Omphalomesenteric cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_317719 Label: glutamyl-tRNA synthetase 2, mitochondrial - 'glutamyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'glutamyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' + 'glutamyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutamyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' Class: http://www.orpha.net/ORDO/Orphanet_306731 Label: Sydenham chorea - 'Sydenham chorea' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Sydenham chorea' SubClassOf 'part_of' some 'Postinfectious autoimmune disease with chorea' + 'Sydenham chorea' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Sydenham chorea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious autoimmune disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_122417 Label: hypermethylated in cancer 1 - 'hypermethylated in cancer 1' SubClassOf 'gene' - 'hypermethylated in cancer 1' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' + 'hypermethylated in cancer 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hypermethylated in cancer 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'hypermethylated in cancer 1' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122427 Label: major histocompatibility complex, class II, DR beta 1 - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Limited systemic sclerosis' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'gene' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Candidate gene tested in' some 'Bullous pemphigoid' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Sarcoidosis' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Follicular lymphoma' - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy without cataplexy' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Limited systemic sclerosis' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Candidate gene tested in' some 'Bullous pemphigoid' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Sarcoidosis' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Follicular lymphoma' + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy without cataplexy' Class: http://www.orpha.net/ORDO/Orphanet_208513 Label: Spinocerebellar ataxia type 29 - 'Spinocerebellar ataxia type 29' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinocerebellar ataxia type 29' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 29' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 29' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 29' SubClassOf 'disease' + 'Spinocerebellar ataxia type 29' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 29' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinocerebellar ataxia type 29' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spinocerebellar ataxia type 29' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 29' SubClassOf 'disease' + 'Spinocerebellar ataxia type 29' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_98261 Label: Progressive myoclonic epilepsy - 'Progressive myoclonic epilepsy' SubClassOf 'group of disorders' + 'Progressive myoclonic epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_270032 Label: myosin IE - 'myosin IE' SubClassOf 'gene' - 'myosin IE' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'myosin IE' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'myosin IE' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'myosin IE' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122424 Label: major histocompatibility complex, class II, DR alpha - 'major histocompatibility complex, class II, DR alpha' SubClassOf 'gene' - 'major histocompatibility complex, class II, DR alpha' SubClassOf 'Major susceptibility factor in' some 'Graham Little-Piccardi-Lassueur syndrome' + 'major histocompatibility complex, class II, DR alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major histocompatibility complex, class II, DR alpha' SubClassOf 'Major susceptibility factor in' some 'Graham Little-Piccardi-Lassueur syndrome' + 'major histocompatibility complex, class II, DR alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98260 Label: Adolescent-onset epilepsy syndrome - 'Adolescent-onset epilepsy syndrome' SubClassOf 'group of disorders' + 'Adolescent-onset epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276183 Label: Spinocerebellar ataxia type 32 - 'Spinocerebellar ataxia type 32' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 32' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 32' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 32' SubClassOf 'disease' - 'Spinocerebellar ataxia type 32' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 32' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 32' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 32' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 32' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 32' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122422 Label: major histocompatibility complex, class I, B - 'major histocompatibility complex, class I, B' SubClassOf 'gene' - 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Stevens-Johnson syndrome' - 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' + 'major histocompatibility complex, class I, B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Stevens-Johnson syndrome' + 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Pulmonary arterial hypertension associated with connective tissue disease' + 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'major histocompatibility complex, class I, B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major histocompatibility complex, class I, B' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' Class: http://www.orpha.net/ORDO/Orphanet_122420 Label: hexokinase 1 - 'hexokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4G' - 'hexokinase 1' SubClassOf 'gene' - 'hexokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' + 'hexokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4G' + 'hexokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'hexokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hexokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_166415 Label: Audiogenic seizures - 'Audiogenic seizures' SubClassOf 'disease' - 'Audiogenic seizures' SubClassOf 'part_of' some 'Reflex epilepsy' + 'Audiogenic seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Audiogenic seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_330730 Label: mucin 1, cell surface associated - 'mucin 1, cell surface associated' SubClassOf 'gene' - 'mucin 1, cell surface associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' + 'mucin 1, cell surface associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' + 'mucin 1, cell surface associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucin 1, cell surface associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98267 Label: Genetic non-syndromic obesity - 'Genetic non-syndromic obesity' SubClassOf 'group of disorders' + 'Genetic non-syndromic obesity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166412 Label: Hot water reflex epilepsy - 'Hot water reflex epilepsy' SubClassOf 'disease' - 'Hot water reflex epilepsy' SubClassOf 'part_of' some 'Reflex epilepsy' + 'Hot water reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Hot water reflex epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_466 Label: Fatal familial insomnia - 'Fatal familial insomnia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fatal familial insomnia' SubClassOf 'part_of' some 'Genetic dementia' - 'Fatal familial insomnia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fatal familial insomnia' SubClassOf 'disease' - 'Fatal familial insomnia' SubClassOf 'has_inheritance' some 'sporadic' - 'Fatal familial insomnia' SubClassOf 'part_of' some 'Inherited prion disease' - 'Fatal familial insomnia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Fatal familial insomnia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fatal familial insomnia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Fatal familial insomnia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fatal familial insomnia' SubClassOf 'disease' + 'Fatal familial insomnia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fatal familial insomnia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dementia' + 'Fatal familial insomnia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_465 Label: Congenital plasminogen activator inhibitor type 1 deficiency - 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'disease' - 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'disease' + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_464 Label: Incontinentia pigmenti - 'Incontinentia pigmenti' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Incontinentia pigmenti' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Dentocutaneous disease with cataract' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' - 'Incontinentia pigmenti' SubClassOf 'malformation syndrome' - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Precancerous lesion of palpebral epidermis' - 'Incontinentia pigmenti' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precancerous lesion of palpebral epidermis' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentocutaneous disease with cataract' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Incontinentia pigmenti' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Incontinentia pigmenti' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Incontinentia pigmenti' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Incontinentia pigmenti' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Incontinentia pigmenti' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Incontinentia pigmenti' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314466 Label: Atypical Meigs syndrome - 'Atypical Meigs syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical Meigs syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Atypical Meigs syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical Meigs syndrome' SubClassOf 'clinical syndrome' - 'Atypical Meigs syndrome' SubClassOf 'part_of' some 'Rare benign ovarian tumor' + 'Atypical Meigs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical Meigs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atypical Meigs syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' + 'Atypical Meigs syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306747 Label: Rare myoclonus - 'Rare myoclonus' SubClassOf 'group of disorders' + 'Rare myoclonus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213767 Label: Rare squamous cell carcinoma of the cervix uteri - 'Rare squamous cell carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' - 'Rare squamous cell carcinoma of the cervix uteri' SubClassOf 'disease' + 'Rare squamous cell carcinoma of the cervix uteri' SubClassOf 'disease' + 'Rare squamous cell carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_463 Label: Adrenal incidentaloma - 'Adrenal incidentaloma' SubClassOf 'has_prevalence' some 'Unknown' - 'Adrenal incidentaloma' SubClassOf 'has_inheritance' some 'sporadic' - 'Adrenal incidentaloma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adrenal incidentaloma' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Adrenal incidentaloma' SubClassOf 'disease' + 'Adrenal incidentaloma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adrenal incidentaloma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adrenal incidentaloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Adrenal incidentaloma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_469 Label: Hereditary fructose intolerance - 'Hereditary fructose intolerance' SubClassOf 'disease' - 'Hereditary fructose intolerance' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Hereditary fructose intolerance' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hereditary fructose intolerance' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary fructose intolerance' SubClassOf 'part_of' some 'Disorder of fructose metabolism' - 'Hereditary fructose intolerance' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary fructose intolerance' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Hereditary fructose intolerance' SubClassOf 'part_of' some 'Congenital intestinal transport defect' - 'Hereditary fructose intolerance' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fructose metabolism' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary fructose intolerance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hereditary fructose intolerance' SubClassOf 'disease' + 'Hereditary fructose intolerance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary fructose intolerance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal transport defect' + 'Hereditary fructose intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_91500 Label: Tubulointerstitial nephritis and uveitis syndrome - 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf 'disease' - 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' + 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf 'disease' + 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_467 Label: Non-acquired combined pituitary hormone deficiency - 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' - 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Non-acquired combined pituitary hormone deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Non-acquired combined pituitary hormone deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306741 Label: Hemidystonia-hemiatrophy syndrome - 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'disease' - 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'part_of' some 'Rare dystonia' - 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemidystonia-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dystonia' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'disease' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_286604 Label: complement factor H-related 5 - 'complement factor H-related 5' SubClassOf 'gene' - 'complement factor H-related 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' - 'complement factor H-related 5' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' + 'complement factor H-related 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement factor H-related 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor H-related 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' + 'complement factor H-related 5' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_213761 Label: Rare cancer of the cervix uteri - 'Rare cancer of the cervix uteri' SubClassOf 'group of disorders' + 'Rare cancer of the cervix uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_216694 Label: Congenitally corrected transposition of the great arteries - 'Congenitally corrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenitally corrected transposition of the great arteries' SubClassOf 'part_of' some 'Transposition of the great arteries' - 'Congenitally corrected transposition of the great arteries' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenitally corrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenitally corrected transposition of the great arteries' SubClassOf 'morphological anomaly' + 'Congenitally corrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transposition of the great arteries' + 'Congenitally corrected transposition of the great arteries' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenitally corrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenitally corrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenitally corrected transposition of the great arteries' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_461 Label: Recessive X-linked ichthyosis - 'Recessive X-linked ichthyosis' SubClassOf 'part_of' some 'Ichthyosis associated with ocular features' - 'Recessive X-linked ichthyosis' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Recessive X-linked ichthyosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Recessive X-linked ichthyosis' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' - 'Recessive X-linked ichthyosis' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Recessive X-linked ichthyosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Recessive X-linked ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive X-linked ichthyosis' SubClassOf 'disease' + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Recessive X-linked ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Recessive X-linked ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ichthyosis associated with ocular features' + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Recessive X-linked ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Recessive X-linked ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Recessive X-linked ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recessive X-linked ichthyosis' SubClassOf 'disease' + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' Class: http://www.orpha.net/ORDO/Orphanet_36412 Label: Hypocomplementemic urticarial vasculitis - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'disease' + 'Hypocomplementemic urticarial vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypocomplementemic urticarial vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Hypocomplementemic urticarial vasculitis' SubClassOf 'disease' + 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_317704 Label: SRY (sex determining region Y)-box 5 - 'SRY (sex determining region Y)-box 5' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental and speech delay due to SOX5 deficiency' - 'SRY (sex determining region Y)-box 5' SubClassOf 'Role in the phenotype of' some '12p12.1 microdeletion syndrome' + 'SRY (sex determining region Y)-box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental and speech delay due to SOX5 deficiency' + 'SRY (sex determining region Y)-box 5' SubClassOf 'Role in the phenotype of' some '12p12.1 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98290 Label: Immunodeficiency-associated lymphoproliferative disease - 'Immunodeficiency-associated lymphoproliferative disease' SubClassOf 'group of disorders' + 'Immunodeficiency-associated lymphoproliferative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309796 Label: Rhizomelic chondrodysplasia punctata type 2 - 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'etiological subtype' - 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'part_of' some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_122453 Label: 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) - '3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' - '3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)' SubClassOf 'gene' + '3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' + '3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276193 Label: Spinocerebellar ataxia type 35 - 'Spinocerebellar ataxia type 35' SubClassOf 'disease' - 'Spinocerebellar ataxia type 35' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 35' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 35' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 35' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 35' SubClassOf 'disease' + 'Spinocerebellar ataxia type 35' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 35' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 35' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 35' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122455 Label: hepatocyte nuclear factor 4, alpha - 'hepatocyte nuclear factor 4, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to HNF4A deficiency' - 'hepatocyte nuclear factor 4, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'hepatocyte nuclear factor 4, alpha' SubClassOf 'gene' + 'hepatocyte nuclear factor 4, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to HNF4A deficiency' + 'hepatocyte nuclear factor 4, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'hepatocyte nuclear factor 4, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'hepatocyte nuclear factor 4, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98292 Label: Mastocytosis - 'Mastocytosis' SubClassOf 'group of disorders' + 'Mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mastocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98291 Label: Lymphoproliferative disease associated with primary immune disease - 'Lymphoproliferative disease associated with primary immune disease' SubClassOf 'group of disorders' + 'Lymphoproliferative disease associated with primary immune disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lymphoproliferative disease associated with primary immune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98293 Label: Hodgkin lymphoma - 'Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "46.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Hodgkin lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276198 Label: Spinocerebellar ataxia type 36 - 'Spinocerebellar ataxia type 36' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 36' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 36' SubClassOf 'disease' - 'Spinocerebellar ataxia type 36' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 36' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 36' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 36' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 36' SubClassOf 'disease' + 'Spinocerebellar ataxia type 36' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 36' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_99329 Label: 48,XYYY syndrome - '48,XYYY syndrome' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - '48,XYYY syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '48,XYYY syndrome' SubClassOf 'malformation syndrome' - '48,XYYY syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - '48,XYYY syndrome' SubClassOf 'part_of' some 'Y chromosome number anomaly' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '48,XYYY syndrome' SubClassOf 'malformation syndrome' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Y chromosome number anomaly' Class: http://www.orpha.net/ORDO/Orphanet_475 Label: Joubert syndrome - 'Joubert syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome' SubClassOf 'part_of' some 'Genetic cerebellar malformation' - 'Joubert syndrome' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' - 'Joubert syndrome' SubClassOf 'disease' - 'Joubert syndrome' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Joubert syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome' SubClassOf 'disease' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar vermis' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebellar malformation' + 'Joubert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Joubert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_327299 Label: PR domain containing 8 - 'PR domain containing 8' SubClassOf 'gene' - 'PR domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset Lafora body disease' + 'PR domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21"^^http://www.w3.org/2001/XMLSchema#string + 'PR domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset Lafora body disease' + 'PR domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_474 Label: Jeune syndrome - 'Jeune syndrome' SubClassOf 'malformation syndrome' - 'Jeune syndrome' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Jeune syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Jeune syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jeune syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Jeune syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Jeune syndrome' SubClassOf 'malformation syndrome' + 'Jeune syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Jeune syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.89"^^http://www.w3.org/2001/XMLSchema#string) + 'Jeune syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Jeune syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Jeune syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_306759 Label: Non progressive epilepsy and/or ataxia with myoclonus as a major feature - 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of disorders' + 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213777 Label: Poorly differentiated endocrine carcinoma of the cervix uteri - 'Poorly differentiated endocrine carcinoma of the cervix uteri' SubClassOf 'disease' - 'Poorly differentiated endocrine carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' + 'Poorly differentiated endocrine carcinoma of the cervix uteri' SubClassOf 'disease' + 'Poorly differentiated endocrine carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_477 Label: KID syndrome - 'KID syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'KID syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'KID syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'KID syndrome' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' - 'KID syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'KID syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'KID syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'KID syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'KID syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'KID syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'KID syndrome' SubClassOf 'disease' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'KID syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'KID syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'KID syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'KID syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'KID syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_330703 Label: transcription factor 12 - 'transcription factor 12' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' - 'transcription factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated plagiocephaly' - 'transcription factor 12' SubClassOf 'gene' - 'transcription factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated brachycephaly' + 'transcription factor 12' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'transcription factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated plagiocephaly' + 'transcription factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated brachycephaly' Class: http://www.orpha.net/ORDO/Orphanet_314478 Label: Ovarian fibrothecoma - 'Ovarian fibrothecoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Ovarian fibrothecoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ovarian fibrothecoma' SubClassOf 'disease' - 'Ovarian fibrothecoma' SubClassOf 'part_of' some 'Rare benign ovarian tumor' - 'Ovarian fibrothecoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ovarian fibrothecoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' + 'Ovarian fibrothecoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ovarian fibrothecoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ovarian fibrothecoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314473 Label: Ovarian fibroma - 'Ovarian fibroma' SubClassOf 'has_prevalence' some 'Unknown' - 'Ovarian fibroma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ovarian fibroma' SubClassOf 'disease' - 'Ovarian fibroma' SubClassOf 'part_of' some 'Rare benign ovarian tumor' - 'Ovarian fibroma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ovarian fibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' + 'Ovarian fibroma' SubClassOf 'disease' + 'Ovarian fibroma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ovarian fibroma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_478 Label: Kallmann syndrome - 'Kallmann syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Kallmann syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Kallmann syndrome' SubClassOf 'disease' - 'Kallmann syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kallmann syndrome' SubClassOf 'part_of' some 'Isolated congenital hypogonadotropic hypogonadism' - 'Kallmann syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Kallmann syndrome' SubClassOf 'disease' + 'Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Kallmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital hypogonadotropic hypogonadism' + 'Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kallmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Kallmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_306750 Label: Primary myoclonus - 'Primary myoclonus' SubClassOf 'group of disorders' + 'Primary myoclonus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306753 Label: Rare disease with myoclonus as a major feature - 'Rare disease with myoclonus as a major feature' SubClassOf 'group of disorders' + 'Rare disease with myoclonus as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_286619 Label: thioredoxin reductase 2 - 'thioredoxin reductase 2' SubClassOf 'gene' - 'thioredoxin reductase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'thioredoxin reductase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'thioredoxin reductase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'thioredoxin reductase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial glucocorticoid deficiency' + 'thioredoxin reductase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_270048 Label: adaptor-related protein complex 4, beta 1 subunit - 'adaptor-related protein complex 4, beta 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 4, beta 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, beta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 4, beta 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, beta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_470 Label: Lysinuric protein intolerance - 'Lysinuric protein intolerance' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Lysinuric protein intolerance' SubClassOf 'has_prevalence' some 'Unknown' - 'Lysinuric protein intolerance' SubClassOf 'disease' - 'Lysinuric protein intolerance' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lysinuric protein intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Lysinuric protein intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Lysinuric protein intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Lysinuric protein intolerance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lysinuric protein intolerance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lysinuric protein intolerance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Lysinuric protein intolerance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Lysinuric protein intolerance' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306756 Label: Epilepsy and/or ataxia with myoclonus as major feature - 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'group of disorders' + 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213772 Label: Adenocarcinoma of the cervix uteri - 'Adenocarcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' - 'Adenocarcinoma of the cervix uteri' SubClassOf 'disease' + 'Adenocarcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' + 'Adenocarcinoma of the cervix uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_472 Label: Isosporiasis - 'Isosporiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Isosporiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isosporiasis' SubClassOf 'disease' - 'Isosporiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Isosporiasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Isosporiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isosporiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Isosporiasis' SubClassOf 'disease' + 'Isosporiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_270052 Label: adaptor-related protein complex 4, sigma 1 subunit - 'adaptor-related protein complex 4, sigma 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 4, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 4, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 4, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_99330 Label: 49,XYYYY syndrome - '49,XYYYY syndrome' SubClassOf 'part_of' some 'Y chromosome number anomaly' - '49,XYYYY syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '49,XYYYY syndrome' SubClassOf 'malformation syndrome' - '49,XYYYY syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Y chromosome number anomaly' + '49,XYYYY syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98282 Label: Plasma cell tumor - 'Plasma cell tumor' SubClassOf 'group of disorders' + 'Plasma cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122447 Label: 3-hydroxymethyl-3-methylglutaryl-CoA lyase - '3-hydroxymethyl-3-methylglutaryl-CoA lyase' SubClassOf 'gene' - '3-hydroxymethyl-3-methylglutaryl-CoA lyase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-hydroxy-3-methylglutaric aciduria' + '3-hydroxymethyl-3-methylglutaryl-CoA lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string + '3-hydroxymethyl-3-methylglutaryl-CoA lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '3-hydroxymethyl-3-methylglutaryl-CoA lyase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-hydroxy-3-methylglutaric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_98289 Label: Dendritic cell tumor - 'Dendritic cell tumor' SubClassOf 'group of disorders' + 'Dendritic cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_327290 Label: carbonic anhydrase VIII - 'carbonic anhydrase VIII' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' - 'carbonic anhydrase VIII' SubClassOf 'gene' + 'carbonic anhydrase VIII' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbonic anhydrase VIII' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'carbonic anhydrase VIII' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98288 Label: Macrophage or histiocytic tumor - 'Macrophage or histiocytic tumor' SubClassOf 'group of disorders' + 'Macrophage or histiocytic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98287 Label: Histiocytic and dendritic cell tumor - 'Histiocytic and dendritic cell tumor' SubClassOf 'group of disorders' + 'Histiocytic and dendritic cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_327294 Label: ATPase, aminophospholipid transporter, class I, type 8A, member 2 - 'ATPase, aminophospholipid transporter, class I, type 8A, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' - 'ATPase, aminophospholipid transporter, class I, type 8A, member 2' SubClassOf 'gene' + 'ATPase, aminophospholipid transporter, class I, type 8A, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, aminophospholipid transporter, class I, type 8A, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' + 'ATPase, aminophospholipid transporter, class I, type 8A, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309778 Label: Defect in V-ATPase - 'Defect in V-ATPase' SubClassOf 'group of disorders' + 'Defect in V-ATPase' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_227510 Label: Multiple system atrophy, cerebellar type - 'Multiple system atrophy, cerebellar type' SubClassOf 'clinical subtype' - 'Multiple system atrophy, cerebellar type' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple system atrophy, cerebellar type' SubClassOf 'part_of' some 'Non-hereditary degenerative ataxia' - 'Multiple system atrophy, cerebellar type' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple system atrophy, cerebellar type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple system atrophy, cerebellar type' SubClassOf 'part_of' some 'Multiple system atrophy' + 'Multiple system atrophy, cerebellar type' SubClassOf 'clinical subtype' + 'Multiple system atrophy, cerebellar type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple system atrophy, cerebellar type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-hereditary degenerative ataxia' + 'Multiple system atrophy, cerebellar type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Multiple system atrophy, cerebellar type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple system atrophy' + 'Multiple system atrophy, cerebellar type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_216675 Label: Transposition of the great arteries - 'Transposition of the great arteries' SubClassOf 'group of disorders' + 'Transposition of the great arteries' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some 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"33.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_376724 Label: Generalized isolated dystonia - 'Generalized isolated dystonia' SubClassOf 'group of disorders' + 'Generalized isolated dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317761 Label: calmodulin binding transcription activator 1 - 'calmodulin binding transcription activator 1' SubClassOf 'gene' - 'calmodulin binding transcription activator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-progressive cerebellar ataxia with intellectual disability' + 'calmodulin binding transcription activator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.31-p36.23"^^http://www.w3.org/2001/XMLSchema#string + 'calmodulin binding transcription activator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Non-progressive cerebellar ataxia with intellectual disability' + 'calmodulin binding transcription activator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406692 Label: unc-13 homolog A (C. elegans) - 'unc-13 homolog A (C. elegans)' SubClassOf 'gene' - 'unc-13 homolog A (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'unc-13 homolog A (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string + 'unc-13 homolog A (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'unc-13 homolog A (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_137754 Label: Neurological conditions associated with aminoacylase 1 deficiency - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'part_of' some 'Aminoacylase deficiency' - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'disease' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'disease' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aminoacylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_297634 Label: macrophage scavenger receptor 1 - 'macrophage scavenger receptor 1' SubClassOf 'gene' - 'macrophage scavenger receptor 1' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'macrophage scavenger receptor 1' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'macrophage scavenger receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'macrophage scavenger receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_314459 Label: Pseudo-Meigs syndrome - 'Pseudo-Meigs syndrome' SubClassOf 'clinical syndrome' - 'Pseudo-Meigs syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudo-Meigs syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudo-Meigs syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pseudo-Meigs syndrome' SubClassOf 'part_of' some 'Rare benign ovarian tumor' + 'Pseudo-Meigs syndrome' SubClassOf 'clinical syndrome' + 'Pseudo-Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' + 'Pseudo-Meigs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudo-Meigs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_309789 Label: Rhizomelic chondrodysplasia punctata type 1 - 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'part_of' some 'Rhizomelic chondrodysplasia punctata' - 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'etiological subtype' + 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_314451 Label: Meigs syndrome - 'Meigs syndrome' SubClassOf 'clinical syndrome' - 'Meigs syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Meigs syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Meigs syndrome' SubClassOf 'part_of' some 'Rare benign ovarian tumor' - 'Meigs syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Meigs syndrome' SubClassOf 'clinical syndrome' + 'Meigs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Meigs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_213716 Label: Squamous cell carcinoma of the corpus uteri - 'Squamous cell carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' - 'Squamous cell carcinoma of the corpus uteri' SubClassOf 'disease' + 'Squamous cell carcinoma of the corpus uteri' SubClassOf 'disease' + 'Squamous cell carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_213711 Label: Endometrial stromal sarcoma - 'Endometrial stromal sarcoma' SubClassOf 'disease' - 'Endometrial stromal sarcoma' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Endometrial stromal sarcoma' SubClassOf 'disease' + 'Endometrial stromal sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_317756 Label: mitochondrial tRNA translation optimization 1 - 'mitochondrial tRNA translation optimization 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' - 'mitochondrial tRNA translation optimization 1' SubClassOf 'gene' + 'mitochondrial tRNA translation optimization 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' + 'mitochondrial tRNA translation optimization 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial tRNA translation optimization 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_167901 Label: mitochondrially encoded tRNA serine 1 (UCN) - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'gene' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' Class: http://www.orpha.net/ORDO/Orphanet_276148 Label: Benign epithelial tumor of the salivary glands - 'Benign epithelial tumor of the salivary glands' SubClassOf 'part_of' some 'Salivary gland tumor' - 'Benign epithelial tumor of the salivary glands' SubClassOf 'clinical subtype' + 'Benign epithelial tumor of the salivary glands' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Salivary gland tumor' + 'Benign epithelial tumor of the salivary glands' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_270071 Label: paired related homeobox 1 - 'paired related homeobox 1' SubClassOf 'gene' - 'paired related homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Agnathia - holoprosencephaly - situs inversus' + 'paired related homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Agnathia - holoprosencephaly - situs inversus' + 'paired related homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'paired related homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276145 Label: Malignant epithelial tumor of the salivary glands - 'Malignant epithelial tumor of the salivary glands' SubClassOf 'part_of' some 'Salivary gland tumor' - 'Malignant epithelial tumor of the salivary glands' SubClassOf 'clinical subtype' + 'Malignant epithelial tumor of the salivary glands' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Salivary gland tumor' + 'Malignant epithelial tumor of the salivary glands' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_276142 Label: Salivary gland tumor - 'Salivary gland tumor' SubClassOf 'part_of' some 'Rare digestive tumor' - 'Salivary gland tumor' SubClassOf 'disease' + 'Salivary gland tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare digestive tumor' + 'Salivary gland tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122408 Label: homogentisate 1,2-dioxygenase - 'homogentisate 1,2-dioxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alkaptonuria' - 'homogentisate 1,2-dioxygenase' SubClassOf 'gene' + 'homogentisate 1,2-dioxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Alkaptonuria' + 'homogentisate 1,2-dioxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homogentisate 1,2-dioxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_239967 Label: zinc finger protein 513 - 'zinc finger protein 513' SubClassOf 'gene' - 'zinc finger protein 513' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'zinc finger protein 513' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'zinc finger protein 513' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 513' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_317747 Label: iroquois homeobox 5 - 'iroquois homeobox 5' SubClassOf 'gene' - 'iroquois homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial dysplasia-osteopenia syndrome' + 'iroquois homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'iroquois homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial dysplasia-osteopenia syndrome' + 'iroquois homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_314425 Label: Rare odontologic tumor - 'Rare odontologic tumor' SubClassOf 'group of disorders' + 'Rare odontologic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247798 Label: MUTYH-related attenuated familial adenomatous polyposis - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Attenuated familial adenomatous polyposis' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_227535 Label: Hereditary breast cancer - 'Hereditary breast cancer' SubClassOf 'part_of' some 'Genetic gynecological tumor' - 'Hereditary breast cancer' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Hereditary breast cancer' SubClassOf 'disease' + 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gynecological tumor' + 'Hereditary breast cancer' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_317743 Label: DnaJ (Hsp40) homolog, subfamily B, member 2 - 'DnaJ (Hsp40) homolog, subfamily B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset distal hereditary motor neuropathy' - 'DnaJ (Hsp40) homolog, subfamily B, member 2' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Young adult-onset distal hereditary motor neuropathy' + 'DnaJ (Hsp40) homolog, subfamily B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_213721 Label: Undifferentiated carcinoma of the corpus uteri - 'Undifferentiated carcinoma of the corpus uteri' SubClassOf 'disease' - 'Undifferentiated carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Undifferentiated carcinoma of the corpus uteri' SubClassOf 'disease' + 'Undifferentiated carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_239962 Label: family with sequence similarity 161, member A - 'family with sequence similarity 161, member A' SubClassOf 'gene' - 'family with sequence similarity 161, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'family with sequence similarity 161, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'family with sequence similarity 161, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 161, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247794 Label: Juvenile cataract - microcornea - renal glucosuria - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'part_of' some 'Syndromic cataract' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'disease' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'disease' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_314422 Label: Ameloblastic carcinoma - 'Ameloblastic carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ameloblastic carcinoma' SubClassOf 'part_of' some 'Rare odontologic tumor' - 'Ameloblastic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ameloblastic carcinoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ameloblastic carcinoma' SubClassOf 'disease' + 'Ameloblastic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ameloblastic carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ameloblastic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontologic tumor' + 'Ameloblastic carcinoma' SubClassOf 'disease' + 'Ameloblastic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_91547 Label: Relapsing fever - 'Relapsing fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Relapsing fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Relapsing fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Relapsing fever' SubClassOf 'disease' - 'Relapsing fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Relapsing fever' SubClassOf 'disease' + 'Relapsing fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Relapsing fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Relapsing fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_91546 Label: Lyme disease - 'Lyme disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Lyme disease' SubClassOf 'disease' - 'Lyme disease' SubClassOf 'part_of' some 'Infectious disease with peripheral neuropathy' - 'Lyme disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lyme disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Lyme disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Lyme disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf 'disease' + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "21.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "177.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with peripheral neuropathy' + 'Lyme disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_306708 Label: Frontotemporal neurodegeneration with movement disorder - 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'group of disorders' + 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213726 Label: Papillary carcinoma of the corpus uteri - 'Papillary carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' - 'Papillary carcinoma of the corpus uteri' SubClassOf 'disease' + 'Papillary carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' + 'Papillary carcinoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247790 Label: FTH1-related iron overload - 'FTH1-related iron overload' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'FTH1-related iron overload' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'FTH1-related iron overload' SubClassOf 'disease' - 'FTH1-related iron overload' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'FTH1-related iron overload' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'FTH1-related iron overload' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'FTH1-related iron overload' SubClassOf 'disease' + 'FTH1-related iron overload' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'FTH1-related iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'FTH1-related iron overload' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'FTH1-related iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_36899 Label: Myoclonus-dystonia syndrome - 'Myoclonus-dystonia syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Myoclonus-dystonia syndrome' SubClassOf 'disease' - 'Myoclonus-dystonia syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Myoclonus-dystonia syndrome' SubClassOf 'part_of' some 'Primary myoclonus' - 'Myoclonus-dystonia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myoclonus-dystonia syndrome' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Myoclonus-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Myoclonus-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myoclonus-dystonia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Myoclonus-dystonia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myoclonus-dystonia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Myoclonus-dystonia syndrome' SubClassOf 'disease' + 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary myoclonus' + 'Myoclonus-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myoclonus-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_285106 Label: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa - 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf 'gene' - 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odontoleukodystrophy' - 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' + 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odontoleukodystrophy' + 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (RNA) III (DNA directed) polypeptide A, 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' Class: http://www.orpha.net/ORDO/Orphanet_137776 Label: Lethal congenital contracture syndrome type 2 - 'Lethal congenital contracture syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 2' SubClassOf 'malformation syndrome' - 'Lethal congenital contracture syndrome type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 2' SubClassOf 'part_of' some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 2' SubClassOf 'malformation syndrome' + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122412 Label: heparan-alpha-glucosaminide N-acetyltransferase - 'heparan-alpha-glucosaminide N-acetyltransferase' SubClassOf 'gene' - 'heparan-alpha-glucosaminide N-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type C' + 'heparan-alpha-glucosaminide N-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heparan-alpha-glucosaminide N-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type C' + 'heparan-alpha-glucosaminide N-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276152 Label: Multiple endocrine neoplasia type 4 - 'Multiple endocrine neoplasia type 4' SubClassOf 'part_of' some 'Multiple polyglandular tumor' - 'Multiple endocrine neoplasia type 4' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiple endocrine neoplasia type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple endocrine neoplasia type 4' SubClassOf 'disease' + 'Multiple endocrine neoplasia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Multiple endocrine neoplasia type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90001 Label: X-linked cone dysfunction syndrome with myopia - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'disease' - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'part_of' some 'Syndromic myopia' - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'disease' + 'X-linked cone dysfunction syndrome with myopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked cone dysfunction syndrome with myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_90000 Label: Erythema elevatum diutinum - 'Erythema elevatum diutinum' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' - 'Erythema elevatum diutinum' SubClassOf 'disease' - 'Erythema elevatum diutinum' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Erythema elevatum diutinum' SubClassOf 'has_prevalence' some 'Unknown' + 'Erythema elevatum diutinum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Erythema elevatum diutinum' SubClassOf 'disease' + 'Erythema elevatum diutinum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Erythema elevatum diutinum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_90003 Label: Inflammatory pseudotumor of the liver - 'Inflammatory pseudotumor of the liver' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Inflammatory pseudotumor of the liver' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Inflammatory pseudotumor of the liver' SubClassOf 'disease' - 'Inflammatory pseudotumor of the liver' SubClassOf 'has_prevalence' some 'Unknown' + 'Inflammatory pseudotumor of the liver' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Inflammatory pseudotumor of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Inflammatory pseudotumor of the liver' SubClassOf 'disease' + 'Inflammatory pseudotumor of the liver' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_90002 Label: Undifferentiated connective tissue syndrome - 'Undifferentiated connective tissue syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Undifferentiated connective tissue syndrome' SubClassOf 'disease' + 'Undifferentiated connective tissue syndrome' SubClassOf 'disease' + 'Undifferentiated connective tissue syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_317739 Label: signal recognition particle 72kDa - 'signal recognition particle 72kDa' SubClassOf 'gene' - 'signal recognition particle 72kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant aplasia and myelodysplasia' + 'signal recognition particle 72kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q11"^^http://www.w3.org/2001/XMLSchema#string + 'signal recognition particle 72kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant aplasia and myelodysplasia' + 'signal recognition particle 72kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_101435 Label: Rare genetic eye disease - 'Rare genetic eye disease' SubClassOf 'group of disorders' + 'Rare genetic eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101433 Label: Rare urogenital disease - 'Rare urogenital disease' SubClassOf 'group of disorders' + 'Rare urogenital disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306712 Label: Rare tremor disorder - 'Rare tremor disorder' SubClassOf 'group of disorders' + 'Rare tremor disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314432 Label: Spigelian hernia-cryptorchidism syndrome - 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'malformation syndrome' - 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'malformation syndrome' + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_306715 Label: Rare choreic movement disorder - 'Rare choreic movement disorder' SubClassOf 'group of disorders' + 'Rare choreic movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213731 Label: Poorly differentiated endocrine carcinoma of the corpus uteri - 'Poorly differentiated endocrine carcinoma of the corpus uteri' SubClassOf 'disease' - 'Poorly differentiated endocrine carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Poorly differentiated endocrine carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' + 'Poorly differentiated endocrine carcinoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306719 Label: Neurodegenerative disease with chorea - 'Neurodegenerative disease with chorea' SubClassOf 'group of disorders' + 'Neurodegenerative disease with chorea' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_239970 Label: abhydrolase domain containing 12 - 'abhydrolase domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' - 'abhydrolase domain containing 12' SubClassOf 'gene' + 'abhydrolase domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' + 'abhydrolase domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'abhydrolase domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213736 Label: Well-differentiated endocrine neoplasm of the corpus uteri - 'Well-differentiated endocrine neoplasm of the corpus uteri' SubClassOf 'disease' - 'Well-differentiated endocrine neoplasm of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' + 'Well-differentiated endocrine neoplasm of the corpus uteri' SubClassOf 'disease' + 'Well-differentiated endocrine neoplasm of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_40923 Label: Eales disease - 'Eales disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Eales disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Eales disease' SubClassOf 'disease' - 'Eales disease' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Eales disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Eales disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Eales disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Eales disease' SubClassOf 'disease' + 'Eales disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eales disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Eales disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_276161 Label: Multiple endocrine neoplasia - 'Multiple endocrine neoplasia' SubClassOf 'group of disorders' + 'Multiple endocrine neoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple endocrine neoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia' SubClassOf 'group of disorders' + 'Multiple endocrine neoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_137783 Label: Lethal congenital contracture syndrome type 3 - 'Lethal congenital contracture syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal congenital contracture syndrome type 3' SubClassOf 'malformation syndrome' - 'Lethal congenital contracture syndrome type 3' SubClassOf 'part_of' some 'Lethal congenital contracture syndrome' - 'Lethal congenital contracture syndrome type 3' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 3' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 3' SubClassOf 'malformation syndrome' + 'Lethal congenital contracture syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122404 Label: hexosaminidase B (beta polypeptide) - 'hexosaminidase B (beta polypeptide)' SubClassOf 'gene' - 'hexosaminidase B (beta polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sandhoff disease, juvenile form' - 'hexosaminidase B (beta polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sandhoff disease, infantile form' - 'hexosaminidase B (beta polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sandhoff disease, adult form' + 'hexosaminidase B (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sandhoff disease, juvenile form' + 'hexosaminidase B (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sandhoff disease, adult form' + 'hexosaminidase B (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sandhoff disease, infantile form' + 'hexosaminidase B (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hexosaminidase B (beta polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122402 Label: hexosaminidase A (alpha polypeptide) - 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B1 variant' - 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, adult form' - 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, juvenile form' - 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, infantile form' - 'hexosaminidase A (alpha polypeptide)' SubClassOf 'gene' + 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B1 variant' + 'hexosaminidase A (alpha polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, adult form' + 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, juvenile form' + 'hexosaminidase A (alpha polypeptide)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hexosaminidase A (alpha polypeptide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tay-Sachs disease, B variant, infantile form' Class: http://www.orpha.net/ORDO/Orphanet_289601 Label: Hereditary arterial and articular multiple calcification syndrome - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'disease' - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'part_of' some 'Rare genetic vascular disease' - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic vascular disease' + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'disease' + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_123966 Label: nyctalopin - 'nyctalopin' SubClassOf 'gene' - 'nyctalopin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'nyctalopin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'nyctalopin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nyctalopin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123961 Label: neurotrophic tyrosine kinase, receptor, type 1 - 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 4' - 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' - 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5' - 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'gene' - 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5' + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary sensory and autonomic neuropathy type 4' + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurotrophic tyrosine kinase, receptor, type 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_121700 Label: Fanconi anemia, complementation group B - 'Fanconi anemia, complementation group B' SubClassOf 'Disease-causing germline mutation(s) in' some 'VACTERL with hydrocephalus' - 'Fanconi anemia, complementation group B' SubClassOf 'gene' - 'Fanconi anemia, complementation group B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'VACTERL with hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_289604 Label: 5'-nucleotidase, ecto (CD73) - '5'-nucleotidase, ecto (CD73)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary arterial and articular multiple calcification syndrome' - '5'-nucleotidase, ecto (CD73)' SubClassOf 'gene' + '5'-nucleotidase, ecto (CD73)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14-q21"^^http://www.w3.org/2001/XMLSchema#string + '5'-nucleotidase, ecto (CD73)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary arterial and articular multiple calcification syndrome' + '5'-nucleotidase, ecto (CD73)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169399 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 6' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138843 Label: leucine proline-enriched proteoglycan (leprecan) 1 - 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf 'gene' + 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' + 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine proline-enriched proteoglycan (leprecan) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_169395 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 5' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_138847 Label: cartilage associated protein - 'cartilage associated protein' SubClassOf 'gene' - 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'cartilage associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cartilage associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22"^^http://www.w3.org/2001/XMLSchema#string + 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' + 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'cartilage associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' Class: http://www.orpha.net/ORDO/Orphanet_353238 Label: oligonucleotide/oligosaccharide-binding fold containing 1 - 'oligonucleotide/oligosaccharide-binding fold containing 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'oligonucleotide/oligosaccharide-binding fold containing 1' SubClassOf 'gene' + 'oligonucleotide/oligosaccharide-binding fold containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'oligonucleotide/oligosaccharide-binding fold containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'oligonucleotide/oligosaccharide-binding fold containing 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_118326 Label: retinaldehyde binding protein 1 - 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' - 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' - 'retinaldehyde binding protein 1' SubClassOf 'gene' - 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bothnia retinal dystrophy' + 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' + 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' + 'retinaldehyde binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinaldehyde binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinaldehyde binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bothnia retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_364033 Label: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'disease' - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'has_prevalence' some 'Unknown' - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'has_inheritance' some 'sporadic' - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'disease' + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_300751 Label: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'part_of' some 'Familial dilated cardiomyopathy' - 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease' - 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial dilated cardiomyopathy' + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314404 Label: Autosomal dominant cerebellar ataxia, deafness and narcolepsy - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'disease' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'part_of' some 'Sleep disorder' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_inheritance' some 'sporadic' + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'disease' + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_353231 Label: family with sequence similarity 13, member A - 'family with sequence similarity 13, member A' SubClassOf 'gene' - 'family with sequence similarity 13, member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'family with sequence similarity 13, member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'family with sequence similarity 13, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'family with sequence similarity 13, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118329 Label: ribonuclease H2, subunit A - 'ribonuclease H2, subunit A' SubClassOf 'gene' - 'ribonuclease H2, subunit A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'ribonuclease H2, subunit A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribonuclease H2, subunit A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'ribonuclease H2, subunit A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_364039 Label: Hydroa vacciniforme-like lymphoma - 'Hydroa vacciniforme-like lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Hydroa vacciniforme-like lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Hydroa vacciniforme-like lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Hydroa vacciniforme-like lymphoma' SubClassOf 'disease' - 'Hydroa vacciniforme-like lymphoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hydroa vacciniforme-like lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Hydroa vacciniforme-like lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Hydroa vacciniforme-like lymphoma' SubClassOf 'disease' + 'Hydroa vacciniforme-like lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hydroa vacciniforme-like lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_26793 Label: Very long chain acyl-CoA dehydrogenase deficiency - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Acyl-CoA dehydrogenase deficiency' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123953 Label: 5'-nucleotidase, cytosolic IIIA - '5'-nucleotidase, cytosolic IIIA' SubClassOf 'gene' - '5'-nucleotidase, cytosolic IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' + '5'-nucleotidase, cytosolic IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.3"^^http://www.w3.org/2001/XMLSchema#string + '5'-nucleotidase, cytosolic IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5'-nucleotidase, cytosolic IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_399086 Label: Finnish upper limb-onset distal myopathy - 'Finnish upper limb-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Finnish upper limb-onset distal myopathy' SubClassOf 'disease' + 'Finnish upper limb-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Finnish upper limb-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138851 Label: caspase 8, apoptosis-related cysteine peptidase - 'caspase 8, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' - 'caspase 8, apoptosis-related cysteine peptidase' SubClassOf 'gene' + 'caspase 8, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' + 'caspase 8, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase 8, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_26790 Label: Pseudomyxoma peritonei - 'Pseudomyxoma peritonei' SubClassOf 'part_of' some 'Primary peritoneal tumor' - 'Pseudomyxoma peritonei' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudomyxoma peritonei' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pseudomyxoma peritonei' SubClassOf 'disease' + 'Pseudomyxoma peritonei' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary peritoneal tumor' + 'Pseudomyxoma peritonei' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudomyxoma peritonei' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudomyxoma peritonei' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pseudomyxoma peritonei' SubClassOf 'disease' + 'Pseudomyxoma peritonei' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_26791 Label: Multiple acyl-CoA dehydrogenase deficiency - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Acyl-CoA dehydrogenase deficiency' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26792 Label: Short chain acyl-CoA dehydrogenase deficiency - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Acyl-CoA dehydrogenase deficiency' - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118335 Label: ribonuclease H2, subunit B - 'ribonuclease H2, subunit B' SubClassOf 'gene' - 'ribonuclease H2, subunit B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'ribonuclease H2, subunit B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'ribonuclease H2, subunit B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribonuclease H2, subunit B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353241 Label: ATPase, class VI, type 11A - 'ATPase, class VI, type 11A' SubClassOf 'gene' - 'ATPase, class VI, type 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'ATPase, class VI, type 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, class VI, type 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'ATPase, class VI, type 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_208596 Label: Genetic hyperparathyroidism - 'Genetic hyperparathyroidism' SubClassOf 'group of disorders' + 'Genetic hyperparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399081 Label: KLHL9-related childhood-onset distal myopathy - 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'disease' + 'KLHL9-related childhood-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208593 Label: Genetic hypoparathyroidism - 'Genetic hypoparathyroidism' SubClassOf 'group of disorders' + 'Genetic hypoparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314419 Label: Ameloblastoma - 'Ameloblastoma' SubClassOf 'part_of' some 'Rare odontologic tumor' - 'Ameloblastoma' SubClassOf 'disease' - 'Ameloblastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Ameloblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ameloblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Ameloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ameloblastoma' SubClassOf 'disease' + 'Ameloblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ameloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_364028 Label: X-linked intellectual disability due to GRIA3 anomalies - 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'disease' - 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'disease' + 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_399096 Label: Distal anoctaminopathy - 'Distal anoctaminopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' - 'Distal anoctaminopathy' SubClassOf 'disease' + 'Distal anoctaminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' + 'Distal anoctaminopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123982 Label: oral-facial-digital syndrome 1 - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome type 2' - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'oral-facial-digital syndrome 1' SubClassOf 'gene' - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 1' + 'oral-facial-digital syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Orofaciodigital syndrome type 1' + 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome type 2' + 'oral-facial-digital syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'oral-facial-digital syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' Class: http://www.orpha.net/ORDO/Orphanet_121722 Label: Fanconi anemia, complementation group G - 'Fanconi anemia, complementation group G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'Fanconi anemia, complementation group G' SubClassOf 'gene' + 'Fanconi anemia, complementation group G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group G' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group G' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123986 Label: oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) - 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'gene' - 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oxoglutaricaciduria' Class: http://www.orpha.net/ORDO/Orphanet_261884 Label: Partial deletion of the short arm of chromosome 4 - 'Partial deletion of the short arm of chromosome 4' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118340 Label: ribonuclease H2, subunit C - 'ribonuclease H2, subunit C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'ribonuclease H2, subunit C' SubClassOf 'gene' + 'ribonuclease H2, subunit C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribonuclease H2, subunit C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'ribonuclease H2, subunit C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261875 Label: Partial deletion of the short arm of chromosome 3 - 'Partial deletion of the short arm of chromosome 3' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364055 Label: Severe early-childhood-onset retinal dystrophy - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'disease' - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe early-childhood-onset retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'disease' + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_353211 Label: anthrax toxin receptor 1 - 'anthrax toxin receptor 1' SubClassOf 'gene' - 'anthrax toxin receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GAPO syndrome' - 'anthrax toxin receptor 1' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' + 'anthrax toxin receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'GAPO syndrome' + 'anthrax toxin receptor 1' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' + 'anthrax toxin receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anthrax toxin receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118344 Label: ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) - 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf 'gene' + 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25"^^http://www.w3.org/2001/XMLSchema#string + 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_167905 Label: mitochondrially encoded tRNA serine 2 (AGU/C) - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'gene' - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118347 Label: ring finger protein 139 - 'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'ring finger protein 139' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_53540 Label: Goldmann-Favre syndrome - 'Goldmann-Favre syndrome' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Goldmann-Favre syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Goldmann-Favre syndrome' SubClassOf 'disease' - 'Goldmann-Favre syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Goldmann-Favre syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Goldmann-Favre syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Goldmann-Favre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Goldmann-Favre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Goldmann-Favre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Goldmann-Favre syndrome' SubClassOf 'disease' + 'Goldmann-Favre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Goldmann-Favre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Goldmann-Favre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_353217 Label: Epileptic encephalopathy with global cerebral demyelination - 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'disease' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_167909 Label: mitochondrially encoded tRNA phenylalanine - 'mitochondrially encoded tRNA phenylalanine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA phenylalanine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA phenylalanine' SubClassOf 'gene' + 'mitochondrially encoded tRNA phenylalanine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA phenylalanine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA phenylalanine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA phenylalanine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_121719 Label: Fanconi anemia, complementation group F - 'Fanconi anemia, complementation group F' SubClassOf 'gene' - 'Fanconi anemia, complementation group F' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group F' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group F' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group F' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_121715 Label: Fanconi anemia, complementation group E - 'Fanconi anemia, complementation group E' SubClassOf 'gene' - 'Fanconi anemia, complementation group E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group E' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22-p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_47612 Label: Felty syndrome - 'Felty syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Felty syndrome' SubClassOf 'part_of' some 'Acquired neutropenia' - 'Felty syndrome' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Felty syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Felty syndrome' SubClassOf 'disease' + 'Felty syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Felty syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Felty syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Felty syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neutropenia' + 'Felty syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123974 Label: oculocutaneous albinism II - 'oculocutaneous albinism II' SubClassOf 'gene' - 'oculocutaneous albinism II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 2' - 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' - 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' - 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' - 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'oculocutaneous albinism II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q12"^^http://www.w3.org/2001/XMLSchema#string + 'oculocutaneous albinism II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'oculocutaneous albinism II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'oculocutaneous albinism II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 2' + 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' + 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' + 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'oculocutaneous albinism II' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' Class: http://www.orpha.net/ORDO/Orphanet_289638 Label: Epstein-Barr Virus-related tumor - 'Epstein-Barr Virus-related tumor' SubClassOf 'group of disorders' + 'Epstein-Barr Virus-related tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289635 Label: Rare virus induced tumor - 'Rare virus induced tumor' SubClassOf 'group of disorders' + 'Rare virus induced tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123971 Label: ornithine aminotransferase - 'ornithine aminotransferase' SubClassOf 'gene' - 'ornithine aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gyrate atrophy of choroid and retina' + 'ornithine aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26"^^http://www.w3.org/2001/XMLSchema#string + 'ornithine aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gyrate atrophy of choroid and retina' + 'ornithine aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123978 Label: oculocerebrorenal syndrome of Lowe - 'oculocerebrorenal syndrome of Lowe' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocerebrorenal syndrome' - 'oculocerebrorenal syndrome of Lowe' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dent disease type 2' - 'oculocerebrorenal syndrome of Lowe' SubClassOf 'gene' + 'oculocerebrorenal syndrome of Lowe' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string + 'oculocerebrorenal syndrome of Lowe' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dent disease type 2' + 'oculocerebrorenal syndrome of Lowe' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'oculocerebrorenal syndrome of Lowe' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculocerebrorenal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_406645 Label: Meis homeobox 2 - 'Meis homeobox 2' SubClassOf 'Role in the phenotype of' some '15q14 microdeletion syndrome' - 'Meis homeobox 2' SubClassOf 'gene' + 'Meis homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'Meis homeobox 2' SubClassOf 'Role in the phenotype of' some '15q14 microdeletion syndrome' + 'Meis homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98203 Label: Combined dystonia - 'Combined dystonia' SubClassOf 'group of disorders' + 'Combined dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118352 Label: roundabout, axon guidance receptor, homolog 3 (Drosophila) - 'roundabout, axon guidance receptor, homolog 3 (Drosophila)' SubClassOf 'gene' - 'roundabout, axon guidance receptor, homolog 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Horizontal gaze palsy with progressive scoliosis' + 'roundabout, axon guidance receptor, homolog 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'roundabout, axon guidance receptor, homolog 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Horizontal gaze palsy with progressive scoliosis' + 'roundabout, axon guidance receptor, homolog 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261893 Label: Partial deletion of the short arm of chromosome 5 - 'Partial deletion of the short arm of chromosome 5' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364043 Label: ALK-positive large B-cell lymphoma - 'ALK-positive large B-cell lymphoma' SubClassOf 'disease' - 'ALK-positive large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'ALK-positive large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' + 'ALK-positive large B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118358 Label: retinal outer segment membrane protein 1 - 'retinal outer segment membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinal outer segment membrane protein 1' SubClassOf 'gene' + 'retinal outer segment membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal outer segment membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'retinal outer segment membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_121709 Label: Fanconi anemia, complementation group D2 - 'Fanconi anemia, complementation group D2' SubClassOf 'gene' - 'Fanconi anemia, complementation group D2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group D2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_353220 Label: Familial primary localized cutaneous amyloidosis - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'disease' - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial primary localized cutaneous amyloidosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial primary localized cutaneous amyloidosis' SubClassOf 'disease' + 'Familial primary localized cutaneous amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial primary localized cutaneous amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_121705 Label: Fanconi anemia, complementation group C - 'Fanconi anemia, complementation group C' SubClassOf 'gene' - 'Fanconi anemia, complementation group C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_406611 Label: glutathione peroxidase 4 - 'glutathione peroxidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Sedaghatian type' - 'glutathione peroxidase 4' SubClassOf 'gene' + 'glutathione peroxidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutathione peroxidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Sedaghatian type' + 'glutathione peroxidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_327283 Label: glutamate receptor, metabotropic 1 - 'glutamate receptor, metabotropic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' - 'glutamate receptor, metabotropic 1' SubClassOf 'Part of a fusion gene in' some 'Chondromyxoid fibroma' - 'glutamate receptor, metabotropic 1' SubClassOf 'gene' + 'glutamate receptor, metabotropic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' + 'glutamate receptor, metabotropic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, metabotropic 1' SubClassOf 'Part of a fusion gene in' some 'Chondromyxoid fibroma' + 'glutamate receptor, metabotropic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122470 Label: 4-hydroxyphenylpyruvate dioxygenase - '4-hydroxyphenylpyruvate dioxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 3' - '4-hydroxyphenylpyruvate dioxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hawkinsinuria' - '4-hydroxyphenylpyruvate dioxygenase' SubClassOf 'gene' + '4-hydroxyphenylpyruvate dioxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tyrosinemia type 3' + '4-hydroxyphenylpyruvate dioxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '4-hydroxyphenylpyruvate dioxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + '4-hydroxyphenylpyruvate dioxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hawkinsinuria' Class: http://www.orpha.net/ORDO/Orphanet_99361 Label: Familial medullary thyroid carcinoma - 'Familial medullary thyroid carcinoma' SubClassOf 'part_of' some 'Multiple endocrine neoplasia type 2' - 'Familial medullary thyroid carcinoma' SubClassOf 'clinical subtype' - 'Familial medullary thyroid carcinoma' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial medullary thyroid carcinoma' SubClassOf 'clinical subtype' + 'Familial medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple endocrine neoplasia type 2' + 'Familial medullary thyroid carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_121740 Label: Fas ligand (TNF superfamily, member 6) - 'Fas ligand (TNF superfamily, member 6)' SubClassOf 'gene' - 'Fas ligand (TNF superfamily, member 6)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'Fas ligand (TNF superfamily, member 6)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'Fas ligand (TNF superfamily, member 6)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23"^^http://www.w3.org/2001/XMLSchema#string + 'Fas ligand (TNF superfamily, member 6)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289644 Label: Epstein-Barr virus-associated malignant lymphoproliferative disorder - 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' SubClassOf 'group of disorders' + 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264580 Label: Glycogen storage disease due to liver phosphorylase kinase deficiency - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to phosphorylase kinase deficiency' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_270002 Label: intraflagellar transport 43 - 'intraflagellar transport 43' SubClassOf 'gene' - 'intraflagellar transport 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' + 'intraflagellar transport 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'intraflagellar transport 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_122476 Label: hypoxanthine phosphoribosyltransferase 1 - 'hypoxanthine phosphoribosyltransferase 1' SubClassOf 'gene' - 'hypoxanthine phosphoribosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lesch-Nyhan syndrome' - 'hypoxanthine phosphoribosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' + 'hypoxanthine phosphoribosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lesch-Nyhan syndrome' + 'hypoxanthine phosphoribosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.2"^^http://www.w3.org/2001/XMLSchema#string + 'hypoxanthine phosphoribosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hypoxanthine phosphoribosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_177107 Label: Syndromic hypothyroidism - 'Syndromic hypothyroidism' SubClassOf 'group of disorders' + 'Syndromic hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_177101 Label: Rare adult hypothyroidism - 'Rare adult hypothyroidism' SubClassOf 'group of disorders' + 'Rare adult hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261857 Label: Partial deletion of the short arm of chromosome 1 - 'Partial deletion of the short arm of chromosome 1' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_327288 Label: WD repeat domain 81 - 'WD repeat domain 81' SubClassOf 'gene' - 'WD repeat domain 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' + 'WD repeat domain 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysequilibrium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353277 Label: Rubinstein-Taybi syndrome due to CREBBP mutations - 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'part_of' some 'Rubinstein-Taybi syndrome' - 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rubinstein-Taybi syndrome' + 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_406620 Label: chloride intracellular channel 5 - 'chloride intracellular channel 5' SubClassOf 'gene' - 'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'chloride intracellular channel 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'chloride intracellular channel 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_71493 Label: Familial thrombocytosis - 'Familial thrombocytosis' SubClassOf 'disease' - 'Familial thrombocytosis' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a constitutional platelet anomaly' - 'Familial thrombocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial thrombocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial thrombocytosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial thrombocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial thrombocytosis' SubClassOf 'disease' + 'Familial thrombocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial thrombocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a constitutional platelet anomaly' + 'Familial thrombocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial thrombocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial thrombocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_122462 Label: homeobox A13 - 'homeobox A13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guttmacher syndrome' - 'homeobox A13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hand-foot-genital syndrome' - 'homeobox A13' SubClassOf 'gene' + 'homeobox A13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox A13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guttmacher syndrome' + 'homeobox A13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hand-foot-genital syndrome' + 'homeobox A13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289651 Label: Epstein-Barr Virus-associated carcinoma - 'Epstein-Barr Virus-associated carcinoma' SubClassOf 'group of disorders' + 'Epstein-Barr Virus-associated carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289656 Label: Epstein-Barr Virus-associated mesenchymal tumor - 'Epstein-Barr Virus-associated mesenchymal tumor' SubClassOf 'group of disorders' + 'Epstein-Barr Virus-associated mesenchymal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121730 Label: Fanconi anemia, complementation group M - 'Fanconi anemia, complementation group M' SubClassOf 'gene' - 'Fanconi anemia, complementation group M' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group M' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group M' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group M' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_123996 Label: optic atrophy 1 (autosomal dominant) - 'optic atrophy 1 (autosomal dominant)' SubClassOf 'gene' - 'optic atrophy 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy, classic type' - 'optic atrophy 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' + 'optic atrophy 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy, classic type' + 'optic atrophy 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'optic atrophy 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' + 'optic atrophy 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121733 Label: Fas cell surface death receptor - 'Fas cell surface death receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' - 'Fas cell surface death receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' - 'Fas cell surface death receptor' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'Fas cell surface death receptor' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'Fas cell surface death receptor' SubClassOf 'gene' + 'Fas cell surface death receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'Fas cell surface death receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'Fas cell surface death receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'Fas cell surface death receptor' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'Fas cell surface death receptor' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'Fas cell surface death receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122466 Label: homeobox D13 - 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type E' - 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 5' - 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zygodactyly type 3' - 'homeobox D13' SubClassOf 'Major susceptibility factor in' some 'VACTERL/VATER association' - 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synpolydactyly type 1' - 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly-syndactyly, Zhao type' - 'homeobox D13' SubClassOf 'gene' + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type E' + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 5' + 'homeobox D13' SubClassOf 'Major susceptibility factor in' some 'VACTERL/VATER association' + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zygodactyly type 3' + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synpolydactyly type 1' + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly-syndactyly, Zhao type' + 'homeobox D13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox D13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_353284 Label: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'part_of' some 'Rubinstein-Taybi syndrome' - 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rubinstein-Taybi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139802 Label: family with sequence similarity 83, member H - 'family with sequence similarity 83, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' - 'family with sequence similarity 83, member H' SubClassOf 'gene' + 'family with sequence similarity 83, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' + 'family with sequence similarity 83, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 83, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121726 Label: Fanconi anemia, complementation group L - 'Fanconi anemia, complementation group L' SubClassOf 'gene' - 'Fanconi anemia, complementation group L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'Fanconi anemia, complementation group L' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'Fanconi anemia, complementation group L' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fanconi anemia, complementation group L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_353281 Label: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'clinical subtype' - 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'part_of' some 'Rubinstein-Taybi syndrome' + 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rubinstein-Taybi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_243367 Label: Acute fatty liver of pregnancy - 'Acute fatty liver of pregnancy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute fatty liver of pregnancy' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Acute fatty liver of pregnancy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Acute fatty liver of pregnancy' SubClassOf 'disease' - 'Acute fatty liver of pregnancy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acute fatty liver of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Acute fatty liver of pregnancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute fatty liver of pregnancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute fatty liver of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Acute fatty liver of pregnancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_261866 Label: Partial deletion of the short arm of chromosome 2 - 'Partial deletion of the short arm of chromosome 2' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98255 Label: Chronic encephalitis - 'Chronic encephalitis' SubClassOf 'group of disorders' + 'Chronic encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289661 Label: Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly - 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'disease' + 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'disease' + 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_122492 Label: Hermansky-Pudlak syndrome 6 - 'Hermansky-Pudlak syndrome 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' - 'Hermansky-Pudlak syndrome 6' SubClassOf 'gene' + 'Hermansky-Pudlak syndrome 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'Hermansky-Pudlak syndrome 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Hermansky-Pudlak syndrome 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_98253 Label: Postinfectious encephalitis - 'Postinfectious encephalitis' SubClassOf 'group of disorders' + 'Postinfectious encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122490 Label: Hermansky-Pudlak syndrome 5 - 'Hermansky-Pudlak syndrome 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' - 'Hermansky-Pudlak syndrome 5' SubClassOf 'gene' + 'Hermansky-Pudlak syndrome 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Hermansky-Pudlak syndrome 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' + 'Hermansky-Pudlak syndrome 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98259 Label: Childhood-onset epilepsy syndrome - 'Childhood-onset epilepsy syndrome' SubClassOf 'group of disorders' + 'Childhood-onset epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122495 Label: hair growth associated - 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrichia with papular lesions' - 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' - 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alopecia universalis' - 'hair growth associated' SubClassOf 'gene' + 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrichia with papular lesions' + 'hair growth associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p12"^^http://www.w3.org/2001/XMLSchema#string + 'hair growth associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' + 'hair growth associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alopecia universalis' Class: http://www.orpha.net/ORDO/Orphanet_261841 Label: Partial deletion of chromosome 19 - 'Partial deletion of chromosome 19' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98257 Label: Neonatal epilepsy syndrome - 'Neonatal epilepsy syndrome' SubClassOf 'group of disorders' + 'Neonatal epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98258 Label: Infantile epilepsy syndrome - 'Infantile epilepsy syndrome' SubClassOf 'group of disorders' + 'Infantile epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_308222 Label: teneurin transmembrane protein 3 - 'teneurin transmembrane protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'teneurin transmembrane protein 3' SubClassOf 'gene' + 'teneurin transmembrane protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string + 'teneurin transmembrane protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'teneurin transmembrane protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_138820 Label: motor neuron and pancreas homeobox 1 - 'motor neuron and pancreas homeobox 1' SubClassOf 'gene' - 'motor neuron and pancreas homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Currarino triad' + 'motor neuron and pancreas homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'motor neuron and pancreas homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36"^^http://www.w3.org/2001/XMLSchema#string + 'motor neuron and pancreas homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Currarino triad' Class: http://www.orpha.net/ORDO/Orphanet_122499 Label: Harvey rat sarcoma viral oncogene homolog - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Linear nevus sebaceus syndrome' - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Phakomatosis pigmentokeratotica' - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'gene' - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Costello syndrome' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Linear nevus sebaceus syndrome' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Phakomatosis pigmentokeratotica' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98252 Label: Infectious encephalitis - 'Infectious encephalitis' SubClassOf 'group of disorders' + 'Infectious encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121763 Label: fructose-1,6-bisphosphatase 1 - 'fructose-1,6-bisphosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fructose-1,6-bisphosphatase deficiency' - 'fructose-1,6-bisphosphatase 1' SubClassOf 'gene' + 'fructose-1,6-bisphosphatase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fructose-1,6-bisphosphatase deficiency' + 'fructose-1,6-bisphosphatase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'fructose-1,6-bisphosphatase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399058 Label: Alpha-B crystallin-related late-onset distal myopathy - 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'disease' + 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121760 Label: fibrillin 2 - 'fibrillin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital contractural arachnodactyly' - 'fibrillin 2' SubClassOf 'gene' + 'fibrillin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23-q31"^^http://www.w3.org/2001/XMLSchema#string + 'fibrillin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital contractural arachnodactyly' + 'fibrillin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289666 Label: Plasmablastic lymphoma - 'Plasmablastic lymphoma' SubClassOf 'disease' - 'Plasmablastic lymphoma' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'Plasmablastic lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Plasmablastic lymphoma' SubClassOf 'disease' + 'Plasmablastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Plasmablastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_353250 Label: dipeptidyl-peptidase 9 - 'dipeptidyl-peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'dipeptidyl-peptidase 9' SubClassOf 'gene' + 'dipeptidyl-peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'dipeptidyl-peptidase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dipeptidyl-peptidase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_270019 Label: centrosomal protein 57kDa - 'centrosomal protein 57kDa' SubClassOf 'gene' - 'centrosomal protein 57kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'centrosomal protein 57kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 57kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'centrosomal protein 57kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118307 Label: Rh-associated glycoprotein - 'Rh-associated glycoprotein' SubClassOf 'gene' - 'Rh-associated glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overhydrated hereditary stomatocytosis' - 'Rh-associated glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' + 'Rh-associated glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'Rh-associated glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overhydrated hereditary stomatocytosis' + 'Rh-associated glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' + 'Rh-associated glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_364013 Label: Immune hydrops fetalis - 'Immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Immune hydrops fetalis' SubClassOf 'has_prevalence' some 'Unknown' - 'Immune hydrops fetalis' SubClassOf 'part_of' some 'Hydrops fetalis' - 'Immune hydrops fetalis' SubClassOf 'clinical subtype' + 'Immune hydrops fetalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immune hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hydrops fetalis' + 'Immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Immune hydrops fetalis' SubClassOf 'clinical subtype' + 'Immune hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_244400 Label: serine palmitoyltransferase, long chain base subunit 2 - 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf 'gene' - 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' Class: http://www.orpha.net/ORDO/Orphanet_118301 Label: regulator of G protein signaling 9 binding protein - 'regulator of G protein signaling 9 binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' - 'regulator of G protein signaling 9 binding protein' SubClassOf 'gene' + 'regulator of G protein signaling 9 binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string + 'regulator of G protein signaling 9 binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulator of G protein signaling 9 binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' Class: http://www.orpha.net/ORDO/Orphanet_261831 Label: Partial deletion of chromosome 17 - 'Partial deletion of chromosome 17' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244406 Label: WD repeat domain 11 - 'WD repeat domain 11' SubClassOf 'gene' - 'WD repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'WD repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'WD repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'WD repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_261836 Label: Partial deletion of chromosome 18 - 'Partial deletion of chromosome 18' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_53583 Label: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'part_of' some 'Paroxysmal dystonia' - 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'disease' + 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'disease' + 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_158124 Label: Genetic dementia - 'Genetic dementia' SubClassOf 'group of disorders' + 'Genetic dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122480 Label: Hermansky-Pudlak syndrome 1 - 'Hermansky-Pudlak syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with pulmonary fibrosis' - 'Hermansky-Pudlak syndrome 1' SubClassOf 'gene' + 'Hermansky-Pudlak syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.1-q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'Hermansky-Pudlak syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Hermansky-Pudlak syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with pulmonary fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_122483 Label: Hermansky-Pudlak syndrome 3 - 'Hermansky-Pudlak syndrome 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' - 'Hermansky-Pudlak syndrome 3' SubClassOf 'gene' + 'Hermansky-Pudlak syndrome 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome without pulmonary fibrosis' + 'Hermansky-Pudlak syndrome 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'Hermansky-Pudlak syndrome 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98249 Label: Ehlers-Danlos syndrome - 'Ehlers-Danlos syndrome' SubClassOf 'group of disorders' + 'Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome' SubClassOf 'group of disorders' + 'Ehlers-Danlos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_270014 Label: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A - 'dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A' SubClassOf 'gene' + 'dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122486 Label: Hermansky-Pudlak syndrome 4 - 'Hermansky-Pudlak syndrome 4' SubClassOf 'gene' - 'Hermansky-Pudlak syndrome 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with pulmonary fibrosis' + 'Hermansky-Pudlak syndrome 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'Hermansky-Pudlak syndrome 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with pulmonary fibrosis' + 'Hermansky-Pudlak syndrome 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_138831 Label: actin, alpha 2, smooth muscle, aorta - 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multisystemic smooth muscle dysfunction syndrome' - 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'gene' - 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Major susceptibility factor in' some 'Moyamoya disease' + 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multisystemic smooth muscle dysfunction syndrome' + 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Major susceptibility factor in' some 'Moyamoya disease' + 'actin, alpha 2, smooth muscle, aorta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, alpha 2, smooth muscle, aorta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121752 Label: fibrillin 1 - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stiff skin syndrome' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' - 'fibrillin 1' SubClassOf 'Major susceptibility factor in' some 'Shprintzen-Goldberg syndrome' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal Marfan syndrome' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromicric dysplasia' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeroid and marfanoid aspect-lipodystrophy syndrome' - 'fibrillin 1' SubClassOf 'gene' - 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marfan syndrome type 1' + 'fibrillin 1' SubClassOf 'Major susceptibility factor in' some 'Shprintzen-Goldberg syndrome' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal Marfan syndrome' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromicric dysplasia' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'fibrillin 1' SubClassOf 'Candidate gene tested in' some 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' + 'fibrillin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stiff skin syndrome' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeroid and marfanoid aspect-lipodystrophy syndrome' + 'fibrillin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibrillin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marfan syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_118319 Label: regulating synaptic membrane exocytosis 1 - 'regulating synaptic membrane exocytosis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'regulating synaptic membrane exocytosis 1' SubClassOf 'gene' + 'regulating synaptic membrane exocytosis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'regulating synaptic membrane exocytosis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulating synaptic membrane exocytosis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q12-q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_270009 Label: immunoglobulin kappa constant - 'immunoglobulin kappa constant' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' - 'immunoglobulin kappa constant' SubClassOf 'gene' + 'immunoglobulin kappa constant' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' + 'immunoglobulin kappa constant' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin kappa constant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121746 Label: fibulin 5 - 'fibulin 5' SubClassOf 'gene' - 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 1' - 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cutis laxa' - 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensorimotor neuropathy with hyperelastic skin' + 'fibulin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31"^^http://www.w3.org/2001/XMLSchema#string + 'fibulin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 1' + 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cutis laxa' + 'fibulin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensorimotor neuropathy with hyperelastic skin' Class: http://www.orpha.net/ORDO/Orphanet_118311 Label: Rh blood group, CcEe antigens - 'Rh blood group, CcEe antigens' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' - 'Rh blood group, CcEe antigens' SubClassOf 'gene' + 'Rh blood group, CcEe antigens' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rh blood group, CcEe antigens' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rh deficiency syndrome' + 'Rh blood group, CcEe antigens' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_243343 Label: Dimethylglycine dehydrogenase deficiency - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'part_of' some 'Disorder of serine or glycine metabolism' - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'disease' + 'Dimethylglycine dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'disease' + 'Dimethylglycine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of serine or glycine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_118315 Label: rhodopsin - 'rhodopsin' SubClassOf 'gene' - 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' - 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'rhodopsin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'rhodopsin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21-q24"^^http://www.w3.org/2001/XMLSchema#string + 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' + 'rhodopsin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_138829 Label: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit' SubClassOf 'gene' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261846 Label: Partial deletion of chromosome 20 - 'Partial deletion of chromosome 20' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178814 Label: tachykinin 3 - 'tachykinin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'tachykinin 3' SubClassOf 'gene' + 'tachykinin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tachykinin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q21"^^http://www.w3.org/2001/XMLSchema#string + 'tachykinin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_261947 Label: Partial deletion of the short arm of chromosome 11 - 'Partial deletion of the short arm of chromosome 11' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178819 Label: tachykinin receptor 3 - 'tachykinin receptor 3' SubClassOf 'gene' - 'tachykinin receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'tachykinin receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'tachykinin receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tachykinin receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'tachykinin receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'tachykinin receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352596 Label: Progressive myoclonic epilepsy with dystonia - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'disease' - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'disease' + 'Progressive myoclonic epilepsy with dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive myoclonic epilepsy with dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Progressive myoclonic epilepsy with dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294973 Label: Humeral agenesis/hypoplasia - 'Humeral agenesis/hypoplasia' SubClassOf 'morphological anomaly' - 'Humeral agenesis/hypoplasia' SubClassOf 'part_of' some 'Non-syndromic limb reduction defect' + 'Humeral agenesis/hypoplasia' SubClassOf 'morphological anomaly' + 'Humeral agenesis/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_294971 Label: Tetra-amelia - 'Tetra-amelia' SubClassOf 'morphological anomaly' - 'Tetra-amelia' SubClassOf 'part_of' some 'Amelia' + 'Tetra-amelia' SubClassOf 'morphological anomaly' + 'Tetra-amelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia' Class: http://www.orpha.net/ORDO/Orphanet_294969 Label: Amelia of lower limb - 'Amelia of lower limb' SubClassOf 'morphological anomaly' - 'Amelia of lower limb' SubClassOf 'part_of' some 'Amelia' + 'Amelia of lower limb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia' + 'Amelia of lower limb' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_279894 Label: Toxic maculopathy due to antimalarial drugs - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'has_inheritance' some 'sporadic' - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'has_prevalence' some 'Unknown' - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'disease' + 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic maculopathy due to antimalarial drugs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169446 Label: Autosomal recessive hyper-IgE syndrome - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'group of disorders' - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgE syndrome' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_294967 Label: Amelia of upper limb - 'Amelia of upper limb' SubClassOf 'part_of' some 'Amelia' - 'Amelia of upper limb' SubClassOf 'morphological anomaly' + 'Amelia of upper limb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia' + 'Amelia of upper limb' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121775 Label: fukutin - 'fukutin' SubClassOf 'gene' - 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2M' - 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' - 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Fukuyama type' + 'fukutin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2M' + 'fukutin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fukutin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31-q33"^^http://www.w3.org/2001/XMLSchema#string + 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'fukutin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_279891 Label: Chronic endophthalmitis - 'Chronic endophthalmitis' SubClassOf 'part_of' some 'Endophthalmitis' - 'Chronic endophthalmitis' SubClassOf 'clinical subtype' + 'Chronic endophthalmitis' SubClassOf 'clinical subtype' + 'Chronic endophthalmitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic endophthalmitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endophthalmitis' Class: http://www.orpha.net/ORDO/Orphanet_294965 Label: Lethal congenital contracture syndrome - 'Lethal congenital contracture syndrome' SubClassOf 'group of disorders' + 'Lethal congenital contracture syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294963 Label: Popliteal pterygium syndrome - 'Popliteal pterygium syndrome' SubClassOf 'group of disorders' + 'Popliteal pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Popliteal pterygium syndrome' SubClassOf 'group of disorders' + 'Popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Popliteal pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_121770 Label: F-box and WD repeat domain containing 4 - 'F-box and WD repeat domain containing 4' SubClassOf 'gene' - 'F-box and WD repeat domain containing 4' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' + 'F-box and WD repeat domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'F-box and WD repeat domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'F-box and WD repeat domain containing 4' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_169443 Label: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells - 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'group of disorders' + 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_279897 Label: Primary oculocerebral lymphoma - 'Primary oculocerebral lymphoma' SubClassOf 'disease' - 'Primary oculocerebral lymphoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Primary oculocerebral lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary oculocerebral lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary oculocerebral lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary oculocerebral lymphoma' SubClassOf 'part_of' some 'Rare nervous system tumor' - 'Primary oculocerebral lymphoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Primary oculocerebral lymphoma' SubClassOf 'disease' + 'Primary oculocerebral lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' + 'Primary oculocerebral lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_178822 Label: THAP domain containing, apoptosis associated protein 1 - 'THAP domain containing, apoptosis associated protein 1' SubClassOf 'gene' - 'THAP domain containing, apoptosis associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT6 type' + 'THAP domain containing, apoptosis associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'THAP domain containing, apoptosis associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT6 type' + 'THAP domain containing, apoptosis associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_88639 Label: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'disease' - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'disease' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178826 Label: spermatogenesis associated 7 - 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' - 'spermatogenesis associated 7' SubClassOf 'gene' + 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'spermatogenesis associated 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'spermatogenesis associated 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'spermatogenesis associated 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88637 Label: Hypomyelination - hypogonadotropic hypogonadism - hypodontia - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'disease' - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'part_of' some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'disease' + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178829 Label: auditory neuropathy, X-linked recessive 1 - 'auditory neuropathy, X-linked recessive 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hereditary sensory and autonomic neuropathy with deafness' - 'auditory neuropathy, X-linked recessive 1' SubClassOf 'gene' + 'auditory neuropathy, X-linked recessive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23-q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'auditory neuropathy, X-linked recessive 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hereditary sensory and autonomic neuropathy with deafness' + 'auditory neuropathy, X-linked recessive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_139795 Label: Usher syndrome 1E (autosomal recessive, severe) - 'Usher syndrome 1E (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'Usher syndrome 1E (autosomal recessive, severe)' SubClassOf 'gene' + 'Usher syndrome 1E (autosomal recessive, severe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'Usher syndrome 1E (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'Usher syndrome 1E (autosomal recessive, severe)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_352587 Label: Focal epilepsy - intellectual disability - cerebro-cerebellar malformation - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'disease' + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'disease' + 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_294981 Label: Congenital absence of both lower leg and foot - 'Congenital absence of both lower leg and foot' SubClassOf 'morphological anomaly' - 'Congenital absence of both lower leg and foot' SubClassOf 'part_of' some 'Terminal limb defects' + 'Congenital absence of both lower leg and foot' SubClassOf 'morphological anomaly' + 'Congenital absence of both lower leg and foot' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Terminal limb defects' Class: http://www.orpha.net/ORDO/Orphanet_261938 Label: Partial deletion of the short arm of chromosome 10 - 'Partial deletion of the short arm of chromosome 10' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_357332 Label: Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes - 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'malformation syndrome' - 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'malformation syndrome' + 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_247815 Label: Autosomal recessive ataxia due to PEX10 deficiency - 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'disease' + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352582 Label: Familial infantile myoclonic epilepsy - 'Familial infantile myoclonic epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial infantile myoclonic epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial infantile myoclonic epilepsy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Familial infantile myoclonic epilepsy' SubClassOf 'disease' - 'Familial infantile myoclonic epilepsy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Familial infantile myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial infantile myoclonic epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Familial infantile myoclonic epilepsy' SubClassOf 'disease' + 'Familial infantile myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Familial infantile myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial infantile myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_294983 Label: Acheiria - 'Acheiria' SubClassOf 'morphological anomaly' - 'Acheiria' SubClassOf 'part_of' some 'Terminal limb defects' + 'Acheiria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Terminal limb defects' + 'Acheiria' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_294979 Label: Congenital absence of both forearm and hand - 'Congenital absence of both forearm and hand' SubClassOf 'morphological anomaly' - 'Congenital absence of both forearm and hand' SubClassOf 'part_of' some 'Terminal limb defects' + 'Congenital absence of both forearm and hand' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Terminal limb defects' + 'Congenital absence of both forearm and hand' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_279882 Label: Spasmus nutans - 'Spasmus nutans' SubClassOf 'has_prevalence' some 'Unknown' - 'Spasmus nutans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spasmus nutans' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Spasmus nutans' SubClassOf 'clinical syndrome' + 'Spasmus nutans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Spasmus nutans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spasmus nutans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Spasmus nutans' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308166 Label: Erythrokeratoderma variabilis progressiva - 'Erythrokeratoderma variabilis progressiva' SubClassOf 'group of disorders' + 'Erythrokeratoderma variabilis progressiva' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121786 Label: fibrinogen alpha chain - 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' - 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' - 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' - 'fibrinogen alpha chain' SubClassOf 'gene' - 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' - 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' + 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' + 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' + 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' + 'fibrinogen alpha chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28"^^http://www.w3.org/2001/XMLSchema#string + 'fibrinogen alpha chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' + 'fibrinogen alpha chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' Class: http://www.orpha.net/ORDO/Orphanet_121788 Label: fibrinogen beta chain - 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' - 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' - 'fibrinogen beta chain' SubClassOf 'gene' - 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' - 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' + 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' + 'fibrinogen beta chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28"^^http://www.w3.org/2001/XMLSchema#string + 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' + 'fibrinogen beta chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' + 'fibrinogen beta chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' Class: http://www.orpha.net/ORDO/Orphanet_294975 Label: Congenital absence of upper arm and forearm with hand present - 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'morphological anomaly' - 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'part_of' some 'Intercalary limb defects' + 'Congenital absence of upper arm and forearm with hand present' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intercalary limb defects' + 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_294977 Label: Congenital absence of thigh and lower leg with foot present - 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'morphological anomaly' - 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'part_of' some 'Intercalary limb defects' + 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'morphological anomaly' + 'Congenital absence of thigh and lower leg with foot present' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_247806 Label: APC-related attenuated familial adenomatous polyposis - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'APC-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Attenuated familial adenomatous polyposis' + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_121784 Label: ferrochelatase - 'ferrochelatase' SubClassOf 'gene' - 'ferrochelatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythropoietic protoporphyria' + 'ferrochelatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.2-q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'ferrochelatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ferrochelatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythropoietic protoporphyria' Class: http://www.orpha.net/ORDO/Orphanet_88642 Label: Channelopathy-associated congenital insensitivity to pain - 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'disease' + 'Channelopathy-associated congenital insensitivity to pain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Channelopathy-associated congenital insensitivity to pain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'disease' + 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_36913 Label: Autoimmune hypoparathyroidism - 'Autoimmune hypoparathyroidism' SubClassOf 'disease' - 'Autoimmune hypoparathyroidism' SubClassOf 'part_of' some 'Rare hypoparathyroidism' + 'Autoimmune hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoparathyroidism' + 'Autoimmune hypoparathyroidism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88643 Label: Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay - 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'disease' - 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'part_of' some 'Syndromic hypothyroidism' + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'disease' + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_279888 Label: Acute endophthalmitis - 'Acute endophthalmitis' SubClassOf 'clinical subtype' - 'Acute endophthalmitis' SubClassOf 'part_of' some 'Endophthalmitis' + 'Acute endophthalmitis' SubClassOf 'clinical subtype' + 'Acute endophthalmitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endophthalmitis' + 'Acute endophthalmitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_88644 Label: Autosomal recessive ataxia, Beauce type - 'Autosomal recessive ataxia, Beauce type' SubClassOf 'disease' - 'Autosomal recessive ataxia, Beauce type' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Autosomal recessive ataxia, Beauce type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive ataxia, Beauce type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive ataxia, Beauce type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal recessive ataxia, Beauce type' SubClassOf 'disease' + 'Autosomal recessive ataxia, Beauce type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive ataxia, Beauce type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive ataxia, Beauce type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive ataxia, Beauce type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_316244 Label: Partial deletion of the short arm of chromosome 12 - 'Partial deletion of the short arm of chromosome 12' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 12' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_88629 Label: Tritanopia - 'Tritanopia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Tritanopia' SubClassOf 'part_of' some 'Color-vision disease' - 'Tritanopia' SubClassOf 'disease' - 'Tritanopia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tritanopia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Tritanopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tritanopia' SubClassOf 'disease' + 'Tritanopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tritanopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tritanopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tritanopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Color-vision disease' Class: http://www.orpha.net/ORDO/Orphanet_218040 Label: RNA binding motif protein 20 - 'RNA binding motif protein 20' SubClassOf 'gene' - 'RNA binding motif protein 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'RNA binding motif protein 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RNA binding motif protein 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_218045 Label: dynein, axonemal, assembly factor 1 - 'dynein, axonemal, assembly factor 1' SubClassOf 'gene' - 'dynein, axonemal, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_88628 Label: Posterior column ataxia - retinitis pigmentosa - 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'disease' - 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Posterior column ataxia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Posterior column ataxia - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352577 Label: Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'disease' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'disease' + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_261920 Label: Partial deletion of the short arm of chromosome 8 - 'Partial deletion of the short arm of chromosome 8' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_46059 Label: Lathosterolosis - 'Lathosterolosis' SubClassOf 'disease' - 'Lathosterolosis' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'Lathosterolosis' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Lathosterolosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lathosterolosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lathosterolosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lathosterolosis' SubClassOf 'disease' + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Lathosterolosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lathosterolosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'Lathosterolosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lathosterolosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_261929 Label: Partial deletion of the short arm of chromosome 9 - 'Partial deletion of the short arm of chromosome 9' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294951 Label: Congenital joint dislocations - 'Congenital joint dislocations' SubClassOf 'group of disorders' + 'Congenital joint dislocations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294944 Label: Congenital deformities of limbs - 'Congenital deformities of limbs' SubClassOf 'group of disorders' + 'Congenital deformities of limbs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121796 Label: fibroblast growth factor 14 - 'fibroblast growth factor 14' SubClassOf 'gene' - 'fibroblast growth factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 27' + 'fibroblast growth factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 27' Class: http://www.orpha.net/ORDO/Orphanet_294942 Label: Postaxial polydactyly of fingers - 'Postaxial polydactyly of fingers' SubClassOf 'group of disorders' + 'Postaxial polydactyly of fingers' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121794 Label: fibroblast growth factor 10 - 'fibroblast growth factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aplasia of lacrimal and salivary glands' - 'fibroblast growth factor 10' SubClassOf 'gene' - 'fibroblast growth factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' + 'fibroblast growth factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aplasia of lacrimal and salivary glands' + 'fibroblast growth factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13-p12"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294947 Label: Congenital deformities of fingers - 'Congenital deformities of fingers' SubClassOf 'group of disorders' + 'Congenital deformities of fingers' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_88632 Label: Familial ocular anterior segment mesenchymal dysgenesis - 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'malformation syndrome' + 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178801 Label: serine peptidase inhibitor, Kunitz type, 2 - 'serine peptidase inhibitor, Kunitz type, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sodium diarrhea' - 'serine peptidase inhibitor, Kunitz type, 2' SubClassOf 'gene' + 'serine peptidase inhibitor, Kunitz type, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sodium diarrhea' + 'serine peptidase inhibitor, Kunitz type, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'serine peptidase inhibitor, Kunitz type, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88633 Label: Superior limbic keratoconjunctivitis - 'Superior limbic keratoconjunctivitis' SubClassOf 'disease' - 'Superior limbic keratoconjunctivitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' + 'Superior limbic keratoconjunctivitis' SubClassOf 'disease' + 'Superior limbic keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' Class: http://www.orpha.net/ORDO/Orphanet_218049 Label: trafficking protein particle complex 9 - 'trafficking protein particle complex 9' SubClassOf 'gene' - 'trafficking protein particle complex 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability - obesity - brain malformations - facial dysmorphism' - 'trafficking protein particle complex 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'trafficking protein particle complex 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic intellectual disability' + 'trafficking protein particle complex 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intellectual disability - obesity - brain malformations - facial dysmorphism' + 'trafficking protein particle complex 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'trafficking protein particle complex 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88635 Label: Myopathy due to calsequestrin and SERCA1 protein overload - 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' - 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein SERCA1' - 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'disease' - 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' + 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein SERCA1' + 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'disease' + 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_294949 Label: Joint formation defects - 'Joint formation defects' SubClassOf 'group of disorders' + 'Joint formation defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_316240 Label: Autosomal recessive spastic ataxia - 'Autosomal recessive spastic ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive spastic ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139780 Label: transmembrane protease, serine 6 - 'transmembrane protease, serine 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'IRIDA syndrome' - 'transmembrane protease, serine 6' SubClassOf 'gene' + 'transmembrane protease, serine 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protease, serine 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'IRIDA syndrome' + 'transmembrane protease, serine 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_88630 Label: Terminal osseous dysplasia - pigmentary defects - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'malformation syndrome' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'part_of' some 'Filamin-related bone disorder' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'malformation syndrome' + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Terminal osseous dysplasia - pigmentary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_121790 Label: FYVE, RhoGEF and PH domain containing 1 - 'FYVE, RhoGEF and PH domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aarskog-Scott syndrome' - 'FYVE, RhoGEF and PH domain containing 1' SubClassOf 'gene' + 'FYVE, RhoGEF and PH domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FYVE, RhoGEF and PH domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aarskog-Scott syndrome' + 'FYVE, RhoGEF and PH domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_352563 Label: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'disease' - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'disease' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_88619 Label: Familial acute necrotizing encephalopathy - 'Familial acute necrotizing encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial acute necrotizing encephalopathy' SubClassOf 'disease' - 'Familial acute necrotizing encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial acute necrotizing encephalopathy' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Familial acute necrotizing encephalopathy' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Familial acute necrotizing encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial acute necrotizing encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial acute necrotizing encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial acute necrotizing encephalopathy' SubClassOf 'disease' + 'Familial acute necrotizing encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Familial acute necrotizing encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial acute necrotizing encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Familial acute necrotizing encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_88618 Label: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'disease' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'disease' + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_88616 Label: Autosomal recessive non-syndromic intellectual disability - 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'etiological subtype' - 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability without developmental anomaly' + 'Autosomal recessive non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability without developmental anomaly' + 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_178806 Label: fermitin family member 3 - 'fermitin family member 3' SubClassOf 'gene' - 'fermitin family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukocyte adhesion deficiency type III' + 'fermitin family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leukocyte adhesion deficiency type III' + 'fermitin family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'fermitin family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_218033 Label: family with sequence similarity 134, member B - 'family with sequence similarity 134, member B' SubClassOf 'gene' - 'family with sequence similarity 134, member B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 2' + 'family with sequence similarity 134, member B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 134, member B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary sensory and autonomic neuropathy type 2' + 'family with sequence similarity 134, member B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261911 Label: Partial deletion of the short arm of chromosome 7 - 'Partial deletion of the short arm of chromosome 7' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139778 Label: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) - 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' - 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Modifying germline mutation in' some 'Oculocutaneous albinism type 2' - 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'gene' - 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Modifying germline mutation in' some 'Large congenital melanocytic nevus' + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Modifying germline mutation in' some 'Oculocutaneous albinism type 2' + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Modifying germline mutation in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_352561 Label: O-6-methylguanine-DNA methyltransferase - 'O-6-methylguanine-DNA methyltransferase' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' - 'O-6-methylguanine-DNA methyltransferase' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'O-6-methylguanine-DNA methyltransferase' SubClassOf 'gene' + 'O-6-methylguanine-DNA methyltransferase' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'O-6-methylguanine-DNA methyltransferase' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'O-6-methylguanine-DNA methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'O-6-methylguanine-DNA methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_294953 Label: Limb overgrowth - 'Limb overgrowth' SubClassOf 'group of disorders' + 'Limb overgrowth' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294955 Label: Syndrome with limb reduction defects - 'Syndrome with limb reduction defects' SubClassOf 'group of disorders' + 'Syndrome with limb reduction defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294957 Label: Dysostosis with combined reduction defects of upper and lower limbs - 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'group of disorders' + 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294959 Label: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'group of disorders' + 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169415 Label: transmembrane protein 70 - 'transmembrane protein 70' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' - 'transmembrane protein 70' SubClassOf 'gene' + 'transmembrane protein 70' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 70' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 70' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_218036 Label: calcium activated nucleotidase 1 - 'calcium activated nucleotidase 1' SubClassOf 'gene' - 'calcium activated nucleotidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desbuquois syndrome' + 'calcium activated nucleotidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium activated nucleotidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium activated nucleotidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Desbuquois syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88621 Label: Ichthyosis prematurity syndrome - 'Ichthyosis prematurity syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis prematurity syndrome' SubClassOf 'disease' - 'Ichthyosis prematurity syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis prematurity syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis prematurity syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ichthyosis prematurity syndrome' SubClassOf 'disease' + 'Ichthyosis prematurity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis prematurity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis prematurity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis prematurity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis prematurity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_169410 Label: TSEN2 tRNA splicing endonuclease subunit - 'TSEN2 tRNA splicing endonuclease subunit' SubClassOf 'gene' - 'TSEN2 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' + 'TSEN2 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' + 'TSEN2 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.2"^^http://www.w3.org/2001/XMLSchema#string + 'TSEN2 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_88620 Label: Isolated congenital anosmia - 'Isolated congenital anosmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated congenital anosmia' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'Isolated congenital anosmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated congenital anosmia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated congenital anosmia' SubClassOf 'disease' + 'Isolated congenital anosmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated congenital anosmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenital anosmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Isolated congenital anosmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated congenital anosmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated congenital anosmia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119703 Label: solute carrier family 6 (neutral amino acid transporter), member 19 - 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' - 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hartnup disease' - 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf 'gene' + 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hartnup disease' + 'solute carrier family 6 (neutral amino acid transporter), member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123902 Label: nuclear receptor subfamily 0, group B, member 1 - 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cytomegalic congenital adrenal hypoplasia' - 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' - 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'gene' - 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cytomegalic congenital adrenal hypoplasia' + 'nuclear receptor subfamily 0, group B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'nuclear receptor subfamily 0, group B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.3"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 0, group B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_119705 Label: solute carrier family 6 (neurotransmitter transporter), member 8 - 'solute carrier family 6 (neurotransmitter transporter), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked creatine transporter deficiency' - 'solute carrier family 6 (neurotransmitter transporter), member 8' SubClassOf 'gene' + 'solute carrier family 6 (neurotransmitter transporter), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked creatine transporter deficiency' + 'solute carrier family 6 (neurotransmitter transporter), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 6 (neurotransmitter transporter), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_65287 Label: Beta-ureidopropionase deficiency - 'Beta-ureidopropionase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Beta-ureidopropionase deficiency' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Beta-ureidopropionase deficiency' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - 'Beta-ureidopropionase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-ureidopropionase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Beta-ureidopropionase deficiency' SubClassOf 'disease' - 'Beta-ureidopropionase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Beta-ureidopropionase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + 'Beta-ureidopropionase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Beta-ureidopropionase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beta-ureidopropionase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beta-ureidopropionase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65286 Label: 3q29 microdeletion syndrome - '3q29 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3q29 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' - '3q29 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '3q29 microdeletion syndrome' SubClassOf 'malformation syndrome' - '3q29 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + '3q29 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3q29 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + '3q29 microdeletion syndrome' SubClassOf 'malformation syndrome' + '3q29 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3q29 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_119709 Label: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 - 'solute carrier family 7 (amino acid transporter light chain, y+L system), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lysinuric protein intolerance' - 'solute carrier family 7 (amino acid transporter light chain, y+L system), member 7' SubClassOf 'gene' + 'solute carrier family 7 (amino acid transporter light chain, y+L system), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 7 (amino acid transporter light chain, y+L system), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lysinuric protein intolerance' + 'solute carrier family 7 (amino acid transporter light chain, y+L system), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_65288 Label: Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'malformation syndrome' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'part_of' some 'Neonatal diabetes mellitus' + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'malformation syndrome' + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal diabetes mellitus' + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_391646 Label: Feingold syndrome type 2 - 'Feingold syndrome type 2' SubClassOf 'part_of' some 'Feingold syndrome' - 'Feingold syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Feingold syndrome type 2' SubClassOf 'clinical subtype' - 'Feingold syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Feingold syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Feingold syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Feingold syndrome' + 'Feingold syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Feingold syndrome type 2' SubClassOf 'clinical subtype' + 'Feingold syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Feingold syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Feingold syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_65283 Label: Timothy syndrome - 'Timothy syndrome' SubClassOf 'part_of' some 'Familial long QT syndrome' - 'Timothy syndrome' SubClassOf 'clinical subtype' - 'Timothy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Timothy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Timothy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Timothy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial long QT syndrome' + 'Timothy syndrome' SubClassOf 'clinical subtype' + 'Timothy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_65282 Label: Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'disease' - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'disease' + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_316226 Label: Spastic ataxia - 'Spastic ataxia' SubClassOf 'group of disorders' + 'Spastic ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118376 Label: retinal pigment epithelium-specific protein 65kDa - 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' - 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' - 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'gene' + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string + 'retinal pigment epithelium-specific protein 65kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_65285 Label: Lhermitte-Duclos disease - 'Lhermitte-Duclos disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lhermitte-Duclos disease' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Lhermitte-Duclos disease' SubClassOf 'part_of' some 'Mixed neuronal-glial tumor' - 'Lhermitte-Duclos disease' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Lhermitte-Duclos disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lhermitte-Duclos disease' SubClassOf 'disease' + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed neuronal-glial tumor' + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Lhermitte-Duclos disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lhermitte-Duclos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lhermitte-Duclos disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Lhermitte-Duclos disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_290272 Label: histone deacetylase 8 - 'histone deacetylase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wilson-Turner syndrome' - 'histone deacetylase 8' SubClassOf 'gene' - 'histone deacetylase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' + 'histone deacetylase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histone deacetylase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cornelia de Lange syndrome' + 'histone deacetylase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Wilson-Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_65284 Label: Biotin-responsive basal ganglia disease - 'Biotin-responsive basal ganglia disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Biotin-responsive basal ganglia disease' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Biotin-responsive basal ganglia disease' SubClassOf 'disease' + 'Biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Biotin-responsive basal ganglia disease' SubClassOf 'disease' + 'Biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_329457 Label: Distal arthrogryposis type 5D - 'Distal arthrogryposis type 5D' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Distal arthrogryposis type 5D' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal arthrogryposis type 5D' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal arthrogryposis type 5D' SubClassOf 'disease' - 'Distal arthrogryposis type 5D' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal arthrogryposis type 5D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal arthrogryposis type 5D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal arthrogryposis type 5D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal arthrogryposis type 5D' SubClassOf 'disease' + 'Distal arthrogryposis type 5D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal arthrogryposis type 5D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_119700 Label: solute carrier family 5 (sodium/iodide cotransporter), member 5 - 'solute carrier family 5 (sodium/iodide cotransporter), member 5' SubClassOf 'gene' - 'solute carrier family 5 (sodium/iodide cotransporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'solute carrier family 5 (sodium/iodide cotransporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 5 (sodium/iodide cotransporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 5 (sodium/iodide cotransporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' Class: http://www.orpha.net/ORDO/Orphanet_261902 Label: Partial deletion of the short arm of chromosome 6 - 'Partial deletion of the short arm of chromosome 6' SubClassOf 'group of disorders' + 'Partial deletion of the short arm of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118370 Label: retinitis pigmentosa 2 (X-linked recessive) - 'retinitis pigmentosa 2 (X-linked recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinitis pigmentosa 2 (X-linked recessive)' SubClassOf 'gene' + 'retinitis pigmentosa 2 (X-linked recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinitis pigmentosa 2 (X-linked recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa 2 (X-linked recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_294929 Label: Terminal limb defects - 'Terminal limb defects' SubClassOf 'group of disorders' + 'Terminal limb defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294927 Label: Intercalary limb defects - 'Intercalary limb defects' SubClassOf 'group of disorders' + 'Intercalary limb defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_206953 Label: Muscular lipidosis - 'Muscular lipidosis' SubClassOf 'group of disorders' + 'Muscular lipidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118373 Label: retinitis pigmentosa 9 (autosomal dominant) - 'retinitis pigmentosa 9 (autosomal dominant)' SubClassOf 'gene' - 'retinitis pigmentosa 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinitis pigmentosa 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'retinitis pigmentosa 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_294925 Label: Amelia - 'Amelia' SubClassOf 'group of disorders' + 'Amelia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_391651 Label: Glomus tumor - 'Glomus tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Glomus tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glomus tumor' SubClassOf 'disease' + 'Glomus tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Glomus tumor' SubClassOf 'disease' + 'Glomus tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_206959 Label: Muscular glycogenosis - 'Muscular glycogenosis' SubClassOf 'group of disorders' + 'Muscular glycogenosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120289 Label: tripartite motif containing 37 - 'tripartite motif containing 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'MULIBREY nanism' - 'tripartite motif containing 37' SubClassOf 'gene' + 'tripartite motif containing 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripartite motif containing 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'MULIBREY nanism' + 'tripartite motif containing 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123912 Label: nuclear receptor subfamily 2, group E, member 3 - 'nuclear receptor subfamily 2, group E, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'nuclear receptor subfamily 2, group E, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Goldmann-Favre syndrome' - 'nuclear receptor subfamily 2, group E, member 3' SubClassOf 'gene' + 'nuclear receptor subfamily 2, group E, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'nuclear receptor subfamily 2, group E, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Goldmann-Favre syndrome' + 'nuclear receptor subfamily 2, group E, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 2, group E, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123916 Label: nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) - 'nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)' SubClassOf 'gene' - 'nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glucocorticoid resistance' + 'nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glucocorticoid resistance' Class: http://www.orpha.net/ORDO/Orphanet_65279 Label: Lymphocytic colitis - 'Lymphocytic colitis' SubClassOf 'part_of' some 'Microscopic colitis' - 'Lymphocytic colitis' SubClassOf 'clinical subtype' + 'Lymphocytic colitis' SubClassOf 'clinical subtype' + 'Lymphocytic colitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microscopic colitis' Class: http://www.orpha.net/ORDO/Orphanet_391658 Label: Cowpox infection - 'Cowpox infection' SubClassOf 'part_of' some 'Rare viral disease' - 'Cowpox infection' SubClassOf 'disease' - 'Cowpox infection' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Cowpox infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Cowpox infection' SubClassOf 'disease' + 'Cowpox infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_329469 Label: Acute megakaryoblastic leukemia without Down syndrome - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'clinical subtype' - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'part_of' some 'Acute megakaryoblastic leukemia' + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'clinical subtype' + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute megakaryoblastic leukemia' + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_118367 Label: retinitis pigmentosa 1 (autosomal dominant) - 'retinitis pigmentosa 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinitis pigmentosa 1 (autosomal dominant)' SubClassOf 'gene' + 'retinitis pigmentosa 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinitis pigmentosa 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinitis pigmentosa 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352540 Label: Oncogenic osteomalacia - 'Oncogenic osteomalacia' SubClassOf 'disease' - 'Oncogenic osteomalacia' SubClassOf 'has_inheritance' some 'sporadic' - 'Oncogenic osteomalacia' SubClassOf 'part_of' some 'Rare bone disease' - 'Oncogenic osteomalacia' SubClassOf 'has_prevalence' some 'Unknown' - 'Oncogenic osteomalacia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oncogenic osteomalacia' SubClassOf 'part_of' some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Oncogenic osteomalacia' SubClassOf 'disease' + 'Oncogenic osteomalacia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone disease' + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Oncogenic osteomalacia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_329466 Label: Autosomal dominant focal dystonia, DYT25 - 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'disease' - 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant focal dystonia, DYT25' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'disease' + 'Autosomal dominant focal dystonia, DYT25' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_316235 Label: Autosomal dominant spastic ataxia - 'Autosomal dominant spastic ataxia' SubClassOf 'group of disorders' + 'Autosomal dominant spastic ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96059 Label: Mosaic trisomy 4 - 'Mosaic trisomy 4' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 4' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 4' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_120293 Label: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase - 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' - 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' - 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'gene' - 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' Class: http://www.orpha.net/ORDO/Orphanet_264501 Label: lipase, family member N - 'lipase, family member N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'lipase, family member N' SubClassOf 'gene' + 'lipase, family member N' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, family member N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'lipase, family member N' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96055 Label: Tetrasomy 21 - 'Tetrasomy 21' SubClassOf 'malformation syndrome' - 'Tetrasomy 21' SubClassOf 'part_of' some 'Partial autosomal trisomy/tetrasomy' + 'Tetrasomy 21' SubClassOf 'malformation syndrome' + 'Tetrasomy 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial autosomal trisomy/tetrasomy' Class: http://www.orpha.net/ORDO/Orphanet_294939 Label: Preaxial polydactyly of fingers - 'Preaxial polydactyly of fingers' SubClassOf 'group of disorders' + 'Preaxial polydactyly of fingers' SubClassOf 'group of disorders' + 'Preaxial polydactyly of fingers' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Preaxial polydactyly of fingers' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118362 Label: receptor tyrosine kinase-like orphan receptor 2 - 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type B' - 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf 'gene' - 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Robinow syndrome' + 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type B' + 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Robinow syndrome' + 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'receptor tyrosine kinase-like orphan receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_294935 Label: Split hand or/and split foot malformation - 'Split hand or/and split foot malformation' SubClassOf 'group of disorders' + 'Split hand or/and split foot malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_206966 Label: Mitochondrial myopathy - 'Mitochondrial myopathy' SubClassOf 'group of disorders' + 'Mitochondrial myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294937 Label: Brachydactyly - 'Brachydactyly' SubClassOf 'group of disorders' + 'Brachydactyly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294931 Label: Adactyly of hand - 'Adactyly of hand' SubClassOf 'group of disorders' + 'Adactyly of hand' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123920 Label: nuclear receptor subfamily 3, group C, member 2 - 'nuclear receptor subfamily 3, group C, member 2' SubClassOf 'gene' - 'nuclear receptor subfamily 3, group C, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal pseudohypoaldosteronism type 1' - 'nuclear receptor subfamily 3, group C, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohyperaldosteronism type 2' + 'nuclear receptor subfamily 3, group C, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Pseudohyperaldosteronism type 2' + 'nuclear receptor subfamily 3, group C, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal pseudohypoaldosteronism type 1' + 'nuclear receptor subfamily 3, group C, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 3, group C, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120298 Label: transient receptor potential cation channel, subfamily C, member 6 - 'transient receptor potential cation channel, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'transient receptor potential cation channel, subfamily C, member 6' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'transient receptor potential cation channel, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_391627 Label: eukaryotic translation initiation factor 2 alpha kinase 4 - 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary venoocclusive disease' - 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary capillary hemangiomatosis' + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pulmonary capillary hemangiomatosis' + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pulmonary venoocclusive disease' + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119727 Label: SMAD family member 4 - 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' - 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' - 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' - 'SMAD family member 4' SubClassOf 'gene' - 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myhre syndrome' + 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' + 'SMAD family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' + 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' + 'SMAD family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myhre syndrome' + 'SMAD family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_352530 Label: Intellectual disability - obesity - brain malformations - facial dysmorphism - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'disease' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'part_of' some 'Syndromic obesity' + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'disease' + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_357329 Label: Cryptosporidiosis - chronic cholangitis - liver disease - 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'disease' - 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'disease' + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119720 Label: secreted LY6/PLAUR domain containing 1 - 'secreted LY6/PLAUR domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mal de Meleda' - 'secreted LY6/PLAUR domain containing 1' SubClassOf 'gene' + 'secreted LY6/PLAUR domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mal de Meleda' + 'secreted LY6/PLAUR domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'secreted LY6/PLAUR domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169464 Label: Primary CD59 deficiency - 'Primary CD59 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary CD59 deficiency' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Primary CD59 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary CD59 deficiency' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' - 'Primary CD59 deficiency' SubClassOf 'disease' - 'Primary CD59 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Primary CD59 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Primary CD59 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary CD59 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary CD59 deficiency' SubClassOf 'disease' + 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' + 'Primary CD59 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_96068 Label: Mosaic trisomy 22 - 'Mosaic trisomy 22' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 22' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 22' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_88673 Label: Hepatocellular carcinoma - 'Hepatocellular carcinoma' SubClassOf 'part_of' some 'Rare hepatic tumor' - 'Hepatocellular carcinoma' SubClassOf 'disease' - 'Hepatocellular carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hepatocellular carcinoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C032 value "49.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410138) and (http://www.orpha.net/ORDO/Orphanet_C032 value "99.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C032 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf 'disease' + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409985) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "29.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatocellular carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_96069 Label: Distal trisomy 1p36 - 'Distal trisomy 1p36' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 1' - 'Distal trisomy 1p36' SubClassOf 'malformation syndrome' + 'Distal trisomy 1p36' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 1' + 'Distal trisomy 1p36' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_399103 Label: Nebulin-related early-onset distal myopathy - 'Nebulin-related early-onset distal myopathy' SubClassOf 'disease' - 'Nebulin-related early-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' + 'Nebulin-related early-onset distal myopathy' SubClassOf 'disease' + 'Nebulin-related early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_123934 Label: neurturin - 'neurturin' SubClassOf 'gene' - 'neurturin' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'neurturin' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'neurturin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurturin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96060 Label: Mosaic trisomy 5 - 'Mosaic trisomy 5' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 5' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 5' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_96061 Label: Mosaic trisomy 8 - 'Mosaic trisomy 8' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mosaic trisomy 8' SubClassOf 'has_prevalence' some 'Unknown' - 'Mosaic trisomy 8' SubClassOf 'has_inheritance' some 'sporadic' - 'Mosaic trisomy 8' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 8' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 8' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Mosaic trisomy 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mosaic trisomy 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mosaic trisomy 8' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mosaic trisomy 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_169467 Label: Recurrent Neisseria infections due to factor D deficiency - 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'disease' + 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'disease' + 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_96063 Label: Mosaic trisomy 10 - 'Mosaic trisomy 10' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 10' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 10' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123930 Label: neural retina leucine zipper - 'neural retina leucine zipper' SubClassOf 'gene' - 'neural retina leucine zipper' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'neural retina leucine zipper' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neural retina leucine zipper' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.1-q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'neural retina leucine zipper' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_391631 Label: phosphatidylserine synthase 1 - 'phosphatidylserine synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lenz-Majewski hyperostotic dwarfism' - 'phosphatidylserine synthase 1' SubClassOf 'gene' + 'phosphatidylserine synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylserine synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylserine synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Lenz-Majewski hyperostotic dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_123937 Label: nuclear receptor binding SET domain protein 1 - 'nuclear receptor binding SET domain protein 1' SubClassOf 'gene' - 'nuclear receptor binding SET domain protein 1' SubClassOf 'Role in the phenotype of' some '5q35 microduplication syndrome' - 'nuclear receptor binding SET domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to NSD1 mutation' - 'nuclear receptor binding SET domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sotos syndrome' - 'nuclear receptor binding SET domain protein 1' SubClassOf 'Candidate gene tested in' some 'Weaver syndrome' + 'nuclear receptor binding SET domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor binding SET domain protein 1' SubClassOf 'Role in the phenotype of' some '5q35 microduplication syndrome' + 'nuclear receptor binding SET domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor binding SET domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sotos syndrome' + 'nuclear receptor binding SET domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to NSD1 mutation' + 'nuclear receptor binding SET domain protein 1' SubClassOf 'Candidate gene tested in' some 'Weaver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119713 Label: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 - 'solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinuria type B' - 'solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9' SubClassOf 'gene' + 'solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinuria type B' + 'solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118388 Label: retinitis pigmentosa GTPase regulator interacting protein 1 - 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'gene' - 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Candidate gene tested in' some 'Meckel syndrome' + 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Candidate gene tested in' some 'Meckel syndrome' + 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa GTPase regulator interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_88659 Label: Autosomal dominant progressive nephropathy with hypertension - 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'disease' - 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'part_of' some 'Genetic hypertension' + 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_96078 Label: 16p13.3 microduplication syndrome - '16p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' - '16p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' + '16p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' + '16p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96076 Label: Beckwith-Wiedemann syndrome due to 11p15 microduplication - 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 11' - 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 11' + 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_268882 Label: Arnold-Chiari malformation type I - 'Arnold-Chiari malformation type I' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Arnold-Chiari malformation type I' SubClassOf 'morphological anomaly' - 'Arnold-Chiari malformation type I' SubClassOf 'has_prevalence' some 'Unknown' + 'Arnold-Chiari malformation type I' SubClassOf 'morphological anomaly' + 'Arnold-Chiari malformation type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_118381 Label: retinitis pigmentosa GTPase regulator - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Candidate gene tested in' some 'Achromatopsia' - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinitis pigmentosa GTPase regulator' SubClassOf 'gene' - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia - retinitis pigmentosa' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Candidate gene tested in' some 'Achromatopsia' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinitis pigmentosa GTPase regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa GTPase regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia - retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_88661 Label: Amelogenesis imperfecta - 'Amelogenesis imperfecta' SubClassOf 'has_prevalence' some 'Unknown' - 'Amelogenesis imperfecta' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' - 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'sporadic' - 'Amelogenesis imperfecta' SubClassOf 'disease' - 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Amelogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Amelogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "90.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amelogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Amelogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "142.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amelogenesis imperfecta' SubClassOf 'disease' + 'Amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_88660 Label: Pseudohyperaldosteronism type 2 - 'Pseudohyperaldosteronism type 2' SubClassOf 'part_of' some 'Genetic hypertension' - 'Pseudohyperaldosteronism type 2' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Pseudohyperaldosteronism type 2' SubClassOf 'disease' + 'Pseudohyperaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Pseudohyperaldosteronism type 2' SubClassOf 'disease' + 'Pseudohyperaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' Class: http://www.orpha.net/ORDO/Orphanet_96070 Label: Distal trisomy 2p - 'Distal trisomy 2p' SubClassOf 'malformation syndrome' - 'Distal trisomy 2p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 2' - 'Distal trisomy 2p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Distal trisomy 2p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Distal trisomy 2p' SubClassOf 'malformation syndrome' + 'Distal trisomy 2p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_123942 Label: NAD(P) dependent steroid dehydrogenase-like - 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'CK syndrome' - 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHILD syndrome' - 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf 'gene' + 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'CK syndrome' + 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHILD syndrome' + 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'NAD(P) dependent steroid dehydrogenase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_391641 Label: Feingold syndrome type 1 - 'Feingold syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Feingold syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Feingold syndrome type 1' SubClassOf 'part_of' some 'Feingold syndrome' - 'Feingold syndrome type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Feingold syndrome type 1' SubClassOf 'clinical subtype' + 'Feingold syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Feingold syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Feingold syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Feingold syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Feingold syndrome type 1' SubClassOf 'clinical subtype' + 'Feingold syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Feingold syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96074 Label: Distal trisomy 7p - 'Distal trisomy 7p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 7' - 'Distal trisomy 7p' SubClassOf 'malformation syndrome' + 'Distal trisomy 7p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 7' + 'Distal trisomy 7p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96071 Label: Distal trisomy 3p - 'Distal trisomy 3p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 3' - 'Distal trisomy 3p' SubClassOf 'malformation syndrome' + 'Distal trisomy 3p' SubClassOf 'malformation syndrome' + 'Distal trisomy 3p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_96072 Label: 4p16.3 microduplication syndrome - '4p16.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 4' - '4p16.3 microduplication syndrome' SubClassOf 'part_of' some 'Chromosomal disease with overgrowth' - '4p16.3 microduplication syndrome' SubClassOf 'malformation syndrome' + '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 4' + '4p16.3 microduplication syndrome' SubClassOf 'malformation syndrome' + '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal disease with overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_137686 Label: Asherman syndrome - 'Asherman syndrome' SubClassOf 'disease' - 'Asherman syndrome' SubClassOf 'part_of' some 'Rare non-malformative uterovaginal or vulvovaginal disease' + 'Asherman syndrome' SubClassOf 'disease' + 'Asherman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative uterovaginal or vulvovaginal disease' Class: http://www.orpha.net/ORDO/Orphanet_120249 Label: triggering receptor expressed on myeloid cells 2 - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nasu-Hakola disease' - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'triggering receptor expressed on myeloid cells 2' SubClassOf 'gene' + 'triggering receptor expressed on myeloid cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'triggering receptor expressed on myeloid cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'triggering receptor expressed on myeloid cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Nasu-Hakola disease' Class: http://www.orpha.net/ORDO/Orphanet_166490 Label: Infectious disease with epilepsy - 'Infectious disease with epilepsy' SubClassOf 'group of disorders' + 'Infectious disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137681 Label: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 - 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'disease' - 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'disease' + 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_528 Label: Berardinelli-Seip congenital lipodystrophy - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disease' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disease' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_206994 Label: Bacterial myositis - 'Bacterial myositis' SubClassOf 'disease' - 'Bacterial myositis' SubClassOf 'part_of' some 'Infectious, fungal or parasitic myopathy' + 'Bacterial myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious, fungal or parasitic myopathy' + 'Bacterial myositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_529 Label: Roch-Leri mesosomatous lipomatosis - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'disease' - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'disease' + 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_120241 Label: trafficking protein particle complex 2 - 'trafficking protein particle complex 2' SubClassOf 'gene' - 'trafficking protein particle complex 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia tarda' + 'trafficking protein particle complex 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'trafficking protein particle complex 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia tarda' + 'trafficking protein particle complex 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_526 Label: Liddle syndrome - 'Liddle syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Liddle syndrome' SubClassOf 'disease' - 'Liddle syndrome' SubClassOf 'part_of' some 'Genetic hypertension' - 'Liddle syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Liddle syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Liddle syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Liddle syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Liddle syndrome' SubClassOf 'disease' + 'Liddle syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Liddle syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_52417 Label: MALT lymphoma - 'MALT lymphoma' SubClassOf 'disease' - 'MALT lymphoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'MALT lymphoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'MALT lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' - 'MALT lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'MALT lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'MALT lymphoma' SubClassOf 'disease' + 'MALT lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'MALT lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'MALT lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'MALT lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'MALT lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'MALT lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' + 'MALT lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.59"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_206991 Label: Viral myositis - 'Viral myositis' SubClassOf 'part_of' some 'Infectious, fungal or parasitic myopathy' - 'Viral myositis' SubClassOf 'disease' + 'Viral myositis' SubClassOf 'disease' + 'Viral myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious, fungal or parasitic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_52416 Label: Mantle cell lymphoma - 'Mantle cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mantle cell lymphoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Mantle cell lymphoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mantle cell lymphoma' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'Mantle cell lymphoma' SubClassOf 'disease' - 'Mantle cell lymphoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Mantle cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mantle cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Mantle cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Mantle cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mantle cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Mantle cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Mantle cell lymphoma' SubClassOf 'disease' + 'Mantle cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_206997 Label: Parasitic myositis - 'Parasitic myositis' SubClassOf 'group of disorders' + 'Parasitic myositis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91498 Label: Familial congenital palsy of trochlear nerve - 'Familial congenital palsy of trochlear nerve' SubClassOf 'disease' - 'Familial congenital palsy of trochlear nerve' SubClassOf 'part_of' some 'Congenital trochlear nerve palsy' + 'Familial congenital palsy of trochlear nerve' SubClassOf 'disease' + 'Familial congenital palsy of trochlear nerve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital trochlear nerve palsy' Class: http://www.orpha.net/ORDO/Orphanet_317798 Label: serine/threonine kinase 4 - 'serine/threonine kinase 4' SubClassOf 'gene' - 'serine/threonine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to STK4 deficiency' + 'serine/threonine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'serine/threonine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine/threonine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to STK4 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_531 Label: Miller-Dieker syndrome - 'Miller-Dieker syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Miller-Dieker syndrome' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Miller-Dieker syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Miller-Dieker syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Miller-Dieker syndrome' SubClassOf 'malformation syndrome' - 'Miller-Dieker syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Miller-Dieker syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' + 'Miller-Dieker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Miller-Dieker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' + 'Miller-Dieker syndrome' SubClassOf 'malformation syndrome' + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Miller-Dieker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' + 'Miller-Dieker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_91496 Label: Snowflake vitreoretinal degeneration - 'Snowflake vitreoretinal degeneration' SubClassOf 'disease' - 'Snowflake vitreoretinal degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Snowflake vitreoretinal degeneration' SubClassOf 'part_of' some 'Vitreoretinal degeneration' + 'Snowflake vitreoretinal degeneration' SubClassOf 'disease' + 'Snowflake vitreoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Snowflake vitreoretinal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_530 Label: Lipoid proteinosis - 'Lipoid proteinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lipoid proteinosis' SubClassOf 'malformation syndrome' - 'Lipoid proteinosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Lipoid proteinosis' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Lipoid proteinosis' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Lipoid proteinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Lipoid proteinosis' SubClassOf 'malformation syndrome' + 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Lipoid proteinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lipoid proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_535 Label: Cutaneous lupus erythematosus - 'Cutaneous lupus erythematosus' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Cutaneous lupus erythematosus' SubClassOf 'group of disorders' - 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cutaneous lupus erythematosus' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutaneous lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous lupus erythematosus' SubClassOf 'group of disorders' + 'Cutaneous lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "73.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cutaneous lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_534 Label: Oculocerebrorenal syndrome - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Oculocerebrorenal syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Oculocerebrorenal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Oculocerebrorenal syndrome' SubClassOf 'malformation syndrome' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Oculocerebrorenal syndrome' SubClassOf 'part_of' some 'Renal disease with cataract' - 'Oculocerebrorenal syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Oculocerebrorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocerebrorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Oculocerebrorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Oculocerebrorenal syndrome' SubClassOf 'malformation syndrome' + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal disease with cataract' + 'Oculocerebrorenal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Oculocerebrorenal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_533 Label: Listeriosis - 'Listeriosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Listeriosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Listeriosis' SubClassOf 'disease' - 'Listeriosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Listeriosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Listeriosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Listeriosis' SubClassOf 'disease' + 'Listeriosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Listeriosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_119743 Label: structural maintenance of chromosomes 1A - 'structural maintenance of chromosomes 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' - 'structural maintenance of chromosomes 1A' SubClassOf 'gene' + 'structural maintenance of chromosomes 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'structural maintenance of chromosomes 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' + 'structural maintenance of chromosomes 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22-p11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_311103 Label: homeobox B1 - 'homeobox B1' SubClassOf 'gene' - 'homeobox B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital hereditary facial paralysis with variable hearing loss' + 'homeobox B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homeobox B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital hereditary facial paralysis with variable hearing loss' Class: http://www.orpha.net/ORDO/Orphanet_120239 Label: translocated promoter region, nuclear basket protein - 'translocated promoter region, nuclear basket protein' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'translocated promoter region, nuclear basket protein' SubClassOf 'gene' + 'translocated promoter region, nuclear basket protein' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'translocated promoter region, nuclear basket protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'translocated promoter region, nuclear basket protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96094 Label: Distal trisomy 2q - 'Distal trisomy 2q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 2' - 'Distal trisomy 2q' SubClassOf 'malformation syndrome' + 'Distal trisomy 2q' SubClassOf 'malformation syndrome' + 'Distal trisomy 2q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_166481 Label: Metabolic diseases with epilepsy - 'Metabolic diseases with epilepsy' SubClassOf 'group of disorders' + 'Metabolic diseases with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96096 Label: Distal trisomy 4q - 'Distal trisomy 4q' SubClassOf 'malformation syndrome' - 'Distal trisomy 4q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 4' + 'Distal trisomy 4q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 4' + 'Distal trisomy 4q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137675 Label: Histiocytoid cardiomyopathy - 'Histiocytoid cardiomyopathy' SubClassOf 'disease' - 'Histiocytoid cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Histiocytoid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Histiocytoid cardiomyopathy' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'Histiocytoid cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Histiocytoid cardiomyopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Histiocytoid cardiomyopathy' SubClassOf 'disease' + 'Histiocytoid cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Histiocytoid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Histiocytoid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Histiocytoid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Histiocytoid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'Histiocytoid cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120259 Label: thyrotropin-releasing hormone - 'thyrotropin-releasing hormone' SubClassOf 'gene' - 'thyrotropin-releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated thyrotropin-releasing hormone deficiency' + 'thyrotropin-releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated thyrotropin-releasing hormone deficiency' + 'thyrotropin-releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q13.3-q21"^^http://www.w3.org/2001/XMLSchema#string + 'thyrotropin-releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_96095 Label: 3q26 microduplication syndrome - '3q26 microduplication syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - '3q26 microduplication syndrome' SubClassOf 'malformation syndrome' - '3q26 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 3' + '3q26 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + '3q26 microduplication syndrome' SubClassOf 'malformation syndrome' + '3q26 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_268865 Label: Neurenteric cyst - 'Neurenteric cyst' SubClassOf 'morphological anomaly' - 'Neurenteric cyst' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurenteric cyst' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Neurenteric cyst' SubClassOf 'morphological anomaly' + 'Neurenteric cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_166484 Label: Inflammatory and autoimmune disease with epilepsy - 'Inflammatory and autoimmune disease with epilepsy' SubClassOf 'group of disorders' + 'Inflammatory and autoimmune disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268868 Label: Isolated amyelia - 'Isolated amyelia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated amyelia' SubClassOf 'morphological anomaly' - 'Isolated amyelia' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Isolated amyelia' SubClassOf 'morphological anomaly' + 'Isolated amyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_96092 Label: 8p inverted duplication/deletion syndrome - '8p inverted duplication/deletion syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '8p inverted duplication/deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8p inverted duplication/deletion syndrome' SubClassOf 'malformation syndrome' - '8p inverted duplication/deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8p inverted duplication/deletion syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' + '8p inverted duplication/deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8p inverted duplication/deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' + '8p inverted duplication/deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + '8p inverted duplication/deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8p inverted duplication/deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8p inverted duplication/deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8p inverted duplication/deletion syndrome' SubClassOf 'malformation syndrome' + '8p inverted duplication/deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + '8p inverted duplication/deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120255 Label: three prime repair exonuclease 1 - 'three prime repair exonuclease 1' SubClassOf 'gene' - 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'HERNS syndrome' - 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chilblain lupus' - 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary vascular retinopathy' - 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebroretinal vasculopathy' + 'three prime repair exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'HERNS syndrome' + 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'three prime repair exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chilblain lupus' + 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary vascular retinopathy' + 'three prime repair exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebroretinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_137672 Label: Pellucid marginal degeneration - 'Pellucid marginal degeneration' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Pellucid marginal degeneration' SubClassOf 'disease' + 'Pellucid marginal degeneration' SubClassOf 'disease' + 'Pellucid marginal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_52429 Label: Branchio-otic syndrome - 'Branchio-otic syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Branchio-otic syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-otic syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-otic syndrome' SubClassOf 'malformation syndrome' + 'Branchio-otic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Branchio-otic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Branchio-otic syndrome' SubClassOf 'malformation syndrome' + 'Branchio-otic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_91491 Label: Congenital ectropion uveae - 'Congenital ectropion uveae' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Congenital ectropion uveae' SubClassOf 'malformation syndrome' - 'Congenital ectropion uveae' SubClassOf 'part_of' some 'Iridogoniodysgenesis' + 'Congenital ectropion uveae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridogoniodysgenesis' + 'Congenital ectropion uveae' SubClassOf 'malformation syndrome' + 'Congenital ectropion uveae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_517 Label: Acute myelomonocytic leukemia - 'Acute myelomonocytic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' - 'Acute myelomonocytic leukemia' SubClassOf 'disease' - 'Acute myelomonocytic leukemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acute myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute myelomonocytic leukemia' SubClassOf 'disease' + 'Acute myelomonocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Acute myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_91490 Label: Isolated congenital sclerocornea - 'Isolated congenital sclerocornea' SubClassOf 'part_of' some 'Corneogoniodysgenesis' - 'Isolated congenital sclerocornea' SubClassOf 'morphological anomaly' - 'Isolated congenital sclerocornea' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' + 'Isolated congenital sclerocornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Corneogoniodysgenesis' + 'Isolated congenital sclerocornea' SubClassOf 'morphological anomaly' + 'Isolated congenital sclerocornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_518 Label: Acute megakaryoblastic leukemia - 'Acute megakaryoblastic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' - 'Acute megakaryoblastic leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute megakaryoblastic leukemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acute megakaryoblastic leukemia' SubClassOf 'disease' + 'Acute megakaryoblastic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute megakaryoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute megakaryoblastic leukemia' SubClassOf 'disease' + 'Acute megakaryoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_166487 Label: Cerebral diseases of vascular origin with epilepsy - 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'group of disorders' + 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96098 Label: Distal trisomy 6q - 'Distal trisomy 6q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 6' - 'Distal trisomy 6q' SubClassOf 'malformation syndrome' + 'Distal trisomy 6q' SubClassOf 'malformation syndrome' + 'Distal trisomy 6q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_519 Label: Acute myeloid leukemia - 'Acute myeloid leukemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acute myeloid leukemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute myeloid leukemia' SubClassOf 'group of disorders' + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "10.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute myeloid leukemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96097 Label: Distal trisomy 5q - 'Distal trisomy 5q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 5' - 'Distal trisomy 5q' SubClassOf 'malformation syndrome' + 'Distal trisomy 5q' SubClassOf 'malformation syndrome' + 'Distal trisomy 5q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_91492 Label: Non-syndromic congenital cataract - 'Non-syndromic congenital cataract' SubClassOf 'part_of' some 'Rare non-syndromic cataract' - 'Non-syndromic congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-syndromic congenital cataract' SubClassOf 'disease' - 'Non-syndromic congenital cataract' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' + 'Non-syndromic congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-syndromic congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-syndromic congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Non-syndromic congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-syndromic cataract' + 'Non-syndromic congenital cataract' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137678 Label: Czech dysplasia, metatarsal type - 'Czech dysplasia, metatarsal type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Czech dysplasia, metatarsal type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Czech dysplasia, metatarsal type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Czech dysplasia, metatarsal type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Czech dysplasia, metatarsal type' SubClassOf 'disease' - 'Czech dysplasia, metatarsal type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Czech dysplasia, metatarsal type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Czech dysplasia, metatarsal type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Czech dysplasia, metatarsal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Czech dysplasia, metatarsal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Czech dysplasia, metatarsal type' SubClassOf 'disease' + 'Czech dysplasia, metatarsal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_91495 Label: Persistent hyperplastic primary vitreous - 'Persistent hyperplastic primary vitreous' SubClassOf 'has_prevalence' some 'Unknown' - 'Persistent hyperplastic primary vitreous' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Persistent hyperplastic primary vitreous' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Persistent hyperplastic primary vitreous' SubClassOf 'disease' - 'Persistent hyperplastic primary vitreous' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Persistent hyperplastic primary vitreous' SubClassOf 'part_of' some 'Syndromic cataract' - 'Persistent hyperplastic primary vitreous' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Persistent hyperplastic primary vitreous' SubClassOf 'disease' + 'Persistent hyperplastic primary vitreous' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Persistent hyperplastic primary vitreous' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Persistent hyperplastic primary vitreous' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Persistent hyperplastic primary vitreous' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_52427 Label: Retinitis punctata albescens - 'Retinitis punctata albescens' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retinitis punctata albescens' SubClassOf 'disease' - 'Retinitis punctata albescens' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Retinitis punctata albescens' SubClassOf 'part_of' some 'Familial flecked retinopathy' + 'Retinitis punctata albescens' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retinitis punctata albescens' SubClassOf 'disease' + 'Retinitis punctata albescens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinitis punctata albescens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' Class: http://www.orpha.net/ORDO/Orphanet_91494 Label: Macular coloboma - cleft palate - hallux valgus - 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'malformation syndrome' + 'Macular coloboma - cleft palate - hallux valgus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Macular coloboma - cleft palate - hallux valgus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Macular coloboma - cleft palate - hallux valgus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'malformation syndrome' + 'Macular coloboma - cleft palate - hallux valgus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_285128 Label: myelin oligodendrocyte glycoprotein - 'myelin oligodendrocyte glycoprotein' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'myelin oligodendrocyte glycoprotein' SubClassOf 'gene' + 'myelin oligodendrocyte glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'myelin oligodendrocyte glycoprotein' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'myelin oligodendrocyte glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268861 Label: Primary tethered chord syndrome - 'Primary tethered chord syndrome' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Primary tethered chord syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary tethered chord syndrome' SubClassOf 'morphological anomaly' + 'Primary tethered chord syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Primary tethered chord syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_246647 Label: feline leukemia virus subgroup C cellular receptor 1 - 'feline leukemia virus subgroup C cellular receptor 1' SubClassOf 'gene' - 'feline leukemia virus subgroup C cellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior column ataxia - retinitis pigmentosa' + 'feline leukemia virus subgroup C cellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior column ataxia - retinitis pigmentosa' + 'feline leukemia virus subgroup C cellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'feline leukemia virus subgroup C cellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_285118 Label: polymerase (RNA) III (DNA directed) polypeptide B - 'polymerase (RNA) III (DNA directed) polypeptide B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' - 'polymerase (RNA) III (DNA directed) polypeptide B' SubClassOf 'gene' + 'polymerase (RNA) III (DNA directed) polypeptide B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' + 'polymerase (RNA) III (DNA directed) polypeptide B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (RNA) III (DNA directed) polypeptide B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_521 Label: Chronic myeloid leukemia - 'Chronic myeloid leukemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic myeloid leukemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic myeloid leukemia' SubClassOf 'disease' - 'Chronic myeloid leukemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Chronic myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic myeloid leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Chronic myeloid leukemia' SubClassOf 'disease' + 'Chronic myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic myeloid leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "5.63"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119731 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schimke immuno-osseous dysplasia' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schimke immuno-osseous dysplasia' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_520 Label: Acute promyelocytic leukemia - 'Acute promyelocytic leukemia' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute promyelocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute promyelocytic leukemia' SubClassOf 'disease' - 'Acute promyelocytic leukemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Acute promyelocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute promyelocytic leukemia' SubClassOf 'disease' + 'Acute promyelocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute promyelocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute promyelocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute promyelocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_91489 Label: Isolated congenital megalocornea - 'Isolated congenital megalocornea' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Isolated congenital megalocornea' SubClassOf 'part_of' some 'Corneogoniodysgenesis' - 'Isolated congenital megalocornea' SubClassOf 'morphological anomaly' + 'Isolated congenital megalocornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Corneogoniodysgenesis' + 'Isolated congenital megalocornea' SubClassOf 'morphological anomaly' + 'Isolated congenital megalocornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_523 Label: Hereditary leiomyomatosis and renal cell cancer - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'disease' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_525 Label: Lichen planopilaris - 'Lichen planopilaris' SubClassOf 'part_of' some 'Alopecia' - 'Lichen planopilaris' SubClassOf 'has_inheritance' some 'sporadic' - 'Lichen planopilaris' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Lichen planopilaris' SubClassOf 'has_prevalence' some 'Unknown' - 'Lichen planopilaris' SubClassOf 'disease' - 'Lichen planopilaris' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Lichen planopilaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Lichen planopilaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lichen planopilaris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lichen planopilaris' SubClassOf 'disease' + 'Lichen planopilaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_119735 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical teratoid rhabdoid tumor' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial rhabdoid tumor' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 3' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial rhabdoid tumor' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical teratoid rhabdoid tumor' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_52430 Label: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'part_of' some 'Frontotemporal degeneration with dementia' - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'disease' - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'part_of' some 'Inclusion myopathy' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'disease' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal degeneration with dementia' Class: http://www.orpha.net/ORDO/Orphanet_524 Label: Li-Fraumeni syndrome - 'Li-Fraumeni syndrome' SubClassOf 'disease' - 'Li-Fraumeni syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Li-Fraumeni syndrome' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' - 'Li-Fraumeni syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Li-Fraumeni syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Li-Fraumeni syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Li-Fraumeni syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' + 'Li-Fraumeni syndrome' SubClassOf 'disease' + 'Li-Fraumeni syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Li-Fraumeni syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Li-Fraumeni syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Li-Fraumeni syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Li-Fraumeni syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_231580 Label: Primary unilateral adrenal hyperplasia - 'Primary unilateral adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary unilateral adrenal hyperplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary unilateral adrenal hyperplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary unilateral adrenal hyperplasia' SubClassOf 'part_of' some 'Rare surgically correctable form of primary aldosteronism' - 'Primary unilateral adrenal hyperplasia' SubClassOf 'disease' + 'Primary unilateral adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare surgically correctable form of primary aldosteronism' + 'Primary unilateral adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary unilateral adrenal hyperplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary unilateral adrenal hyperplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_166472 Label: Monogenic disease with epilepsy - 'Monogenic disease with epilepsy' SubClassOf 'group of disorders' + 'Monogenic disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244390 Label: scavenger receptor class F, member 2 - 'scavenger receptor class F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van den Ende-Gupta syndrome' - 'scavenger receptor class F, member 2' SubClassOf 'gene' + 'scavenger receptor class F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van den Ende-Gupta syndrome' + 'scavenger receptor class F, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'scavenger receptor class F, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_268835 Label: Lipomyelomeningocele - 'Lipomyelomeningocele' SubClassOf 'morphological anomaly' - 'Lipomyelomeningocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Lipomyelomeningocele' SubClassOf 'part_of' some 'Lipoma associated with neurospinal dysraphism' + 'Lipomyelomeningocele' SubClassOf 'morphological anomaly' + 'Lipomyelomeningocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lipomyelomeningocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoma associated with neurospinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_206979 Label: Granulomatous myositis - 'Granulomatous myositis' SubClassOf 'group of disorders' + 'Granulomatous myositis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268832 Label: Lipoma associated with neurospinal dysraphism - 'Lipoma associated with neurospinal dysraphism' SubClassOf 'group of disorders' + 'Lipoma associated with neurospinal dysraphism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120269 Label: tripartite motif containing 27 - 'tripartite motif containing 27' SubClassOf 'gene' - 'tripartite motif containing 27' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'tripartite motif containing 27' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripartite motif containing 27' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22"^^http://www.w3.org/2001/XMLSchema#string + 'tripartite motif containing 27' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_206976 Label: Periodic paralysis - 'Periodic paralysis' SubClassOf 'group of disorders' + 'Periodic paralysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91483 Label: Rieger anomaly - 'Rieger anomaly' SubClassOf 'morphological anomaly' - 'Rieger anomaly' SubClassOf 'part_of' some 'Iridogoniodysgenesis' + 'Rieger anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridogoniodysgenesis' + 'Rieger anomaly' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_371364 Label: Hypotonia-speech impairment-severe cognitive delay syndrome - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'disease' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'disease' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_508 Label: Leprechaunism - 'Leprechaunism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Leprechaunism' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Leprechaunism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leprechaunism' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Leprechaunism' SubClassOf 'part_of' some 'Hypertrichosis' - 'Leprechaunism' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Leprechaunism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leprechaunism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leprechaunism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Leprechaunism' SubClassOf 'malformation syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Leprechaunism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Leprechaunism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Leprechaunism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leprechaunism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Leprechaunism' SubClassOf 'malformation syndrome' + 'Leprechaunism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_91481 Label: Ring dermoid of cornea - 'Ring dermoid of cornea' SubClassOf 'disease' - 'Ring dermoid of cornea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring dermoid of cornea' SubClassOf 'part_of' some 'Rare eye tumor' - 'Ring dermoid of cornea' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring dermoid of cornea' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ring dermoid of cornea' SubClassOf 'disease' + 'Ring dermoid of cornea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring dermoid of cornea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ring dermoid of cornea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring dermoid of cornea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ring dermoid of cornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_509 Label: Leptospirosis - 'Leptospirosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Leptospirosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Leptospirosis' SubClassOf 'disease' - 'Leptospirosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Leptospirosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Leptospirosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Leptospirosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Leptospirosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Leptospirosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Leptospirosis' SubClassOf 'disease' + 'Leptospirosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Leptospirosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_206973 Label: Congenital myotonia - 'Congenital myotonia' SubClassOf 'group of disorders' + 'Congenital myotonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_506 Label: Leigh syndrome - 'Leigh syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leigh syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Leigh syndrome' SubClassOf 'group of disorders' - 'Leigh syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Leigh syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Leigh syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Leigh syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Leigh syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Leigh syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Leigh syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leigh syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Leigh syndrome' SubClassOf 'group of disorders' + 'Leigh syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_285156 Label: K(lysine) acetyltransferase 6B - 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, SBBYS type' - 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genitopatellar syndrome' - 'K(lysine) acetyltransferase 6B' SubClassOf 'gene' - 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, SBBYS type' + 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genitopatellar syndrome' + 'K(lysine) acetyltransferase 6B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'K(lysine) acetyltransferase 6B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'K(lysine) acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166475 Label: Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes - 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'group of disorders' + 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_507 Label: Leishmaniasis - 'Leishmaniasis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Leishmaniasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Leishmaniasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Leishmaniasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Leishmaniasis' SubClassOf 'disease' + 'Leishmaniasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Leishmaniasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "174.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Leishmaniasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Leishmaniasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Leishmaniasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Leishmaniasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120263 Label: tripartite motif containing 24 - 'tripartite motif containing 24' SubClassOf 'gene' - 'tripartite motif containing 24' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'tripartite motif containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripartite motif containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32-q34"^^http://www.w3.org/2001/XMLSchema#string + 'tripartite motif containing 24' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_504 Label: Creeping myiasis - 'Creeping myiasis' SubClassOf 'part_of' some 'Subcutaneous myiasis' - 'Creeping myiasis' SubClassOf 'disease' + 'Creeping myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous myiasis' + 'Creeping myiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_317771 Label: beta-2-microglobulin - 'beta-2-microglobulin' SubClassOf 'gene' - 'beta-2-microglobulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant beta2-microglobulinic amyloidosis' + 'beta-2-microglobulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta-2-microglobulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'beta-2-microglobulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant beta2-microglobulinic amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_206970 Label: Myotonic syndrome - 'Myotonic syndrome' SubClassOf 'group of disorders' + 'Myotonic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_505 Label: Graham Little-Piccardi-Lassueur syndrome - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'disease' - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'part_of' some 'Alopecia' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'disease' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_329475 Label: Spastic paraplegia - Paget disease of bone - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'disease' - 'Spastic paraplegia - Paget disease of bone' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spastic paraplegia - Paget disease of bone' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spastic paraplegia - Paget disease of bone' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spastic paraplegia - Paget disease of bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Spastic paraplegia - Paget disease of bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia - Paget disease of bone' SubClassOf 'disease' + 'Spastic paraplegia - Paget disease of bone' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_166478 Label: Cerebral malformation with epilepsy - 'Cerebral malformation with epilepsy' SubClassOf 'group of disorders' + 'Cerebral malformation with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120261 Label: thyrotropin-releasing hormone receptor - 'thyrotropin-releasing hormone receptor' SubClassOf 'gene' - 'thyrotropin-releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Resistance to thyrotropin-releasing hormone syndrome' + 'thyrotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'thyrotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Resistance to thyrotropin-releasing hormone syndrome' + 'thyrotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_514 Label: Acute monoblastic leukemia - 'Acute monoblastic leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute monoblastic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' - 'Acute monoblastic leukemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute monoblastic leukemia' SubClassOf 'disease' + 'Acute monoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Acute monoblastic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute monoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute monoblastic leukemia' SubClassOf 'disease' + 'Acute monoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_513 Label: Acute lymphoblastic leukemia - 'Acute lymphoblastic leukemia' SubClassOf 'group of disorders' - 'Acute lymphoblastic leukemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute lymphoblastic leukemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Acute lymphoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lymphoblastic leukemia' SubClassOf 'group of disorders' + 'Acute lymphoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lymphoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lymphoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Acute lymphoblastic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lymphoblastic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_512 Label: Metachromatic leukodystrophy - 'Metachromatic leukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Metachromatic leukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Metabolic disease with dementia' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Metachromatic leukodystrophy' SubClassOf 'disease' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Metachromatic leukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'Metachromatic leukodystrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf 'disease' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with dementia' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Metachromatic leukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Metachromatic leukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metachromatic leukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_511 Label: Maple syrup urine disease - 'Maple syrup urine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Maple syrup urine disease' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' - 'Maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maple syrup urine disease' SubClassOf 'disease' - 'Maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.86"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.78"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of branched-chain amino acid metabolism' + 'Maple syrup urine disease' SubClassOf 'disease' + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Maple syrup urine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Maple syrup urine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Maple syrup urine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.79"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_371358 Label: phosphatidylinositol glycan anchor biosynthesis, class T - 'phosphatidylinositol glycan anchor biosynthesis, class T' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class T' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class T' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class T' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class T' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q12-q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_329478 Label: Adult-onset distal myopathy due to VCP mutation - 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'disease' - 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'disease' + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_510 Label: Lesch-Nyhan syndrome - 'Lesch-Nyhan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lesch-Nyhan syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lesch-Nyhan syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lesch-Nyhan syndrome' SubClassOf 'part_of' some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' - 'Lesch-Nyhan syndrome' SubClassOf 'disease' + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' + 'Lesch-Nyhan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Lesch-Nyhan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf 'disease' + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Lesch-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_231573 Label: Congenital erosive and vesicular dermatosis - 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital erosive and vesicular dermatosis' SubClassOf 'disease' - 'Congenital erosive and vesicular dermatosis' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital erosive and vesicular dermatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital erosive and vesicular dermatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Congenital erosive and vesicular dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital erosive and vesicular dermatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119763 Label: synuclein, alpha (non A4 component of amyloid precursor) - 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf 'gene' - 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' - 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' + 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Young adult-onset Parkinsonism' + 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string + 'synuclein, alpha (non A4 component of amyloid precursor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_247861 Label: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies - 'Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' - 'Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies' SubClassOf 'part_of' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile rheumatoid factor-negative polyarthritis' Class: http://www.orpha.net/ORDO/Orphanet_119761 Label: synaptosomal-associated protein, 29kDa - 'synaptosomal-associated protein, 29kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'CEDNIK syndrome' - 'synaptosomal-associated protein, 29kDa' SubClassOf 'gene' + 'synaptosomal-associated protein, 29kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'synaptosomal-associated protein, 29kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'CEDNIK syndrome' + 'synaptosomal-associated protein, 29kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_244395 Label: BMP binding endothelial regulator - 'BMP binding endothelial regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphanospondylodysostosis' - 'BMP binding endothelial regulator' SubClassOf 'gene' + 'BMP binding endothelial regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BMP binding endothelial regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'BMP binding endothelial regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphanospondylodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_268829 Label: Basal encephalocele - 'Basal encephalocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Basal encephalocele' SubClassOf 'clinical subtype' - 'Basal encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' + 'Basal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' + 'Basal encephalocele' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_247868 Label: NLRP12-associated hereditary periodic fever syndrome - 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' - 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'disease' - 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary periodic fever syndrome' + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_330780 Label: diacylglycerol kinase, epsilon 64kDa - 'diacylglycerol kinase, epsilon 64kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hemolytic-uremic syndrome with DGKE deficiency' - 'diacylglycerol kinase, epsilon 64kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' - 'diacylglycerol kinase, epsilon 64kDa' SubClassOf 'gene' + 'diacylglycerol kinase, epsilon 64kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'diacylglycerol kinase, epsilon 64kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Atypical hemolytic-uremic syndrome with DGKE deficiency' + 'diacylglycerol kinase, epsilon 64kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22"^^http://www.w3.org/2001/XMLSchema#string + 'diacylglycerol kinase, epsilon 64kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_166463 Label: Epilepsy syndrome - 'Epilepsy syndrome' SubClassOf 'group of disorders' + 'Epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120279 Label: tripartite motif containing 33 - 'tripartite motif containing 33' SubClassOf 'gene' - 'tripartite motif containing 33' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'tripartite motif containing 33' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripartite motif containing 33' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'tripartite motif containing 33' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_206988 Label: Infectious, fungal or parasitic myopathy - 'Infectious, fungal or parasitic myopathy' SubClassOf 'group of disorders' + 'Infectious, fungal or parasitic myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268843 Label: Malformation of the neurenteric canal, spinal cord and column - 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'group of disorders' + 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329481 Label: Lipoprotein glomerulopathy - 'Lipoprotein glomerulopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Lipoprotein glomerulopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lipoprotein glomerulopathy' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Lipoprotein glomerulopathy' SubClassOf 'disease' - 'Lipoprotein glomerulopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lipoprotein glomerulopathy' SubClassOf 'part_of' some 'Rare syndromic dyslipidemia' + 'Lipoprotein glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndromic dyslipidemia' + 'Lipoprotein glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Lipoprotein glomerulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lipoprotein glomerulopathy' SubClassOf 'disease' + 'Lipoprotein glomerulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_206985 Label: Drug and/or toxic myopathy - 'Drug and/or toxic myopathy' SubClassOf 'group of disorders' + 'Drug and/or toxic myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166469 Label: Chromosomal anomaly with epilepsy as a major feature - 'Chromosomal anomaly with epilepsy as a major feature' SubClassOf 'group of disorders' + 'Chromosomal anomaly with epilepsy as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166466 Label: Neurocutaneous syndrome with epilepsy - 'Neurocutaneous syndrome with epilepsy' SubClassOf 'group of disorders' + 'Neurocutaneous syndrome with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317781 Label: transmembrane protein 165 - 'transmembrane protein 165' SubClassOf 'gene' - 'transmembrane protein 165' SubClassOf 'Disease-causing germline mutation(s) in' some 'TMEM165-CDG' + 'transmembrane protein 165' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 165' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 165' SubClassOf 'Disease-causing germline mutation(s) in' some 'TMEM165-CDG' Class: http://www.orpha.net/ORDO/Orphanet_120273 Label: tripartite motif containing 32 - 'tripartite motif containing 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2H' - 'tripartite motif containing 32' SubClassOf 'gene' - 'tripartite motif containing 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'tripartite motif containing 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2H' + 'tripartite motif containing 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'tripartite motif containing 32' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'tripartite motif containing 32' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206982 Label: Muscular tumor - 'Muscular tumor' SubClassOf 'group of disorders' + 'Muscular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_501 Label: Lafora disease - 'Lafora disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Lafora disease' SubClassOf 'disease' - 'Lafora disease' SubClassOf 'part_of' some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Lafora disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lafora disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lafora disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lafora disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Lafora disease' SubClassOf 'disease' + 'Lafora disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lafora disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lafora disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Lafora disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Lafora disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_231568 Label: Generalized dominant dystrophic epidermolysis bullosa - 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'disease' - 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some 'Unknown' + 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'disease' + 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_500 Label: LEOPARD syndrome - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'LEOPARD syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Palpebral lentiginosis' - 'LEOPARD syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'LEOPARD syndrome' SubClassOf 'malformation syndrome' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'LEOPARD syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'LEOPARD syndrome' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'LEOPARD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'LEOPARD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'LEOPARD syndrome' SubClassOf 'malformation syndrome' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'LEOPARD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral lentiginosis' Class: http://www.orpha.net/ORDO/Orphanet_119754 Label: sphingomyelin phosphodiesterase 1, acid lysosomal - 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type A' - 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type B' - 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf 'gene' + 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type A' + 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Niemann-Pick disease type B' + 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4-p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'sphingomyelin phosphodiesterase 1, acid lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_503 Label: Autosomal dominant Larsen syndrome - 'Autosomal dominant Larsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant Larsen syndrome' SubClassOf 'part_of' some 'Filamin-related bone disorder' - 'Autosomal dominant Larsen syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Autosomal dominant Larsen syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Autosomal dominant Larsen syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Autosomal dominant Larsen syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant Larsen syndrome' SubClassOf 'malformation syndrome' - 'Autosomal dominant Larsen syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Autosomal dominant Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Autosomal dominant Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Autosomal dominant Larsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant Larsen syndrome' SubClassOf 'malformation syndrome' + 'Autosomal dominant Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119757 Label: snail family zinc finger 2 - 'snail family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' - 'snail family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Piebaldism' - 'snail family zinc finger 2' SubClassOf 'gene' + 'snail family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'snail family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' + 'snail family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'snail family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Piebaldism' Class: http://www.orpha.net/ORDO/Orphanet_502 Label: Langer-Giedion syndrome - 'Langer-Giedion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Langer-Giedion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Langer-Giedion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Langer-Giedion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Langer-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Langer-Giedion syndrome' SubClassOf 'malformation syndrome' - 'Langer-Giedion syndrome' SubClassOf 'part_of' some 'Trichorhinophalangeal syndrome' - 'Langer-Giedion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' + 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' + 'Langer-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Trichorhinophalangeal syndrome' + 'Langer-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Langer-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Langer-Giedion syndrome' SubClassOf 'malformation syndrome' + 'Langer-Giedion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_119750 Label: survival of motor neuron 2, centromeric - 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 2' - 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 3' - 'survival of motor neuron 2, centromeric' SubClassOf 'gene' - 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 1' - 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 4' + 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 2' + 'survival of motor neuron 2, centromeric' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 3' + 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 1' + 'survival of motor neuron 2, centromeric' SubClassOf 'Modifying germline mutation in' some 'Proximal spinal muscular atrophy type 4' + 'survival of motor neuron 2, centromeric' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238475 Label: Familial hypercholanemia - 'Familial hypercholanemia' SubClassOf 'disease' - 'Familial hypercholanemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial hypercholanemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial hypercholanemia' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Familial hypercholanemia' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Familial hypercholanemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial hypercholanemia' SubClassOf 'disease' + 'Familial hypercholanemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial hypercholanemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Familial hypercholanemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial hypercholanemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Familial hypercholanemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial hypercholanemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_247871 Label: Vitiligo-associated autoimmune disease - 'Vitiligo-associated autoimmune disease' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' - 'Vitiligo-associated autoimmune disease' SubClassOf 'disease' - 'Vitiligo-associated autoimmune disease' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'Vitiligo-associated autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Vitiligo-associated autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed autoinflammatory and autoimmune syndrome' + 'Vitiligo-associated autoimmune disease' SubClassOf 'disease' + 'Vitiligo-associated autoimmune disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Vitiligo-associated autoimmune disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Vitiligo-associated autoimmune disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_268838 Label: Leptomyelolipoma - 'Leptomyelolipoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Leptomyelolipoma' SubClassOf 'morphological anomaly' - 'Leptomyelolipoma' SubClassOf 'part_of' some 'Lipoma associated with neurospinal dysraphism' + 'Leptomyelolipoma' SubClassOf 'morphological anomaly' + 'Leptomyelolipoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoma associated with neurospinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_43119 Label: Acute poisoning by drugs with membrane-stabilizing effect - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'part_of' some 'Rare intoxication due to medical products' + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_330772 Label: transmembrane protein 38B - 'transmembrane protein 38B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'transmembrane protein 38B' SubClassOf 'gene' + 'transmembrane protein 38B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 38B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'transmembrane protein 38B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_275543 Label: L1 syndrome - 'L1 syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'L1 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'L1 syndrome' SubClassOf 'malformation syndrome' - 'L1 syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'L1 syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'L1 syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'L1 syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'L1 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'L1 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'L1 syndrome' SubClassOf 'malformation syndrome' + 'L1 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_119781 Label: son of sevenless homolog 1 (Drosophila) - 'son of sevenless homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis' - 'son of sevenless homolog 1 (Drosophila)' SubClassOf 'gene' - 'son of sevenless homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'son of sevenless homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Noonan syndrome' + 'son of sevenless homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'son of sevenless homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis' + 'son of sevenless homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_268810 Label: Posterior meningocele - 'Posterior meningocele' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Posterior meningocele' SubClassOf 'morphological anomaly' - 'Posterior meningocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Posterior meningocele' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Posterior meningocele' SubClassOf 'has_inheritance' some 'sporadic' - 'Posterior meningocele' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Posterior meningocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Posterior meningocele' SubClassOf 'morphological anomaly' + 'Posterior meningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Posterior meningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Posterior meningocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Posterior meningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Posterior meningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_120204 Label: tumor protein p53 - 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' - 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome' - 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' - 'tumor protein p53' SubClassOf 'Major susceptibility factor in' some 'Adrenocortical carcinoma' - 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Essential thrombocythemia' - 'tumor protein p53' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' - 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Papilloma of choroid plexus' - 'tumor protein p53' SubClassOf 'gene' - 'tumor protein p53' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' + 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome' + 'tumor protein p53' SubClassOf 'Major susceptibility factor in' some 'Adrenocortical carcinoma' + 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'tumor protein p53' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Essential thrombocythemia' + 'tumor protein p53' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' + 'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Papilloma of choroid plexus' + 'tumor protein p53' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'tumor protein p53' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'tumor protein p53' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_169402 Label: leucine rich transmembrane and O-methyltransferase domain containing - 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'gene' + 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120201 Label: torsin family 1, member A (torsin A) - 'torsin family 1, member A (torsin A)' SubClassOf 'Candidate gene tested in' some 'Myoclonus-dystonia syndrome' - 'torsin family 1, member A (torsin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset generalized limb-onset dystonia' - 'torsin family 1, member A (torsin A)' SubClassOf 'gene' + 'torsin family 1, member A (torsin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'torsin family 1, member A (torsin A)' SubClassOf 'Candidate gene tested in' some 'Myoclonus-dystonia syndrome' + 'torsin family 1, member A (torsin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset generalized limb-onset dystonia' + 'torsin family 1, member A (torsin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'torsin family 1, member A (torsin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q32-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_169405 Label: TSEN34 tRNA splicing endonuclease subunit - 'TSEN34 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' - 'TSEN34 tRNA splicing endonuclease subunit' SubClassOf 'gene' + 'TSEN34 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TSEN34 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'TSEN34 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' Class: http://www.orpha.net/ORDO/Orphanet_247839 Label: Oligoarticular juvenile arthritis with anti-nuclear antibodies - 'Oligoarticular juvenile arthritis with anti-nuclear antibodies' SubClassOf 'part_of' some 'Oligoarticular juvenile arthritis' - 'Oligoarticular juvenile arthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Oligoarticular juvenile arthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Oligoarticular juvenile arthritis with anti-nuclear antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_268813 Label: Myelocystocele - 'Myelocystocele' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Myelocystocele' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Myelocystocele' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Myelocystocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Myelocystocele' SubClassOf 'has_inheritance' some 'sporadic' - 'Myelocystocele' SubClassOf 'morphological anomaly' + 'Myelocystocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Myelocystocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Myelocystocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myelocystocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Myelocystocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Myelocystocele' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_306773 Label: Hyperekplexia - 'Hyperekplexia' SubClassOf 'group of disorders' + 'Hyperekplexia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247846 Label: Oligoarticular juvenile arthritis without anti-nuclear antibodies - 'Oligoarticular juvenile arthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' - 'Oligoarticular juvenile arthritis without anti-nuclear antibodies' SubClassOf 'part_of' some 'Oligoarticular juvenile arthritis' + 'Oligoarticular juvenile arthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Oligoarticular juvenile arthritis without anti-nuclear antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_358431 Label: solute carrier family 35 (UDP-galactose transporter), member A2 - 'solute carrier family 35 (UDP-galactose transporter), member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A2-CDG' - 'solute carrier family 35 (UDP-galactose transporter), member A2' SubClassOf 'gene' + 'solute carrier family 35 (UDP-galactose transporter), member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (UDP-galactose transporter), member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (UDP-galactose transporter), member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A2-CDG' Class: http://www.orpha.net/ORDO/Orphanet_572 Label: Immunodeficiency by defective expression of HLA class 2 - 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'disease' - 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'disease' + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Immunodeficiency by defective expression of HLA class 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_570 Label: Moebius syndrome - 'Moebius syndrome' SubClassOf 'disease' - 'Moebius syndrome' SubClassOf 'part_of' some 'Paralytic facial malformation' - 'Moebius syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Moebius syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Moebius syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Moebius syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Moebius syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Moebius syndrome' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Moebius syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Moebius syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Moebius syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Moebius syndrome' SubClassOf 'part_of' some 'Nuclear oculomotor paralysis' + 'Moebius syndrome' SubClassOf 'disease' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paralytic facial malformation' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nuclear oculomotor paralysis' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' + 'Moebius syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Moebius syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306776 Label: Sporadic hyperekplexia - 'Sporadic hyperekplexia' SubClassOf 'disease' - 'Sporadic hyperekplexia' SubClassOf 'part_of' some 'Hyperekplexia' + 'Sporadic hyperekplexia' SubClassOf 'disease' + 'Sporadic hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_575 Label: Muckle-Wells syndrome - 'Muckle-Wells syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muckle-Wells syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Muckle-Wells syndrome' SubClassOf 'part_of' some 'Genetic urticaria' - 'Muckle-Wells syndrome' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' - 'Muckle-Wells syndrome' SubClassOf 'disease' - 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Muckle-Wells syndrome' SubClassOf 'part_of' some 'Rare urticaria' - 'Muckle-Wells syndrome' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Muckle-Wells syndrome' SubClassOf 'disease' + 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'Muckle-Wells syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryopyrin-associated periodic syndrome' + 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_576 Label: Mucolipidosis type 2 - 'Mucolipidosis type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucolipidosis type 2' SubClassOf 'part_of' some 'Mucolipidosis' - 'Mucolipidosis type 2' SubClassOf 'disease' - 'Mucolipidosis type 2' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucolipidosis type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mucolipidosis type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mucolipidosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucolipidosis' + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119786 Label: SRY (sex determining region Y)-box 10 - 'SRY (sex determining region Y)-box 10' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurologic Waardenburg-Shah syndrome' - 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' - 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' + 'SRY (sex determining region Y)-box 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'SRY (sex determining region Y)-box 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' + 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurologic Waardenburg-Shah syndrome' + 'SRY (sex determining region Y)-box 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' Class: http://www.orpha.net/ORDO/Orphanet_573 Label: Monilethrix - 'Monilethrix' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Monilethrix' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Monilethrix' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monilethrix' SubClassOf 'disease' - 'Monilethrix' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Monilethrix' SubClassOf 'has_prevalence' some 'Unknown' + 'Monilethrix' SubClassOf 'disease' + 'Monilethrix' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Monilethrix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' + 'Monilethrix' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Monilethrix' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monilethrix' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_311140 Label: SKI proto-oncogene - 'SKI proto-oncogene' SubClassOf 'gene' - 'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome' - 'SKI proto-oncogene' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' + 'SKI proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SKI proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome' + 'SKI proto-oncogene' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_574 Label: Monosomy 21 - 'Monosomy 21' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 21' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 21' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monosomy 21' SubClassOf 'malformation syndrome' - 'Monosomy 21' SubClassOf 'part_of' some 'Total autosomal monosomy' + 'Monosomy 21' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal monosomy' + 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 21' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Monosomy 21' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 21' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_579 Label: Mucopolysaccharidosis type 1 - 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Eyebrow hypertrophy' - 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 1' SubClassOf 'disease' - 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Mucopolysaccharidosis type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucopolysaccharidosis type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf 'disease' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.58"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow hypertrophy' + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' Class: http://www.orpha.net/ORDO/Orphanet_231556 Label: Late-onset localized junctional epidermolysis bullosa - intellectual disability - 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'disease' - 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' + 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'disease' + 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_311145 Label: potassium voltage-gated channel, shaker-related subfamily, beta member 2 - 'potassium voltage-gated channel, shaker-related subfamily, beta member 2' SubClassOf 'gene' - 'potassium voltage-gated channel, shaker-related subfamily, beta member 2' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' + 'potassium voltage-gated channel, shaker-related subfamily, beta member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, shaker-related subfamily, beta member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, shaker-related subfamily, beta member 2' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_577 Label: Mucolipidosis type 3 - 'Mucolipidosis type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucolipidosis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucolipidosis type 3' SubClassOf 'disease' - 'Mucolipidosis type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucolipidosis type 3' SubClassOf 'part_of' some 'Mucolipidosis' - 'Mucolipidosis type 3' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' + 'Mucolipidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucolipidosis' + 'Mucolipidosis type 3' SubClassOf 'disease' + 'Mucolipidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.89"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucolipidosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucolipidosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucolipidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucolipidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_238468 Label: Hypohidrotic ectodermal dysplasia - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Congenital alacrima' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'disease' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypohidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital alacrima' + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'disease' + 'Hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_578 Label: Mucolipidosis type 4 - 'Mucolipidosis type 4' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' - 'Mucolipidosis type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mucolipidosis type 4' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Mucolipidosis type 4' SubClassOf 'disease' - 'Mucolipidosis type 4' SubClassOf 'part_of' some 'Mucolipidosis' - 'Mucolipidosis type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mucolipidosis type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucolipidosis type 4' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Mucolipidosis type 4' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Mucolipidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Mucolipidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease' + 'Mucolipidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' + 'Mucolipidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Mucolipidosis type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucolipidosis type 4' SubClassOf 'disease' + 'Mucolipidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mucolipidosis type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119788 Label: SRY (sex determining region Y)-box 18 - 'SRY (sex determining region Y)-box 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis - lymphedema - telangiectasia' - 'SRY (sex determining region Y)-box 18' SubClassOf 'gene' + 'SRY (sex determining region Y)-box 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis - lymphedema - telangiectasia' + 'SRY (sex determining region Y)-box 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371333 Label: syntaxin 1A (brain) - 'syntaxin 1A (brain)' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' - 'syntaxin 1A (brain)' SubClassOf 'gene' + 'syntaxin 1A (brain)' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' + 'syntaxin 1A (brain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'syntaxin 1A (brain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_559 Label: Marinesco-Sj�gren syndrome - 'Marinesco-Sj�gren syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Marinesco-Sj�gren syndrome' SubClassOf 'part_of' some 'Cerebral disease with cataract' - 'Marinesco-Sj�gren syndrome' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' - 'Marinesco-Sj�gren syndrome' SubClassOf 'disease' - 'Marinesco-Sj�gren syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Marinesco-Sj�gren syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Marinesco-Sj�gren syndrome' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Marinesco-Sj�gren syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Marinesco-Sj�gren syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Marinesco-Sj�gren syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Marinesco-Sj�gren syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Marinesco-Sj�gren syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Marinesco-Sj�gren syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Marinesco-Sj�gren syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebellar ataxia with peripheral neuropathy' + 'Marinesco-Sj�gren syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Marinesco-Sj�gren syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral disease with cataract' + 'Marinesco-Sj�gren syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Marinesco-Sj�gren syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231537 Label: Hermansky-Pudlak syndrome type 8 - 'Hermansky-Pudlak syndrome type 8' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome type 8' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' + 'Hermansky-Pudlak syndrome type 8' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_275555 Label: Preeclampsia - 'Preeclampsia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Preeclampsia' SubClassOf 'disease' - 'Preeclampsia' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Preeclampsia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Preeclampsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Preeclampsia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119771 Label: small nuclear ribonucleoprotein polypeptide N - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'gene' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Angelman syndrome' - 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Angelman syndrome' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'small nuclear ribonucleoprotein polypeptide N' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268820 Label: Cranial meningocele - 'Cranial meningocele' SubClassOf 'part_of' some 'Cephalocele' - 'Cranial meningocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Cranial meningocele' SubClassOf 'morphological anomaly' + 'Cranial meningocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cephalocele' + 'Cranial meningocele' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_268823 Label: Occipital encephalocele - 'Occipital encephalocele' SubClassOf 'clinical subtype' - 'Occipital encephalocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Occipital encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' + 'Occipital encephalocele' SubClassOf 'clinical subtype' + 'Occipital encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_268826 Label: Parietal encephalocele - 'Parietal encephalocele' SubClassOf 'has_prevalence' some 'Unknown' - 'Parietal encephalocele' SubClassOf 'clinical subtype' - 'Parietal encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' + 'Parietal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' + 'Parietal encephalocele' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306762 Label: Progressive epilepsy and/or ataxia with myoclonus as a major feature - 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of disorders' + 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268817 Label: Cephalocele - 'Cephalocele' SubClassOf 'group of disorders' + 'Cephalocele' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238459 Label: SLC35A1-CDG - 'SLC35A1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'SLC35A1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SLC35A1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SLC35A1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'SLC35A1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SLC35A1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with nephropathy as a major feature' - 'SLC35A1-CDG' SubClassOf 'disease' + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SLC35A1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SLC35A1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'SLC35A1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'SLC35A1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306765 Label: Motor stereotypies - 'Motor stereotypies' SubClassOf 'group of disorders' + 'Motor stereotypies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120207 Label: tumor protein p63 - 'tumor protein p63' SubClassOf 'gene' - 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Limb-mammary syndrome' - 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' - 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ankyloblepharon - ectodermal defects - cleft lip/palate' - 'tumor protein p63' SubClassOf 'Major susceptibility factor in' some 'Bladder exstrophy' - 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADULT syndrome' - 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'EEC syndrome' + 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Limb-mammary syndrome' + 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ankyloblepharon - ectodermal defects - cleft lip/palate' + 'tumor protein p63' SubClassOf 'Major susceptibility factor in' some 'Bladder exstrophy' + 'tumor protein p63' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27-q29"^^http://www.w3.org/2001/XMLSchema#string + 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADULT syndrome' + 'tumor protein p63' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247854 Label: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies - 'Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' - 'Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies' SubClassOf 'part_of' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile rheumatoid factor-negative polyarthritis' + 'Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_560 Label: Marshall syndrome - 'Marshall syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Marshall syndrome' SubClassOf 'malformation syndrome' - 'Marshall syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Marshall syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marshall syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Marshall syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Marshall syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marshall syndrome' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Marshall syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Marshall syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'Marshall syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marshall syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Marshall syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Marshall syndrome' SubClassOf 'malformation syndrome' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Marshall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Marshall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Marshall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Marshall syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306768 Label: Rare paroxysmal movement disorder - 'Rare paroxysmal movement disorder' SubClassOf 'group of disorders' + 'Rare paroxysmal movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_561 Label: Marshall-Smith syndrome - 'Marshall-Smith syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marshall-Smith syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marshall-Smith syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Marshall-Smith syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Marshall-Smith syndrome' SubClassOf 'malformation syndrome' - 'Marshall-Smith syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Marshall-Smith syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Marshall-Smith syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Marshall-Smith syndrome' SubClassOf 'malformation syndrome' + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Marshall-Smith syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marshall-Smith syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_246681 Label: neurotrophic tyrosine kinase, receptor, type 3 - 'neurotrophic tyrosine kinase, receptor, type 3' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' - 'neurotrophic tyrosine kinase, receptor, type 3' SubClassOf 'gene' + 'neurotrophic tyrosine kinase, receptor, type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24-q25"^^http://www.w3.org/2001/XMLSchema#string + 'neurotrophic tyrosine kinase, receptor, type 3' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' + 'neurotrophic tyrosine kinase, receptor, type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_562 Label: McCune-Albright syndrome - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'McCune-Albright syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Peripheral precocious puberty' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'McCune-Albright syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Precocious puberty' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' - 'McCune-Albright syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'McCune-Albright syndrome' SubClassOf 'disease' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral precocious puberty' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'McCune-Albright syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'McCune-Albright syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precocious puberty' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' + 'McCune-Albright syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'McCune-Albright syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_563 Label: Peripartum cardiomyopathy - 'Peripartum cardiomyopathy' SubClassOf 'part_of' some 'Non-familial dilated cardiomyopathy' - 'Peripartum cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Peripartum cardiomyopathy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Peripartum cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Peripartum cardiomyopathy' SubClassOf 'disease' + 'Peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial dilated cardiomyopathy' + 'Peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Peripartum cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Peripartum cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410086) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "334.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "89.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Peripartum cardiomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119773 Label: sorting nexin 3 - 'sorting nexin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'MMEP syndrome' - 'sorting nexin 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_564 Label: Meckel syndrome - 'Meckel syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Meckel syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Meckel syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Meckel syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Meckel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Meckel syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Meckel syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Meckel syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Meckel syndrome' SubClassOf 'malformation syndrome' - 'Meckel syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Meckel syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Meckel syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Meckel syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Meckel syndrome' SubClassOf 'part_of' some 'Cerebral disease with cataract' - 'Meckel syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Meckel syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Meckel syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Meckel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Meckel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Meckel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Meckel syndrome' SubClassOf 'malformation syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Meckel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Meckel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Meckel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Meckel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_565 Label: Menkes disease - 'Menkes disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Menkes disease' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Menkes disease' SubClassOf 'disease' - 'Menkes disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Menkes disease' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' - 'Menkes disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Menkes disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Menkes disease' SubClassOf 'part_of' some 'Metal transport or utilization disorder with epilepsy' - 'Menkes disease' SubClassOf 'part_of' some 'Eyebrow/eyelashes structural anomaly' - 'Menkes disease' SubClassOf 'part_of' some 'Disorder of copper metabolism' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes structural anomaly' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'Menkes disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Menkes disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Menkes disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Menkes disease' SubClassOf 'disease' + 'Menkes disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Menkes disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metal transport or utilization disorder with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_566 Label: Congenital microcoria - 'Congenital microcoria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital microcoria' SubClassOf 'malformation syndrome' - 'Congenital microcoria' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital microcoria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital microcoria' SubClassOf 'part_of' some 'Iridogoniodysgenesis' - 'Congenital microcoria' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' + 'Congenital microcoria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital microcoria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital microcoria' SubClassOf 'malformation syndrome' + 'Congenital microcoria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Congenital microcoria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital microcoria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridogoniodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_43117 Label: Acute tricyclic antidepressant poisoning - 'Acute tricyclic antidepressant poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute tricyclic antidepressant poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute tricyclic antidepressant poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute tricyclic antidepressant poisoning' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute tricyclic antidepressant poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Acute tricyclic antidepressant poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' + 'Acute tricyclic antidepressant poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute tricyclic antidepressant poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + 'Acute tricyclic antidepressant poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Acute tricyclic antidepressant poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute tricyclic antidepressant poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119776 Label: superoxide dismutase 1, soluble - 'superoxide dismutase 1, soluble' SubClassOf 'gene' - 'superoxide dismutase 1, soluble' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'superoxide dismutase 1, soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'superoxide dismutase 1, soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.11"^^http://www.w3.org/2001/XMLSchema#string + 'superoxide dismutase 1, soluble' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_567 Label: 22q11.2 deletion syndrome - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 22' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Immunodeficiency due to absence of thymus' - '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - '22q11.2 deletion syndrome' SubClassOf 'malformation syndrome' - '22q11.2 deletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - '22q11.2 deletion syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with a chromosomal anomaly' - '22q11.2 deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '22q11.2 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.3"^^http://www.w3.org/2001/XMLSchema#string) + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 22' + '22q11.2 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "37.5"^^http://www.w3.org/2001/XMLSchema#string) + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '22q11.2 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.8"^^http://www.w3.org/2001/XMLSchema#string) + '22q11.2 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + '22q11.2 deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + '22q11.2 deletion syndrome' SubClassOf 'malformation syndrome' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to absence of thymus' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with a chromosomal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_43116 Label: Serotonin syndrome - 'Serotonin syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Serotonin syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Serotonin syndrome' SubClassOf 'disease' - 'Serotonin syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Serotonin syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Serotonin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Serotonin syndrome' SubClassOf 'disease' + 'Serotonin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Serotonin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_202940 Label: Anomaly of puberty or/and menstrual cycle of genetic origin - 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'group of disorders' + 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_568 Label: Microphthalmia, Lenz type - 'Microphthalmia, Lenz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia, Lenz type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Microphthalmia, Lenz type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia, Lenz type' SubClassOf 'has_prevalence' some 'Unknown' - 'Microphthalmia, Lenz type' SubClassOf 'malformation syndrome' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Microphthalmia, Lenz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia, Lenz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia, Lenz type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_43115 Label: Hereditary myopathy with lactic acidosis due to ISCU deficiency - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'disease' - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'part_of' some 'Metabolic myopathy' - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'part_of' some 'Exercise intolerance with lactic acidosis' - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'disease' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exercise intolerance with lactic acidosis' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic myopathy' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_238455 Label: Infantile dystonia-parkinsonism - 'Infantile dystonia-parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Infantile dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Infantile dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile dystonia-parkinsonism' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Infantile dystonia-parkinsonism' SubClassOf 'disease' - 'Infantile dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile dystonia-parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Infantile dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile dystonia-parkinsonism' SubClassOf 'disease' + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Infantile dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_569 Label: Familial or sporadic hemiplegic migraine - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Rare genetic headache' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'disease' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Rare headache' - 'Familial or sporadic hemiplegic migraine' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Familial or sporadic hemiplegic migraine' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign partial infantile seizures' + 'Familial or sporadic hemiplegic migraine' SubClassOf 'disease' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Familial or sporadic hemiplegic migraine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Familial or sporadic hemiplegic migraine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial or sporadic hemiplegic migraine' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic headache' Class: http://www.orpha.net/ORDO/Orphanet_279838 Label: cytochrome P450, family 24, subfamily A, polypeptide 1 - 'cytochrome P450, family 24, subfamily A, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 24, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive infantile hypercalcemia' + 'cytochrome P450, family 24, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 24, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 24, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive infantile hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_246689 Label: cAMP responsive element binding protein 1 - 'cAMP responsive element binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' - 'cAMP responsive element binding protein 1' SubClassOf 'gene' + 'cAMP responsive element binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'cAMP responsive element binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' + 'cAMP responsive element binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_275523 Label: Dianzani autoimmune lymphoproliferative disease - 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'disease' - 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'disease' + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_202948 Label: Syndromic microphthalmia - 'Syndromic microphthalmia' SubClassOf 'group of disorders' + 'Syndromic microphthalmia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371324 Label: zinc finger protein 365 - 'zinc finger protein 365' SubClassOf 'gene' - 'zinc finger protein 365' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'zinc finger protein 365' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 365' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 365' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' Class: http://www.orpha.net/ORDO/Orphanet_231527 Label: phosphatidylinositol glycan anchor biosynthesis, class A - 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ferro-cerebro-cutaneous syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Paroxysmal nocturnal hemoglobinuria' - 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' - 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Paroxysmal nocturnal hemoglobinuria' + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ferro-cerebro-cutaneous syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_549 Label: Legionellosis - 'Legionellosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Legionellosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Legionellosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Legionellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Legionellosis' SubClassOf 'disease' + 'Legionellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Legionellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Legionellosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Legionellosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Legionellosis' SubClassOf 'disease' + 'Legionellosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_548 Label: Leprosy - 'Leprosy' SubClassOf 'disease' - 'Leprosy' SubClassOf 'part_of' some 'Infectious disease with peripheral neuropathy' - 'Leprosy' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Leprosy' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with peripheral neuropathy' + 'Leprosy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Leprosy' SubClassOf 'disease' + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Leprosy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Leprosy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_371321 Label: purinergic receptor P2Y, G-protein coupled, 11 - 'purinergic receptor P2Y, G-protein coupled, 11' SubClassOf 'gene' - 'purinergic receptor P2Y, G-protein coupled, 11' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'purinergic receptor P2Y, G-protein coupled, 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'purinergic receptor P2Y, G-protein coupled, 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'purinergic receptor P2Y, G-protein coupled, 11' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' Class: http://www.orpha.net/ORDO/Orphanet_166433 Label: Reading seizures - 'Reading seizures' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Reading seizures' SubClassOf 'disease' + 'Reading seizures' SubClassOf 'disease' + 'Reading seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_120223 Label: tropomyosin 2 (beta) - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'tropomyosin 2 (beta)' SubClassOf 'gene' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trismus - pseudocamptodactyly' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' - 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cap myopathy' + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'tropomyosin 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'tropomyosin 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cap myopathy' + 'tropomyosin 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_166430 Label: Micturation-induced seizures - 'Micturation-induced seizures' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Micturation-induced seizures' SubClassOf 'disease' + 'Micturation-induced seizures' SubClassOf 'disease' + 'Micturation-induced seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_120220 Label: tropomyosin 1 (alpha) - 'tropomyosin 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'tropomyosin 1 (alpha)' SubClassOf 'gene' - 'tropomyosin 1 (alpha)' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'tropomyosin 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'tropomyosin 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'tropomyosin 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tropomyosin 1 (alpha)' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_120227 Label: tropomyosin 3 - 'tropomyosin 3' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'tropomyosin 3' SubClassOf 'gene' - 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cap myopathy' - 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' - 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' - 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'tropomyosin 3' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' + 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cap myopathy' + 'tropomyosin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'tropomyosin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' + 'tropomyosin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' Class: http://www.orpha.net/ORDO/Orphanet_550 Label: MELAS syndrome - 'MELAS syndrome' SubClassOf 'disease' - 'MELAS syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'MELAS syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'MELAS syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'MELAS syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'MELAS syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'MELAS syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MELAS syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'MELAS syndrome' SubClassOf 'disease' + 'MELAS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'MELAS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'MELAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'MELAS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'MELAS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_247820 Label: Ectodermal dysplasia - syndactyly syndrome - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120218 Label: triosephosphate isomerase 1 - 'triosephosphate isomerase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triose phosphate-isomerase deficiency' - 'triosephosphate isomerase 1' SubClassOf 'gene' + 'triosephosphate isomerase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'triosephosphate isomerase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triose phosphate-isomerase deficiency' + 'triosephosphate isomerase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_246653 Label: myosin light chain kinase - 'myosin light chain kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'myosin light chain kinase' SubClassOf 'gene' + 'myosin light chain kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'myosin light chain kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin light chain kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247827 Label: Ectodermal dysplasia - cutaneous syndactyly syndrome - 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_557 Label: Isolated anorectal malformation - 'Isolated anorectal malformation' SubClassOf 'group of disorders' - 'Isolated anorectal malformation' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Isolated anorectal malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "78.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Isolated anorectal malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "53.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "28.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf 'group of disorders' + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "60.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "28.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anorectal malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_558 Label: Marfan syndrome - 'Marfan syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Marfan syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'Marfan syndrome' SubClassOf 'part_of' some 'Lens position anomaly' - 'Marfan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marfan syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Marfan syndrome' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'Marfan syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Marfan syndrome' SubClassOf 'disease' - 'Marfan syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Marfan syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Marfan syndrome' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Marfan syndrome' SubClassOf 'disease' + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Marfan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Marfan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Marfan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_311122 Label: Fas (TNFRSF6)-associated via death domain - 'Fas (TNFRSF6)-associated via death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'FADD-related immunodeficiency' - 'Fas (TNFRSF6)-associated via death domain' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' - 'Fas (TNFRSF6)-associated via death domain' SubClassOf 'gene' + 'Fas (TNFRSF6)-associated via death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'FADD-related immunodeficiency' + 'Fas (TNFRSF6)-associated via death domain' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' + 'Fas (TNFRSF6)-associated via death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fas (TNFRSF6)-associated via death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238446 Label: 15q11q13 microduplication syndrome - '15q11q13 microduplication syndrome' SubClassOf 'malformation syndrome' - '15q11q13 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '15q11q13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '15q11q13 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 15' - '15q11q13 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '15q11q13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '15q11q13 microduplication syndrome' SubClassOf 'malformation syndrome' + '15q11q13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 15' + '15q11q13 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q11q13 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '15q11q13 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_556 Label: Malakoplakia - 'Malakoplakia' SubClassOf 'disease' - 'Malakoplakia' SubClassOf 'part_of' some 'Rare intestinal disease' - 'Malakoplakia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malakoplakia' SubClassOf 'has_prevalence' some 'Unknown' + 'Malakoplakia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malakoplakia' SubClassOf 'disease' + 'Malakoplakia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Malakoplakia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_371315 Label: cathepsin H - 'cathepsin H' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'cathepsin H' SubClassOf 'gene' + 'cathepsin H' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'cathepsin H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_553 Label: Cushing syndrome - 'Cushing syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cushing syndrome' SubClassOf 'group of disorders' - 'Cushing syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cushing syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cushing syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Cushing syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Cushing syndrome' SubClassOf 'group of disorders' + 'Cushing syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.91"^^http://www.w3.org/2001/XMLSchema#string) + 'Cushing syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cushing syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cushing syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cushing syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_551 Label: MERRF syndrome - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'MERRF syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'MERRF syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'MERRF syndrome' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'MERRF syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'MERRF syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'MERRF syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'MERRF syndrome' SubClassOf 'disease' + 'MERRF syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'MERRF syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'MERRF syndrome' SubClassOf 'disease' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'MERRF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_552 Label: MODY syndrome - 'MODY syndrome' SubClassOf 'disease' - 'MODY syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'MODY syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'MODY syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MODY syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 2' - 'MODY syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'MODY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'MODY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'MODY syndrome' SubClassOf 'disease' + 'MODY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MODY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'MODY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 2' Class: http://www.orpha.net/ORDO/Orphanet_330748 Label: nucleic acid binding protein 1 - 'nucleic acid binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'nucleic acid binding protein 1' SubClassOf 'gene' + 'nucleic acid binding protein 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'nucleic acid binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleic acid binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_275517 Label: Autoimmune lymphoproliferative syndrome with recurrent viral infections - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'disease' - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'disease' + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_231531 Label: Hermansky-Pudlak syndrome type 7 - 'Hermansky-Pudlak syndrome type 7' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome type 7' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 7' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166427 Label: Startle epilepsy - 'Startle epilepsy' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Startle epilepsy' SubClassOf 'disease' + 'Startle epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Startle epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119790 Label: SRY (sex determining region Y)-box 2 - 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'SRY (sex determining region Y)-box 2' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anophthalmia/microphthalmia - esophageal atresia' - 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'SRY (sex determining region Y)-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.3-q27"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'SRY (sex determining region Y)-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anophthalmia/microphthalmia - esophageal atresia' + 'SRY (sex determining region Y)-box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_97120 Label: Distal arthrogryposis - 'Distal arthrogryposis' SubClassOf 'group of disorders' + 'Distal arthrogryposis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_275534 Label: Myostatin-related muscle hypertrophy - 'Myostatin-related muscle hypertrophy' SubClassOf 'part_of' some 'Rare genetic disease' - 'Myostatin-related muscle hypertrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Myostatin-related muscle hypertrophy' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Myostatin-related muscle hypertrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Myostatin-related muscle hypertrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Myostatin-related muscle hypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Myostatin-related muscle hypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Myostatin-related muscle hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' + 'Myostatin-related muscle hypertrophy' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Myostatin-related muscle hypertrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119792 Label: SRY (sex determining region Y)-box 9 - 'SRY (sex determining region Y)-box 9' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Campomelic dysplasia' - 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Pierre Robin syndrome' - 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' - 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' + 'SRY (sex determining region Y)-box 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Campomelic dysplasia' + 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Pierre Robin syndrome' + 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' + 'SRY (sex determining region Y)-box 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_166424 Label: Thinking seizures - 'Thinking seizures' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Thinking seizures' SubClassOf 'disease' + 'Thinking seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Thinking seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_538 Label: Lymphangioleiomyomatosis - 'Lymphangioleiomyomatosis' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' - 'Lymphangioleiomyomatosis' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Lymphangioleiomyomatosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lymphangioleiomyomatosis' SubClassOf 'disease' - 'Lymphangioleiomyomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphangioleiomyomatosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.015"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Lymphangioleiomyomatosis' SubClassOf 'disease' + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.0135"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphangioleiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_330740 Label: ALG14, UDP-N-acetylglucosaminyltransferase subunit - 'ALG14, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' - 'ALG14, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'gene' + 'ALG14, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'ALG14, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG14, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_537 Label: Lyell syndrome - 'Lyell syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Lyell syndrome' SubClassOf 'clinical subtype' - 'Lyell syndrome' SubClassOf 'part_of' some 'Toxic epidermal necrolysis' - 'Lyell syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Lyell syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Lyell syndrome' SubClassOf 'clinical subtype' + 'Lyell syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lyell syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lyell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic epidermal necrolysis' Class: http://www.orpha.net/ORDO/Orphanet_166421 Label: Orgasm-induced seizures - 'Orgasm-induced seizures' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Orgasm-induced seizures' SubClassOf 'disease' + 'Orgasm-induced seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Orgasm-induced seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208508 Label: Autosomal dominant cerebellar ataxia type 2 - 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120231 Label: thiopurine S-methyltransferase - 'thiopurine S-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiopurine S-methyltransferase deficiency' - 'thiopurine S-methyltransferase' SubClassOf 'gene' + 'thiopurine S-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'thiopurine S-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiopurine S-methyltransferase deficiency' + 'thiopurine S-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268803 Label: small muscle protein, X-linked - 'small muscle protein, X-linked' SubClassOf 'gene' - 'small muscle protein, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' + 'small muscle protein, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'small muscle protein, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'small muscle protein, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_120233 Label: thyroid peroxidase - 'thyroid peroxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' - 'thyroid peroxidase' SubClassOf 'gene' + 'thyroid peroxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'thyroid peroxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string + 'thyroid peroxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120236 Label: tripeptidyl peptidase I - 'tripeptidyl peptidase I' SubClassOf 'gene' - 'tripeptidyl peptidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN2 disease' - 'tripeptidyl peptidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' + 'tripeptidyl peptidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tripeptidyl peptidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'tripeptidyl peptidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'CLN2 disease' + 'tripeptidyl peptidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_311118 Label: junctional adhesion molecule 3 - 'junctional adhesion molecule 3' SubClassOf 'gene' - 'junctional adhesion molecule 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' + 'junctional adhesion molecule 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q25"^^http://www.w3.org/2001/XMLSchema#string + 'junctional adhesion molecule 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' + 'junctional adhesion molecule 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_247834 Label: Occult macular dystrophy - 'Occult macular dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Occult macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Occult macular dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Occult macular dystrophy' SubClassOf 'disease' - 'Occult macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Occult macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Occult macular dystrophy' SubClassOf 'disease' + 'Occult macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Occult macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_358443 Label: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 - 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf 'gene' - 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'D,L-2-hydroxyglutaric aciduria' + 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'D,L-2-hydroxyglutaric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_311114 Label: ALX homeobox 1 - 'ALX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' - 'ALX homeobox 1' SubClassOf 'gene' + 'ALX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' + 'ALX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_544 Label: Diffuse large B-cell lymphoma - 'Diffuse large B-cell lymphoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Diffuse large B-cell lymphoma' SubClassOf 'group of disorders' - 'Diffuse large B-cell lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Diffuse large B-cell lymphoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Diffuse large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Diffuse large B-cell lymphoma' SubClassOf 'group of disorders' + 'Diffuse large B-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Diffuse large B-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Diffuse large B-cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Diffuse large B-cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_358448 Label: ankyrin 3, node of Ranvier (ankyrin G) - 'ankyrin 3, node of Ranvier (ankyrin G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability - hypotonia - spasticity - sleep disorder' - 'ankyrin 3, node of Ranvier (ankyrin G)' SubClassOf 'gene' + 'ankyrin 3, node of Ranvier (ankyrin G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability - hypotonia - spasticity - sleep disorder' + 'ankyrin 3, node of Ranvier (ankyrin G)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin 3, node of Ranvier (ankyrin G)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_545 Label: Follicular lymphoma - 'Follicular lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Follicular lymphoma' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' - 'Follicular lymphoma' SubClassOf 'disease' - 'Follicular lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Follicular lymphoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Follicular lymphoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Follicular lymphoma' SubClassOf 'disease' + 'Follicular lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Follicular lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Follicular lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Follicular lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' + 'Follicular lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Follicular lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_547 Label: Non-Hodgkin lymphoma - 'Non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Non-Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Non-Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Non-Hodgkin lymphoma' SubClassOf 'group of disorders' + 'Non-Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_540 Label: Familial hemophagocytic lymphohistiocytosis - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some 'Brain inflammatory disease' - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some 'Primary hemophagocytic lymphohistiocytosis' - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'disease' + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hemophagocytic lymphohistiocytosis' + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_541 Label: Primary cutaneous CD30+ T-cell lymphoproliferative disease - 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf 'group of disorders' - 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf 'group of disorders' + 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_542 Label: Primary cutaneous lymphoma - 'Primary cutaneous lymphoma' SubClassOf 'group of disorders' + 'Primary cutaneous lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Primary cutaneous lymphoma' SubClassOf 'group of disorders' + 'Primary cutaneous lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_543 Label: Burkitt lymphoma - 'Burkitt lymphoma' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'Burkitt lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Burkitt lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Burkitt lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Burkitt lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Burkitt lymphoma' SubClassOf 'disease' + 'Burkitt lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Burkitt lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Burkitt lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Burkitt lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Burkitt lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Burkitt lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Burkitt lymphoma' SubClassOf 'disease' + 'Burkitt lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_119797 Label: SP110 nuclear body protein - 'SP110 nuclear body protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatic veno-occlusive disease - immunodeficiency' - 'SP110 nuclear body protein' SubClassOf 'gene' + 'SP110 nuclear body protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SP110 nuclear body protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hepatic veno-occlusive disease - immunodeficiency' + 'SP110 nuclear body protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166418 Label: Eating seizures - 'Eating seizures' SubClassOf 'part_of' some 'Reflex epilepsy' - 'Eating seizures' SubClassOf 'disease' + 'Eating seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Reflex epilepsy' + 'Eating seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120309 Label: tuberous sclerosis 1 - 'tuberous sclerosis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tuberous sclerosis' - 'tuberous sclerosis 1' SubClassOf 'Major susceptibility factor in' some 'Isolated focal cortical dysplasia type IIb' - 'tuberous sclerosis 1' SubClassOf 'gene' - 'tuberous sclerosis 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphangioleiomyomatosis' + 'tuberous sclerosis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tuberous sclerosis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tuberous sclerosis' + 'tuberous sclerosis 1' SubClassOf 'Major susceptibility factor in' some 'Isolated focal cortical dysplasia type IIb' + 'tuberous sclerosis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'tuberous sclerosis 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphangioleiomyomatosis' Class: http://www.orpha.net/ORDO/Orphanet_583 Label: Mucopolysaccharidosis type 6 - 'Mucopolysaccharidosis type 6' SubClassOf 'disease' - 'Mucopolysaccharidosis type 6' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 6' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mucopolysaccharidosis type 6' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Mucopolysaccharidosis type 6' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucopolysaccharidosis type 6' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Mucopolysaccharidosis type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410040) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.059"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "286.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf 'disease' + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_582 Label: Mucopolysaccharidosis type 4 - 'Mucopolysaccharidosis type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucopolysaccharidosis type 4' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Mucopolysaccharidosis type 4' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 4' SubClassOf 'disease' - 'Mucopolysaccharidosis type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 4' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Mucopolysaccharidosis type 4' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.73"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf 'disease' + 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120307 Label: trichorhinophalangeal syndrome I - 'trichorhinophalangeal syndrome I' SubClassOf 'Role in the phenotype of' some 'Langer-Giedion syndrome' - 'trichorhinophalangeal syndrome I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichorhinophalangeal syndrome type 1 and 3' - 'trichorhinophalangeal syndrome I' SubClassOf 'gene' + 'trichorhinophalangeal syndrome I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'trichorhinophalangeal syndrome I' SubClassOf 'Role in the phenotype of' some 'Langer-Giedion syndrome' + 'trichorhinophalangeal syndrome I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichorhinophalangeal syndrome type 1 and 3' + 'trichorhinophalangeal syndrome I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_581 Label: Mucopolysaccharidosis type 3 - 'Mucopolysaccharidosis type 3' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 3' SubClassOf 'disease' - 'Mucopolysaccharidosis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucopolysaccharidosis type 3' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Mucopolysaccharidosis type 3' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Mucopolysaccharidosis type 3' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mucopolysaccharidosis type 3' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' - 'Mucopolysaccharidosis type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.57"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.87"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.91"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf 'disease' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.89"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.88"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_580 Label: Mucopolysaccharidosis type 2 - 'Mucopolysaccharidosis type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Mucopolysaccharidosis type 2' SubClassOf 'disease' - 'Mucopolysaccharidosis type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Ptosis' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Mucopolysaccharidosis with skin involvement' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Mucopolysaccharidosis type 2' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 2' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 2' SubClassOf 'disease' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis with skin involvement' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_587 Label: Muir-Torre syndrome - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Palpebral sebaceous gland tumor' - 'Muir-Torre syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Muir-Torre syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muir-Torre syndrome' SubClassOf 'disease' - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Benign tumor of palpebral epidermis' - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Hereditary nonpolyposis colon cancer' - 'Muir-Torre syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Muir-Torre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary nonpolyposis colon cancer' + 'Muir-Torre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral sebaceous gland tumor' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign tumor of palpebral epidermis' + 'Muir-Torre syndrome' SubClassOf 'disease' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_586 Label: Cystic fibrosis - 'Cystic fibrosis' SubClassOf 'disease' - 'Cystic fibrosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Cystic fibrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Cystic fibrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Genetic pancreatic disease' - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare genetic disorder with obstructive azoospermia' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pancreatic disease' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410026) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "21.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf 'disease' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "73.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disorder with obstructive azoospermia' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "28.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "28.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410055) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cystic fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "23.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "27.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "111.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cystic fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_585 Label: Multiple sulfatase deficiency - 'Multiple sulfatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple sulfatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Multiple sulfatase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Multiple sulfatase deficiency' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Multiple sulfatase deficiency' SubClassOf 'disease' + 'Multiple sulfatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Multiple sulfatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple sulfatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Multiple sulfatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple sulfatase deficiency' SubClassOf 'disease' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_406595 Label: syntaxin 3 - 'syntaxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microvillus inclusion disease' - 'syntaxin 3' SubClassOf 'gene' + 'syntaxin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Microvillus inclusion disease' + 'syntaxin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'syntaxin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_263746 Label: Y chromosome number anomaly - 'Y chromosome number anomaly' SubClassOf 'group of disorders' + 'Y chromosome number anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_584 Label: Mucopolysaccharidosis type 7 - 'Mucopolysaccharidosis type 7' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Mucopolysaccharidosis type 7' SubClassOf 'disease' - 'Mucopolysaccharidosis type 7' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mucopolysaccharidosis type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mucopolysaccharidosis type 7' SubClassOf 'part_of' some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucopolysaccharidosis type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 7' SubClassOf 'disease' + 'Mucopolysaccharidosis type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_589 Label: Myasthenia gravis - 'Myasthenia gravis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myasthenia gravis' SubClassOf 'disease' - 'Myasthenia gravis' SubClassOf 'part_of' some 'Acquired neuromuscular junction disease' - 'Myasthenia gravis' SubClassOf 'has_inheritance' some 'sporadic' + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Myasthenia gravis' SubClassOf 'disease' + 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neuromuscular junction disease' + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "31.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.94"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myasthenia gravis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myasthenia gravis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_588 Label: Muscle-eye-brain disease - 'Muscle-eye-brain disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Qualitative or quantitative defects of fukutin' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Qualitative or quantitative defects of FKRP' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Syndromic myopia' - 'Muscle-eye-brain disease' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' - 'Muscle-eye-brain disease' SubClassOf 'disease' - 'Muscle-eye-brain disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Muscle-eye-brain disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of fukutin' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Muscle-eye-brain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Muscle-eye-brain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Muscle-eye-brain disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Muscle-eye-brain disease' SubClassOf 'disease' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of FKRP' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_263749 Label: X and Y chromosomal anomaly - 'X and Y chromosomal anomaly' SubClassOf 'group of disorders' + 'X and Y chromosomal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289586 Label: Exfoliative ichthyosis - 'Exfoliative ichthyosis' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Exfoliative ichthyosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Exfoliative ichthyosis' SubClassOf 'disease' - 'Exfoliative ichthyosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Exfoliative ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Exfoliative ichthyosis' SubClassOf 'disease' + 'Exfoliative ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Exfoliative ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Exfoliative ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Exfoliative ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_138902 Label: mitochondrially encoded 12S RNA - 'mitochondrially encoded 12S RNA' SubClassOf 'gene' - 'mitochondrially encoded 12S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded 12S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'mitochondrially encoded 12S RNA' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' + 'mitochondrially encoded 12S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded 12S RNA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded 12S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'mitochondrially encoded 12S RNA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded 12S RNA' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289583 Label: bolA family member 3 - 'bolA family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 2' - 'bolA family member 3' SubClassOf 'gene' + 'bolA family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 2' + 'bolA family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'bolA family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122572 Label: iduronidase, alpha-L- - 'iduronidase, alpha-L-' SubClassOf 'gene' - 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hurler syndrome' - 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scheie syndrome' - 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hurler-Scheie syndrome' + 'iduronidase, alpha-L-' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'iduronidase, alpha-L-' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hurler syndrome' + 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scheie syndrome' + 'iduronidase, alpha-L-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hurler-Scheie syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138900 Label: mitochondrially encoded tRNA lysine - 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' - 'mitochondrially encoded tRNA lysine' SubClassOf 'gene' - 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited cardiomyopathy and hearing loss' - 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' + 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited cardiomyopathy and hearing loss' + 'mitochondrially encoded tRNA lysine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA lysine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA lysine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122574 Label: interferon, gamma - 'interferon, gamma' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' - 'interferon, gamma' SubClassOf 'gene' + 'interferon, gamma' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'interferon, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'interferon, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120315 Label: tuberous sclerosis 2 - 'tuberous sclerosis 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tuberous sclerosis' - 'tuberous sclerosis 2' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' - 'tuberous sclerosis 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphangioleiomyomatosis' - 'tuberous sclerosis 2' SubClassOf 'gene' + 'tuberous sclerosis 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tuberous sclerosis' + 'tuberous sclerosis 2' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' + 'tuberous sclerosis 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tuberous sclerosis 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphangioleiomyomatosis' + 'tuberous sclerosis 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122576 Label: interferon gamma receptor 1 - 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' - 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' - 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' - 'interferon gamma receptor 1' SubClassOf 'gene' + 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' + 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' + 'interferon gamma receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon gamma receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' + 'interferon gamma receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23-q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289589 Label: cystatin A (stefin A) - 'cystatin A (stefin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Exfoliative ichthyosis' - 'cystatin A (stefin A)' SubClassOf 'gene' + 'cystatin A (stefin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'cystatin A (stefin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystatin A (stefin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Exfoliative ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_590 Label: Congenital myasthenic syndrome - 'Congenital myasthenic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital myasthenic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital myasthenic syndrome' SubClassOf 'disease' - 'Congenital myasthenic syndrome' SubClassOf 'part_of' some 'Myasthenic syndrome with eye involvement' - 'Congenital myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital myasthenic syndrome' SubClassOf 'part_of' some 'Genetic neuromuscular junction disease' - 'Congenital myasthenic syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital myasthenic syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neuromuscular junction disease' + 'Congenital myasthenic syndrome' SubClassOf 'disease' + 'Congenital myasthenic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital myasthenic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myasthenic syndrome with eye involvement' + 'Congenital myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Congenital myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital myasthenic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_592 Label: Macrophagic myofasciitis - 'Macrophagic myofasciitis' SubClassOf 'disease' - 'Macrophagic myofasciitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Macrophagic myofasciitis' SubClassOf 'part_of' some 'Acquired skeletal muscle disease' - 'Macrophagic myofasciitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Macrophagic myofasciitis' SubClassOf 'disease' + 'Macrophagic myofasciitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Macrophagic myofasciitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Macrophagic myofasciitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Macrophagic myofasciitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Macrophagic myofasciitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_591 Label: Furuncular myiasis - 'Furuncular myiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Furuncular myiasis' SubClassOf 'part_of' some 'Subcutaneous myiasis' - 'Furuncular myiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Furuncular myiasis' SubClassOf 'disease' - 'Furuncular myiasis' SubClassOf 'has_prevalence' some 'Unknown' + 'Furuncular myiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Furuncular myiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Furuncular myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous myiasis' + 'Furuncular myiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208650 Label: Cryopyrin-associated periodic syndrome - 'Cryopyrin-associated periodic syndrome' SubClassOf 'group of disorders' + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cryopyrin-associated periodic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cryopyrin-associated periodic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryopyrin-associated periodic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_593 Label: Myofibrillar myopathy - 'Myofibrillar myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Myofibrillar myopathy' SubClassOf 'group of disorders' - 'Myofibrillar myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myofibrillar myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myofibrillar myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Myofibrillar myopathy' SubClassOf 'group of disorders' + 'Myofibrillar myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Myofibrillar myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Myofibrillar myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_596 Label: X-linked centronuclear myopathy - 'X-linked centronuclear myopathy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked centronuclear myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of myotubularin' - 'X-linked centronuclear myopathy' SubClassOf 'part_of' some 'Ptosis' - 'X-linked centronuclear myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked centronuclear myopathy' SubClassOf 'part_of' some 'Centronuclear myopathy' - 'X-linked centronuclear myopathy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked centronuclear myopathy' SubClassOf 'disease' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of myotubularin' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Centronuclear myopathy' + 'X-linked centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'X-linked centronuclear myopathy' SubClassOf 'disease' + 'X-linked centronuclear myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_595 Label: Centronuclear myopathy - 'Centronuclear myopathy' SubClassOf 'group of disorders' + 'Centronuclear myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Centronuclear myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Centronuclear myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_598 Label: Multiminicore myopathy - 'Multiminicore myopathy' SubClassOf 'part_of' some 'Congenital myopathy with cores' - 'Multiminicore myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of selenoprotein N1' - 'Multiminicore myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiminicore myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiminicore myopathy' SubClassOf 'disease' - 'Multiminicore myopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multiminicore myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Multiminicore myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiminicore myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiminicore myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiminicore myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiminicore myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy with cores' + 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of selenoprotein N1' + 'Multiminicore myopathy' SubClassOf 'disease' + 'Multiminicore myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_101351 Label: Familial isolated congenital asplenia - 'Familial isolated congenital asplenia' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Familial isolated congenital asplenia' SubClassOf 'part_of' some 'Primary immunodeficiency due to a defect in adaptive immunity' - 'Familial isolated congenital asplenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated congenital asplenia' SubClassOf 'morphological anomaly' + 'Familial isolated congenital asplenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated congenital asplenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary immunodeficiency due to a defect in adaptive immunity' + 'Familial isolated congenital asplenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Familial isolated congenital asplenia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_597 Label: Central core disease - 'Central core disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Central core disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Central core disease' SubClassOf 'disease' - 'Central core disease' SubClassOf 'part_of' some 'Congenital myopathy with cores' - 'Central core disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Central core disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central core disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Central core disease' SubClassOf 'disease' + 'Central core disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy with cores' + 'Central core disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Central core disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_599 Label: Distal myopathy - 'Distal myopathy' SubClassOf 'group of disorders' + 'Distal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy' SubClassOf 'group of disorders' + 'Distal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_138906 Label: mitochondrially encoded tRNA glutamine - 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA glutamine' SubClassOf 'gene' + 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA glutamine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA glutamine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231605 Label: D-amino-acid oxidase - 'D-amino-acid oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'D-amino-acid oxidase' SubClassOf 'gene' + 'D-amino-acid oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'D-amino-acid oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'D-amino-acid oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289596 Label: Juvenile nasopharyngeal angiofibroma - 'Juvenile nasopharyngeal angiofibroma' SubClassOf 'part_of' some 'Rare head and neck tumor' - 'Juvenile nasopharyngeal angiofibroma' SubClassOf 'disease' + 'Juvenile nasopharyngeal angiofibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare head and neck tumor' + 'Juvenile nasopharyngeal angiofibroma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122562 Label: hydrolethalus syndrome 1 - 'hydrolethalus syndrome 1' SubClassOf 'gene' - 'hydrolethalus syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' + 'hydrolethalus syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'hydrolethalus syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydrolethalus syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' Class: http://www.orpha.net/ORDO/Orphanet_137867 Label: Madras motor neuron disease - 'Madras motor neuron disease' SubClassOf 'disease' - 'Madras motor neuron disease' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Madras motor neuron disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Madras motor neuron disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Madras motor neuron disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Madras motor neuron disease' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Madras motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Madras motor neuron disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Madras motor neuron disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Madras motor neuron disease' SubClassOf 'disease' + 'Madras motor neuron disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Madras motor neuron disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Madras motor neuron disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Madras motor neuron disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_122565 Label: inducible T-cell co-stimulator - 'inducible T-cell co-stimulator' SubClassOf 'gene' - 'inducible T-cell co-stimulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'inducible T-cell co-stimulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inducible T-cell co-stimulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33"^^http://www.w3.org/2001/XMLSchema#string + 'inducible T-cell co-stimulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_120301 Label: transient receptor potential cation channel, subfamily M, member 6 - 'transient receptor potential cation channel, subfamily M, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hypomagnesemia with secondary hypocalcemia' - 'transient receptor potential cation channel, subfamily M, member 6' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily M, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.13"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily M, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily M, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hypomagnesemia with secondary hypocalcemia' Class: http://www.orpha.net/ORDO/Orphanet_122569 Label: iduronate 2-sulfatase - 'iduronate 2-sulfatase' SubClassOf 'gene' - 'iduronate 2-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 2, attenuated form' - 'iduronate 2-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 2, severe form' + 'iduronate 2-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 2, attenuated form' + 'iduronate 2-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 2, severe form' + 'iduronate 2-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.3-q28"^^http://www.w3.org/2001/XMLSchema#string + 'iduronate 2-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_201295 Label: ORAI calcium release-activated calcium modulator 1 - 'ORAI calcium release-activated calcium modulator 1' SubClassOf 'gene' - 'ORAI calcium release-activated calcium modulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tubular aggregate myopathy' - 'ORAI calcium release-activated calcium modulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to ORAI1 deficiency' + 'ORAI calcium release-activated calcium modulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'ORAI calcium release-activated calcium modulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ORAI calcium release-activated calcium modulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to ORAI1 deficiency' + 'ORAI calcium release-activated calcium modulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Tubular aggregate myopathy' Class: http://www.orpha.net/ORDO/Orphanet_119697 Label: solute carrier family 5 (sodium/glucose cotransporter), member 2 - 'solute carrier family 5 (sodium/glucose cotransporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal glucosuria' - 'solute carrier family 5 (sodium/glucose cotransporter), member 2' SubClassOf 'gene' + 'solute carrier family 5 (sodium/glucose cotransporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 5 (sodium/glucose cotransporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 5 (sodium/glucose cotransporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal glucosuria' Class: http://www.orpha.net/ORDO/Orphanet_263768 Label: Partial duplication of chromosome X - 'Partial duplication of chromosome X' SubClassOf 'group of disorders' + 'Partial duplication of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119693 Label: solute carrier family 5 (sodium/glucose cotransporter), member 1 - 'solute carrier family 5 (sodium/glucose cotransporter), member 1' SubClassOf 'gene' - 'solute carrier family 5 (sodium/glucose cotransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glucose-galactose malabsorption' + 'solute carrier family 5 (sodium/glucose cotransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 5 (sodium/glucose cotransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 5 (sodium/glucose cotransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glucose-galactose malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_289560 Label: Neurodegeneration with brain iron accumulation due to C19orf12 mutation - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'disease' - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'disease' + 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_137834 Label: Frank-Ter Haar syndrome - 'Frank-Ter Haar syndrome' SubClassOf 'disease' - 'Frank-Ter Haar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Frank-Ter Haar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Frank-Ter Haar syndrome' SubClassOf 'part_of' some 'Frontootopalatodigital syndrome' + 'Frank-Ter Haar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontootopalatodigital syndrome' + 'Frank-Ter Haar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Frank-Ter Haar syndrome' SubClassOf 'disease' + 'Frank-Ter Haar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_137831 Label: X-linked intellectual disability - cerebellar hypoplasia - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'disease' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'disease' + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_263775 Label: Partial duplication of the short arm of chromosome X - 'Partial duplication of the short arm of chromosome X' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98396 Label: Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder - 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'group of disorders' + 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_276058 Label: Genetic neurodegenerative disease with dementia - 'Genetic neurodegenerative disease with dementia' SubClassOf 'group of disorders' + 'Genetic neurodegenerative disease with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122556 Label: hyaluronoglucosaminidase 1 - 'hyaluronoglucosaminidase 1' SubClassOf 'gene' - 'hyaluronoglucosaminidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaluronidase deficiency' + 'hyaluronoglucosaminidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'hyaluronoglucosaminidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hyaluronoglucosaminidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaluronidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_122552 Label: HtrA serine peptidase 2 - 'HtrA serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'HtrA serine peptidase 2' SubClassOf 'gene' + 'HtrA serine peptidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'HtrA serine peptidase 2' SubClassOf 'Candidate gene tested in' some 'Young adult-onset Parkinsonism' + 'HtrA serine peptidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289569 Label: chromosome 19 open reading frame 12 - 'chromosome 19 open reading frame 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' - 'chromosome 19 open reading frame 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 43' - 'chromosome 19 open reading frame 12' SubClassOf 'gene' + 'chromosome 19 open reading frame 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' + 'chromosome 19 open reading frame 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 43' + 'chromosome 19 open reading frame 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 19 open reading frame 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_201291 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corticosteroid-binding globulin deficiency' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corticosteroid-binding globulin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101335 Label: Indian tick typhus - 'Indian tick typhus' SubClassOf 'etiological subtype' - 'Indian tick typhus' SubClassOf 'part_of' some 'Boutonneuse fever' + 'Indian tick typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Boutonneuse fever' + 'Indian tick typhus' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_101336 Label: Kenya tick typhus - 'Kenya tick typhus' SubClassOf 'part_of' some 'Boutonneuse fever' - 'Kenya tick typhus' SubClassOf 'etiological subtype' + 'Kenya tick typhus' SubClassOf 'etiological subtype' + 'Kenya tick typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_201284 Label: CD3g molecule, gamma (CD3-TCR complex) - 'CD3g molecule, gamma (CD3-TCR complex)' SubClassOf 'gene' - 'CD3g molecule, gamma (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to CD3gamma deficiency' + 'CD3g molecule, gamma (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD3g molecule, gamma (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'CD3g molecule, gamma (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to CD3gamma deficiency' Class: http://www.orpha.net/ORDO/Orphanet_101334 Label: African tick typhus - 'African tick typhus' SubClassOf 'part_of' some 'Boutonneuse fever' - 'African tick typhus' SubClassOf 'etiological subtype' + 'African tick typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Boutonneuse fever' + 'African tick typhus' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_91416 Label: Isolated congenital alacrima - 'Isolated congenital alacrima' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated congenital alacrima' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated congenital alacrima' SubClassOf 'part_of' some 'Congenital alacrima' - 'Isolated congenital alacrima' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenital alacrima' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated congenital alacrima' SubClassOf 'disease' + 'Isolated congenital alacrima' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated congenital alacrima' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenital alacrima' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated congenital alacrima' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated congenital alacrima' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital alacrima' + 'Isolated congenital alacrima' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101337 Label: Marseilles fever - 'Marseilles fever' SubClassOf 'part_of' some 'Boutonneuse fever' - 'Marseilles fever' SubClassOf 'etiological subtype' + 'Marseilles fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Boutonneuse fever' + 'Marseilles fever' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_122538 Label: HSPB (heat shock 27kDa) associated protein 1 - 'HSPB (heat shock 27kDa) associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'HSPB (heat shock 27kDa) associated protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_101338 Label: Mediterranean spotted fever - 'Mediterranean spotted fever' SubClassOf 'etiological subtype' - 'Mediterranean spotted fever' SubClassOf 'part_of' some 'Boutonneuse fever' + 'Mediterranean spotted fever' SubClassOf 'etiological subtype' + 'Mediterranean spotted fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_91412 Label: Marcus-Gunn syndrome - 'Marcus-Gunn syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marcus-Gunn syndrome' SubClassOf 'disease' - 'Marcus-Gunn syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Marcus-Gunn syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marcus-Gunn syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Marcus-Gunn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Marcus-Gunn syndrome' SubClassOf 'disease' + 'Marcus-Gunn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marcus-Gunn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marcus-Gunn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_91413 Label: Congenital Horner syndrome - 'Congenital Horner syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Congenital Horner syndrome' SubClassOf 'disease' + 'Congenital Horner syndrome' SubClassOf 'disease' + 'Congenital Horner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_314373 Label: Chronic diarrhea due to guanylate cyclase 2C overactivity - 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'disease' - 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'disease' + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_137839 Label: Lemierre syndrome - 'Lemierre syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Lemierre syndrome' SubClassOf 'disease' - 'Lemierre syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Lemierre syndrome' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Lemierre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Lemierre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lemierre syndrome' SubClassOf 'disease' + 'Lemierre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Lemierre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_91414 Label: Pilomatrixoma - 'Pilomatrixoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Pilomatrixoma' SubClassOf 'malformation syndrome' + 'Pilomatrixoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Pilomatrixoma' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314376 Label: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'disease' - 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231632 Label: Ectopic aldosterone-producing tumor - 'Ectopic aldosterone-producing tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Ectopic aldosterone-producing tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ectopic aldosterone-producing tumor' SubClassOf 'disease' - 'Ectopic aldosterone-producing tumor' SubClassOf 'part_of' some 'Rare non surgically correctable form of primary aldosteronism' + 'Ectopic aldosterone-producing tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non surgically correctable form of primary aldosteronism' + 'Ectopic aldosterone-producing tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ectopic aldosterone-producing tumor' SubClassOf 'disease' + 'Ectopic aldosterone-producing tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_91415 Label: Familial capillary hemangioma - 'Familial capillary hemangioma' SubClassOf 'disease' - 'Familial capillary hemangioma' SubClassOf 'part_of' some 'Palpebral tumor with a vascular malformation' - 'Familial capillary hemangioma' SubClassOf 'part_of' some 'Vascular tumor' + 'Familial capillary hemangioma' SubClassOf 'disease' + 'Familial capillary hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Familial capillary hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor with a vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_263756 Label: Partial deletion of the long arm of chromosome X - 'Partial deletion of the long arm of chromosome X' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99429 Label: Complete androgen insensitivity syndrome - 'Complete androgen insensitivity syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Complete androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Complete androgen insensitivity syndrome' SubClassOf 'disease' - 'Complete androgen insensitivity syndrome' SubClassOf 'part_of' some 'Androgen insensitivity syndrome' - 'Complete androgen insensitivity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Complete androgen insensitivity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Complete androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Complete androgen insensitivity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Complete androgen insensitivity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Complete androgen insensitivity syndrome' SubClassOf 'disease' + 'Complete androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Androgen insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91411 Label: Congenital ptosis - 'Congenital ptosis' SubClassOf 'disease' - 'Congenital ptosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital ptosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital ptosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital ptosis' SubClassOf 'part_of' some 'Ptosis' - 'Congenital ptosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital ptosis' SubClassOf 'disease' + 'Congenital ptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital ptosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital ptosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital ptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital ptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_101330 Label: Porphyria cutanea tarda - 'Porphyria cutanea tarda' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Porphyria cutanea tarda' SubClassOf 'disease' - 'Porphyria cutanea tarda' SubClassOf 'part_of' some 'Chronic hepatic porphyria' - 'Porphyria cutanea tarda' SubClassOf 'part_of' some 'Genodermatosis with ocular features' - 'Porphyria cutanea tarda' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Porphyria cutanea tarda' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Porphyria cutanea tarda' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Porphyria cutanea tarda' SubClassOf 'disease' + 'Porphyria cutanea tarda' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria cutanea tarda' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria cutanea tarda' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic hepatic porphyria' + 'Porphyria cutanea tarda' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria cutanea tarda' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genodermatosis with ocular features' Class: http://www.orpha.net/ORDO/Orphanet_263765 Label: v-myb avian myeloblastosis viral oncogene homolog - 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' - 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf 'gene' + 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' + 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'v-myb avian myeloblastosis viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289573 Label: Fatal multiple mitochondrial dysfunction syndrome - 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' - 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'disease' + 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' + 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231625 Label: Adrenocortical carcinoma with pure aldosterone hypersecretion - 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'has_prevalence' some 'Unknown' - 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'part_of' some 'Rare surgically correctable form of primary aldosteronism' - 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'has_inheritance' some 'sporadic' - 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'disease' - 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare surgically correctable form of primary aldosteronism' + 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'disease' + 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_289576 Label: NFU1 iron-sulfur cluster scaffold - 'NFU1 iron-sulfur cluster scaffold' SubClassOf 'gene' - 'NFU1 iron-sulfur cluster scaffold' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 1' + 'NFU1 iron-sulfur cluster scaffold' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p15-p13"^^http://www.w3.org/2001/XMLSchema#string + 'NFU1 iron-sulfur cluster scaffold' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 1' + 'NFU1 iron-sulfur cluster scaffold' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_276066 Label: Bile acid CoA ligase deficiency and defective amidation - 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'has_prevalence' some 'Unknown' - 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'disease' + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122547 Label: heparan sulfate proteoglycan 2 - 'heparan sulfate proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyssegmental dysplasia, Silverman-Handmaker type' - 'heparan sulfate proteoglycan 2' SubClassOf 'gene' - 'heparan sulfate proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schwartz-Jampel syndrome' + 'heparan sulfate proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heparan sulfate proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyssegmental dysplasia, Silverman-Handmaker type' + 'heparan sulfate proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1-p35"^^http://www.w3.org/2001/XMLSchema#string + 'heparan sulfate proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Schwartz-Jampel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276061 Label: Genetic frontotemporal degeneration with dementia - 'Genetic frontotemporal degeneration with dementia' SubClassOf 'group of disorders' + 'Genetic frontotemporal degeneration with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122542 Label: heat shock 60kDa protein 1 (chaperonin) - 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf 'gene' - 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' - 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 13' + 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' + 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'heat shock 60kDa protein 1 (chaperonin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 13' Class: http://www.orpha.net/ORDO/Orphanet_247676 Label: Adult hypophosphatasia - 'Adult hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult hypophosphatasia' SubClassOf 'clinical subtype' - 'Adult hypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' - 'Adult hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult hypophosphatasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Adult hypophosphatasia' SubClassOf 'clinical subtype' + 'Adult hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Adult hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' + 'Adult hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_137893 Label: Male infertility due to large-headed multiflagellar polyploid spermatozoa - 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'part_of' some 'Male infertility with teratozoospermia due to single gene mutation' - 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'clinical subtype' + 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with teratozoospermia due to single gene mutation' + 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_122532 Label: heat shock 22kDa protein 8 - 'heat shock 22kDa protein 8' SubClassOf 'gene' - 'heat shock 22kDa protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' - 'heat shock 22kDa protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'heat shock 22kDa protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.23"^^http://www.w3.org/2001/XMLSchema#string + 'heat shock 22kDa protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heat shock 22kDa protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' + 'heat shock 22kDa protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' Class: http://www.orpha.net/ORDO/Orphanet_121800 Label: fibroblast growth factor 23 - 'fibroblast growth factor 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypophosphatemic rickets' - 'fibroblast growth factor 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial tumoral calcinosis' - 'fibroblast growth factor 23' SubClassOf 'gene' + 'fibroblast growth factor 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypophosphatemic rickets' + 'fibroblast growth factor 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial tumoral calcinosis' + 'fibroblast growth factor 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_285223 Label: ST3 beta-galactoside alpha-2,3-sialyltransferase 3 - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'gene' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263793 Label: Uniparental disomy of chromosome X - 'Uniparental disomy of chromosome X' SubClassOf 'group of disorders' + 'Uniparental disomy of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137898 Label: Leukoencephalopathy with brain stem and spinal cord involvement - high lactate - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'disease' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'part_of' some 'Leukodystrophy' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'disease' + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99408 Label: Pituitary adenoma - 'Pituitary adenoma' SubClassOf 'group of disorders' + 'Pituitary adenoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122517 Label: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 - 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 1' - 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7' SubClassOf 'gene' + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 1' + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247667 Label: Childhood-onset hypophosphatasia - 'Childhood-onset hypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' - 'Childhood-onset hypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Childhood-onset hypophosphatasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Childhood-onset hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Childhood-onset hypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Childhood-onset hypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Childhood-onset hypophosphatasia' SubClassOf 'clinical subtype' + 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' + 'Childhood-onset hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood-onset hypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Childhood-onset hypophosphatasia' SubClassOf 'clinical subtype' + 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Childhood-onset hypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_227401 Label: unc-119 homolog (C. elegans) - 'unc-119 homolog (C. elegans)' SubClassOf 'gene' - 'unc-119 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'unc-119 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic CD4 lymphocytopenia' + 'unc-119 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'unc-119 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'unc-119 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'unc-119 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic CD4 lymphocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_122520 Label: heat shock transcription factor 4 - 'heat shock transcription factor 4' SubClassOf 'gene' - 'heat shock transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'heat shock transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q21"^^http://www.w3.org/2001/XMLSchema#string + 'heat shock transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'heat shock transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122526 Label: heat shock 27kDa protein 1 - 'heat shock 27kDa protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' - 'heat shock 27kDa protein 1' SubClassOf 'gene' - 'heat shock 27kDa protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' + 'heat shock 27kDa protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'heat shock 27kDa protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' + 'heat shock 27kDa protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heat shock 27kDa protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_263783 Label: Partial duplication of the long arm of chromosome X - 'Partial duplication of the long arm of chromosome X' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99413 Label: Turner syndrome due to structural X chromosome anomalies - 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'etiological subtype' - 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'part_of' some 'Turner syndrome' + 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'etiological subtype' + 'Turner syndrome due to structural X chromosome anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213823 Label: Adenoid cystic carcinoma of the cervix uteri - 'Adenoid cystic carcinoma of the cervix uteri' SubClassOf 'disease' - 'Adenoid cystic carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' + 'Adenoid cystic carcinoma of the cervix uteri' SubClassOf 'disease' + 'Adenoid cystic carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_239862 Label: Spi-B transcription factor (Spi-1/PU.1 related) - 'Spi-B transcription factor (Spi-1/PU.1 related)' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' - 'Spi-B transcription factor (Spi-1/PU.1 related)' SubClassOf 'gene' + 'Spi-B transcription factor (Spi-1/PU.1 related)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3-q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'Spi-B transcription factor (Spi-1/PU.1 related)' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'Spi-B transcription factor (Spi-1/PU.1 related)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_247691 Label: Retinal vasculopathy and cerebral leukodystrophy - 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'group of disorders' + 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247698 Label: Multiple endocrine neoplasia type 2A - 'Multiple endocrine neoplasia type 2A' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple endocrine neoplasia type 2A' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Multiple endocrine neoplasia type 2A' SubClassOf 'part_of' some 'Multiple endocrine neoplasia type 2' - 'Multiple endocrine neoplasia type 2A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multiple endocrine neoplasia type 2A' SubClassOf 'clinical subtype' - 'Multiple endocrine neoplasia type 2A' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Multiple endocrine neoplasia type 2A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple endocrine neoplasia type 2' + 'Multiple endocrine neoplasia type 2A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple endocrine neoplasia type 2A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' + 'Multiple endocrine neoplasia type 2A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_36355 Label: P2Y12 defect - 'P2Y12 defect' SubClassOf 'disease' - 'P2Y12 defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'P2Y12 defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'P2Y12 defect' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a platelet receptor defect' - 'P2Y12 defect' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'P2Y12 defect' SubClassOf 'disease' + 'P2Y12 defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'P2Y12 defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'P2Y12 defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'P2Y12 defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_239865 Label: interleukin 12A - 'interleukin 12A' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' - 'interleukin 12A' SubClassOf 'gene' + 'interleukin 12A' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'interleukin 12A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.33"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 12A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_376603 Label: ribosomal protein L15 - 'ribosomal protein L15' SubClassOf 'gene' - 'ribosomal protein L15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein L15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_122513 Label: hydroxysteroid (17-beta) dehydrogenase 4 - 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' - 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf 'gene' - 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' + 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q2"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxysteroid (17-beta) dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122515 Label: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 - 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf 'gene' - 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122511 Label: hydroxysteroid (17-beta) dehydrogenase 3 - 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf 'gene' - 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' + 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' + 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137871 Label: Laminopathy type Decaudain-Vigouroux - 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'part_of' some 'Rare hyperlipidemia' - 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'disease' - 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'part_of' some 'Insulin-resistance syndrome' + 'Laminopathy type Decaudain-Vigouroux' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Laminopathy type Decaudain-Vigouroux' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laminopathy type Decaudain-Vigouroux' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperlipidemia' + 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_213817 Label: Papillary carcinoma of the cervix uteri - 'Papillary carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' - 'Papillary carcinoma of the cervix uteri' SubClassOf 'disease' + 'Papillary carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' + 'Papillary carcinoma of the cervix uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_213837 Label: Malignant germ cell tumor of the cervix uteri - 'Malignant germ cell tumor of the cervix uteri' SubClassOf 'disease' - 'Malignant germ cell tumor of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' + 'Malignant germ cell tumor of the cervix uteri' SubClassOf 'disease' + 'Malignant germ cell tumor of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_239872 Label: interferon regulatory factor 5 - 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' - 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' - 'interferon regulatory factor 5' SubClassOf 'gene' - 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'interferon regulatory factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32"^^http://www.w3.org/2001/XMLSchema#string + 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'interferon regulatory factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon regulatory factor 5' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' Class: http://www.orpha.net/ORDO/Orphanet_317635 Label: transmembrane protein 5 - 'transmembrane protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'transmembrane protein 5' SubClassOf 'gene' + 'transmembrane protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'transmembrane protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213833 Label: Glassy cell carcinoma of the cervix uteri - 'Glassy cell carcinoma of the cervix uteri' SubClassOf 'disease' - 'Glassy cell carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' + 'Glassy cell carcinoma of the cervix uteri' SubClassOf 'disease' + 'Glassy cell carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_247685 Label: Odontohypophosphatasia - 'Odontohypophosphatasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Odontohypophosphatasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Odontohypophosphatasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Odontohypophosphatasia' SubClassOf 'part_of' some 'Hypophosphatasia' - 'Odontohypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Odontohypophosphatasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Odontohypophosphatasia' SubClassOf 'clinical subtype' + 'Odontohypophosphatasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Odontohypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Odontohypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Odontohypophosphatasia' SubClassOf 'clinical subtype' + 'Odontohypophosphatasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odontohypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_239874 Label: transportin 3 - 'transportin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1F' - 'transportin 3' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' - 'transportin 3' SubClassOf 'gene' + 'transportin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1F' + 'transportin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'transportin 3' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'transportin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122504 Label: hydroxysteroid (17-beta) dehydrogenase 10 - 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, atypical type' - 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, infantile type' - 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, neonatal type' - 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'gene' + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, atypical type' + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, infantile type' + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.2"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'HSD10 disease, neonatal type' + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122502 Label: hydroxysteroid (11-beta) dehydrogenase 2 - 'hydroxysteroid (11-beta) dehydrogenase 2' SubClassOf 'gene' - 'hydroxysteroid (11-beta) dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apparent mineralocorticoid excess' + 'hydroxysteroid (11-beta) dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxysteroid (11-beta) dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxysteroid (11-beta) dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apparent mineralocorticoid excess' Class: http://www.orpha.net/ORDO/Orphanet_137888 Label: Auriculocondylar syndrome - 'Auriculocondylar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Auriculocondylar syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Auriculocondylar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Auriculocondylar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Auriculocondylar syndrome' SubClassOf 'malformation syndrome' - 'Auriculocondylar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Auriculocondylar syndrome' SubClassOf 'part_of' some 'Oculo-auriculo-vertebral spectrum' - 'Auriculocondylar syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Auriculocondylar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculo-auriculo-vertebral spectrum' + 'Auriculocondylar syndrome' SubClassOf 'malformation syndrome' + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Auriculocondylar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Auriculocondylar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Auriculocondylar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Auriculocondylar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_213828 Label: Adenoid basal carcinoma of the cervix uteri - 'Adenoid basal carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of the cervix uteri' - 'Adenoid basal carcinoma of the cervix uteri' SubClassOf 'disease' + 'Adenoid basal carcinoma of the cervix uteri' SubClassOf 'disease' + 'Adenoid basal carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_403669 Label: adenylate cyclase 6 - 'adenylate cyclase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' - 'adenylate cyclase 6' SubClassOf 'gene' + 'adenylate cyclase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate cyclase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' + 'adenylate cyclase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118460 Label: sterile alpha motif domain containing 9 - 'sterile alpha motif domain containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normocalcemic tumoral calcinosis' - 'sterile alpha motif domain containing 9' SubClassOf 'gene' + 'sterile alpha motif domain containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'sterile alpha motif domain containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normocalcemic tumoral calcinosis' + 'sterile alpha motif domain containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_264482 Label: hepatic and glial cell adhesion molecule - 'hepatic and glial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' - 'hepatic and glial cell adhesion molecule' SubClassOf 'gene' + 'hepatic and glial cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'hepatic and glial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'hepatic and glial cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289504 Label: Combined malonic and methylmalonic acidemia - 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Combined malonic and methylmalonic acidemia' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Combined malonic and methylmalonic acidemia' SubClassOf 'disease' + 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Combined malonic and methylmalonic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Combined malonic and methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined malonic and methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Combined malonic and methylmalonic acidemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_403662 Label: contactin associated protein 1 - 'contactin associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' - 'contactin associated protein 1' SubClassOf 'gene' + 'contactin associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'contactin associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' + 'contactin associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391684 Label: calreticulin - 'calreticulin' SubClassOf 'gene' - 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' - 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' + 'calreticulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' + 'calreticulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391677 Label: Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'malformation syndrome' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'malformation syndrome' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121839 Label: folliculin - 'folliculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial spontaneous pneumothorax' - 'folliculin' SubClassOf 'gene' - 'folliculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Birt-Hogg-Dub� syndrome' + 'folliculin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'folliculin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'folliculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial spontaneous pneumothorax' + 'folliculin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Birt-Hogg-Dub� syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121835 Label: fukutin related protein - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2I' - 'fukutin related protein' SubClassOf 'gene' - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' + 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2I' + 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'fukutin related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'fukutin related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'fukutin related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fukutin related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_239888 Label: nuclear factor I/X (CCAAT-binding transcription factor) - 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf 'gene' - 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sotos syndrome' - 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall-Smith syndrome' + 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sotos syndrome' + 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall-Smith syndrome' + 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear factor I/X (CCAAT-binding transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118465 Label: secretion associated, Ras related GTPase 1B - 'secretion associated, Ras related GTPase 1B' SubClassOf 'gene' - 'secretion associated, Ras related GTPase 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chylomicron retention disease' + 'secretion associated, Ras related GTPase 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'secretion associated, Ras related GTPase 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'secretion associated, Ras related GTPase 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chylomicron retention disease' Class: http://www.orpha.net/ORDO/Orphanet_226044 Label: synaptophysin - 'synaptophysin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'synaptophysin' SubClassOf 'gene' + 'synaptophysin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synaptophysin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'synaptophysin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118468 Label: sarcosine dehydrogenase - 'sarcosine dehydrogenase' SubClassOf 'gene' - 'sarcosine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sarcosinemia' + 'sarcosine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'sarcosine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sarcosinemia' + 'sarcosine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213802 Label: Rhabdomyosarcoma of the cervix uteri - 'Rhabdomyosarcoma of the cervix uteri' SubClassOf 'part_of' some 'Sarcoma of the cervix uteri' - 'Rhabdomyosarcoma of the cervix uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the cervix uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_226047 Label: chloride channel, voltage-sensitive 2 - 'chloride channel, voltage-sensitive 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' - 'chloride channel, voltage-sensitive 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' - 'chloride channel, voltage-sensitive 2' SubClassOf 'gene' + 'chloride channel, voltage-sensitive 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive 2' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' + 'chloride channel, voltage-sensitive 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' + 'chloride channel, voltage-sensitive 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_239881 Label: membrane metallo-endopeptidase-like 1 - 'membrane metallo-endopeptidase-like 1' SubClassOf 'gene' - 'membrane metallo-endopeptidase-like 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'membrane metallo-endopeptidase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'membrane metallo-endopeptidase-like 1' SubClassOf 'Major susceptibility factor in' some 'Primary biliary cirrhosis' + 'membrane metallo-endopeptidase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_213807 Label: Leiomyosarcoma of the cervix uteri - 'Leiomyosarcoma of the cervix uteri' SubClassOf 'part_of' some 'Sarcoma of the cervix uteri' - 'Leiomyosarcoma of the cervix uteri' SubClassOf 'disease' + 'Leiomyosarcoma of the cervix uteri' SubClassOf 'disease' + 'Leiomyosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_239891 Label: paraoxonase 1 - 'paraoxonase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'paraoxonase 1' SubClassOf 'gene' + 'paraoxonase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'paraoxonase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paraoxonase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261771 Label: Partial deletion of chromosome 2 - 'Partial deletion of chromosome 2' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262211 Label: Partial trisomy/tetrasomy of chromosome 5 - 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118472 Label: spermidine/spermine N1-acetyltransferase 1 - 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'gene' - 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis follicularis spinulosa decalvans' Class: http://www.orpha.net/ORDO/Orphanet_121830 Label: factor interacting with PAPOLA and CPSF1 - 'factor interacting with PAPOLA and CPSF1' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' - 'factor interacting with PAPOLA and CPSF1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'factor interacting with PAPOLA and CPSF1' SubClassOf 'gene' + 'factor interacting with PAPOLA and CPSF1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'factor interacting with PAPOLA and CPSF1' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' + 'factor interacting with PAPOLA and CPSF1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'factor interacting with PAPOLA and CPSF1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_403672 Label: collagen, type XII, alpha 1 - 'collagen, type XII, alpha 1' SubClassOf 'gene' - 'collagen, type XII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' - 'collagen, type XII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type XII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital muscular dystrophy, Ullrich type' + 'collagen, type XII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Bethlem myopathy' Class: http://www.orpha.net/ORDO/Orphanet_121833 Label: FK506 binding protein 6, 36kDa - 'FK506 binding protein 6, 36kDa' SubClassOf 'gene' - 'FK506 binding protein 6, 36kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289513 Label: 12q15q21.1 microdeletion syndrome - '12q15q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '12q15q21.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 12' - '12q15q21.1 microdeletion syndrome' SubClassOf 'disease' + '12q15q21.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 12' + '12q15q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '12q15q21.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '12q15q21.1 microdeletion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289511 Label: acyl-CoA synthetase family member 3 - 'acyl-CoA synthetase family member 3' SubClassOf 'gene' - 'acyl-CoA synthetase family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined malonic and methylmalonic acidemia' + 'acyl-CoA synthetase family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA synthetase family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA synthetase family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined malonic and methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_391665 Label: Homozygous familial hypercholesterolemia - 'Homozygous familial hypercholesterolemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Homozygous familial hypercholesterolemia' SubClassOf 'disease' - 'Homozygous familial hypercholesterolemia' SubClassOf 'part_of' some 'Rare hyperlipidemia' + 'Homozygous familial hypercholesterolemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperlipidemia' + 'Homozygous familial hypercholesterolemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Homozygous familial hypercholesterolemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_36367 Label: Distal monosomy 1q - 'Distal monosomy 1q' SubClassOf 'malformation syndrome' - 'Distal monosomy 1q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 1' + 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 1' + 'Distal monosomy 1q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121823 Label: fumarate hydratase - 'fumarate hydratase' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' - 'fumarate hydratase' SubClassOf 'gene' - 'fumarate hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fumaric aciduria' - 'fumarate hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary leiomyomatosis and renal cell cancer' + 'fumarate hydratase' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' + 'fumarate hydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fumarate hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary leiomyomatosis and renal cell cancer' + 'fumarate hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fumaric aciduria' + 'fumarate hydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121826 Label: fragile histidine triad - 'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'fragile histidine triad' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_239896 Label: paraoxonase 3 - 'paraoxonase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'paraoxonase 3' SubClassOf 'gene' + 'paraoxonase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'paraoxonase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'paraoxonase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118476 Label: Shwachman-Bodian-Diamond syndrome - 'Shwachman-Bodian-Diamond syndrome' SubClassOf 'gene' - 'Shwachman-Bodian-Diamond syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shwachman-Diamond syndrome' - 'Shwachman-Bodian-Diamond syndrome' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'Shwachman-Bodian-Diamond syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'Shwachman-Bodian-Diamond syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'Shwachman-Bodian-Diamond syndrome' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shwachman-Diamond syndrome' + 'Shwachman-Bodian-Diamond syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Shwachman-Bodian-Diamond syndrome' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_261766 Label: Partial deletion of chromosome 1 - 'Partial deletion of chromosome 1' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262206 Label: Partial duplication of chromosome 4 - 'Partial duplication of chromosome 4' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_239898 Label: PDZ domain containing 7 - 'PDZ domain containing 7' SubClassOf 'Modifying germline mutation in' some 'Usher syndrome type 2' - 'PDZ domain containing 7' SubClassOf 'gene' + 'PDZ domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PDZ domain containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'PDZ domain containing 7' SubClassOf 'Modifying germline mutation in' some 'Usher syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_327331 Label: chloride intracellular channel 2 - 'chloride intracellular channel 2' SubClassOf 'gene' - 'chloride intracellular channel 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - cardiomegaly - congestive heart failure' + 'chloride intracellular channel 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride intracellular channel 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'chloride intracellular channel 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - cardiomegaly - congestive heart failure' Class: http://www.orpha.net/ORDO/Orphanet_327338 Label: ALG13, UDP-N-acetylglucosaminyltransferase subunit - 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG13-CDG' - 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'gene' + 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG13-CDG' + 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_213812 Label: Malignant peripheral neuroectodermal tumor of the cervix uteri - 'Malignant peripheral neuroectodermal tumor of the cervix uteri' SubClassOf 'part_of' some 'Sarcoma of the cervix uteri' - 'Malignant peripheral neuroectodermal tumor of the cervix uteri' SubClassOf 'disease' + 'Malignant peripheral neuroectodermal tumor of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the cervix uteri' + 'Malignant peripheral neuroectodermal tumor of the cervix uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_239894 Label: paraoxonase 2 - 'paraoxonase 2' SubClassOf 'gene' - 'paraoxonase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'paraoxonase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'paraoxonase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paraoxonase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_261786 Label: Partial deletion of chromosome 5 - 'Partial deletion of chromosome 5' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98313 Label: Male infertility due to gonadal dysgenesis - 'Male infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' + 'Male infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261781 Label: Partial deletion of chromosome 4 - 'Partial deletion of chromosome 4' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121821 Label: fibrinogen gamma chain - 'fibrinogen gamma chain' SubClassOf 'gene' - 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' - 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' - 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' - 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' + 'fibrinogen gamma chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibrinogen gamma chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28"^^http://www.w3.org/2001/XMLSchema#string + 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial afibrinogenemia' + 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypofibrinogenemia' + 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypodysfibrinogenemia' + 'fibrinogen gamma chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dysfibrinogenemia' Class: http://www.orpha.net/ORDO/Orphanet_121815 Label: fibroblast growth factor receptor 3 - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muenke syndrome' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe achondroplasia - developmental delay - acanthosis nigricans' - 'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome' - 'fibroblast growth factor receptor 3' SubClassOf 'gene' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated brachycephaly' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thanatophoric dysplasia type 1' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Camptodactyly - tall stature - scoliosis - hearing loss' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thanatophoric dysplasia type 2' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis gyrata - acanthosis nigricans - craniosynostosis' - 'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Isolated cloverleaf skull syndrome' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' - 'fibroblast growth factor receptor 3' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crouzon syndrome - acanthosis nigricans' - 'fibroblast growth factor receptor 3' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated plagiocephaly' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypochondroplasia' - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondroplasia' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muenke syndrome' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe achondroplasia - developmental delay - acanthosis nigricans' + 'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome' + 'fibroblast growth factor receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hypochondroplasia' + 'fibroblast growth factor receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated brachycephaly' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thanatophoric dysplasia type 1' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thanatophoric dysplasia type 2' + 'fibroblast growth factor receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Camptodactyly - tall stature - scoliosis - hearing loss' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' + 'fibroblast growth factor receptor 3' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crouzon syndrome - acanthosis nigricans' + 'fibroblast growth factor receptor 3' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated plagiocephaly' + 'fibroblast growth factor receptor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Achondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_118449 Label: S-antigen; retina and pineal gland (arrestin) - 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' - 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' - 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'gene' - 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_118445 Label: sacsin molecular chaperone - 'sacsin molecular chaperone' SubClassOf 'gene' - 'sacsin molecular chaperone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' + 'sacsin molecular chaperone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sacsin molecular chaperone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q11"^^http://www.w3.org/2001/XMLSchema#string + 'sacsin molecular chaperone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' Class: http://www.orpha.net/ORDO/Orphanet_98307 Label: Acquired lipodystrophy - 'Acquired lipodystrophy' SubClassOf 'group of disorders' + 'Acquired lipodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_327364 Label: histidine triad nucleotide binding protein 1 - 'histidine triad nucleotide binding protein 1' SubClassOf 'gene' - 'histidine triad nucleotide binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive axonal neuropathy with neuromyotonia' + 'histidine triad nucleotide binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive axonal neuropathy with neuromyotonia' + 'histidine triad nucleotide binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'histidine triad nucleotide binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_68402 Label: Rare parkinsonian disorder - 'Rare parkinsonian disorder' SubClassOf 'group of disorders' + 'Rare parkinsonian disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98305 Label: Genetic lipodystrophy - 'Genetic lipodystrophy' SubClassOf 'group of disorders' + 'Genetic lipodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261776 Label: Partial deletion of chromosome 3 - 'Partial deletion of chromosome 3' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98306 Label: Familial partial lipodystrophy - 'Familial partial lipodystrophy' SubClassOf 'group of disorders' + 'Familial partial lipodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_36397 Label: Adiposis dolorosa - 'Adiposis dolorosa' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Adiposis dolorosa' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adiposis dolorosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adiposis dolorosa' SubClassOf 'disease' - 'Adiposis dolorosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Adiposis dolorosa' SubClassOf 'has_prevalence' some 'Unknown' + 'Adiposis dolorosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adiposis dolorosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adiposis dolorosa' SubClassOf 'disease' + 'Adiposis dolorosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Adiposis dolorosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118443 Label: ryanodine receptor 2 (cardiac) - 'ryanodine receptor 2 (cardiac)' SubClassOf 'gene' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'ryanodine receptor 2 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string + 'ryanodine receptor 2 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' Class: http://www.orpha.net/ORDO/Orphanet_118451 Label: spalt-like transcription factor 1 - 'spalt-like transcription factor 1' SubClassOf 'gene' - 'spalt-like transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Townes-Brocks syndrome' + 'spalt-like transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Townes-Brocks syndrome' + 'spalt-like transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spalt-like transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261796 Label: Partial deletion of chromosome 7 - 'Partial deletion of chromosome 7' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261791 Label: Partial deletion of chromosome 6 - 'Partial deletion of chromosome 6' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98300 Label: Idiopathic interstitial pneumonia - 'Idiopathic interstitial pneumonia' SubClassOf 'group of disorders' + 'Idiopathic interstitial pneumonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_332912 Label: DNA replication helicase/nuclease 2 - 'DNA replication helicase/nuclease 2' SubClassOf 'gene' - 'DNA replication helicase/nuclease 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA deletion syndrome with progressive myopathy' + 'DNA replication helicase/nuclease 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA deletion syndrome with progressive myopathy' + 'DNA replication helicase/nuclease 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DNA replication helicase/nuclease 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.3-q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121802 Label: fibroblast growth factor receptor 1 - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hartsfield-Bixler-Demyer syndrome' - 'fibroblast growth factor receptor 1' SubClassOf 'gene' - 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with FGFR1 rearrangement' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated trigonocephaly' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' - 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteoglophonic dwarfism' - 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pfeiffer syndrome type 1' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Osteoglophonic dwarfism' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with FGFR1 rearrangement' + 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated trigonocephaly' + 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' + 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hartsfield-Bixler-Demyer syndrome' + 'fibroblast growth factor receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'fibroblast growth factor receptor 1' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'fibroblast growth factor receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pfeiffer syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_226018 Label: epithelial cell adhesion molecule - 'epithelial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'epithelial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intestinal epithelial dysplasia' - 'epithelial cell adhesion molecule' SubClassOf 'gene' + 'epithelial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'epithelial cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intestinal epithelial dysplasia' + 'epithelial cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'epithelial cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_36382 Label: Familial cervical artery dissections - 'Familial cervical artery dissections' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial cervical artery dissections' SubClassOf 'disease' - 'Familial cervical artery dissections' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Familial cervical artery dissections' SubClassOf 'disease' + 'Familial cervical artery dissections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Familial cervical artery dissections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_68415 Label: Rare parathyroid disease and phosphocalcic metabolism anomaly - 'Rare parathyroid disease and phosphocalcic metabolism anomaly' SubClassOf 'group of disorders' + 'Rare parathyroid disease and phosphocalcic metabolism anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_36383 Label: Familial vascular leukoencephalopathy - 'Familial vascular leukoencephalopathy' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial vascular leukoencephalopathy' SubClassOf 'disease' - 'Familial vascular leukoencephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial vascular leukoencephalopathy' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Familial vascular leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Familial vascular leukoencephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial vascular leukoencephalopathy' SubClassOf 'disease' + 'Familial vascular leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_68416 Label: Rare infectious disease - 'Rare infectious disease' SubClassOf 'group of disorders' + 'Rare infectious disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_226016 Label: phosphodiesterase 8B - 'phosphodiesterase 8B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant striatal neurodegeneration' - 'phosphodiesterase 8B' SubClassOf 'gene' - 'phosphodiesterase 8B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 8B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 8B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant striatal neurodegeneration' + 'phosphodiesterase 8B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 8B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118456 Label: spalt-like transcription factor 4 - 'spalt-like transcription factor 4' SubClassOf 'Role in the phenotype of' some 'Okihiro syndrome due to 20q13 microdeletion' - 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Okihiro syndrome due to a point mutation' - 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'IVIC syndrome' - 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acro-renal-ocular syndrome' - 'spalt-like transcription factor 4' SubClassOf 'gene' + 'spalt-like transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spalt-like transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'spalt-like transcription factor 4' SubClassOf 'Role in the phenotype of' some 'Okihiro syndrome due to 20q13 microdeletion' + 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Okihiro syndrome due to a point mutation' + 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'IVIC syndrome' + 'spalt-like transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acro-renal-ocular syndrome' Class: http://www.orpha.net/ORDO/Orphanet_36386 Label: Hereditary sensory and autonomic neuropathy type 1 - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_68411 Label: Rare bone tumor - 'Rare bone tumor' SubClassOf 'group of disorders' + 'Rare bone tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_36387 Label: Generalized epilepsy with febrile seizures-plus - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'disease' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'disease' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_36388 Label: Paraneoplastic neurologic syndrome - 'Paraneoplastic neurologic syndrome' SubClassOf 'group of disorders' + 'Paraneoplastic neurologic syndrome' SubClassOf 'group of disorders' + 'Paraneoplastic neurologic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paraneoplastic neurologic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_226013 Label: tubulin, beta 3 class III - 'tubulin, beta 3 class III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' - 'tubulin, beta 3 class III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' - 'tubulin, beta 3 class III' SubClassOf 'gene' + 'tubulin, beta 3 class III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, beta 3 class III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' + 'tubulin, beta 3 class III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' + 'tubulin, beta 3 class III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289548 Label: Inherited isolated adrenal insufficiency due to CYP11A1 deficiency - 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'disease' - 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'disease' + 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_399175 Label: Traumatic avascular necrosis - 'Traumatic avascular necrosis' SubClassOf 'disease' - 'Traumatic avascular necrosis' SubClassOf 'part_of' some 'Secondary avascular necrosis' + 'Traumatic avascular necrosis' SubClassOf 'disease' + 'Traumatic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_98372 Label: Hemolytic anemia due to a disorder of glycolytic enzymes - 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'group of disorders' + 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294998 Label: Brachydactyly of toes - 'Brachydactyly of toes' SubClassOf 'part_of' some 'Brachydactyly' - 'Brachydactyly of toes' SubClassOf 'morphological anomaly' + 'Brachydactyly of toes' SubClassOf 'morphological anomaly' + 'Brachydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_121883 Label: forkhead box C1 - 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' - 'forkhead box C1' SubClassOf 'gene' - 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' - 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' + 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' + 'forkhead box C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' + 'forkhead box C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289543 Label: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) - 'BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)' SubClassOf 'gene' - 'BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)' SubClassOf 'Major susceptibility factor in' some 'BAP1-related tumor predisposition syndrome' + 'BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31-p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)' SubClassOf 'Major susceptibility factor in' some 'BAP1-related tumor predisposition syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98370 Label: Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies - 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'group of disorders' + 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294996 Label: Brachydactyly of fingers - 'Brachydactyly of fingers' SubClassOf 'part_of' some 'Brachydactyly' - 'Brachydactyly of fingers' SubClassOf 'morphological anomaly' + 'Brachydactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly' + 'Brachydactyly of fingers' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_96112 Label: Non-distal trisomy 9q - 'Non-distal trisomy 9q' SubClassOf 'malformation syndrome' - 'Non-distal trisomy 9q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 9' + 'Non-distal trisomy 9q' SubClassOf 'malformation syndrome' + 'Non-distal trisomy 9q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_137814 Label: Macular amyloidosis - 'Macular amyloidosis' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Macular amyloidosis' SubClassOf 'disease' + 'Macular amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Macular amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98374 Label: Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder - 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'group of disorders' + 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68419 Label: Vascular anomaly or angioma - 'Vascular anomaly or angioma' SubClassOf 'group of disorders' + 'Vascular anomaly or angioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98375 Label: Autoimmune hemolytic anemia - 'Autoimmune hemolytic anemia' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune hemolytic anemia' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_137810 Label: Nodular cutaneous amyloidosis - 'Nodular cutaneous amyloidosis' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Nodular cutaneous amyloidosis' SubClassOf 'disease' + 'Nodular cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Nodular cutaneous amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_96109 Label: Distal trisomy 22q - 'Distal trisomy 22q' SubClassOf 'malformation syndrome' - 'Distal trisomy 22q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 22' + 'Distal trisomy 22q' SubClassOf 'malformation syndrome' + 'Distal trisomy 22q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_327388 Label: charged multivesicular body protein 1A - 'charged multivesicular body protein 1A' SubClassOf 'gene' - 'charged multivesicular body protein 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 8' + 'charged multivesicular body protein 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'charged multivesicular body protein 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'charged multivesicular body protein 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pontocerebellar hypoplasia type 8' Class: http://www.orpha.net/ORDO/Orphanet_96106 Label: Distal trisomy 16q - 'Distal trisomy 16q' SubClassOf 'malformation syndrome' - 'Distal trisomy 16q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 16' + 'Distal trisomy 16q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 16' + 'Distal trisomy 16q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118423 Label: runt-related transcription factor 1 - 'runt-related transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'runt-related transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'runt-related transcription factor 1' SubClassOf 'Modifying somatic mutation in' some 'Chronic myeloid leukemia' - 'runt-related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' - 'runt-related transcription factor 1' SubClassOf 'gene' - 'runt-related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' + 'runt-related transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'runt-related transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'runt-related transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'runt-related transcription factor 1' SubClassOf 'Modifying somatic mutation in' some 'Chronic myeloid leukemia' + 'runt-related transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'runt-related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' + 'runt-related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' Class: http://www.orpha.net/ORDO/Orphanet_96105 Label: Distal trisomy 13q - 'Distal trisomy 13q' SubClassOf 'malformation syndrome' - 'Distal trisomy 13q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 13' + 'Distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 13' + 'Distal trisomy 13q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137807 Label: Primary cutaneous amyloidosis - 'Primary cutaneous amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary cutaneous amyloidosis' SubClassOf 'group of disorders' - 'Primary cutaneous amyloidosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary cutaneous amyloidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary cutaneous amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Primary cutaneous amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary cutaneous amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary cutaneous amyloidosis' SubClassOf 'group of disorders' + 'Primary cutaneous amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary cutaneous amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_96107 Label: Distal trisomy 20q - 'Distal trisomy 20q' SubClassOf 'malformation syndrome' - 'Distal trisomy 20q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 20' + 'Distal trisomy 20q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 20' + 'Distal trisomy 20q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263708 Label: Complex chromosomal rearrangement - 'Complex chromosomal rearrangement' SubClassOf 'group of disorders' + 'Complex chromosomal rearrangement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201277 Label: serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alpha2 antiplasmin deficiency' - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alpha2 antiplasmin deficiency' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118429 Label: runt-related transcription factor 2 - 'runt-related transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cleidocranial dysplasia' - 'runt-related transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' - 'runt-related transcription factor 2' SubClassOf 'gene' + 'runt-related transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'runt-related transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cleidocranial dysplasia' + 'runt-related transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'runt-related transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' Class: http://www.orpha.net/ORDO/Orphanet_121878 Label: fragile X mental retardation 1 - 'fragile X mental retardation 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fragile X syndrome' - 'fragile X mental retardation 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fragile X-associated tremor/ataxia syndrome' - 'fragile X mental retardation 1' SubClassOf 'Role in the phenotype of' some 'Xq27.3q28 duplication syndrome' - 'fragile X mental retardation 1' SubClassOf 'gene' + 'fragile X mental retardation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fragile X mental retardation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Fragile X-associated tremor/ataxia syndrome' + 'fragile X mental retardation 1' SubClassOf 'Role in the phenotype of' some 'Xq27.3q28 duplication syndrome' + 'fragile X mental retardation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fragile X syndrome' + 'fragile X mental retardation 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399185 Label: Rare hereditary disease with avascular necrosis - 'Rare hereditary disease with avascular necrosis' SubClassOf 'group of disorders' + 'Rare hereditary disease with avascular necrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98360 Label: Constitutional anemia due to iron metabolism disorder - 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'group of disorders' + 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294986 Label: Apodia - 'Apodia' SubClassOf 'part_of' some 'Terminal limb defects' - 'Apodia' SubClassOf 'morphological anomaly' + 'Apodia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Terminal limb defects' + 'Apodia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121872 Label: fms-related tyrosine kinase 4 - 'fms-related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' - 'fms-related tyrosine kinase 4' SubClassOf 'gene' + 'fms-related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' + 'fms-related tyrosine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'fms-related tyrosine kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98362 Label: Constitutional sideroblastic anemia - 'Constitutional sideroblastic anemia' SubClassOf 'group of disorders' + 'Constitutional sideroblastic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294988 Label: Congenital absence/hypoplasia of thumb - 'Congenital absence/hypoplasia of thumb' SubClassOf 'part_of' some 'Adactyly of hand' - 'Congenital absence/hypoplasia of thumb' SubClassOf 'morphological anomaly' + 'Congenital absence/hypoplasia of thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adactyly of hand' + 'Congenital absence/hypoplasia of thumb' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_96103 Label: Distal trisomy 11q - 'Distal trisomy 11q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 11' - 'Distal trisomy 11q' SubClassOf 'malformation syndrome' + 'Distal trisomy 11q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 11' + 'Distal trisomy 11q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289553 Label: Dysmorphism - conductive hearing loss - heart defect - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'malformation syndrome' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'malformation syndrome' + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98363 Label: Rare hemolytic anemia - 'Rare hemolytic anemia' SubClassOf 'group of disorders' + 'Rare hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98364 Label: Rare constitutional hemolytic anemia due to a red cell membrane anomaly - 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf 'group of disorders' + 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98365 Label: Hereditary stomatocytosis - 'Hereditary stomatocytosis' SubClassOf 'group of disorders' + 'Hereditary stomatocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96101 Label: Distal trisomy 9q - 'Distal trisomy 9q' SubClassOf 'malformation syndrome' - 'Distal trisomy 9q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 9' + 'Distal trisomy 9q' SubClassOf 'malformation syndrome' + 'Distal trisomy 9q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_98366 Label: Constitutional hemolytic anemia due to acanthocytosis - 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'group of disorders' + 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96102 Label: Distal trisomy 10q - 'Distal trisomy 10q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal trisomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal trisomy 10q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 10' - 'Distal trisomy 10q' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Distal trisomy 10q' SubClassOf 'malformation syndrome' + 'Distal trisomy 10q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 10' + 'Distal trisomy 10q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal trisomy 10q' SubClassOf 'malformation syndrome' + 'Distal trisomy 10q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_280917 Label: Idiopathic posterior uveitis - 'Idiopathic posterior uveitis' SubClassOf 'disease' - 'Idiopathic posterior uveitis' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' + 'Idiopathic posterior uveitis' SubClassOf 'disease' + 'Idiopathic posterior uveitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_96100 Label: Distal trisomy 8q - 'Distal trisomy 8q' SubClassOf 'malformation syndrome' - 'Distal trisomy 8q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 8' + 'Distal trisomy 8q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 8' + 'Distal trisomy 8q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_53689 Label: Congenital chloride diarrhea - 'Congenital chloride diarrhea' SubClassOf 'part_of' some 'Congenital intestinal transport defect' - 'Congenital chloride diarrhea' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital chloride diarrhea' SubClassOf 'disease' + 'Congenital chloride diarrhea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital chloride diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal transport defect' + 'Congenital chloride diarrhea' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98369 Label: Rare constitutional hemolytic anemia due to an enzyme disorder - 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf 'group of disorders' + 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280914 Label: Idiopathic anterior uveitis - 'Idiopathic anterior uveitis' SubClassOf 'disease' - 'Idiopathic anterior uveitis' SubClassOf 'part_of' some 'Anterior uveitis' + 'Idiopathic anterior uveitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anterior uveitis' + 'Idiopathic anterior uveitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137820 Label: Rare endometriosis - 'Rare endometriosis' SubClassOf 'part_of' some 'Rare non-malformative gynecologic or obstetric disease' - 'Rare endometriosis' SubClassOf 'disease' + 'Rare endometriosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative gynecologic or obstetric disease' + 'Rare endometriosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_264431 Label: Partial duplication of the short arm of chromosome 1 - 'Partial duplication of the short arm of chromosome 1' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_53696 Label: Lethal arthrogryposis - anterior horn cell disease - 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'malformation syndrome' - 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_53697 Label: Gnathodiaphyseal dysplasia - 'Gnathodiaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Gnathodiaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Gnathodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gnathodiaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Gnathodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Gnathodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gnathodiaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Gnathodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_53698 Label: Hyaline body myopathy - 'Hyaline body myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'Hyaline body myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Hyaline body myopathy' SubClassOf 'disease' + 'Hyaline body myopathy' SubClassOf 'disease' + 'Hyaline body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Hyaline body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' Class: http://www.orpha.net/ORDO/Orphanet_53693 Label: GRACILE syndrome - 'GRACILE syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'GRACILE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GRACILE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GRACILE syndrome' SubClassOf 'disease' - 'GRACILE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'GRACILE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'GRACILE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GRACILE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GRACILE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GRACILE syndrome' SubClassOf 'disease' + 'GRACILE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GRACILE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'GRACILE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_118437 Label: ryanodine receptor 1 (skeletal) - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central core disease' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'gene' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'King-Denborough syndrome' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital multicore myopathy with external ophthalmoplegia' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderate multiminicore disease with hand involvement' - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign Samaritan congenital myopathy' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central core disease' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'King-Denborough syndrome' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'ryanodine receptor 1 (skeletal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital multicore myopathy with external ophthalmoplegia' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moderate multiminicore disease with hand involvement' + 'ryanodine receptor 1 (skeletal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign Samaritan congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_327379 Label: required for meiotic nuclear division 1 homolog (S. cerevisiae) - 'required for meiotic nuclear division 1 homolog (S. cerevisiae)' SubClassOf 'gene' - 'required for meiotic nuclear division 1 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 11' + 'required for meiotic nuclear division 1 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Combined oxidative phosphorylation defect type 11' + 'required for meiotic nuclear division 1 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'required for meiotic nuclear division 1 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137817 Label: Arachnoiditis - 'Arachnoiditis' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Arachnoiditis' SubClassOf 'disease' - 'Arachnoiditis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Arachnoiditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Arachnoiditis' SubClassOf 'has_inheritance' some 'sporadic' + 'Arachnoiditis' SubClassOf 'disease' + 'Arachnoiditis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arachnoiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Arachnoiditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_300605 Label: Juvenile amyotrophic lateral sclerosis - 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'disease' - 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'part_of' some 'Genetic motor neuron disease' + 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Juvenile amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'disease' + 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_294992 Label: Split hand - 'Split hand' SubClassOf 'morphological anomaly' - 'Split hand' SubClassOf 'part_of' some 'Split hand or/and split foot malformation' + 'Split hand' SubClassOf 'morphological anomaly' + 'Split hand' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand or/and split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_53690 Label: Congenital lactase deficiency - 'Congenital lactase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Congenital lactase deficiency' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Congenital lactase deficiency' SubClassOf 'disease' - 'Congenital lactase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital lactase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' + 'Congenital lactase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital lactase deficiency' SubClassOf 'disease' + 'Congenital lactase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_53691 Label: Congenital cornea plana - 'Congenital cornea plana' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cornea plana' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cornea plana' SubClassOf 'morphological anomaly' - 'Congenital cornea plana' SubClassOf 'part_of' some 'Rare hyperopia and astigmatism' - 'Congenital cornea plana' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital cornea plana' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cornea plana' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cornea plana' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cornea plana' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperopia and astigmatism' + 'Congenital cornea plana' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_294994 Label: Split foot - 'Split foot' SubClassOf 'part_of' some 'Split hand or/and split foot malformation' - 'Split foot' SubClassOf 'morphological anomaly' + 'Split foot' SubClassOf 'morphological anomaly' + 'Split foot' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand or/and split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_308114 Label: FANCD2/FANCI-associated nuclease 1 - 'FANCD2/FANCI-associated nuclease 1' SubClassOf 'gene' - 'FANCD2/FANCI-associated nuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Karyomegalic interstitial nephritis' + 'FANCD2/FANCI-associated nuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FANCD2/FANCI-associated nuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'FANCD2/FANCI-associated nuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Karyomegalic interstitial nephritis' Class: http://www.orpha.net/ORDO/Orphanet_121867 Label: filamin C, gamma - 'filamin C, gamma' SubClassOf 'gene' - 'filamin C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle filaminopathy' - 'filamin C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with posterior leg and anterior hand involvement' + 'filamin C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle filaminopathy' + 'filamin C, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32-q35"^^http://www.w3.org/2001/XMLSchema#string + 'filamin C, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with posterior leg and anterior hand involvement' + 'filamin C, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399180 Label: Secondary non-traumatic avascular necrosis - 'Secondary non-traumatic avascular necrosis' SubClassOf 'disease' - 'Secondary non-traumatic avascular necrosis' SubClassOf 'part_of' some 'Secondary avascular necrosis' + 'Secondary non-traumatic avascular necrosis' SubClassOf 'disease' + 'Secondary non-traumatic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_294990 Label: Congenital absence/hypoplasia of fingers excluding thumb - 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'morphological anomaly' - 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'part_of' some 'Adactyly of hand' + 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'morphological anomaly' + 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adactyly of hand' Class: http://www.orpha.net/ORDO/Orphanet_289522 Label: Microtriplication 11q24.1 - 'Microtriplication 11q24.1' SubClassOf 'malformation syndrome' - 'Microtriplication 11q24.1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microtriplication 11q24.1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microtriplication 11q24.1' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 11' + 'Microtriplication 11q24.1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 11' + 'Microtriplication 11q24.1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microtriplication 11q24.1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microtriplication 11q24.1' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121860 Label: filamin B, beta - 'filamin B, beta' SubClassOf 'gene' - 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atelosteogenesis type I' - 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylocarpotarsal synostosis' - 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atelosteogenesis type III' - 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Boomerang dysplasia' - 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Larsen syndrome' + 'filamin B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'filamin B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Atelosteogenesis type I' + 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atelosteogenesis type III' + 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Boomerang dysplasia' + 'filamin B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'filamin B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spondylocarpotarsal synostosis' + 'filamin B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Larsen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280921 Label: Idiopathic panuveitis - 'Idiopathic panuveitis' SubClassOf 'disease' - 'Idiopathic panuveitis' SubClassOf 'part_of' some 'Panuveitis' + 'Idiopathic panuveitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Panuveitis' + 'Idiopathic panuveitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122598 Label: immunoglobulin lambda-like polypeptide 1 - 'immunoglobulin lambda-like polypeptide 1' SubClassOf 'gene' - 'immunoglobulin lambda-like polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'immunoglobulin lambda-like polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin lambda-like polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin lambda-like polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_289527 Label: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'disease' - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'disease' + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_263731 Label: Partial monosomy of the short arm of chromosome X - 'Partial monosomy of the short arm of chromosome X' SubClassOf 'group of disorders' + 'Partial monosomy of the short arm of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98356 Label: Autosomal recessive isolated diffuse palmoplantar keratoderma - 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122593 Label: immunoglobulin mu binding protein 2 - 'immunoglobulin mu binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 1' - 'immunoglobulin mu binding protein 2' SubClassOf 'gene' + 'immunoglobulin mu binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin mu binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 1' + 'immunoglobulin mu binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_262201 Label: Partial duplication of chromosome 3 - 'Partial duplication of chromosome 3' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98357 Label: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280926 Label: Systemic diseases with anterior uveitis - 'Systemic diseases with anterior uveitis' SubClassOf 'group of disorders' + 'Systemic diseases with anterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122591 Label: immunoglobulin heavy constant mu - 'immunoglobulin heavy constant mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'immunoglobulin heavy constant mu' SubClassOf 'gene' + 'immunoglobulin heavy constant mu' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin heavy constant mu' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy constant mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_399158 Label: Osteonecrosis - 'Osteonecrosis' SubClassOf 'group of disorders' + 'Osteonecrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98352 Label: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98353 Label: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118403 Label: ribosomal protein S24 - 'ribosomal protein S24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' - 'ribosomal protein S24' SubClassOf 'gene' + 'ribosomal protein S24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_244547 Label: RFT1 homolog (S. cerevisiae) - 'RFT1 homolog (S. cerevisiae)' SubClassOf 'gene' - 'RFT1 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RFT1-CDG' + 'RFT1 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RFT1 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'RFT1 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RFT1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_263723 Label: Polysomy of X chromosome - 'Polysomy of X chromosome' SubClassOf 'group of disorders' + 'Polysomy of X chromosome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98349 Label: Autosomal dominant isolated diffuse palmoplantar keratoderma - 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118400 Label: ribosomal protein S19 - 'ribosomal protein S19' SubClassOf 'gene' - 'ribosomal protein S19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_263726 Label: Partial deletion of chromosome X - 'Partial deletion of chromosome X' SubClassOf 'group of disorders' + 'Partial deletion of chromosome X' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201252 Label: growth hormone secretagogue receptor - 'growth hormone secretagogue receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to GHSR deficiency' - 'growth hormone secretagogue receptor' SubClassOf 'gene' + 'growth hormone secretagogue receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone secretagogue receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to GHSR deficiency' + 'growth hormone secretagogue receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118405 Label: ribosomal protein S6 kinase, 90kDa, polypeptide 3 - 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf 'gene' - 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Lowry syndrome' - 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Lowry syndrome' + 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S6 kinase, 90kDa, polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289535 Label: NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2-q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) complex I, assembly factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_280930 Label: Systemic diseases with posterior uveitis - 'Systemic diseases with posterior uveitis' SubClassOf 'group of disorders' + 'Systemic diseases with posterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122589 Label: immunoglobulin heavy constant gamma 1 (G1m marker) - 'immunoglobulin heavy constant gamma 1 (G1m marker)' SubClassOf 'Part of a fusion gene in' some 'B-cell chronic lymphocytic leukemia' - 'immunoglobulin heavy constant gamma 1 (G1m marker)' SubClassOf 'gene' + 'immunoglobulin heavy constant gamma 1 (G1m marker)' SubClassOf 'Part of a fusion gene in' some 'B-cell chronic lymphocytic leukemia' + 'immunoglobulin heavy constant gamma 1 (G1m marker)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin heavy constant gamma 1 (G1m marker)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121850 Label: flightless I homolog (Drosophila) - 'flightless I homolog (Drosophila)' SubClassOf 'gene' - 'flightless I homolog (Drosophila)' SubClassOf 'Candidate gene tested in' some 'Smith-Magenis syndrome' + 'flightless I homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'flightless I homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'flightless I homolog (Drosophila)' SubClassOf 'Candidate gene tested in' some 'Smith-Magenis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_399164 Label: Avascular necrosis - 'Avascular necrosis' SubClassOf 'group of disorders' + 'Avascular necrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289539 Label: BAP1-related tumor predisposition syndrome - 'BAP1-related tumor predisposition syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'BAP1-related tumor predisposition syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'BAP1-related tumor predisposition syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' - 'BAP1-related tumor predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'BAP1-related tumor predisposition syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'BAP1-related tumor predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'BAP1-related tumor predisposition syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'BAP1-related tumor predisposition syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' + 'BAP1-related tumor predisposition syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_264450 Label: Trisomy 8p - 'Trisomy 8p' SubClassOf 'malformation syndrome' - 'Trisomy 8p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 8' + 'Trisomy 8p' SubClassOf 'malformation syndrome' + 'Trisomy 8p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_280933 Label: Systemic diseases with panuveitis - 'Systemic diseases with panuveitis' SubClassOf 'group of disorders' + 'Systemic diseases with panuveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121853 Label: filamin A, alpha - 'filamin A, alpha' SubClassOf 'gene' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otopalatodigital syndrome type 1' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontometaphyseal dysplasia' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital valvular dysplasia' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital short bowel syndrome' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic intestinal pseudoobstruction' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteodysplasty, Melnick-Needles type' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otopalatodigital syndrome type 2' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome with periventricular heterotopia' - 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Terminal osseous dysplasia - pigmentary defects' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otopalatodigital syndrome type 1' + 'filamin A, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital valvular dysplasia' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontometaphyseal dysplasia' + 'filamin A, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Osteodysplasty, Melnick-Needles type' + 'filamin A, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital short bowel syndrome' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuronal intestinal pseudoobstruction' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome with periventricular heterotopia' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otopalatodigital syndrome type 2' + 'filamin A, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Terminal osseous dysplasia - pigmentary defects' Class: http://www.orpha.net/ORDO/Orphanet_122587 Label: insulin-like growth factor 1 (somatomedin C) - 'insulin-like growth factor 1 (somatomedin C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor type 1 deficiency' - 'insulin-like growth factor 1 (somatomedin C)' SubClassOf 'gene' + 'insulin-like growth factor 1 (somatomedin C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor type 1 deficiency' + 'insulin-like growth factor 1 (somatomedin C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor 1 (somatomedin C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98345 Label: Rare idiopathic male infertility - 'Rare idiopathic male infertility' SubClassOf 'group of disorders' + 'Rare idiopathic male infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122584 Label: immunoglobulin (CD79A) binding protein 1 - 'immunoglobulin (CD79A) binding protein 1' SubClassOf 'gene' - 'immunoglobulin (CD79A) binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' + 'immunoglobulin (CD79A) binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin (CD79A) binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin (CD79A) binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' Class: http://www.orpha.net/ORDO/Orphanet_263720 Label: X chromosome number anomaly with male phenotype - 'X chromosome number anomaly with male phenotype' SubClassOf 'group of disorders' + 'X chromosome number anomaly with male phenotype' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98343 Label: Male infertility due to obstructive azoospermia - 'Male infertility due to obstructive azoospermia' SubClassOf 'group of disorders' + 'Male infertility due to obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_290420 Label: MYC associated factor X - 'MYC associated factor X' SubClassOf 'gene' - 'MYC associated factor X' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' + 'MYC associated factor X' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23"^^http://www.w3.org/2001/XMLSchema#string + 'MYC associated factor X' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MYC associated factor X' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_122580 Label: interferon gamma receptor 2 (interferon gamma transducer 1) - 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' - 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' - 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' - 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'gene' + 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' + 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' + 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' + 'interferon gamma receptor 2 (interferon gamma transducer 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399169 Label: Secondary avascular necrosis - 'Secondary avascular necrosis' SubClassOf 'group of disorders' + 'Secondary avascular necrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158266 Label: Huntington disease-like syndrome - 'Huntington disease-like syndrome' SubClassOf 'group of disorders' + 'Huntington disease-like syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118415 Label: R-spondin 1 - 'R-spondin 1' SubClassOf 'gene' - 'R-spondin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' + 'R-spondin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' + 'R-spondin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2"^^http://www.w3.org/2001/XMLSchema#string + 'R-spondin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263717 Label: X chromosome number anomaly with female phenotype - 'X chromosome number anomaly with female phenotype' SubClassOf 'group of disorders' + 'X chromosome number anomaly with female phenotype' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263714 Label: X chromosome number anomaly - 'X chromosome number anomaly' SubClassOf 'group of disorders' + 'X chromosome number anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118411 Label: retinoschisin 1 - 'retinoschisin 1' SubClassOf 'gene' - 'retinoschisin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked retinoschisis' + 'retinoschisin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinoschisin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked retinoschisis' + 'retinoschisin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121846 Label: Fli-1 proto-oncogene, ETS transcription factor - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'gene' - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paris-Trousseau thrombocytopenia' - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' - 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Peripheral primitive neuroectodermal tumor' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal Ewing sarcoma' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.1-q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paris-Trousseau thrombocytopenia' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Part of a fusion gene in' some 'Peripheral primitive neuroectodermal tumor' + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118419 Label: R-spondin 4 - 'R-spondin 4' SubClassOf 'gene' - 'R-spondin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital anonychia' + 'R-spondin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital anonychia' + 'R-spondin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'R-spondin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_68354 Label: Sleep disorder - 'Sleep disorder' SubClassOf 'group of disorders' + 'Sleep disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_301126 Label: ALG10, alpha-1,2-glucosyltransferase - 'ALG10, alpha-1,2-glucosyltransferase' SubClassOf 'Major susceptibility factor in' some 'Romano-Ward syndrome' - 'ALG10, alpha-1,2-glucosyltransferase' SubClassOf 'gene' + 'ALG10, alpha-1,2-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG10, alpha-1,2-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'ALG10, alpha-1,2-glucosyltransferase' SubClassOf 'Major susceptibility factor in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_259354 Label: SLX4 structure-specific endonuclease subunit - 'SLX4 structure-specific endonuclease subunit' SubClassOf 'gene' - 'SLX4 structure-specific endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'SLX4 structure-specific endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'SLX4 structure-specific endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SLX4 structure-specific endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_102369 Label: Rare intellectual disability with developmental anomaly - 'Rare intellectual disability with developmental anomaly' SubClassOf 'group of disorders' + 'Rare intellectual disability with developmental anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_259358 Label: acid phosphatase 5, tartrate resistant - 'acid phosphatase 5, tartrate resistant' SubClassOf 'gene' - 'acid phosphatase 5, tartrate resistant' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloenchondrodysplasia' + 'acid phosphatase 5, tartrate resistant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'acid phosphatase 5, tartrate resistant' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloenchondrodysplasia' + 'acid phosphatase 5, tartrate resistant' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261806 Label: Partial deletion of chromosome 9 - 'Partial deletion of chromosome 9' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370348 Label: Peripheral primitive neuroectodermal tumor - 'Peripheral primitive neuroectodermal tumor' SubClassOf 'part_of' some 'Bone sarcoma' - 'Peripheral primitive neuroectodermal tumor' SubClassOf 'disease' + 'Peripheral primitive neuroectodermal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Peripheral primitive neuroectodermal tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_311047 Label: adaptor-related protein complex 5, zeta 1 subunit - 'adaptor-related protein complex 5, zeta 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 48' - 'adaptor-related protein complex 5, zeta 1 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 5, zeta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 5, zeta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive spastic paraplegia type 48' + 'adaptor-related protein complex 5, zeta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261801 Label: Partial deletion of chromosome 8 - 'Partial deletion of chromosome 8' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352456 Label: Mitochondrial DNA maintenance syndrome - 'Mitochondrial DNA maintenance syndrome' SubClassOf 'group of disorders' + 'Mitochondrial DNA maintenance syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68356 Label: Leukodystrophy - 'Leukodystrophy' SubClassOf 'group of disorders' + 'Leukodystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96145 Label: Distal monosomy 4q - 'Distal monosomy 4q' SubClassOf 'malformation syndrome' - 'Distal monosomy 4q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 4' + 'Distal monosomy 4q' SubClassOf 'malformation syndrome' + 'Distal monosomy 4q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_96148 Label: Distal monosomy 10q - 'Distal monosomy 10q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 10q' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 10' - 'Distal monosomy 10q' SubClassOf 'malformation syndrome' - 'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Distal monosomy 10q' SubClassOf 'has_inheritance' some 'sporadic' + 'Distal monosomy 10q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal monosomy 10q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 10' + 'Distal monosomy 10q' SubClassOf 'malformation syndrome' + 'Distal monosomy 10q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_96147 Label: Kleefstra syndrome due to 9q34 microdeletion - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'part_of' some 'Kleefstra syndrome' - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'etiological subtype' - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kleefstra syndrome' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'etiological subtype' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_308031 Label: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293019 Label: DIS3 like 3'-5' exoribonuclease 2 - 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perlman syndrome' - 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf 'gene' - 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' + 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perlman syndrome' + 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DIS3 like 3'-5' exoribonuclease 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_293034 Label: CXADR-like membrane protein - 'CXADR-like membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital short bowel syndrome' - 'CXADR-like membrane protein' SubClassOf 'gene' + 'CXADR-like membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CXADR-like membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'CXADR-like membrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital short bowel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_68341 Label: Multiple congenital anomalies/dysmorphic syndrome - 'Multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' + 'Multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102379 Label: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent - 'Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent' SubClassOf 'part_of' some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' - 'Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent' SubClassOf 'disease' + 'Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent' SubClassOf 'disease' + 'Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_311039 Label: integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) - 'integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' - 'integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)' SubClassOf 'gene' + 'integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' + 'integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_391711 Label: Persistent combined dystonia - 'Persistent combined dystonia' SubClassOf 'group of disorders' + 'Persistent combined dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102373 Label: Primary glomerular disease - 'Primary glomerular disease' SubClassOf 'group of disorders' + 'Primary glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_357237 Label: Severe combined immunodeficiency due to CARD11 deficiency - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T+ B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_96149 Label: Distal monosomy 12q - 'Distal monosomy 12q' SubClassOf 'malformation syndrome' - 'Distal monosomy 12q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 12' + 'Distal monosomy 12q' SubClassOf 'malformation syndrome' + 'Distal monosomy 12q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_311032 Label: solute carrier family 30, member 10 - 'solute carrier family 30, member 10' SubClassOf 'gene' - 'solute carrier family 30, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' + 'solute carrier family 30, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 30, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 30, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352447 Label: Progressive external ophthalmoplegia - myopathy - emaciation - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'part_of' some 'Mitochondrial DNA maintenance syndrome' - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'disease' + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA maintenance syndrome' + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_68346 Label: Rare genetic skin disease - 'Rare genetic skin disease' SubClassOf 'group of disorders' + 'Rare genetic skin disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68347 Label: Tumor of hematopoietic and lymphoid tissues - 'Tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' + 'Tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96152 Label: Distal monosomy 20q - 'Distal monosomy 20q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 20' - 'Distal monosomy 20q' SubClassOf 'malformation syndrome' + 'Distal monosomy 20q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 20' + 'Distal monosomy 20q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_279781 Label: DnaJ (Hsp40) homolog, subfamily C, member 5 - 'DnaJ (Hsp40) homolog, subfamily C, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN4B disease' - 'DnaJ (Hsp40) homolog, subfamily C, member 5' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily C, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'DnaJ (Hsp40) homolog, subfamily C, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN4B disease' + 'DnaJ (Hsp40) homolog, subfamily C, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_96150 Label: Distal monosomy 14q - 'Distal monosomy 14q' SubClassOf 'malformation syndrome' - 'Distal monosomy 14q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' + 'Distal monosomy 14q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + 'Distal monosomy 14q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308023 Label: Disease with punctate palmoplantar keratoderma as a major feature - 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293028 Label: solute carrier family 20 (phosphate transporter), member 2 - 'solute carrier family 20 (phosphate transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' - 'solute carrier family 20 (phosphate transporter), member 2' SubClassOf 'gene' + 'solute carrier family 20 (phosphate transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' + 'solute carrier family 20 (phosphate transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 20 (phosphate transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_357225 Label: Primary non-essential cutis verticis gyrata - 'Primary non-essential cutis verticis gyrata' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Primary non-essential cutis verticis gyrata' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Primary non-essential cutis verticis gyrata' SubClassOf 'disease' - 'Primary non-essential cutis verticis gyrata' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Primary non-essential cutis verticis gyrata' SubClassOf 'part_of' some 'Primary cutis verticis gyrata' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutis verticis gyrata' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Primary non-essential cutis verticis gyrata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352470 Label: Mitochondrial DNA deletion syndrome with progressive myopathy - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'disease' - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'disease' + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_293042 Label: dystonin - 'dystonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 6' - 'dystonin' SubClassOf 'gene' - 'dystonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive epidermolysis bullosa simplex' + 'dystonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 6' + 'dystonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'dystonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_238305 Label: Infundibulo-neurohypophysitis - 'Infundibulo-neurohypophysitis' SubClassOf 'disease' - 'Infundibulo-neurohypophysitis' SubClassOf 'part_of' some 'Primary hypophysitis' + 'Infundibulo-neurohypophysitis' SubClassOf 'disease' + 'Infundibulo-neurohypophysitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_357220 Label: Primary essential cutis verticis gyrata - 'Primary essential cutis verticis gyrata' SubClassOf 'part_of' some 'Primary cutis verticis gyrata' - 'Primary essential cutis verticis gyrata' SubClassOf 'disease' + 'Primary essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutis verticis gyrata' + 'Primary essential cutis verticis gyrata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391723 Label: Mucinous adenocarcinoma of the appendix - 'Mucinous adenocarcinoma of the appendix' SubClassOf 'part_of' some 'Intestinal tumor' - 'Mucinous adenocarcinoma of the appendix' SubClassOf 'disease' + 'Mucinous adenocarcinoma of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Mucinous adenocarcinoma of the appendix' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_68373 Label: Peroxisomal disease - 'Peroxisomal disease' SubClassOf 'group of disorders' + 'Peroxisomal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352479 Label: Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_68378 Label: Congenital limb malformation - 'Congenital limb malformation' SubClassOf 'group of disorders' + 'Congenital limb malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261821 Label: Partial deletion of the long arm of chromosome 12 - 'Partial deletion of the long arm of chromosome 12' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 12' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_357229 Label: ribosomal protein SA - 'ribosomal protein SA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated congenital asplenia' - 'ribosomal protein SA' SubClassOf 'gene' + 'ribosomal protein SA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein SA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated congenital asplenia' + 'ribosomal protein SA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261826 Label: Partial deletion of chromosome 16 - 'Partial deletion of chromosome 16' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_311068 Label: cyclin M2 - 'cyclin M2' SubClassOf 'gene' - 'cyclin M2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' + 'cyclin M2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin M2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' + 'cyclin M2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121891 Label: forkhead box C2 (MFH-1, mesenchyme forkhead 1) - 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lymphedema - distichiasis' - 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf 'gene' + 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lymphedema - distichiasis' Class: http://www.orpha.net/ORDO/Orphanet_96123 Label: Monosomy 22 - 'Monosomy 22' SubClassOf 'malformation syndrome' - 'Monosomy 22' SubClassOf 'part_of' some 'Total autosomal monosomy' + 'Monosomy 22' SubClassOf 'malformation syndrome' + 'Monosomy 22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal monosomy' Class: http://www.orpha.net/ORDO/Orphanet_96126 Label: Distal monosomy 7p - 'Distal monosomy 7p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 7' - 'Distal monosomy 7p' SubClassOf 'malformation syndrome' + 'Distal monosomy 7p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 7' + 'Distal monosomy 7p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96125 Label: Distal monosomy 6p - 'Distal monosomy 6p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal monosomy 6p' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Distal monosomy 6p' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 6p' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Distal monosomy 6p' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Distal monosomy 6p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 6' - 'Distal monosomy 6p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 6p' SubClassOf 'malformation syndrome' - 'Distal monosomy 6p' SubClassOf 'part_of' some 'Iridogoniodysgenesis' + 'Distal monosomy 6p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal monosomy 6p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridogoniodysgenesis' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal monosomy 6p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Distal monosomy 6p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 6' + 'Distal monosomy 6p' SubClassOf 'malformation syndrome' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Distal monosomy 6p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_279776 Label: cell adhesion associated, oncogene regulated - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'cell adhesion associated, oncogene regulated' SubClassOf 'gene' - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'cell adhesion associated, oncogene regulated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cell adhesion associated, oncogene regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_96121 Label: 7q11.23 microduplication syndrome - '7q11.23 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 7' - '7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + '7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + '7q11.23 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_308058 Label: interferon induced transmembrane protein 5 - 'interferon induced transmembrane protein 5' SubClassOf 'gene' - 'interferon induced transmembrane protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' + 'interferon induced transmembrane protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'interferon induced transmembrane protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon induced transmembrane protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' Class: http://www.orpha.net/ORDO/Orphanet_279771 Label: kinesin family member 1A - 'kinesin family member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 2' - 'kinesin family member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 30' - 'kinesin family member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'kinesin family member 1A' SubClassOf 'gene' + 'kinesin family member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 30' + 'kinesin family member 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.2"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'kinesin family member 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary sensory and autonomic neuropathy type 2' Class: http://www.orpha.net/ORDO/Orphanet_308053 Label: PHD finger protein 21A - 'PHD finger protein 21A' SubClassOf 'gene' - 'PHD finger protein 21A' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' + 'PHD finger protein 21A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PHD finger protein 21A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'PHD finger protein 21A' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121895 Label: forkhead box E1 (thyroid transcription factor 2) - 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' - 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bamforth-Lazarus syndrome' - 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' - 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'gene' + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box E1 (thyroid transcription factor 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bamforth-Lazarus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357214 Label: ring finger protein 216 - 'ring finger protein 216' SubClassOf 'gene' - 'ring finger protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' + 'ring finger protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ring finger protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'ring finger protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cerebellar ataxia - hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_68361 Label: Rare deafness - 'Rare deafness' SubClassOf 'group of disorders' + 'Rare deafness' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68362 Label: Rare vascular disease - 'Rare vascular disease' SubClassOf 'group of disorders' + 'Rare vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68363 Label: Rare dystonia - 'Rare dystonia' SubClassOf 'group of disorders' + 'Rare dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_50251 Label: Mesothelioma - 'Mesothelioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mesothelioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mesothelioma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Mesothelioma' SubClassOf 'disease' - 'Mesothelioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mesothelioma' SubClassOf 'disease' + 'Mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Mesothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_68364 Label: Hemoglobinopathy - 'Hemoglobinopathy' SubClassOf 'group of disorders' + 'Hemoglobinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68366 Label: Lysosomal disease - 'Lysosomal disease' SubClassOf 'group of disorders' + 'Lysosomal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68367 Label: Inborn errors of metabolism - 'Inborn errors of metabolism' SubClassOf 'group of disorders' + 'Inborn errors of metabolism' SubClassOf 'group of disorders' + 'Inborn errors of metabolism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_261811 Label: Partial deletion of chromosome 10 - 'Partial deletion of chromosome 10' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96129 Label: Distal monosomy 19p13.3 - 'Distal monosomy 19p13.3' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 19' - 'Distal monosomy 19p13.3' SubClassOf 'malformation syndrome' + 'Distal monosomy 19p13.3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 19' + 'Distal monosomy 19p13.3' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261816 Label: Partial deletion of chromosome 11 - 'Partial deletion of chromosome 11' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96136 Label: Non-distal monosomy 7p - 'Non-distal monosomy 7p' SubClassOf 'malformation syndrome' - 'Non-distal monosomy 7p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 7' + 'Non-distal monosomy 7p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 7' + 'Non-distal monosomy 7p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370364 Label: TRAF3 interacting protein 2 - 'TRAF3 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'TRAF3 interacting protein 2' SubClassOf 'gene' + 'TRAF3 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'TRAF3 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'TRAF3 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_279764 Label: mediator complex subunit 23 - 'mediator complex subunit 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'mediator complex subunit 23' SubClassOf 'gene' + 'mediator complex subunit 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mediator complex subunit 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'mediator complex subunit 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.33-q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308041 Label: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119601 Label: aldolase B, fructose-bisphosphate - 'aldolase B, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary fructose intolerance' - 'aldolase B, fructose-bisphosphate' SubClassOf 'gene' + 'aldolase B, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary fructose intolerance' + 'aldolase B, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.3-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'aldolase B, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119603 Label: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase - 'ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG1-CDG' - 'ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase' SubClassOf 'gene' + 'ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG1-CDG' + 'ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_300564 Label: Combined pulmonary fibrosis-emphysema syndrome - 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'disease' - 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' + 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'disease' + 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_201300 Label: stromal interaction molecule 1 - 'stromal interaction molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stormorken-Sjaastad-Langslet syndrome' - 'stromal interaction molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to STIM1 deficiency' - 'stromal interaction molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tubular aggregate myopathy' - 'stromal interaction molecule 1' SubClassOf 'gene' + 'stromal interaction molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'stromal interaction molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to STIM1 deficiency' + 'stromal interaction molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'stromal interaction molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Tubular aggregate myopathy' + 'stromal interaction molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Stormorken-Sjaastad-Langslet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96180 Label: Maternal uniparental disomy of chromosome 4 - 'Maternal uniparental disomy of chromosome 4' SubClassOf 'malformation syndrome' - 'Maternal uniparental disomy of chromosome 4' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 4' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96181 Label: Maternal uniparental disomy of chromosome 6 - 'Maternal uniparental disomy of chromosome 6' SubClassOf 'malformation syndrome' - 'Maternal uniparental disomy of chromosome 6' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 6' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96182 Label: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'part_of' some 'Silver-Russell syndrome' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_169349 Label: Immuno-osseous dysplasia - 'Immuno-osseous dysplasia' SubClassOf 'group of disorders' + 'Immuno-osseous dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96183 Label: Maternal uniparental disomy of chromosome 9 - 'Maternal uniparental disomy of chromosome 9' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 9' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 9' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169346 Label: DNA repair defect other than combined T-cell and B-cell immunodeficiencies - 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'group of disorders' + 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96184 Label: Maternal uniparental disomy of chromosome 14 - 'Maternal uniparental disomy of chromosome 14' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 14' SubClassOf 'etiological subtype' - 'Maternal uniparental disomy of chromosome 14' SubClassOf 'part_of' some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' + 'Maternal uniparental disomy of chromosome 14' SubClassOf 'etiological subtype' + 'Maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' Class: http://www.orpha.net/ORDO/Orphanet_96185 Label: Maternal uniparental disomy of chromosome 16 - 'Maternal uniparental disomy of chromosome 16' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Maternal uniparental disomy of chromosome 16' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 16' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Maternal uniparental disomy of chromosome 16' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96186 Label: Maternal uniparental disomy of chromosome 20 - 'Maternal uniparental disomy of chromosome 20' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 20' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 20' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370396 Label: Small cell carcinoma of the ovary - 'Small cell carcinoma of the ovary' SubClassOf 'disease' - 'Small cell carcinoma of the ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Small cell carcinoma of the ovary' SubClassOf 'disease' + 'Small cell carcinoma of the ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_96187 Label: Maternal uniparental disomy of chromosome 21 - 'Maternal uniparental disomy of chromosome 21' SubClassOf 'malformation syndrome' - 'Maternal uniparental disomy of chromosome 21' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 21' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96188 Label: Maternal uniparental disomy of chromosome 22 - 'Maternal uniparental disomy of chromosome 22' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 22' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 22' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268994 Label: Isolated focal cortical dysplasia type II - 'Isolated focal cortical dysplasia type II' SubClassOf 'clinical subtype' - 'Isolated focal cortical dysplasia type II' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia' - 'Isolated focal cortical dysplasia type II' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated focal cortical dysplasia type II' SubClassOf 'clinical subtype' + 'Isolated focal cortical dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_300570 Label: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'disease' - 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'disease' + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_327301 Label: ras homolog family member H - 'ras homolog family member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-cell immunodeficiency with epidermodysplasia verruciformis' - 'ras homolog family member H' SubClassOf 'gene' + 'ras homolog family member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p13"^^http://www.w3.org/2001/XMLSchema#string + 'ras homolog family member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ras homolog family member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'T-cell immunodeficiency with epidermodysplasia verruciformis' Class: http://www.orpha.net/ORDO/Orphanet_55881 Label: Adamantinoma - 'Adamantinoma' SubClassOf 'disease' - 'Adamantinoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Adamantinoma' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Adamantinoma' SubClassOf 'part_of' some 'Rare bone tumor' - 'Adamantinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Adamantinoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Adamantinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Adamantinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Adamantinoma' SubClassOf 'disease' + 'Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Adamantinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adamantinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Adamantinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Adamantinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_300573 Label: Polymicrogyria due to TUBB2B mutation - 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'clinical subtype' - 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'clinical subtype' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polymicrogyria due to TUBB2B mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_352403 Label: Spectrin-associated autosomal recessive cerebellar ataxia - 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'disease' - 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'disease' + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_300579 Label: Staphylococcal toxemia - 'Staphylococcal toxemia' SubClassOf 'group of disorders' + 'Staphylococcal toxemia' SubClassOf 'group of disorders' + 'Staphylococcal toxemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_68385 Label: Neurometabolic disease - 'Neurometabolic disease' SubClassOf 'group of disorders' + 'Neurometabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_55880 Label: Chondrosarcoma - 'Chondrosarcoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Chondrosarcoma' SubClassOf 'disease' - 'Chondrosarcoma' SubClassOf 'part_of' some 'Bone sarcoma' + 'Chondrosarcoma' SubClassOf 'disease' + 'Chondrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Chondrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Chondrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "3.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_300576 Label: Oligodontia - cancer predisposition syndrome - 'Oligodontia - cancer predisposition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oligodontia - cancer predisposition syndrome' SubClassOf 'disease' - 'Oligodontia - cancer predisposition syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oligodontia - cancer predisposition syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oligodontia - cancer predisposition syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Oligodontia - cancer predisposition syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oligodontia - cancer predisposition syndrome' SubClassOf 'disease' + 'Oligodontia - cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Oligodontia - cancer predisposition syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oligodontia - cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_68381 Label: Neuromuscular disease - 'Neuromuscular disease' SubClassOf 'group of disorders' + 'Neuromuscular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68380 Label: Mitochondrial disease - 'Mitochondrial disease' SubClassOf 'group of disorders' + 'Mitochondrial disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_68383 Label: Rare constitutional medullar aplasia - 'Rare constitutional medullar aplasia' SubClassOf 'group of disorders' + 'Rare constitutional medullar aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96190 Label: Paternal uniparental disomy of chromosome 5 - 'Paternal uniparental disomy of chromosome 5' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Paternal uniparental disomy of chromosome 5' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 5' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96191 Label: Paternal uniparental disomy of chromosome 6 - 'Paternal uniparental disomy of chromosome 6' SubClassOf 'malformation syndrome' - 'Paternal uniparental disomy of chromosome 6' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 6' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96194 Label: Paternal uniparental disomy of chromosome 20 - 'Paternal uniparental disomy of chromosome 20' SubClassOf 'malformation syndrome' - 'Paternal uniparental disomy of chromosome 20' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 20' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96195 Label: Paternal uniparental disomy of chromosome 21 - 'Paternal uniparental disomy of chromosome 21' SubClassOf 'malformation syndrome' - 'Paternal uniparental disomy of chromosome 21' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 21' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96192 Label: Paternal uniparental disomy of chromosome 7 - 'Paternal uniparental disomy of chromosome 7' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Paternal uniparental disomy of chromosome 7' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 7' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' Class: http://www.orpha.net/ORDO/Orphanet_96193 Label: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' + 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' Class: http://www.orpha.net/ORDO/Orphanet_327310 Label: calcium channel, voltage-dependent, L type, alpha 1D subunit - 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aldosterone-producing adenoma with seizures and neurological abnormalities' - 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sinoatrial node dysfunction and deafness' + 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Aldosterone-producing adenoma with seizures and neurological abnormalities' + 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1D subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Sinoatrial node dysfunction and deafness' Class: http://www.orpha.net/ORDO/Orphanet_319038 Label: keratin 71 - 'keratin 71' SubClassOf 'gene' - 'keratin 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'keratin 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' Class: http://www.orpha.net/ORDO/Orphanet_118498 Label: sodium channel, voltage-gated, type I, beta subunit - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial progressive cardiac conduction defect' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial progressive cardiac conduction defect' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dravet syndrome' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_610 Label: Bethlem myopathy - 'Bethlem myopathy' SubClassOf 'disease' - 'Bethlem myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' - 'Bethlem myopathy' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Bethlem myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bethlem myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bethlem myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bethlem myopathy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Bethlem myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Bethlem myopathy' SubClassOf 'disease' + 'Bethlem myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of collagen 6' + 'Bethlem myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Bethlem myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bethlem myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bethlem myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Bethlem myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_102381 Label: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor - 'Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor' SubClassOf 'part_of' some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' - 'Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor' SubClassOf 'disease' + 'Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor' SubClassOf 'disease' + 'Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_611 Label: Inclusion body myositis - 'Inclusion body myositis' SubClassOf 'disease' - 'Inclusion body myositis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Inclusion body myositis' SubClassOf 'has_inheritance' some 'sporadic' - 'Inclusion body myositis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Inclusion body myositis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Inclusion body myositis' SubClassOf 'disease' + 'Inclusion body myositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Inclusion body myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Inclusion body myositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.49"^^http://www.w3.org/2001/XMLSchema#string) + 'Inclusion body myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_612 Label: Potassium-aggravated myotonia - 'Potassium-aggravated myotonia' SubClassOf 'group of disorders' - 'Potassium-aggravated myotonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Potassium-aggravated myotonia' SubClassOf 'has_prevalence' some 'Unknown' - 'Potassium-aggravated myotonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Potassium-aggravated myotonia' SubClassOf 'group of disorders' + 'Potassium-aggravated myotonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Potassium-aggravated myotonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_364063 Label: Infantile epileptic-dyskinetic encephalopathy - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'disease' - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'disease' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_226058 Label: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 - 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, musculocontractural type' - 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14' SubClassOf 'gene' + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, musculocontractural type' Class: http://www.orpha.net/ORDO/Orphanet_300547 Label: Autosomal recessive infantile hypercalcemia - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'part_of' some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'part_of' some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal recessive infantile hypercalcemia' SubClassOf 'disease' + 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Autosomal recessive infantile hypercalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Autosomal recessive infantile hypercalcemia' SubClassOf 'disease' + 'Autosomal recessive infantile hypercalcemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_293085 Label: calcium channel, voltage-dependent, gamma subunit 2 - 'calcium channel, voltage-dependent, gamma subunit 2' SubClassOf 'gene' - 'calcium channel, voltage-dependent, gamma subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'calcium channel, voltage-dependent, gamma subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, gamma subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'calcium channel, voltage-dependent, gamma subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96160 Label: Non-distal monosomy 12q - 'Non-distal monosomy 12q' SubClassOf 'malformation syndrome' - 'Non-distal monosomy 12q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 12' + 'Non-distal monosomy 12q' SubClassOf 'malformation syndrome' + 'Non-distal monosomy 12q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_97293 Label: Rare benign ovarian tumor - 'Rare benign ovarian tumor' SubClassOf 'group of disorders' + 'Rare benign ovarian tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138895 Label: mitochondrially encoded tRNA leucine 1 (UUA/G) - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'gene' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' Class: http://www.orpha.net/ORDO/Orphanet_97290 Label: Familial papillary thyroid carcinoma with renal papillary neoplasia - 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'part_of' some 'Familial nonmedullary thyroid carcinoma' - 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'disease' - 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'part_of' some 'Thyroid carcinoma' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial nonmedullary thyroid carcinoma' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'disease' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_96167 Label: Recombinant 8 syndrome - 'Recombinant 8 syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Recombinant 8 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recombinant 8 syndrome' SubClassOf 'malformation syndrome' - 'Recombinant 8 syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' + 'Recombinant 8 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recombinant 8 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recombinant 8 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Recombinant 8 syndrome' SubClassOf 'malformation syndrome' + 'Recombinant 8 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_96168 Label: Monosomy 13q34 - 'Monosomy 13q34' SubClassOf 'malformation syndrome' - 'Monosomy 13q34' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Monosomy 13q34' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 13' - 'Monosomy 13q34' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Monosomy 13q34' SubClassOf 'malformation syndrome' + 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 13' + 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_603 Label: Distal myopathy, Welander type - 'Distal myopathy, Welander type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal myopathy, Welander type' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Distal myopathy, Welander type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Distal myopathy, Welander type' SubClassOf 'disease' - 'Distal myopathy, Welander type' SubClassOf 'has_prevalence' some 'Unknown' + 'Distal myopathy, Welander type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Distal myopathy, Welander type' SubClassOf 'disease' + 'Distal myopathy, Welander type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy, Welander type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Distal myopathy, Welander type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_96169 Label: Koolen-De Vries syndrome - 'Koolen-De Vries syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Koolen-De Vries syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Koolen-De Vries syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Koolen-De Vries syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Koolen-De Vries syndrome' SubClassOf 'malformation syndrome' + 'Koolen-De Vries syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Koolen-De Vries syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Koolen-De Vries syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Koolen-De Vries syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Koolen-De Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Koolen-De Vries syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_606 Label: Proximal myotonic myopathy - 'Proximal myotonic myopathy' SubClassOf 'part_of' some 'Ptosis' - 'Proximal myotonic myopathy' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Proximal myotonic myopathy' SubClassOf 'disease' - 'Proximal myotonic myopathy' SubClassOf 'part_of' some 'Myotonic dystrophy' - 'Proximal myotonic myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Proximal myotonic myopathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Proximal myotonic myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Proximal myotonic myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal myotonic myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal myotonic myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal myotonic myopathy' SubClassOf 'disease' + 'Proximal myotonic myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proximal myotonic myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal myotonic myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myotonic dystrophy' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_158300 Label: Rare genetic hematologic disease - 'Rare genetic hematologic disease' SubClassOf 'group of disorders' + 'Rare genetic hematologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_405057 Label: carboxypeptidase A1 (pancreatic) - 'carboxypeptidase A1 (pancreatic)' SubClassOf 'Major susceptibility factor in' some 'Hereditary chronic pancreatitis' - 'carboxypeptidase A1 (pancreatic)' SubClassOf 'gene' + 'carboxypeptidase A1 (pancreatic)' SubClassOf 'Major susceptibility factor in' some 'Hereditary chronic pancreatitis' + 'carboxypeptidase A1 (pancreatic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carboxypeptidase A1 (pancreatic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_169361 Label: Immune dysregulation disease with immunodeficiency - 'Immune dysregulation disease with immunodeficiency' SubClassOf 'group of disorders' + 'Immune dysregulation disease with immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96164 Label: Non-distal monosomy 20q - 'Non-distal monosomy 20q' SubClassOf 'malformation syndrome' - 'Non-distal monosomy 20q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 20' + 'Non-distal monosomy 20q' SubClassOf 'malformation syndrome' + 'Non-distal monosomy 20q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_607 Label: Nemaline myopathy - 'Nemaline myopathy' SubClassOf 'disease' - 'Nemaline myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Nemaline myopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Nemaline myopathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nemaline myopathy' SubClassOf 'disease' + 'Nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_319033 Label: rotatin - 'rotatin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' - 'rotatin' SubClassOf 'gene' + 'rotatin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' + 'rotatin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'rotatin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97297 Label: Bohring-Opitz syndrome - 'Bohring-Opitz syndrome' SubClassOf 'malformation syndrome' - 'Bohring-Opitz syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bohring-Opitz syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bohring-Opitz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bohring-Opitz syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Bohring-Opitz syndrome' SubClassOf 'malformation syndrome' + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bohring-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_609 Label: Tibial muscular dystrophy - 'Tibial muscular dystrophy' SubClassOf 'disease' - 'Tibial muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Tibial muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Tibial muscular dystrophy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Tibial muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of titin' - 'Tibial muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tibial muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tibial muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of titin' + 'Tibial muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tibial muscular dystrophy' SubClassOf 'disease' + 'Tibial muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tibial muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tibial muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Tibial muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_226051 Label: euchromatic histone-lysine N-methyltransferase 1 - 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf 'gene' - 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf 'Role in the phenotype of' some 'Kleefstra syndrome due to 9q34 microdeletion' - 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kleefstra syndrome due to a point mutation' + 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf 'Role in the phenotype of' some 'Kleefstra syndrome due to 9q34 microdeletion' + 'euchromatic histone-lysine N-methyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kleefstra syndrome due to a point mutation' Class: http://www.orpha.net/ORDO/Orphanet_118487 Label: sterol-C5-desaturase - 'sterol-C5-desaturase' SubClassOf 'gene' - 'sterol-C5-desaturase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lathosterolosis' + 'sterol-C5-desaturase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sterol-C5-desaturase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sterol-C5-desaturase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lathosterolosis' Class: http://www.orpha.net/ORDO/Orphanet_300552 Label: Follicular cholangitis and pancreatitis - 'Follicular cholangitis and pancreatitis' SubClassOf 'disease' - 'Follicular cholangitis and pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Follicular cholangitis and pancreatitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Follicular cholangitis and pancreatitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Follicular cholangitis and pancreatitis' SubClassOf 'part_of' some 'Rare biliary tract disease' + 'Follicular cholangitis and pancreatitis' SubClassOf 'disease' + 'Follicular cholangitis and pancreatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Follicular cholangitis and pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Follicular cholangitis and pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Follicular cholangitis and pancreatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Follicular cholangitis and pancreatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_293091 Label: erythrocyte membrane protein band 4.1-like 1 - 'erythrocyte membrane protein band 4.1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'erythrocyte membrane protein band 4.1-like 1' SubClassOf 'gene' + 'erythrocyte membrane protein band 4.1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'erythrocyte membrane protein band 4.1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2-q12"^^http://www.w3.org/2001/XMLSchema#string + 'erythrocyte membrane protein band 4.1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_602 Label: Distal myopathy, Nonaka type - 'Distal myopathy, Nonaka type' SubClassOf 'disease' - 'Distal myopathy, Nonaka type' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Distal myopathy, Nonaka type' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'Distal myopathy, Nonaka type' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Distal myopathy, Nonaka type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal myopathy, Nonaka type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Distal myopathy, Nonaka type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' - 'Distal myopathy, Nonaka type' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' - 'Distal myopathy, Nonaka type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'Distal myopathy, Nonaka type' SubClassOf 'disease' + 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' + 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' + 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Distal myopathy, Nonaka type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal myopathy, Nonaka type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Distal myopathy, Nonaka type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_118489 Label: sodium channel, voltage-gated, type I, alpha subunit - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600 Label: Distal myopathy with vocal cord weakness - 'Distal myopathy with vocal cord weakness' SubClassOf 'disease' - 'Distal myopathy with vocal cord weakness' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Distal myopathy with vocal cord weakness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal myopathy with vocal cord weakness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal myopathy with vocal cord weakness' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Distal myopathy with vocal cord weakness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Distal myopathy with vocal cord weakness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy with vocal cord weakness' SubClassOf 'disease' + 'Distal myopathy with vocal cord weakness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal myopathy with vocal cord weakness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_293095 Label: AT rich interactive domain 1B (SWI1-like) - 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'intellectual disability - sparse hair - brachydactyly' - 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Role in the phenotype of' some '6q25 microdeletion syndrome' - 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'gene' - 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Role in the phenotype of' some '6q25 microdeletion syndrome' + 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'intellectual disability - sparse hair - brachydactyly' + 'AT rich interactive domain 1B (SWI1-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'AT rich interactive domain 1B (SWI1-like)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'AT rich interactive domain 1B (SWI1-like)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' Class: http://www.orpha.net/ORDO/Orphanet_300557 Label: Carcinoma of the ampulla of Vater - 'Carcinoma of the ampulla of Vater' SubClassOf 'part_of' some 'Rare hepatic and biliary tract tumor' - 'Carcinoma of the ampulla of Vater' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Carcinoma of the ampulla of Vater' SubClassOf 'disease' - 'Carcinoma of the ampulla of Vater' SubClassOf 'has_inheritance' some 'sporadic' - 'Carcinoma of the ampulla of Vater' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Carcinoma of the ampulla of Vater' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Carcinoma of the ampulla of Vater' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic and biliary tract tumor' + 'Carcinoma of the ampulla of Vater' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Carcinoma of the ampulla of Vater' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Carcinoma of the ampulla of Vater' SubClassOf 'disease' + 'Carcinoma of the ampulla of Vater' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Carcinoma of the ampulla of Vater' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.57"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_96172 Label: Ring chromosome 3 - 'Ring chromosome 3' SubClassOf 'malformation syndrome' - 'Ring chromosome 3' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 3' SubClassOf 'malformation syndrome' + 'Ring chromosome 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96173 Label: Ring chromosome 9 - 'Ring chromosome 9' SubClassOf 'malformation syndrome' - 'Ring chromosome 9' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 9' SubClassOf 'malformation syndrome' + 'Ring chromosome 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96170 Label: Emanuel syndrome - 'Emanuel syndrome' SubClassOf 'malformation syndrome' - 'Emanuel syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' - 'Emanuel syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Emanuel syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' + 'Emanuel syndrome' SubClassOf 'malformation syndrome' + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_96171 Label: Ring chromosome 2 - 'Ring chromosome 2' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 2' SubClassOf 'malformation syndrome' + 'Ring chromosome 2' SubClassOf 'malformation syndrome' + 'Ring chromosome 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96178 Label: Ring chromosome 16 - 'Ring chromosome 16' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 16' SubClassOf 'malformation syndrome' + 'Ring chromosome 16' SubClassOf 'malformation syndrome' + 'Ring chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_178996 Label: Acquired neutropenia - 'Acquired neutropenia' SubClassOf 'group of disorders' + 'Acquired neutropenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96179 Label: Maternal uniparental disomy of chromosome 2 - 'Maternal uniparental disomy of chromosome 2' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 2' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 2' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96176 Label: Ring chromosome 13 - 'Ring chromosome 13' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 13' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Ring chromosome 13' SubClassOf 'malformation syndrome' + 'Ring chromosome 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 13' SubClassOf 'malformation syndrome' + 'Ring chromosome 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_96177 Label: Ring chromosome 15 - 'Ring chromosome 15' SubClassOf 'malformation syndrome' - 'Ring chromosome 15' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 15' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118482 Label: SET binding factor 2 - 'SET binding factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B2' - 'SET binding factor 2' SubClassOf 'gene' + 'SET binding factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.3"^^http://www.w3.org/2001/XMLSchema#string + 'SET binding factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B2' + 'SET binding factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169355 Label: Immunodeficiency syndrome with autoimmunity - 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'group of disorders' + 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_96175 Label: Ring chromosome 11 - 'Ring chromosome 11' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 11' SubClassOf 'malformation syndrome' + 'Ring chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 11' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268950 Label: Cerebral cortical dysplasia - 'Cerebral cortical dysplasia' SubClassOf 'group of disorders' + 'Cerebral cortical dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_97275 Label: Encephalitis - 'Encephalitis' SubClassOf 'group of disorders' + 'Encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120380 Label: UDP glucuronosyltransferase 1 family, polypeptide A1 - 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'gene' - 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crigler-Najjar syndrome type 1' - 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crigler-Najjar syndrome type 2' - 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Major susceptibility factor in' some 'Transient familial neonatal hyperbilirubinemia' + 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crigler-Najjar syndrome type 1' + 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crigler-Najjar syndrome type 2' + 'UDP glucuronosyltransferase 1 family, polypeptide A1' SubClassOf 'Major susceptibility factor in' some 'Transient familial neonatal hyperbilirubinemia' Class: http://www.orpha.net/ORDO/Orphanet_629 Label: Short stature due to growth hormone qualitative anomaly - 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' - 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'clinical subtype' - 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature due to growth hormone qualitative anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature due to growth hormone qualitative anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired isolated growth hormone deficiency' + 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'clinical subtype' + 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_97278 Label: PPoma - 'PPoma' SubClassOf 'disease' - 'PPoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' + 'PPoma' SubClassOf 'disease' + 'PPoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_627 Label: Nance-Horan syndrome - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Nance-Horan syndrome' SubClassOf 'malformation syndrome' - 'Nance-Horan syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Nance-Horan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'Dentocutaneous disease with cataract' - 'Nance-Horan syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Nance-Horan syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentocutaneous disease with cataract' + 'Nance-Horan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Nance-Horan syndrome' SubClassOf 'malformation syndrome' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Nance-Horan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_330673 Label: regulator of telomere elongation helicase 1 - 'regulator of telomere elongation helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'regulator of telomere elongation helicase 1' SubClassOf 'gene' - 'regulator of telomere elongation helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' + 'regulator of telomere elongation helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'regulator of telomere elongation helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'regulator of telomere elongation helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulator of telomere elongation helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97279 Label: Insulinoma - 'Insulinoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' - 'Insulinoma' SubClassOf 'disease' + 'Insulinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Insulinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Insulinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Insulinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' + 'Insulinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_628 Label: Diastrophic dwarfism - 'Diastrophic dwarfism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diastrophic dwarfism' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Diastrophic dwarfism' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Diastrophic dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diastrophic dwarfism' SubClassOf 'disease' - 'Diastrophic dwarfism' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Diastrophic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Diastrophic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diastrophic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Diastrophic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Diastrophic dwarfism' SubClassOf 'disease' + 'Diastrophic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diastrophic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Diastrophic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_626 Label: Large congenital melanocytic nevus - 'Large congenital melanocytic nevus' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Large congenital melanocytic nevus' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Large congenital melanocytic nevus' SubClassOf 'part_of' some 'Rare nevus' - 'Large congenital melanocytic nevus' SubClassOf 'disease' - 'Large congenital melanocytic nevus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Large congenital melanocytic nevus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Large congenital melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Large congenital melanocytic nevus' SubClassOf 'disease' + 'Large congenital melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Large congenital melanocytic nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Large congenital melanocytic nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_231692 Label: Isolated growth hormone deficiency type III - 'Isolated growth hormone deficiency type III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated growth hormone deficiency type III' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isolated growth hormone deficiency type III' SubClassOf 'clinical subtype' - 'Isolated growth hormone deficiency type III' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated growth hormone deficiency type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isolated growth hormone deficiency type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated growth hormone deficiency type III' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_91359 Label: Chronic pneumonitis of infancy - 'Chronic pneumonitis of infancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic pneumonitis of infancy' SubClassOf 'has_prevalence' some 'Unknown' - 'Chronic pneumonitis of infancy' SubClassOf 'disease' - 'Chronic pneumonitis of infancy' SubClassOf 'part_of' some 'Interstitial lung disease specific to infancy' - 'Chronic pneumonitis of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Chronic pneumonitis of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic pneumonitis of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chronic pneumonitis of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chronic pneumonitis of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interstitial lung disease specific to infancy' + 'Chronic pneumonitis of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_635 Label: Neuroblastoma - 'Neuroblastoma' SubClassOf 'disease' - 'Neuroblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neuroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuroblastoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Neuroblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' + 'Neuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroblastoma' SubClassOf 'disease' + 'Neuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Neuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_369815 Label: septin 14 - 'septin 14' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' - 'septin 14' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'septin 14' SubClassOf 'gene' + 'septin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'septin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'septin 14' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'septin 14' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_119647 Label: ALX homeobox 4 - 'ALX homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontonasal dysplasia with alopecia and genital anomaly' - 'ALX homeobox 4' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' - 'ALX homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parietal foramina' - 'ALX homeobox 4' SubClassOf 'gene' - 'ALX homeobox 4' SubClassOf 'Major susceptibility factor in' some 'Isolated scaphocephaly' + 'ALX homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontonasal dysplasia with alopecia and genital anomaly' + 'ALX homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Parietal foramina' + 'ALX homeobox 4' SubClassOf 'Role in the phenotype of' some 'Potocki-Shaffer syndrome' + 'ALX homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALX homeobox 4' SubClassOf 'Major susceptibility factor in' some 'Isolated scaphocephaly' + 'ALX homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_634 Label: Netherton syndrome - 'Netherton syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Netherton syndrome' SubClassOf 'part_of' some 'Eyebrow/eyelashes structural anomaly' - 'Netherton syndrome' SubClassOf 'part_of' some 'Ichthyosis associated with ocular features' - 'Netherton syndrome' SubClassOf 'disease' - 'Netherton syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Netherton syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' - 'Netherton syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Netherton syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Netherton syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Netherton syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes structural anomaly' + 'Netherton syndrome' SubClassOf 'disease' + 'Netherton syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ichthyosis associated with ocular features' + 'Netherton syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Netherton syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Netherton syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Netherton syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_91357 Label: Duplication of the esophagus - 'Duplication of the esophagus' SubClassOf 'group of disorders' + 'Duplication of the esophagus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_633 Label: Laron syndrome - 'Laron syndrome' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Laron syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Laron syndrome' SubClassOf 'disease' - 'Laron syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Laron syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Laron syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Laron syndrome' SubClassOf 'disease' + 'Laron syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laron syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laron syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Laron syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_91358 Label: Congenital esophageal diverticulum - 'Congenital esophageal diverticulum' SubClassOf 'part_of' some 'Non-syndromic esophageal malformation' - 'Congenital esophageal diverticulum' SubClassOf 'morphological anomaly' + 'Congenital esophageal diverticulum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic esophageal malformation' + 'Congenital esophageal diverticulum' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_632 Label: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' - 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'clinical subtype' + 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic agammaglobulinemia' + 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119644 Label: amyotrophic lateral sclerosis 2 (juvenile) - 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'gene' - 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile primary lateral sclerosis' - 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset ascending hereditary spastic paralysis' + 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q35"^^http://www.w3.org/2001/XMLSchema#string + 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile primary lateral sclerosis' + 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amyotrophic lateral sclerosis 2 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset ascending hereditary spastic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_91355 Label: Sheehan syndrome - 'Sheehan syndrome' SubClassOf 'part_of' some 'Pituitary hormone defiency from vascular origin' - 'Sheehan syndrome' SubClassOf 'malformation syndrome' + 'Sheehan syndrome' SubClassOf 'malformation syndrome' + 'Sheehan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone defiency from vascular origin' Class: http://www.orpha.net/ORDO/Orphanet_631 Label: Non-acquired isolated growth hormone deficiency - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' - 'Non-acquired isolated growth hormone deficiency' SubClassOf 'disease' + 'Non-acquired isolated growth hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Non-acquired isolated growth hormone deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-acquired isolated growth hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Non-acquired isolated growth hormone deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_369810 Label: leucine-zipper-like transcription regulator 1 - 'leucine-zipper-like transcription regulator 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gliosarcoma' - 'leucine-zipper-like transcription regulator 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Giant cell glioblastoma' - 'leucine-zipper-like transcription regulator 1' SubClassOf 'gene' - 'leucine-zipper-like transcription regulator 1' SubClassOf 'Major susceptibility factor in' some 'Neurofibromatosis type 3' + 'leucine-zipper-like transcription regulator 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gliosarcoma' + 'leucine-zipper-like transcription regulator 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Giant cell glioblastoma' + 'leucine-zipper-like transcription regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'leucine-zipper-like transcription regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-zipper-like transcription regulator 1' SubClassOf 'Major susceptibility factor in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_91353 Label: Choristoma - 'Choristoma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Choristoma' SubClassOf 'disease' - 'Choristoma' SubClassOf 'part_of' some 'Rare tumor' + 'Choristoma' SubClassOf 'disease' + 'Choristoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Choristoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tumor' Class: http://www.orpha.net/ORDO/Orphanet_91354 Label: Pituitary deficiency due to empty sella turcica syndrome - 'Pituitary deficiency due to empty sella turcica syndrome' SubClassOf 'part_of' some 'Pituitary hormone deficiency from meningeal origin' - 'Pituitary deficiency due to empty sella turcica syndrome' SubClassOf 'disease' + 'Pituitary deficiency due to empty sella turcica syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from meningeal origin' + 'Pituitary deficiency due to empty sella turcica syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119640 Label: alkaline phosphatase, liver/bone/kidney - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult hypophosphatasia' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'gene' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypophosphatasia' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset hypophosphatasia' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odontohypophosphatasia' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perinatal lethal hypophosphatasia' - 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prenatal benign hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Odontohypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.12"^^http://www.w3.org/2001/XMLSchema#string + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perinatal lethal hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prenatal benign hypophosphatasia' + 'alkaline phosphatase, liver/bone/kidney' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97287 Label: Bronchial endocrine tumor - 'Bronchial endocrine tumor' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Bronchial endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Bronchial endocrine tumor' SubClassOf 'disease' + 'Bronchial endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Bronchial endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Bronchial endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91350 Label: Pituitary deficiency due to Rathke's pouch cysts - 'Pituitary deficiency due to Rathke's pouch cysts' SubClassOf 'disease' - 'Pituitary deficiency due to Rathke's pouch cysts' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' + 'Pituitary deficiency due to Rathke's pouch cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Pituitary deficiency due to Rathke's pouch cysts' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_618 Label: Familial melanoma - 'Familial melanoma' SubClassOf 'disease' - 'Familial melanoma' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Familial melanoma' SubClassOf 'part_of' some 'Palpebral malignant melanoma' - 'Familial melanoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial melanoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial melanoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial melanoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Familial melanoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Familial melanoma' SubClassOf 'disease' + 'Familial melanoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial melanoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Familial melanoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Familial melanoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral malignant melanoma' Class: http://www.orpha.net/ORDO/Orphanet_97285 Label: Thyroid lymphoma - 'Thyroid lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Thyroid lymphoma' SubClassOf 'part_of' some 'Thyroid tumor' - 'Thyroid lymphoma' SubClassOf 'disease' + 'Thyroid lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid tumor' + 'Thyroid lymphoma' SubClassOf 'disease' + 'Thyroid lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_91352 Label: Germinoma of the central nervous system - 'Germinoma of the central nervous system' SubClassOf 'clinical subtype' - 'Germinoma of the central nervous system' SubClassOf 'part_of' some 'Extragonadal germinoma' - 'Germinoma of the central nervous system' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Germinoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Germinoma of the central nervous system' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Germinoma of the central nervous system' SubClassOf 'has_inheritance' some 'sporadic' + 'Germinoma of the central nervous system' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Germinoma of the central nervous system' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Germinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal germinoma' + 'Germinoma of the central nervous system' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Germinoma of the central nervous system' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_330666 Label: actinin, alpha 1 - 'actinin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' - 'actinin, alpha 1' SubClassOf 'gene' + 'actinin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actinin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'actinin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_268961 Label: Isolated focal cortical dysplasia type I - 'Isolated focal cortical dysplasia type I' SubClassOf 'clinical subtype' - 'Isolated focal cortical dysplasia type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type I' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia' + 'Isolated focal cortical dysplasia type I' SubClassOf 'clinical subtype' + 'Isolated focal cortical dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_97286 Label: Carney-Stratakis syndrome - 'Carney-Stratakis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Carney-Stratakis syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Carney-Stratakis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carney-Stratakis syndrome' SubClassOf 'disease' - 'Carney-Stratakis syndrome' SubClassOf 'part_of' some 'Multiple polyglandular tumor' + 'Carney-Stratakis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Carney-Stratakis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carney-Stratakis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Carney-Stratakis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Carney-Stratakis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Carney-Stratakis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91351 Label: Pituitary dermoid and epidermoid cysts - 'Pituitary dermoid and epidermoid cysts' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Pituitary dermoid and epidermoid cysts' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Pituitary dermoid and epidermoid cysts' SubClassOf 'disease' + 'Pituitary dermoid and epidermoid cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Pituitary dermoid and epidermoid cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Pituitary dermoid and epidermoid cysts' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_614 Label: Thomsen and Becker disease - 'Thomsen and Becker disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Thomsen and Becker disease' SubClassOf 'part_of' some 'Congenital myotonia' - 'Thomsen and Becker disease' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Thomsen and Becker disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thomsen and Becker disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thomsen and Becker disease' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Thomsen and Becker disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thomsen and Becker disease' SubClassOf 'disease' + 'Thomsen and Becker disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myotonia' + 'Thomsen and Becker disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Thomsen and Becker disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Thomsen and Becker disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thomsen and Becker disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thomsen and Becker disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Thomsen and Becker disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Thomsen and Becker disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Thomsen and Becker disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thomsen and Becker disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Thomsen and Becker disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thomsen and Becker disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thomsen and Becker disease' SubClassOf 'disease' + 'Thomsen and Becker disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_615 Label: Familial atrial myxoma - 'Familial atrial myxoma' SubClassOf 'disease' - 'Familial atrial myxoma' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Familial atrial myxoma' SubClassOf 'part_of' some 'Genetic cardiac tumor' + 'Familial atrial myxoma' SubClassOf 'disease' + 'Familial atrial myxoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Familial atrial myxoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_97289 Label: Thymic endocrine tumor - 'Thymic endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor' - 'Thymic endocrine tumor' SubClassOf 'part_of' some 'Thymic tumor' - 'Thymic endocrine tumor' SubClassOf 'disease' + 'Thymic endocrine tumor' SubClassOf 'disease' + 'Thymic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor' + 'Thymic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic tumor' Class: http://www.orpha.net/ORDO/Orphanet_616 Label: Medulloblastoma - 'Medulloblastoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Medulloblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Medulloblastoma' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' - 'Medulloblastoma' SubClassOf 'disease' + 'Medulloblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Medulloblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal tumor of the neuroepithelial tissue' + 'Medulloblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Medulloblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Medulloblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_617 Label: Congenital primary megaureter - 'Congenital primary megaureter' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Congenital primary megaureter' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital primary megaureter' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male and female' - 'Congenital primary megaureter' SubClassOf 'morphological anomaly' - 'Congenital primary megaureter' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital primary megaureter' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Congenital primary megaureter' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital primary megaureter' SubClassOf 'morphological anomaly' + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male and female' + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Congenital primary megaureter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_97280 Label: Glucagonoma - 'Glucagonoma' SubClassOf 'disease' - 'Glucagonoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' + 'Glucagonoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' + 'Glucagonoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97283 Label: Somatostatinoma - 'Somatostatinoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' - 'Somatostatinoma' SubClassOf 'disease' + 'Somatostatinoma' SubClassOf 'disease' + 'Somatostatinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_97282 Label: VIPoma - 'VIPoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' - 'VIPoma' SubClassOf 'disease' + 'VIPoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' + 'VIPoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119637 Label: arachidonate lipoxygenase 3 - 'arachidonate lipoxygenase 3' SubClassOf 'gene' - 'arachidonate lipoxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' - 'arachidonate lipoxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'arachidonate lipoxygenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'arachidonate lipoxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' + 'arachidonate lipoxygenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'arachidonate lipoxygenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_622 Label: Homocystinuria without methylmalonic aciduria - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'disease' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Homocystinuria without methylmalonic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Homocystinuria without methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Homocystinuria without methylmalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Homocystinuria without methylmalonic aciduria' SubClassOf 'disease' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_91347 Label: TSH-secreting pituitary adenoma - 'TSH-secreting pituitary adenoma' SubClassOf 'part_of' some 'Functioning pituitary adenoma' - 'TSH-secreting pituitary adenoma' SubClassOf 'disease' + 'TSH-secreting pituitary adenoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'TSH-secreting pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functioning pituitary adenoma' + 'TSH-secreting pituitary adenoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_621 Label: Hereditary methemoglobinemia - 'Hereditary methemoglobinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary methemoglobinemia' SubClassOf 'disease' - 'Hereditary methemoglobinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary methemoglobinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary methemoglobinemia' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Hereditary methemoglobinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary methemoglobinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary methemoglobinemia' SubClassOf 'disease' + 'Hereditary methemoglobinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_91348 Label: Functioning gonadotropic adenoma - 'Functioning gonadotropic adenoma' SubClassOf 'part_of' some 'Functioning pituitary adenoma' - 'Functioning gonadotropic adenoma' SubClassOf 'disease' + 'Functioning gonadotropic adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functioning pituitary adenoma' + 'Functioning gonadotropic adenoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_624 Label: Familial multiple nevi flammei - 'Familial multiple nevi flammei' SubClassOf 'part_of' some 'Skin vascular disease' - 'Familial multiple nevi flammei' SubClassOf 'part_of' some 'Vascular anomaly or angioma' - 'Familial multiple nevi flammei' SubClassOf 'morphological anomaly' - 'Familial multiple nevi flammei' SubClassOf 'part_of' some 'Genetic skin vascular disorder' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Familial multiple nevi flammei' SubClassOf 'morphological anomaly' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular anomaly or angioma' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_91349 Label: Non-functioning pituitary adenoma - 'Non-functioning pituitary adenoma' SubClassOf 'part_of' some 'Pituitary adenoma' - 'Non-functioning pituitary adenoma' SubClassOf 'disease' + 'Non-functioning pituitary adenoma' SubClassOf 'disease' + 'Non-functioning pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_119635 Label: arachidonate 12-lipoxygenase, 12R type - 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' - 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'gene' - 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'arachidonate 12-lipoxygenase, 12R type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' + 'arachidonate 12-lipoxygenase, 12R type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'arachidonate 12-lipoxygenase, 12R type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_52530 Label: Pseudo-von Willebrand disease - 'Pseudo-von Willebrand disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudo-von Willebrand disease' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a platelet receptor defect' - 'Pseudo-von Willebrand disease' SubClassOf 'disease' + 'Pseudo-von Willebrand disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudo-von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'Pseudo-von Willebrand disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudo-von Willebrand disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_620 Label: Common mesentery - 'Common mesentery' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Common mesentery' SubClassOf 'morphological anomaly' + 'Common mesentery' SubClassOf 'morphological anomaly' + 'Common mesentery' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_119632 Label: Alstrom syndrome 1 - 'Alstrom syndrome 1' SubClassOf 'gene' - 'Alstrom syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alstr�m syndrome' + 'Alstrom syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'Alstrom syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Alstrom syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alstr�m syndrome' Class: http://www.orpha.net/ORDO/Orphanet_317667 Label: methionyl-tRNA synthetase 2, mitochondrial - 'methionyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'methionyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia with leukoencephalopathy' + 'methionyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'methionyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methionyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia with leukoencephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_649 Label: Norrie disease - 'Norrie disease' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Norrie disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Norrie disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Norrie disease' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Norrie disease' SubClassOf 'part_of' some 'Syndromic cataract' - 'Norrie disease' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Norrie disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Norrie disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Norrie disease' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Norrie disease' SubClassOf 'malformation syndrome' + 'Norrie disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Norrie disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Norrie disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Norrie disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120361 Label: tyrosinase-related protein 1 - 'tyrosinase-related protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 3' - 'tyrosinase-related protein 1' SubClassOf 'gene' + 'tyrosinase-related protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 3' + 'tyrosinase-related protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosinase-related protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_647 Label: Nijmegen breakage syndrome - 'Nijmegen breakage syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome' SubClassOf 'malformation syndrome' - 'Nijmegen breakage syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Nijmegen breakage syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Nijmegen breakage syndrome' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Nijmegen breakage syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nijmegen breakage syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Nijmegen breakage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nijmegen breakage syndrome' SubClassOf 'malformation syndrome' + 'Nijmegen breakage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nijmegen breakage syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Nijmegen breakage syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_648 Label: Noonan syndrome - 'Noonan syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Noonan syndrome' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' - 'Noonan syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Noonan syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Noonan syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Noonan syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Noonan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Noonan syndrome' SubClassOf 'malformation syndrome' - 'Noonan syndrome' SubClassOf 'part_of' some 'Malposition of external canthus' - 'Noonan syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Noonan syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malposition of external canthus' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Noonan syndrome' SubClassOf 'malformation syndrome' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Noonan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Noonan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "70.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_97252 Label: Mega-cisterna magna - 'Mega-cisterna magna' SubClassOf 'morphological anomaly' - 'Mega-cisterna magna' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' + 'Mega-cisterna magna' SubClassOf 'morphological anomaly' + 'Mega-cisterna magna' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' Class: http://www.orpha.net/ORDO/Orphanet_91385 Label: Acquired angioedema - 'Acquired angioedema' SubClassOf 'disease' - 'Acquired angioedema' SubClassOf 'part_of' some 'Non-histaminic angioedema' - 'Acquired angioedema' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired angioedema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acquired angioedema' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acquired angioedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired angioedema' SubClassOf 'disease' + 'Acquired angioedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-histaminic angioedema' + 'Acquired angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_97253 Label: Pancreatic endocrine tumor - 'Pancreatic endocrine tumor' SubClassOf 'group of disorders' + 'Pancreatic endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic endocrine tumor' SubClassOf 'group of disorders' + 'Pancreatic endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_268973 Label: Isolated focal cortical dysplasia type Ia - 'Isolated focal cortical dysplasia type Ia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type Ia' SubClassOf 'histopathological subtype' - 'Isolated focal cortical dysplasia type Ia' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia type I' + 'Isolated focal cortical dysplasia type Ia' SubClassOf 'histopathological subtype' + 'Isolated focal cortical dysplasia type Ia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia type I' Class: http://www.orpha.net/ORDO/Orphanet_120365 Label: ubiquitin protein ligase E3A - 'ubiquitin protein ligase E3A' SubClassOf 'gene' - 'ubiquitin protein ligase E3A' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' - 'ubiquitin protein ligase E3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Angelman syndrome' + 'ubiquitin protein ligase E3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin protein ligase E3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin protein ligase E3A' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' + 'ubiquitin protein ligase E3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119629 Label: ALG9, alpha-1,2-mannosyltransferase - 'ALG9, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG9-CDG' - 'ALG9, alpha-1,2-mannosyltransferase' SubClassOf 'gene' + 'ALG9, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG9-CDG' + 'ALG9, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'ALG9, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119626 Label: ALG8, alpha-1,3-glucosyltransferase - 'ALG8, alpha-1,3-glucosyltransferase' SubClassOf 'gene' - 'ALG8, alpha-1,3-glucosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG8-CDG' + 'ALG8, alpha-1,3-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG8, alpha-1,3-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'ALG8, alpha-1,3-glucosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG8-CDG' Class: http://www.orpha.net/ORDO/Orphanet_310050 Label: Acquired immunodeficiency - 'Acquired immunodeficiency' SubClassOf 'group of disorders' + 'Acquired immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247768 Label: Atypical Mayer-Rokitansky-K�ster-Hauser syndrome - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Mayer-Rokitansky-K�ster-Hauser syndrome' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'clinical subtype' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'clinical subtype' + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mayer-Rokitansky-K�ster-Hauser syndrome' + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Atypical Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_247765 Label: X-linked cerebellar ataxia - 'X-linked cerebellar ataxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked cerebellar ataxia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked cerebellar ataxia' SubClassOf 'group of disorders' + 'X-linked cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked cerebellar ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_653 Label: Multiple endocrine neoplasia type 2 - 'Multiple endocrine neoplasia type 2' SubClassOf 'part_of' some 'Thyroid carcinoma' - 'Multiple endocrine neoplasia type 2' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Multiple endocrine neoplasia type 2' SubClassOf 'part_of' some 'Multiple endocrine neoplasia' - 'Multiple endocrine neoplasia type 2' SubClassOf 'part_of' some 'Intestinal tumor' - 'Multiple endocrine neoplasia type 2' SubClassOf 'disease' - 'Multiple endocrine neoplasia type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple endocrine neoplasia type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Multiple endocrine neoplasia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Multiple endocrine neoplasia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple endocrine neoplasia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple endocrine neoplasia' + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Multiple endocrine neoplasia type 2' SubClassOf 'disease' + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91378 Label: Hereditary angioedema - 'Hereditary angioedema' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary angioedema' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema' SubClassOf 'disease' - 'Hereditary angioedema' SubClassOf 'part_of' some 'Rare genetic disease' - 'Hereditary angioedema' SubClassOf 'part_of' some 'Non-histaminic angioedema' - 'Hereditary angioedema' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Hereditary angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary angioedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary angioedema' SubClassOf 'disease' + 'Hereditary angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary angioedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' + 'Hereditary angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary angioedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-histaminic angioedema' Class: http://www.orpha.net/ORDO/Orphanet_652 Label: Multiple endocrine neoplasia type 1 - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Rare parathyroid tumor' - 'Multiple endocrine neoplasia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Rare hyperparathyroidism' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Familial primary hyperparathyroidism' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Intestinal tumor' - 'Multiple endocrine neoplasia type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple endocrine neoplasia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Multiple endocrine neoplasia type 1' SubClassOf 'disease' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Multiple endocrine neoplasia' - 'Multiple endocrine neoplasia type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Genetic hyperparathyroidism' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid tumor' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hyperparathyroidism' + 'Multiple endocrine neoplasia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple endocrine neoplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple endocrine neoplasia' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperparathyroidism' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Multiple endocrine neoplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple endocrine neoplasia type 1' SubClassOf 'disease' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Multiple endocrine neoplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_247762 Label: Lipoblastoma - 'Lipoblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Lipoblastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Lipoblastoma' SubClassOf 'disease' - 'Lipoblastoma' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Lipoblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Lipoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lipoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lipoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Lipoblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_650 Label: LCAT deficiency - 'LCAT deficiency' SubClassOf 'disease' - 'LCAT deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'LCAT deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LCAT deficiency' SubClassOf 'part_of' some 'Hypoalphalipoproteinemia' - 'LCAT deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'LCAT deficiency' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'LCAT deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' + 'LCAT deficiency' SubClassOf 'disease' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoalphalipoproteinemia' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'LCAT deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LCAT deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LCAT deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_657 Label: Congenital isolated hyperinsulinism - 'Congenital isolated hyperinsulinism' SubClassOf 'group of disorders' + 'Congenital isolated hyperinsulinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital isolated hyperinsulinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital isolated hyperinsulinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital isolated hyperinsulinism' SubClassOf 'group of disorders' + 'Congenital isolated hyperinsulinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital isolated hyperinsulinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital isolated hyperinsulinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital isolated hyperinsulinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_97249 Label: Pontocerebellar hypoplasia type 3 - 'Pontocerebellar hypoplasia type 3' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pontocerebellar hypoplasia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 3' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_656 Label: Familial idiopathic steroid-resistant nephrotic syndrome - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'disease' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Idiopathic nephrotic syndrome' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic nephrotic syndrome' + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'disease' + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_317674 Label: colony stimulating factor 1 receptor - 'colony stimulating factor 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' - 'colony stimulating factor 1 receptor' SubClassOf 'gene' + 'colony stimulating factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' + 'colony stimulating factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'colony stimulating factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119624 Label: ALG6, alpha-1,3-glucosyltransferase - 'ALG6, alpha-1,3-glucosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG6-CDG' - 'ALG6, alpha-1,3-glucosyltransferase' SubClassOf 'gene' + 'ALG6, alpha-1,3-glucosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG6-CDG' + 'ALG6, alpha-1,3-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG6, alpha-1,3-glucosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_655 Label: Autosomal recessive medullary cystic kidney disease - 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'disease' - 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Familial cystic renal disease' + 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'disease' + 'Autosomal recessive medullary cystic kidney disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Autosomal recessive medullary cystic kidney disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_654 Label: Nephroblastoma - 'Nephroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Nephroblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nephroblastoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Nephroblastoma' SubClassOf 'disease' - 'Nephroblastoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nephroblastoma' SubClassOf 'part_of' some 'Genetic renal tumor' + 'Nephroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nephroblastoma' SubClassOf 'disease' + 'Nephroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "3.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Nephroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Nephroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some 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http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurofibromatosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurofibromatosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Neurofibromatosis type 1' SubClassOf 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(http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_637 Label: Neurofibromatosis type 2 - 'Neurofibromatosis type 2' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Neurofibromatosis type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neurofibromatosis type 2' SubClassOf 'disease' - 'Neurofibromatosis type 2' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Neurofibromatosis type 2' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Neurofibromatosis type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Neurofibromatosis type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Neurofibromatosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Neurofibromatosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurofibromatosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 2' SubClassOf 'disease' + 'Neurofibromatosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurofibromatosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_638 Label: Neurofibromatosis-Noonan syndrome - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'malformation syndrome' - 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_639 Label: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Chronic acquired demyelinating polyneuropathy' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'disease' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'has_prevalence' some 'Unknown' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'disease' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic acquired demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_330683 Label: purinergic receptor P2X, ligand-gated ion channel, 2 - 'purinergic receptor P2X, ligand-gated ion channel, 2' SubClassOf 'gene' - 'purinergic receptor P2X, ligand-gated ion channel, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'purinergic receptor P2X, ligand-gated ion channel, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.33"^^http://www.w3.org/2001/XMLSchema#string + 'purinergic receptor P2X, ligand-gated ion channel, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'purinergic receptor P2X, ligand-gated ion channel, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120373 Label: ubiquitin protein ligase E3 component n-recognin 1 - 'ubiquitin protein ligase E3 component n-recognin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Johanson-Blizzard syndrome' - 'ubiquitin protein ligase E3 component n-recognin 1' SubClassOf 'gene' + 'ubiquitin protein ligase E3 component n-recognin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Johanson-Blizzard syndrome' + 'ubiquitin protein ligase E3 component n-recognin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin protein ligase E3 component n-recognin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_30924 Label: Primary hypomagnesemia with secondary hypocalcemia - 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with normocalcuria' - 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'disease' - 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'disease' + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with normocalcuria' Class: http://www.orpha.net/ORDO/Orphanet_268980 Label: Isolated focal cortical dysplasia type Ib - 'Isolated focal cortical dysplasia type Ib' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type Ib' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia type I' - 'Isolated focal cortical dysplasia type Ib' SubClassOf 'histopathological subtype' + 'Isolated focal cortical dysplasia type Ib' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia type I' + 'Isolated focal cortical dysplasia type Ib' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_30925 Label: Hereditary central diabetes insipidus - 'Hereditary central diabetes insipidus' SubClassOf 'part_of' some 'Pituitary deficiency' - 'Hereditary central diabetes insipidus' SubClassOf 'clinical subtype' - 'Hereditary central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary central diabetes insipidus' SubClassOf 'part_of' some 'Central diabetes insipidus' - 'Hereditary central diabetes insipidus' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Hereditary central diabetes insipidus' SubClassOf 'clinical subtype' + 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central diabetes insipidus' + 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary deficiency' + 'Hereditary central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_97261 Label: GRFoma - 'GRFoma' SubClassOf 'disease' - 'GRFoma' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' + 'GRFoma' SubClassOf 'disease' + 'GRFoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_268987 Label: Isolated focal cortical dysplasia type Ic - 'Isolated focal cortical dysplasia type Ic' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type Ic' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia type I' - 'Isolated focal cortical dysplasia type Ic' SubClassOf 'histopathological subtype' + 'Isolated focal cortical dysplasia type Ic' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia type I' + 'Isolated focal cortical dysplasia type Ic' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_120375 Label: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) - 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf 'gene' - 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' + 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p13"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' + 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)' SubClassOf 'Candidate gene tested in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_119618 Label: ALG3, alpha-1,3- mannosyltransferase - 'ALG3, alpha-1,3- mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG3-CDG' - 'ALG3, alpha-1,3- mannosyltransferase' SubClassOf 'gene' + 'ALG3, alpha-1,3- mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'ALG3, alpha-1,3- mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG3, alpha-1,3- mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_310043 Label: tectonic family member 3 - 'tectonic family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 4' - 'tectonic family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'tectonic family member 3' SubClassOf 'gene' + 'tectonic family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 4' + 'tectonic family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tectonic family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'tectonic family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_91364 Label: Non-specific interstitial pneumonia - 'Non-specific interstitial pneumonia' SubClassOf 'disease' - 'Non-specific interstitial pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' + 'Non-specific interstitial pneumonia' SubClassOf 'disease' + 'Non-specific interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_640 Label: Hereditary neuropathy with liability to pressure palsies - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'malformation syndrome' - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'malformation syndrome' + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_91365 Label: Secondary ciliary dyskinesia - 'Secondary ciliary dyskinesia' SubClassOf 'disease' - 'Secondary ciliary dyskinesia' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Secondary ciliary dyskinesia' SubClassOf 'disease' + 'Secondary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_642 Label: Hereditary sensory and autonomic neuropathy type 4 - 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119610 Label: ALG12, alpha-1,6-mannosyltransferase - 'ALG12, alpha-1,6-mannosyltransferase' SubClassOf 'gene' - 'ALG12, alpha-1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG12-CDG' + 'ALG12, alpha-1,6-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG12, alpha-1,6-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'ALG12, alpha-1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG12-CDG' Class: http://www.orpha.net/ORDO/Orphanet_247775 Label: Classic Mayer-Rokitansky-K�ster-Hauser syndrome - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Mayer-Rokitansky-K�ster-Hauser syndrome' - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'clinical subtype' - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mayer-Rokitansky-K�ster-Hauser syndrome' + 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_641 Label: Multifocal motor neuropathy with conduction block - 'Multifocal motor neuropathy with conduction block' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multifocal motor neuropathy with conduction block' SubClassOf 'part_of' some 'Chronic acquired demyelinating polyneuropathy' - 'Multifocal motor neuropathy with conduction block' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Multifocal motor neuropathy with conduction block' SubClassOf 'disease' + 'Multifocal motor neuropathy with conduction block' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Multifocal motor neuropathy with conduction block' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Multifocal motor neuropathy with conduction block' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Multifocal motor neuropathy with conduction block' SubClassOf 'disease' + 'Multifocal motor neuropathy with conduction block' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic acquired demyelinating polyneuropathy' + 'Multifocal motor neuropathy with conduction block' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_644 Label: NARP syndrome - 'NARP syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'NARP syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'NARP syndrome' SubClassOf 'disease' - 'NARP syndrome' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'NARP syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'NARP syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'NARP syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'NARP syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'NARP syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'NARP syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'NARP syndrome' SubClassOf 'disease' + 'NARP syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'NARP syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'NARP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_369806 Label: multiple C2 domains, transmembrane 2 - 'multiple C2 domains, transmembrane 2' SubClassOf 'gene' - 'multiple C2 domains, transmembrane 2' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 15q' + 'multiple C2 domains, transmembrane 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'multiple C2 domains, transmembrane 2' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 15q' + 'multiple C2 domains, transmembrane 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_643 Label: Giant axonal neuropathy - 'Giant axonal neuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Giant axonal neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Giant axonal neuropathy' SubClassOf 'disease' - 'Giant axonal neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Giant axonal neuropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Giant axonal neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Giant axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Giant axonal neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Giant axonal neuropathy' SubClassOf 'disease' + 'Giant axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_646 Label: Niemann-Pick disease type C - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Supranuclear oculomotor palsy' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Niemann-Pick disease type C' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Lipid storage disease' - 'Niemann-Pick disease type C' SubClassOf 'disease' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Niemann-Pick disease type C' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Niemann-Pick disease type C' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Supranuclear oculomotor palsy' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Niemann-Pick disease type C' SubClassOf 'disease' + 'Niemann-Pick disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.91"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' + 'Niemann-Pick disease type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Niemann-Pick disease type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_317684 Label: CTS telomere maintenance complex component 1 - 'CTS telomere maintenance complex component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'CTS telomere maintenance complex component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coats plus syndrome' - 'CTS telomere maintenance complex component 1' SubClassOf 'gene' + 'CTS telomere maintenance complex component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CTS telomere maintenance complex component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'CTS telomere maintenance complex component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coats plus syndrome' + 'CTS telomere maintenance complex component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119613 Label: ALG2, alpha-1,3/1,6-mannosyltransferase - 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG2-CDG' - 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf 'gene' - 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG2-CDG' + 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'ALG2, alpha-1,3/1,6-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_205928 Label: prenyl (decaprenyl) diphosphate synthase, subunit 2 - 'prenyl (decaprenyl) diphosphate synthase, subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' - 'prenyl (decaprenyl) diphosphate synthase, subunit 2' SubClassOf 'gene' + 'prenyl (decaprenyl) diphosphate synthase, subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' + 'prenyl (decaprenyl) diphosphate synthase, subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'prenyl (decaprenyl) diphosphate synthase, subunit 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120341 Label: tubby like protein 1 - 'tubby like protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'tubby like protein 1' SubClassOf 'gene' - 'tubby like protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'tubby like protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'tubby like protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'tubby like protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'tubby like protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_83001 Label: Urogenital tract malformation - 'Urogenital tract malformation' SubClassOf 'group of disorders' + 'Urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120345 Label: twist family bHLH transcription factor 1 - 'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated scaphocephaly' - 'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated brachycephaly' - 'twist family bHLH transcription factor 1' SubClassOf 'gene' - 'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saethre-Chotzen syndrome' + 'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated scaphocephaly' + 'twist family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21"^^http://www.w3.org/2001/XMLSchema#string + 'twist family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated brachycephaly' + 'twist family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Saethre-Chotzen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97231 Label: Ligneous conjunctivitis - 'Ligneous conjunctivitis' SubClassOf 'part_of' some 'Rare conjunctival disease' - 'Ligneous conjunctivitis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ligneous conjunctivitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ligneous conjunctivitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' - 'Ligneous conjunctivitis' SubClassOf 'disease' - 'Ligneous conjunctivitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ligneous conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare conjunctival disease' + 'Ligneous conjunctivitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ligneous conjunctivitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ligneous conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' + 'Ligneous conjunctivitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279753 Label: B9 protein domain 2 - 'B9 protein domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'B9 protein domain 2' SubClassOf 'gene' + 'B9 protein domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'B9 protein domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B9 protein domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97230 Label: Solar urticaria - 'Solar urticaria' SubClassOf 'has_inheritance' some 'sporadic' - 'Solar urticaria' SubClassOf 'disease' - 'Solar urticaria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Solar urticaria' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Solar urticaria' SubClassOf 'part_of' some 'Rare photodermatosis' + 'Solar urticaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Solar urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Solar urticaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Solar urticaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Solar urticaria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97232 Label: Fingerprint body myopathy - 'Fingerprint body myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fingerprint body myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Fingerprint body myopathy' SubClassOf 'disease' + 'Fingerprint body myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fingerprint body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Fingerprint body myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279756 Label: mannosidase, alpha, class 1B, member 1 - 'mannosidase, alpha, class 1B, member 1' SubClassOf 'gene' - 'mannosidase, alpha, class 1B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MAN1B1-CDG' - 'mannosidase, alpha, class 1B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'mannosidase, alpha, class 1B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannosidase, alpha, class 1B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MAN1B1-CDG' + 'mannosidase, alpha, class 1B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'mannosidase, alpha, class 1B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119680 Label: solute carrier family 4, sodium borate transporter, member 11 - 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'gene' - 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital hereditary endothelial dystrophy type II' - 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal dystrophy - perceptive deafness' - 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' + 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital hereditary endothelial dystrophy type II' + 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal dystrophy - perceptive deafness' + 'solute carrier family 4, sodium borate transporter, member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_371445 Label: Genetic syndromic esophageal malformation - 'Genetic syndromic esophageal malformation' SubClassOf 'group of disorders' + 'Genetic syndromic esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314394 Label: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'disease' - 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'disease' + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_97234 Label: Glycogen storage disease due to phosphoglycerate mutase deficiency - 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_669 Label: Otopalatodigital syndrome - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Otopalatodigital syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Otopalatodigital syndrome' SubClassOf 'malformation syndrome' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Frontootopalatodigital syndrome' - 'Otopalatodigital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontootopalatodigital syndrome' + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Otopalatodigital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Otopalatodigital syndrome' SubClassOf 'malformation syndrome' + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_330631 Label: beta-1,3-N-acetylgalactosaminyltransferase 2 - 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf 'gene' - 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.3"^^http://www.w3.org/2001/XMLSchema#string + 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Muscle-eye-brain disease' + 'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_371442 Label: Sphingolipidosis with epilepsy - 'Sphingolipidosis with epilepsy' SubClassOf 'group of disorders' + 'Sphingolipidosis with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_678 Label: Papillon-Lef�vre syndrome - 'Papillon-Lef�vre syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Papillon-Lef�vre syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Papillon-Lef�vre syndrome' SubClassOf 'disease' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Papillon-Lef�vre syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Papillon-Lef�vre syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal-related organelles' + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Papillon-Lef�vre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Papillon-Lef�vre syndrome' SubClassOf 'disease' + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Papillon-Lef�vre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Papillon-Lef�vre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Papillon-Lef�vre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Papillon-Lef�vre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_679 Label: Malignant atrophic papulosis - 'Malignant atrophic papulosis' SubClassOf 'part_of' some 'Genetic porokeratosis' - 'Malignant atrophic papulosis' SubClassOf 'disease' - 'Malignant atrophic papulosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Malignant atrophic papulosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Malignant atrophic papulosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malignant atrophic papulosis' SubClassOf 'part_of' some 'Porokeratosis' + 'Malignant atrophic papulosis' SubClassOf 'disease' + 'Malignant atrophic papulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant atrophic papulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porokeratosis' + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic porokeratosis' + 'Malignant atrophic papulosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_97229 Label: Riboflavin transporter deficiency - 'Riboflavin transporter deficiency' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Riboflavin transporter deficiency' SubClassOf 'malformation syndrome' - 'Riboflavin transporter deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Riboflavin transporter deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Riboflavin transporter deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Riboflavin transporter deficiency' SubClassOf 'part_of' some 'Bulbospinal muscular atrophy of children' + 'Riboflavin transporter deficiency' SubClassOf 'malformation syndrome' + 'Riboflavin transporter deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Riboflavin transporter deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bulbospinal muscular atrophy of children' + 'Riboflavin transporter deficiency' SubClassOf 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'Pancreatoblastoma' SubClassOf 'disease' + 'Pancreatoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_371436 Label: Genetic neurovascular malformation - 'Genetic neurovascular malformation' SubClassOf 'group of disorders' + 'Genetic neurovascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_674 Label: Accessory pancreas - 'Accessory pancreas' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Accessory pancreas' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Accessory pancreas' SubClassOf 'has_inheritance' some 'sporadic' - 'Accessory pancreas' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Accessory pancreas' SubClassOf 'morphological anomaly' + 'Accessory pancreas' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Accessory pancreas' SubClassOf 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"3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some 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(http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Annular pancreas' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_317699 Label: aconitase 2, mitochondrial - 'aconitase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile cerebellar-retinal degeneration' - 'aconitase 2, mitochondrial' SubClassOf 'gene' + 'aconitase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aconitase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile cerebellar-retinal degeneration' + 'aconitase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_672 Label: Pallister-Hall syndrome - 'Pallister-Hall syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pallister-Hall syndrome' SubClassOf 'malformation syndrome' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Pallister-Hall syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Pallister-Hall syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Pallister-Hall syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Pallister-Hall syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Pallister-Hall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pallister-Hall syndrome' SubClassOf 'malformation syndrome' + 'Pallister-Hall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Pallister-Hall syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Pallister-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pallister-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_371439 Label: Genetic cerebrovascular dementia - 'Genetic cerebrovascular dementia' SubClassOf 'group of disorders' + 'Genetic cerebrovascular dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314399 Label: Autosomal dominant aplasia and myelodysplasia - 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'disease' - 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'disease' + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_91397 Label: Isolated ankyloblepharon filiforme adnatum - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'part_of' some 'Eyelid border anomaly' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'morphological anomaly' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyelid border anomaly' + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'morphological anomaly' + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_673 Label: Malaria - 'Malaria' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Malaria' SubClassOf 'disease' - 'Malaria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malaria' SubClassOf 'has_inheritance' some 'sporadic' - 'Malaria' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Malaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Malaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Malaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Malaria' SubClassOf 'disease' + 'Malaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Malaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "73.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119685 Label: solute carrier family 4 (sodium bicarbonate cotransporter), member 4 - 'solute carrier family 4 (sodium bicarbonate cotransporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive proximal renal tubular acidosis' - 'solute carrier family 4 (sodium bicarbonate cotransporter), member 4' SubClassOf 'gene' + 'solute carrier family 4 (sodium bicarbonate cotransporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive proximal renal tubular acidosis' + 'solute carrier family 4 (sodium bicarbonate cotransporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 4 (sodium bicarbonate cotransporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_671 Label: Primary cutis verticis gyrata - 'Primary cutis verticis gyrata' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary cutis verticis gyrata' SubClassOf 'group of disorders' - 'Primary cutis verticis gyrata' SubClassOf 'has_prevalence' some 'Unknown' + 'Primary cutis verticis gyrata' SubClassOf 'group of disorders' + 'Primary cutis verticis gyrata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_369852 Label: Recurrent infections-myelofibrosis-nephromegaly syndrome - 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'disease' - 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'disease' + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_352490 Label: Autism spectrum disorder due to AUTS2 deficiency - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'part_of' some 'Rare disease with autism' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'disease' - 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'disease' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238329 Label: Severe X-linked mitochondrial encephalomyopathy - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'disease' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120353 Label: tyrosinase - 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Minimal pigment oculocutaneous albinism type 1' - 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Temperature-sensitive oculocutaneous albinism type 1' - 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' - 'tyrosinase' SubClassOf 'gene' - 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 1A' - 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 1B' + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Minimal pigment oculocutaneous albinism type 1' + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculocutaneous albinism type 1A' + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculocutaneous albinism type 1B' + 'tyrosinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Temperature-sensitive oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_247709 Label: Multiple endocrine neoplasia type 2B - 'Multiple endocrine neoplasia type 2B' SubClassOf 'part_of' some 'Multiple endocrine neoplasia type 2' - 'Multiple endocrine neoplasia type 2B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple endocrine neoplasia type 2B' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiple endocrine neoplasia type 2B' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Multiple endocrine neoplasia type 2B' SubClassOf 'clinical subtype' - 'Multiple endocrine neoplasia type 2B' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Multiple endocrine neoplasia type 2B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' + 'Multiple endocrine neoplasia type 2B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple endocrine neoplasia type 2' + 'Multiple endocrine neoplasia type 2B' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_97240 Label: Zebra body myopathy - 'Zebra body myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zebra body myopathy' SubClassOf 'disease' - 'Zebra body myopathy' SubClassOf 'part_of' some 'Congenital myopathy' + 'Zebra body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Zebra body myopathy' SubClassOf 'disease' + 'Zebra body myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120356 Label: TYRO protein tyrosine kinase binding protein - 'TYRO protein tyrosine kinase binding protein' SubClassOf 'gene' - 'TYRO protein tyrosine kinase binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nasu-Hakola disease' + 'TYRO protein tyrosine kinase binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Nasu-Hakola disease' + 'TYRO protein tyrosine kinase binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TYRO protein tyrosine kinase binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_205934 Label: mitochondrially encoded tRNA proline - 'mitochondrially encoded tRNA proline' SubClassOf 'gene' - 'mitochondrially encoded tRNA proline' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA proline' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA proline' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA proline' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_268920 Label: Isolated megalencephaly - 'Isolated megalencephaly' SubClassOf 'clinical subtype' - 'Isolated megalencephaly' SubClassOf 'part_of' some 'Megalencephaly' - 'Isolated megalencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated megalencephaly' SubClassOf 'clinical subtype' + 'Isolated megalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Megalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_205932 Label: Sec23 homolog B (S. cerevisiae) - 'Sec23 homolog B (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type II' - 'Sec23 homolog B (S. cerevisiae)' SubClassOf 'gene' + 'Sec23 homolog B (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type II' + 'Sec23 homolog B (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'Sec23 homolog B (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97244 Label: Rigid spine syndrome - 'Rigid spine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rigid spine syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Rigid spine syndrome' SubClassOf 'disease' - 'Rigid spine syndrome' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Rigid spine syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of selenoprotein N1' + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of selenoprotein N1' + 'Rigid spine syndrome' SubClassOf 'disease' + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Rigid spine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rigid spine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_97242 Label: Congenital muscular dystrophy - 'Congenital muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Congenital muscular dystrophy' SubClassOf 'group of disorders' - 'Congenital muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Congenital muscular dystrophy' SubClassOf 'group of disorders' + 'Congenital muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_91396 Label: Isolated cryptophthalmia - 'Isolated cryptophthalmia' SubClassOf 'morphological anomaly' - 'Isolated cryptophthalmia' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Isolated cryptophthalmia' SubClassOf 'part_of' some 'Cryptophthalmia' - 'Isolated cryptophthalmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated cryptophthalmia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated cryptophthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Isolated cryptophthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated cryptophthalmia' SubClassOf 'morphological anomaly' + 'Isolated cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Isolated cryptophthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated cryptophthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated cryptophthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_659 Label: Mutilating palmoplantar keratoderma with periorificial keratotic plaques - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some 'sporadic' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'part_of' some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'disease' + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314381 Label: Hereditary sensory and autonomic neuropathy type 6 - 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_658 Label: Non-histaminic angioedema - 'Non-histaminic angioedema' SubClassOf 'group of disorders' + 'Non-histaminic angioedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Non-histaminic angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-histaminic angioedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Non-histaminic angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Non-histaminic angioedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371433 Label: Genetic periodic paralysis - 'Genetic periodic paralysis' SubClassOf 'group of disorders' + 'Genetic periodic paralysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_97245 Label: Congenital myopathy - 'Congenital myopathy' SubClassOf 'group of disorders' + 'Congenital myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231637 Label: Rare surgically correctable form of primary aldosteronism - 'Rare surgically correctable form of primary aldosteronism' SubClassOf 'group of disorders' + 'Rare surgically correctable form of primary aldosteronism' SubClassOf 'group of disorders' + 'Rare surgically correctable form of primary aldosteronism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rare surgically correctable form of primary aldosteronism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_665 Label: Albright hereditary osteodystrophy - 'Albright hereditary osteodystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'Albright hereditary osteodystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Albright hereditary osteodystrophy' SubClassOf 'disease' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Syndromic obesity' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Albright hereditary osteodystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Albright hereditary osteodystrophy' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Albright hereditary osteodystrophy' SubClassOf 'disease' + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoparathyroidism' + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Albright hereditary osteodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Albright hereditary osteodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Albright hereditary osteodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Albright hereditary osteodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_666 Label: Osteogenesis imperfecta - 'Osteogenesis imperfecta' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Osteogenesis imperfecta' SubClassOf 'disease' - 'Osteogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Osteogenesis imperfecta' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' + 'Osteogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta' SubClassOf 'disease' + 'Osteogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_352487 Label: Digital anomalies - intellectual disability - short stature - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'disease' - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Digital anomalies - intellectual disability - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Digital anomalies - intellectual disability - short stature' SubClassOf 'disease' + 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Digital anomalies - intellectual disability - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Digital anomalies - intellectual disability - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Digital anomalies - intellectual disability - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_97238 Label: Rippling muscle disease - 'Rippling muscle disease' SubClassOf 'part_of' some 'Qualitative or quantitative defects of caveolin-3' - 'Rippling muscle disease' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Rippling muscle disease' SubClassOf 'disease' + 'Rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of caveolin-3' + 'Rippling muscle disease' SubClassOf 'disease' + 'Rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_667 Label: Autosomal recessive malignant osteopetrosis - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'malformation syndrome' - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive malignant osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive malignant osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Autosomal recessive malignant osteopetrosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive malignant osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Autosomal recessive malignant osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal recessive malignant osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_97239 Label: Reducing body myopathy - 'Reducing body myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reducing body myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Reducing body myopathy' SubClassOf 'disease' - 'Reducing body myopathy' SubClassOf 'part_of' some 'Congenital myopathy' + 'Reducing body myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Reducing body myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reducing body myopathy' SubClassOf 'disease' + 'Reducing body myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Reducing body myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_668 Label: Osteosarcoma - 'Osteosarcoma' SubClassOf 'part_of' some 'Bone sarcoma' - 'Osteosarcoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Osteosarcoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Osteosarcoma' SubClassOf 'disease' + 'Osteosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Osteosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Osteosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "3.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteosarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91387 Label: Familial thoracic aortic aneurysm and aortic dissection - 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'malformation syndrome' - 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'disease' + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_661 Label: Ondine syndrome - 'Ondine syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Ondine syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Ondine syndrome' SubClassOf 'disease' - 'Ondine syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ondine syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Ondine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ondine syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' + 'Ondine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Ondine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ondine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ondine syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ondine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ondine syndrome' SubClassOf 'disease' + 'Ondine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ondine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_371428 Label: Multicentric osteolysis-nodulosis-arthropathy spectrum - 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'disease' - 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'part_of' some 'Primary osteolysis' + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'disease' + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_369867 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'part_of' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_662 Label: Yellow nail syndrome - 'Yellow nail syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Yellow nail syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Yellow nail syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Yellow nail syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Yellow nail syndrome' SubClassOf 'disease' - 'Yellow nail syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Yellow nail syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Yellow nail syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Yellow nail syndrome' SubClassOf 'disease' + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_314389 Label: Xq12-q13.3 duplication syndrome - 'Xq12-q13.3 duplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X' - 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xq12-q13.3 duplication syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Xq12-q13.3 duplication syndrome' SubClassOf 'malformation syndrome' + 'Xq12-q13.3 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome X' + 'Xq12-q13.3 duplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Xq12-q13.3 duplication syndrome' SubClassOf 'malformation syndrome' + 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Xq12-q13.3 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Xq12-q13.3 duplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_231641 Label: Rare non surgically correctable form of primary aldosteronism - 'Rare non surgically correctable form of primary aldosteronism' SubClassOf 'group of disorders' + 'Rare non surgically correctable form of primary aldosteronism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare non surgically correctable form of primary aldosteronism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rare non surgically correctable form of primary aldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_663 Label: Maternally-inherited progressive external ophthalmoplegia - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_prevalence' some 'Unknown' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Ptosis' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disease' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disease' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_664 Label: Ornithine transcarbamylase deficiency - 'Ornithine transcarbamylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ornithine transcarbamylase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Ornithine transcarbamylase deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Ornithine transcarbamylase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ornithine transcarbamylase deficiency' SubClassOf 'disease' - 'Ornithine transcarbamylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ornithine transcarbamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.88"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf 'disease' + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Ornithine transcarbamylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Ornithine transcarbamylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_369861 Label: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'disease' - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'disease' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_358321 Label: STEAP family member 3, metalloreductase - 'STEAP family member 3, metalloreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital hypochromic anemia with ringed sideroblasts' - 'STEAP family member 3, metalloreductase' SubClassOf 'gene' + 'STEAP family member 3, metalloreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital hypochromic anemia with ringed sideroblasts' + 'STEAP family member 3, metalloreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'STEAP family member 3, metalloreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_660 Label: Omphalocele - 'Omphalocele' SubClassOf 'morphological anomaly' - 'Omphalocele' SubClassOf 'has_inheritance' some 'sporadic' - 'Omphalocele' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' - 'Omphalocele' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Omphalocele' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Omphalocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf 'morphological anomaly' + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Omphalocele' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120326 Label: titin - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary proximal myopathy with early respiratory failure' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2J' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset myopathy with fatal cardiomyopathy' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tibial muscular dystrophy' - 'titin' SubClassOf 'gene' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary proximal myopathy with early respiratory failure' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2J' + 'titin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset myopathy with fatal cardiomyopathy' + 'titin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31"^^http://www.w3.org/2001/XMLSchema#string + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'titin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tibial muscular dystrophy' + 'titin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_120323 Label: tetratricopeptide repeat domain 8 - 'tetratricopeptide repeat domain 8' SubClassOf 'gene' - 'tetratricopeptide repeat domain 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'tetratricopeptide repeat domain 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'tetratricopeptide repeat domain 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'tetratricopeptide repeat domain 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat domain 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetratricopeptide repeat domain 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_268936 Label: Isolated arhinencephaly - 'Isolated arhinencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated arhinencephaly' SubClassOf 'part_of' some 'Cerebral malformation' - 'Isolated arhinencephaly' SubClassOf 'morphological anomaly' + 'Isolated arhinencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' + 'Isolated arhinencephaly' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120320 Label: thyroid stimulating hormone receptor - 'thyroid stimulating hormone receptor' SubClassOf 'gene' - 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperthyroidism due to mutations in TSH receptor' - 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to TSH receptor mutations' - 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gestational hyperthyroidism' - 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperthyroidism due to mutations in TSH receptor' + 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to TSH receptor mutations' + 'thyroid stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24-q31"^^http://www.w3.org/2001/XMLSchema#string + 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'thyroid stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gestational hyperthyroidism' + 'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_247718 Label: Inflammatory myopathy with abundant macrophages - 'Inflammatory myopathy with abundant macrophages' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Inflammatory myopathy with abundant macrophages' SubClassOf 'disease' - 'Inflammatory myopathy with abundant macrophages' SubClassOf 'has_inheritance' some 'sporadic' + 'Inflammatory myopathy with abundant macrophages' SubClassOf 'disease' + 'Inflammatory myopathy with abundant macrophages' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Inflammatory myopathy with abundant macrophages' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_97214 Label: Eisenmenger syndrome - 'Eisenmenger syndrome' SubClassOf 'malformation syndrome' - 'Eisenmenger syndrome' SubClassOf 'part_of' some 'Pulmonary arterial hypertension associated with congenital heart disease' - 'Eisenmenger syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Eisenmenger syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Eisenmenger syndrome' SubClassOf 'malformation syndrome' + 'Eisenmenger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Eisenmenger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Eisenmenger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Eisenmenger syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Eisenmenger syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Eisenmenger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary arterial hypertension associated with congenital heart disease' Class: http://www.orpha.net/ORDO/Orphanet_370334 Label: Extraskeletal Ewing sarcoma - 'Extraskeletal Ewing sarcoma' SubClassOf 'disease' - 'Extraskeletal Ewing sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Extraskeletal Ewing sarcoma' SubClassOf 'disease' + 'Extraskeletal Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_119660 Label: anti-Mullerian hormone receptor, type II - 'anti-Mullerian hormone receptor, type II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent M�llerian duct syndrome' - 'anti-Mullerian hormone receptor, type II' SubClassOf 'gene' + 'anti-Mullerian hormone receptor, type II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent M�llerian duct syndrome' + 'anti-Mullerian hormone receptor, type II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'anti-Mullerian hormone receptor, type II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370330 Label: ER membrane-associated RNA degradation - 'ER membrane-associated RNA degradation' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' - 'ER membrane-associated RNA degradation' SubClassOf 'gene' - 'ER membrane-associated RNA degradation' SubClassOf 'Role in the phenotype of' some '6q terminal deletion syndrome' + 'ER membrane-associated RNA degradation' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ER membrane-associated RNA degradation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'ER membrane-associated RNA degradation' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' + 'ER membrane-associated RNA degradation' SubClassOf 'Role in the phenotype of' some '6q terminal deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213797 Label: Sarcoma of the cervix uteri - 'Sarcoma of the cervix uteri' SubClassOf 'group of disorders' + 'Sarcoma of the cervix uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119665 Label: solute carrier family 45, member 2 - 'solute carrier family 45, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 4' - 'solute carrier family 45, member 2' SubClassOf 'gene' + 'solute carrier family 45, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 45, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 45, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 4' Class: http://www.orpha.net/ORDO/Orphanet_119662 Label: Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 - 'Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' - 'Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1' SubClassOf 'gene' + 'Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' + 'Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3"^^http://www.w3.org/2001/XMLSchema#string + 'Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_369837 Label: Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119669 Label: solute carrier family 4 (anion exchanger), member 1 (Diego blood group) - 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'gene' - 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant distal renal tubular acidosis' - 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal renal tubular acidosis with anemia' - 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Southeast Asian ovalocytosis' + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant distal renal tubular acidosis' + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cryohydrocytosis with normal stomatin' + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal renal tubular acidosis with anemia' + 'solute carrier family 4 (anion exchanger), member 1 (Diego blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Southeast Asian ovalocytosis' Class: http://www.orpha.net/ORDO/Orphanet_231679 Label: Isolated growth hormone deficiency type II - 'Isolated growth hormone deficiency type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated growth hormone deficiency type II' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' - 'Isolated growth hormone deficiency type II' SubClassOf 'clinical subtype' - 'Isolated growth hormone deficiency type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Isolated growth hormone deficiency type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated growth hormone deficiency type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated growth hormone deficiency type II' SubClassOf 'clinical subtype' + 'Isolated growth hormone deficiency type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_699 Label: Pearson syndrome - 'Pearson syndrome' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'Pearson syndrome' SubClassOf 'disease' - 'Pearson syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Pearson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pearson syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' - 'Pearson syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Pearson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pearson syndrome' SubClassOf 'part_of' some 'Metabolic disease with intestinal involvement' - 'Pearson syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Pearson syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Pearson syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Pearson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Pearson syndrome' SubClassOf 'disease' + 'Pearson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Pearson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Pearson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pearson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with intestinal involvement' Class: http://www.orpha.net/ORDO/Orphanet_213792 Label: Adenosarcoma of the cervix uteri - 'Adenosarcoma of the cervix uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' - 'Adenosarcoma of the cervix uteri' SubClassOf 'disease' + 'Adenosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' + 'Adenosarcoma of the cervix uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268926 Label: Midline cerebral malformation - 'Midline cerebral malformation' SubClassOf 'group of disorders' + 'Midline cerebral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247724 Label: Idiopathic eosinophilic myositis - 'Idiopathic eosinophilic myositis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Idiopathic eosinophilic myositis' SubClassOf 'disease' - 'Idiopathic eosinophilic myositis' SubClassOf 'has_inheritance' some 'sporadic' + 'Idiopathic eosinophilic myositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic eosinophilic myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Idiopathic eosinophilic myositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_259373 Label: immunoglobulin-like domain containing receptor 1 - 'immunoglobulin-like domain containing receptor 1' SubClassOf 'gene' - 'immunoglobulin-like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'immunoglobulin-like domain containing receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin-like domain containing receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin-like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_231671 Label: Isolated growth hormone deficiency type IB - 'Isolated growth hormone deficiency type IB' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated growth hormone deficiency type IB' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' - 'Isolated growth hormone deficiency type IB' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated growth hormone deficiency type IB' SubClassOf 'clinical subtype' + 'Isolated growth hormone deficiency type IB' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated growth hormone deficiency type IB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type IB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated growth hormone deficiency type IB' SubClassOf 'clinical subtype' + 'Isolated growth hormone deficiency type IB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_268940 Label: Bilateral polymicrogyria - 'Bilateral polymicrogyria' SubClassOf 'morphological anomaly' - 'Bilateral polymicrogyria' SubClassOf 'part_of' some 'Polymicrogyria' - 'Bilateral polymicrogyria' SubClassOf 'has_prevalence' some 'Unknown' + 'Bilateral polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymicrogyria' + 'Bilateral polymicrogyria' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120334 Label: tocopherol (alpha) transfer protein - 'tocopherol (alpha) transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia with vitamin E deficiency' - 'tocopherol (alpha) transfer protein' SubClassOf 'gene' + 'tocopherol (alpha) transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tocopherol (alpha) transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'tocopherol (alpha) transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia with vitamin E deficiency' Class: http://www.orpha.net/ORDO/Orphanet_259361 Label: dehydrodolichyl diphosphate synthase - 'dehydrodolichyl diphosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'dehydrodolichyl diphosphate synthase' SubClassOf 'gene' + 'dehydrodolichyl diphosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'dehydrodolichyl diphosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35.3"^^http://www.w3.org/2001/XMLSchema#string + 'dehydrodolichyl diphosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120337 Label: transthyretin - 'transthyretin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloid polyneuropathy' - 'transthyretin' SubClassOf 'gene' - 'transthyretin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transthyretin-related familial amyloid cardiomyopathy' + 'transthyretin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloid polyneuropathy' + 'transthyretin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'transthyretin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transthyretin-related familial amyloid cardiomyopathy' + 'transthyretin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_208600 Label: Papillary fibroelastoma of the heart - 'Papillary fibroelastoma of the heart' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Papillary fibroelastoma of the heart' SubClassOf 'disease' + 'Papillary fibroelastoma of the heart' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Papillary fibroelastoma of the heart' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268943 Label: Unilateral polymicrogyria - 'Unilateral polymicrogyria' SubClassOf 'morphological anomaly' - 'Unilateral polymicrogyria' SubClassOf 'part_of' some 'Polymicrogyria' - 'Unilateral polymicrogyria' SubClassOf 'has_prevalence' some 'Unknown' + 'Unilateral polymicrogyria' SubClassOf 'morphological anomaly' + 'Unilateral polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_268947 Label: Unilateral focal polymicrogyria - 'Unilateral focal polymicrogyria' SubClassOf 'part_of' some 'Unilateral polymicrogyria' - 'Unilateral focal polymicrogyria' SubClassOf 'clinical subtype' - 'Unilateral focal polymicrogyria' SubClassOf 'has_prevalence' some 'Unknown' + 'Unilateral focal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral polymicrogyria' + 'Unilateral focal polymicrogyria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_52503 Label: X-linked creatine transporter deficiency - 'X-linked creatine transporter deficiency' SubClassOf 'part_of' some 'Disorder of creatine biosynthesis' - 'X-linked creatine transporter deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked creatine transporter deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked creatine transporter deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked creatine transporter deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'X-linked creatine transporter deficiency' SubClassOf 'disease' - 'X-linked creatine transporter deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'X-linked creatine transporter deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of creatine biosynthesis' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked creatine transporter deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'X-linked creatine transporter deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked creatine transporter deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked creatine transporter deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_683 Label: Progressive supranuclear palsy - 'Progressive supranuclear palsy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Progressive supranuclear palsy' SubClassOf 'part_of' some 'Frontotemporal degeneration with dementia' - 'Progressive supranuclear palsy' SubClassOf 'part_of' some 'Genetic frontotemporal degeneration with dementia' - 'Progressive supranuclear palsy' SubClassOf 'part_of' some 'Supranuclear oculomotor palsy' - 'Progressive supranuclear palsy' SubClassOf 'disease' - 'Progressive supranuclear palsy' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic frontotemporal degeneration with dementia' + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf 'disease' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Supranuclear oculomotor palsy' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal degeneration with dementia' + 'Progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410079) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_684 Label: Paramyotonia congenita of Von Eulenburg - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'part_of' some 'Myotonic syndrome' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_prevalence' some 'Unknown' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'disease' + 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myotonic syndrome' + 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_685 Label: Hereditary spastic paraplegia - 'Hereditary spastic paraplegia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hereditary spastic paraplegia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary spastic paraplegia' SubClassOf 'group of disorders' - 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Hereditary spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary spastic paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hereditary spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119653 Label: amelogenin, X-linked - 'amelogenin, X-linked' SubClassOf 'gene' - 'amelogenin, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'amelogenin, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.31-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'amelogenin, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amelogenin, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_231662 Label: Isolated growth hormone deficiency type IA - 'Isolated growth hormone deficiency type IA' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' - 'Isolated growth hormone deficiency type IA' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated growth hormone deficiency type IA' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated growth hormone deficiency type IA' SubClassOf 'clinical subtype' + 'Isolated growth hormone deficiency type IA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type IA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated growth hormone deficiency type IA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated growth hormone deficiency type IA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated growth hormone deficiency type IA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_213787 Label: Malignant m�llerian mixed tumor of the cervix uteri - 'Malignant m�llerian mixed tumor of the cervix uteri' SubClassOf 'disease' - 'Malignant m�llerian mixed tumor of the cervix uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' + 'Malignant m�llerian mixed tumor of the cervix uteri' SubClassOf 'disease' + 'Malignant m�llerian mixed tumor of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_369847 Label: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'part_of' some 'Rare choreic movement disorder' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'disease' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'part_of' some 'Rare genetic movement disorder' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'disease' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic movement disorder' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare choreic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_119657 Label: anti-Mullerian hormone - 'anti-Mullerian hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent M�llerian duct syndrome' - 'anti-Mullerian hormone' SubClassOf 'gene' + 'anti-Mullerian hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anti-Mullerian hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent M�llerian duct syndrome' + 'anti-Mullerian hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_259368 Label: glutamine--fructose-6-phosphate transaminase 1 - 'glutamine--fructose-6-phosphate transaminase 1' SubClassOf 'gene' - 'glutamine--fructose-6-phosphate transaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'glutamine--fructose-6-phosphate transaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'glutamine--fructose-6-phosphate transaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'glutamine--fructose-6-phosphate transaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_681 Label: Hypokalemic periodic paralysis - 'Hypokalemic periodic paralysis' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Hypokalemic periodic paralysis' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Hypokalemic periodic paralysis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypokalemic periodic paralysis' SubClassOf 'disease' - 'Hypokalemic periodic paralysis' SubClassOf 'part_of' some 'Periodic paralysis' - 'Hypokalemic periodic paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypokalemic periodic paralysis' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Hypokalemic periodic paralysis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Hypokalemic periodic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypokalemic periodic paralysis' SubClassOf 'disease' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Hypokalemic periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Hypokalemic periodic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_213782 Label: Malignant mixed epithelial and mesenchymal tumor of the cervix uteri - 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' SubClassOf 'group of disorders' + 'Malignant mixed epithelial and mesenchymal tumor of the cervix uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_682 Label: Hyperkalemic periodic paralysis - 'Hyperkalemic periodic paralysis' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Hyperkalemic periodic paralysis' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Hyperkalemic periodic paralysis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyperkalemic periodic paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperkalemic periodic paralysis' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Hyperkalemic periodic paralysis' SubClassOf 'disease' - 'Hyperkalemic periodic paralysis' SubClassOf 'part_of' some 'Periodic paralysis' - 'Hyperkalemic periodic paralysis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hyperkalemic periodic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hyperkalemic periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperkalemic periodic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Hyperkalemic periodic paralysis' SubClassOf 'disease' + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_369840 Label: Autosomal recessive limb-girdle muscular dystrophy type 2S - 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_140922 Label: Autosomal recessive limb-girdle muscular dystrophy type 2J - 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'part_of' some 'Qualitative or quantitative defects of titin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of titin' Class: http://www.orpha.net/ORDO/Orphanet_180294 Label: spastic paraplegia 14 (autosomal recessive) - 'spastic paraplegia 14 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 14' - 'spastic paraplegia 14 (autosomal recessive)' SubClassOf 'gene' + 'spastic paraplegia 14 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 14' + 'spastic paraplegia 14 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27-q28"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 14 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_53351 Label: X-linked dystonia-parkinsonism - 'X-linked dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'X-linked dystonia-parkinsonism' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'X-linked dystonia-parkinsonism' SubClassOf 'disease' - 'X-linked dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'sporadic' - 'X-linked dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'X-linked dystonia-parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'X-linked dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked dystonia-parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked dystonia-parkinsonism' SubClassOf 'disease' + 'X-linked dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'X-linked dystonia-parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410166) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'X-linked dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_247165 Label: Infantile mercury poisoning - 'Infantile mercury poisoning' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Infantile mercury poisoning' SubClassOf 'disease' - 'Infantile mercury poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile mercury poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Infantile mercury poisoning' SubClassOf 'part_of' some 'Rare intoxication' + 'Infantile mercury poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Infantile mercury poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile mercury poisoning' SubClassOf 'disease' + 'Infantile mercury poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_137917 Label: Choanal atresia, unilateral - 'Choanal atresia, unilateral' SubClassOf 'part_of' some 'Choanal atresia' - 'Choanal atresia, unilateral' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Choanal atresia, unilateral' SubClassOf 'clinical subtype' - 'Choanal atresia, unilateral' SubClassOf 'has_inheritance' some 'sporadic' - 'Choanal atresia, unilateral' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Choanal atresia, unilateral' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Choanal atresia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choanal atresia' + 'Choanal atresia, unilateral' SubClassOf 'clinical subtype' + 'Choanal atresia, unilateral' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choanal atresia, unilateral' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Choanal atresia, unilateral' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Choanal atresia, unilateral' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_261629 Label: Alagille syndrome due to a NOTCH2 point mutation - 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'etiological subtype' - 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'part_of' some 'Alagille syndrome' + 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alagille syndrome' + 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_140927 Label: Benign familial neonatal-infantile seizures - 'Benign familial neonatal-infantile seizures' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Benign familial neonatal-infantile seizures' SubClassOf 'part_of' some 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' - 'Benign familial neonatal-infantile seizures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Benign familial neonatal-infantile seizures' SubClassOf 'disease' - 'Benign familial neonatal-infantile seizures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign familial neonatal-infantile seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Benign familial neonatal-infantile seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Benign familial neonatal-infantile seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' + 'Benign familial neonatal-infantile seizures' SubClassOf 'disease' + 'Benign familial neonatal-infantile seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign familial neonatal-infantile seizures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_137920 Label: Choanal atresia, bilateral - 'Choanal atresia, bilateral' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Choanal atresia, bilateral' SubClassOf 'part_of' some 'Choanal atresia' - 'Choanal atresia, bilateral' SubClassOf 'clinical subtype' - 'Choanal atresia, bilateral' SubClassOf 'has_inheritance' some 'sporadic' - 'Choanal atresia, bilateral' SubClassOf 'has_prevalence' some 'Unknown' + 'Choanal atresia, bilateral' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Choanal atresia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choanal atresia' + 'Choanal atresia, bilateral' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choanal atresia, bilateral' SubClassOf 'clinical subtype' + 'Choanal atresia, bilateral' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_137926 Label: Primary laryngeal lymphangioma - 'Primary laryngeal lymphangioma' SubClassOf 'malformation syndrome' - 'Primary laryngeal lymphangioma' SubClassOf 'part_of' some 'Larynx anomaly' + 'Primary laryngeal lymphangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Primary laryngeal lymphangioma' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137923 Label: Cervicofacial lymphatic malformation - 'Cervicofacial lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervicofacial lymphatic malformation' SubClassOf 'malformation syndrome' - 'Cervicofacial lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervicofacial lymphatic malformation' SubClassOf 'part_of' some 'Lymphatic malformation' - 'Cervicofacial lymphatic malformation' SubClassOf 'part_of' some 'Rare head and neck malformation' + 'Cervicofacial lymphatic malformation' SubClassOf 'malformation syndrome' + 'Cervicofacial lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cervicofacial lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervicofacial lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare head and neck malformation' + 'Cervicofacial lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervicofacial lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_98464 Label: X-linked syndromic intellectual disability - 'X-linked syndromic intellectual disability' SubClassOf 'group of disorders' + 'X-linked syndromic intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3304 Label: Fallot complex - intellectual disability - growth delay - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'malformation syndrome' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fallot complex - intellectual disability - growth delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fallot complex - intellectual disability - growth delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fallot complex - intellectual disability - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fallot complex - intellectual disability - growth delay' SubClassOf 'malformation syndrome' + 'Fallot complex - intellectual disability - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fallot complex - intellectual disability - growth delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fallot complex - intellectual disability - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3303 Label: Tetralogy of Fallot - 'Tetralogy of Fallot' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tetralogy of Fallot' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Tetralogy of Fallot' SubClassOf 'malformation syndrome' - 'Tetralogy of Fallot' SubClassOf 'part_of' some 'Conotruncal heart malformations' - 'Tetralogy of Fallot' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetralogy of Fallot' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "34.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some 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(http://www.orpha.net/ORDO/Orphanet_C029 value "63.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "34.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf 'malformation syndrome' + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetralogy of Fallot' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3301 Label: Tetraamelia - multiple malformations - 'Tetraamelia - multiple malformations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetraamelia - multiple malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Tetraamelia - multiple malformations' SubClassOf 'has_prevalence' some 'Unknown' - 'Tetraamelia - multiple malformations' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Tetraamelia - multiple malformations' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Tetraamelia - multiple malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Tetraamelia - multiple malformations' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tetraamelia - multiple malformations' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Tetraamelia - multiple malformations' SubClassOf 'malformation syndrome' + 'Tetraamelia - multiple malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Tetraamelia - multiple malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tetraamelia - multiple malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Tetraamelia - multiple malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Tetraamelia - multiple malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetraamelia - multiple malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Tetraamelia - multiple malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Tetraamelia - multiple malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tetraamelia - multiple malformations' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3307 Label: Tetrasomy 18p - 'Tetrasomy 18p' SubClassOf 'malformation syndrome' - 'Tetrasomy 18p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetrasomy 18p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' - 'Tetrasomy 18p' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Tetrasomy 18p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetrasomy 18p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Tetrasomy 18p' SubClassOf 'malformation syndrome' + 'Tetrasomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' + 'Tetrasomy 18p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_3306 Label: Duplication/inversion 15q11 - 'Duplication/inversion 15q11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Duplication/inversion 15q11' SubClassOf 'part_of' some 'Rare disease with autism' - 'Duplication/inversion 15q11' SubClassOf 'has_inheritance' some 'sporadic' - 'Duplication/inversion 15q11' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' - 'Duplication/inversion 15q11' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Duplication/inversion 15q11' SubClassOf 'malformation syndrome' + 'Duplication/inversion 15q11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Duplication/inversion 15q11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Duplication/inversion 15q11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Duplication/inversion 15q11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' + 'Duplication/inversion 15q11' SubClassOf 'malformation syndrome' + 'Duplication/inversion 15q11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Duplication/inversion 15q11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_308013 Label: Focal acral hyperkeratosis - 'Focal acral hyperkeratosis' SubClassOf 'part_of' some 'Marginal papular palmoplantar keratoderma' - 'Focal acral hyperkeratosis' SubClassOf 'disease' + 'Focal acral hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal papular palmoplantar keratoderma' + 'Focal acral hyperkeratosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3305 Label: Tetraploidy - 'Tetraploidy' SubClassOf 'part_of' some 'Polyploidy' - 'Tetraploidy' SubClassOf 'malformation syndrome' + 'Tetraploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyploidy' + 'Tetraploidy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280811 Label: Extralobar congenital pulmonary sequestration - 'Extralobar congenital pulmonary sequestration' SubClassOf 'part_of' some 'Congenital pulmonary sequestration' - 'Extralobar congenital pulmonary sequestration' SubClassOf 'clinical subtype' + 'Extralobar congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary sequestration' + 'Extralobar congenital pulmonary sequestration' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3309 Label: Tetrasomy 5p - 'Tetrasomy 5p' SubClassOf 'malformation syndrome' - 'Tetrasomy 5p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' + 'Tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' + 'Tetrasomy 5p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261619 Label: Alagille syndrome due to a JAG1 point mutation - 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'part_of' some 'Alagille syndrome' - 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'etiological subtype' + 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'etiological subtype' + 'Alagille syndrome due to a JAG1 point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alagille syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137905 Label: Syndromic optic nerve hypoplasia - 'Syndromic optic nerve hypoplasia' SubClassOf 'group of disorders' + 'Syndromic optic nerve hypoplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137908 Label: Hypotonia with lactic acidemia and hyperammonemia - 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'disease' + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180284 Label: Benign ductal tumor of breast - 'Benign ductal tumor of breast' SubClassOf 'part_of' some 'Rare breast tumor' - 'Benign ductal tumor of breast' SubClassOf 'disease' + 'Benign ductal tumor of breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare breast tumor' + 'Benign ductal tumor of breast' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140917 Label: Stapes ankylosis with broad thumbs and toes - 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'malformation syndrome' - 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Stapes ankylosis with broad thumbs and toes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Stapes ankylosis with broad thumbs and toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'malformation syndrome' + 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_137911 Label: Autism - facial port-wine stain - 'Autism - facial port-wine stain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autism - facial port-wine stain' SubClassOf 'part_of' some 'Rare disease with autism' - 'Autism - facial port-wine stain' SubClassOf 'malformation syndrome' - 'Autism - facial port-wine stain' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autism - facial port-wine stain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autism - facial port-wine stain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autism - facial port-wine stain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Autism - facial port-wine stain' SubClassOf 'malformation syndrome' + 'Autism - facial port-wine stain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_137914 Label: Choanal atresia - 'Choanal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Choanal atresia' SubClassOf 'has_inheritance' some 'sporadic' - 'Choanal atresia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Choanal atresia' SubClassOf 'morphological anomaly' - 'Choanal atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Choanal atresia' SubClassOf 'morphological anomaly' + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Choanal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3310 Label: Tetrasomy 9p - 'Tetrasomy 9p' SubClassOf 'malformation syndrome' - 'Tetrasomy 9p' SubClassOf 'part_of' some 'Partial trisomy of the short arm of chromosome 9' + 'Tetrasomy 9p' SubClassOf 'malformation syndrome' + 'Tetrasomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the short arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_98473 Label: Muscular dystrophy - 'Muscular dystrophy' SubClassOf 'group of disorders' + 'Muscular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98472 Label: Skeletal muscle disease - 'Skeletal muscle disease' SubClassOf 'group of disorders' + 'Skeletal muscle disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3312 Label: Thalidomide embryopathy - 'Thalidomide embryopathy' SubClassOf 'disease' - 'Thalidomide embryopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Thalidomide embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thalidomide embryopathy' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Thalidomide embryopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Thalidomide embryopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' + 'Thalidomide embryopathy' SubClassOf 'disease' + 'Thalidomide embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thalidomide embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Thalidomide embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Thalidomide embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thalidomide embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thalidomide embryopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3315 Label: Thiopurine S-methyltransferase deficiency - 'Thiopurine S-methyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Thiopurine S-methyltransferase deficiency' SubClassOf 'disease' + 'Thiopurine S-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Thiopurine S-methyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3314 Label: Thiemann disease, familial form - 'Thiemann disease, familial form' SubClassOf 'disease' - 'Thiemann disease, familial form' SubClassOf 'part_of' some 'Osteochondrosis of genetic origin' - 'Thiemann disease, familial form' SubClassOf 'part_of' some 'Osteochondrosis' + 'Thiemann disease, familial form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Thiemann disease, familial form' SubClassOf 'disease' + 'Thiemann disease, familial form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_3317 Label: Thoracolaryngopelvic dysplasia - 'Thoracolaryngopelvic dysplasia' SubClassOf 'malformation syndrome' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'part_of' some 'Short rib dysplasia' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'part_of' some 'Thoracic malformation' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thoracolaryngopelvic dysplasia' SubClassOf 'part_of' some 'Respiratory malformation' + 'Thoracolaryngopelvic dysplasia' SubClassOf 'malformation syndrome' + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib dysplasia' + 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Thoracolaryngopelvic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Thoracolaryngopelvic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_240266 Label: Systemic non-Langerhans cell histiocytosis - 'Systemic non-Langerhans cell histiocytosis' SubClassOf 'group of disorders' + 'Systemic non-Langerhans cell histiocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3316 Label: Thomas syndrome - 'Thomas syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Thomas syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thomas syndrome' SubClassOf 'malformation syndrome' - 'Thomas syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Thomas syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Thomas syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Thomas syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Thomas syndrome' SubClassOf 'malformation syndrome' + 'Thomas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thomas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_3319 Label: Congenital amegakaryocytic thrombocytopenia - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'disease' - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'has_prevalence' some 'No data available' - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'disease' + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3318 Label: Essential thrombocythemia - 'Essential thrombocythemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Essential thrombocythemia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Essential thrombocythemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Essential thrombocythemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Essential thrombocythemia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired platelet anomaly' - 'Essential thrombocythemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Essential thrombocythemia' SubClassOf 'disease' + 'Essential thrombocythemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Essential thrombocythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired platelet anomaly' + 'Essential thrombocythemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Essential thrombocythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Essential thrombocythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Essential thrombocythemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Essential thrombocythemia' SubClassOf 'disease' + 'Essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Essential thrombocythemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_280802 Label: Intralobar congenital pulmonary sequestration - 'Intralobar congenital pulmonary sequestration' SubClassOf 'part_of' some 'Congenital pulmonary sequestration' - 'Intralobar congenital pulmonary sequestration' SubClassOf 'clinical subtype' + 'Intralobar congenital pulmonary sequestration' SubClassOf 'clinical subtype' + 'Intralobar congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary sequestration' Class: http://www.orpha.net/ORDO/Orphanet_140941 Label: Short stature due to primary acid-labile subunit deficiency - 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'disease' - 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140944 Label: CLOVE syndrome - 'CLOVE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLOVE syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'CLOVE syndrome' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'CLOVE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CLOVE syndrome' SubClassOf 'malformation syndrome' - 'CLOVE syndrome' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'CLOVE syndrome' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'CLOVE syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CLOVE syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' + 'CLOVE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLOVE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'CLOVE syndrome' SubClassOf 'malformation syndrome' + 'CLOVE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'CLOVE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_261600 Label: Alagille syndrome due to 20p12 microdeletion - 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'part_of' some 'Alagille syndrome' - 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'etiological subtype' - 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 20' - 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'has_prevalence' some 'Unknown' + 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'etiological subtype' + 'Alagille syndrome due to 20p12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alagille syndrome' + 'Alagille syndrome due to 20p12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_247145 Label: isocitrate dehydrogenase 2 (NADP+), mitochondrial - 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' - 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'gene' - 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' - 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Protoplasmic astrocytoma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Anaplastic oligodendroglioma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Oligodendroglioma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Anaplastic astrocytoma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Oligoastrocytoma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Fibrillary astrocytoma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Gemistocytic astrocytoma' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'isocitrate dehydrogenase 2 (NADP+), mitochondrial' SubClassOf 'Modifying somatic mutation in' some 'Anaplastic oligoastrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_98486 Label: Metabolic myopathy - 'Metabolic myopathy' SubClassOf 'group of disorders' + 'Metabolic myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98482 Label: Idiopathic inflammatory myopathy - 'Idiopathic inflammatory myopathy' SubClassOf 'group of disorders' + 'Idiopathic inflammatory myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140933 Label: Linear atrophoderma of Moulin - 'Linear atrophoderma of Moulin' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Linear atrophoderma of Moulin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Linear atrophoderma of Moulin' SubClassOf 'part_of' some 'Dermis disorder' - 'Linear atrophoderma of Moulin' SubClassOf 'disease' - 'Linear atrophoderma of Moulin' SubClassOf 'part_of' some 'Genetic dermis disorder' + 'Linear atrophoderma of Moulin' SubClassOf 'disease' + 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Linear atrophoderma of Moulin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Linear atrophoderma of Moulin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_140936 Label: Lelis syndrome - 'Lelis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lelis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lelis syndrome' SubClassOf 'malformation syndrome' - 'Lelis syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Lelis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lelis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Lelis syndrome' SubClassOf 'malformation syndrome' + 'Lelis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_201152 Label: baculoviral IAP repeat containing 3 - 'baculoviral IAP repeat containing 3' SubClassOf 'gene' - 'baculoviral IAP repeat containing 3' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' + 'baculoviral IAP repeat containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'baculoviral IAP repeat containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22"^^http://www.w3.org/2001/XMLSchema#string + 'baculoviral IAP repeat containing 3' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_53347 Label: Brody myopathy - 'Brody myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brody myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Brody myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein SERCA1' - 'Brody myopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Brody myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Brody myopathy' SubClassOf 'disease' - 'Brody myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Brody myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' + 'Brody myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brody myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Brody myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brody myopathy' SubClassOf 'disease' + 'Brody myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein SERCA1' Class: http://www.orpha.net/ORDO/Orphanet_247155 Label: WD repeat containing planar cell polarity effector - 'WD repeat containing planar cell polarity effector' SubClassOf 'Modifying germline mutation in' some 'Meckel syndrome' - 'WD repeat containing planar cell polarity effector' SubClassOf 'gene' - 'WD repeat containing planar cell polarity effector' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'WD repeat containing planar cell polarity effector' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'WD repeat containing planar cell polarity effector' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p15"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat containing planar cell polarity effector' SubClassOf 'Candidate gene tested in' some 'Meckel syndrome' + 'WD repeat containing planar cell polarity effector' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137929 Label: Neonatal brainstem dysfunction - 'Neonatal brainstem dysfunction' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Neonatal brainstem dysfunction' SubClassOf 'disease' + 'Neonatal brainstem dysfunction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Neonatal brainstem dysfunction' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98497 Label: Genetic peripheral neuropathy - 'Genetic peripheral neuropathy' SubClassOf 'group of disorders' + 'Genetic peripheral neuropathy' SubClassOf 'group of disorders' + 'Genetic peripheral neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_137935 Label: Laryngotracheal angioma - 'Laryngotracheal angioma' SubClassOf 'part_of' some 'Giant infantile hemangioma' - 'Laryngotracheal angioma' SubClassOf 'part_of' some 'Larynx anomaly' - 'Laryngotracheal angioma' SubClassOf 'disease' + 'Laryngotracheal angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Giant infantile hemangioma' + 'Laryngotracheal angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Laryngotracheal angioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98496 Label: Rare peripheral neuropathy - 'Rare peripheral neuropathy' SubClassOf 'group of disorders' + 'Rare peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98495 Label: Genetic neuromuscular junction disease - 'Genetic neuromuscular junction disease' SubClassOf 'group of disorders' + 'Genetic neuromuscular junction disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_137932 Label: Congenital laryngeal palsy - 'Congenital laryngeal palsy' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Congenital laryngeal palsy' SubClassOf 'malformation syndrome' - 'Congenital laryngeal palsy' SubClassOf 'part_of' some 'Larynx anomaly' + 'Congenital laryngeal palsy' SubClassOf 'malformation syndrome' + 'Congenital laryngeal palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Congenital laryngeal palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98494 Label: Acquired neuromuscular junction disease - 'Acquired neuromuscular junction disease' SubClassOf 'group of disorders' + 'Acquired neuromuscular junction disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98491 Label: Neuromuscular junction disease - 'Neuromuscular junction disease' SubClassOf 'group of disorders' + 'Neuromuscular junction disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_71289 Label: Radio-ulnar synostosis - amegakaryocytic thrombocytopenia - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'malformation syndrome' - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'malformation syndrome' + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98415 Label: Vitamin B12- and folate-independent constitutional megaloblastic anemia - 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'group of disorders' + 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3347 Label: Mounier-K�hn syndrome - 'Mounier-K�hn syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Mounier-K�hn syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Mounier-K�hn syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Mounier-K�hn syndrome' SubClassOf 'clinical syndrome' - 'Mounier-K�hn syndrome' SubClassOf 'part_of' some 'Rare respiratory disease' + 'Mounier-K�hn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' + 'Mounier-K�hn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Mounier-K�hn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mounier-K�hn syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3348 Label: Tracheobronchopathia osteochondroplastica - 'Tracheobronchopathia osteochondroplastica' SubClassOf 'disease' - 'Tracheobronchopathia osteochondroplastica' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Tracheobronchopathia osteochondroplastica' SubClassOf 'has_prevalence' some 'Unknown' - 'Tracheobronchopathia osteochondroplastica' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Tracheobronchopathia osteochondroplastica' SubClassOf 'disease' + 'Tracheobronchopathia osteochondroplastica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tracheobronchopathia osteochondroplastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Tracheobronchopathia osteochondroplastica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_3346 Label: Tracheal agenesis - 'Tracheal agenesis' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Tracheal agenesis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tracheal agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tracheal agenesis' SubClassOf 'morphological anomaly' - 'Tracheal agenesis' SubClassOf 'part_of' some 'Respiratory malformation' - 'Tracheal agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tracheal agenesis' SubClassOf 'part_of' some 'Tracheal anomaly' + 'Tracheal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Tracheal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Tracheal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tracheal agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tracheal agenesis' SubClassOf 'morphological anomaly' + 'Tracheal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_71291 Label: Hereditary vascular retinopathy - 'Hereditary vascular retinopathy' SubClassOf 'part_of' some 'Retinal vasculopathy and cerebral leukodystrophy' - 'Hereditary vascular retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary vascular retinopathy' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Hereditary vascular retinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary vascular retinopathy' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Hereditary vascular retinopathy' SubClassOf 'disease' - 'Hereditary vascular retinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary vascular retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal vasculopathy and cerebral leukodystrophy' + 'Hereditary vascular retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Hereditary vascular retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary vascular retinopathy' SubClassOf 'disease' + 'Hereditary vascular retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Hereditary vascular retinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary vascular retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_71290 Label: Familial platelet syndrome with predisposition to acute myelogenous leukemia - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'disease' - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'part_of' some 'Dense granule disease' - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'disease' + 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dense granule disease' + 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280854 Label: Congenital pulmonary airway malformation type 4 - 'Congenital pulmonary airway malformation type 4' SubClassOf 'clinical subtype' - 'Congenital pulmonary airway malformation type 4' SubClassOf 'part_of' some 'Congenital pulmonary airway malformation' + 'Congenital pulmonary airway malformation type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary airway malformation' + 'Congenital pulmonary airway malformation type 4' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3343 Label: Toxocariasis - 'Toxocariasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Toxocariasis' SubClassOf 'disease' - 'Toxocariasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Toxocariasis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Toxocariasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Toxocariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxocariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Toxocariasis' SubClassOf 'disease' + 'Toxocariasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Toxocariasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3344 Label: Weismann-Netter syndrome - 'Weismann-Netter syndrome' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Weismann-Netter syndrome' SubClassOf 'malformation syndrome' + 'Weismann-Netter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Weismann-Netter syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262110 Label: Partial deletion of the long arm of chromosome 14 - 'Partial deletion of the long arm of chromosome 14' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 14' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3341 Label: Torticollis - keloids - cryptorchidism - renal dysplasia - 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'malformation syndrome' - 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'malformation syndrome' + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98421 Label: Red cell aplasia - 'Red cell aplasia' SubClassOf 'group of disorders' + 'Red cell aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3342 Label: Arterial tortuosity syndrome - 'Arterial tortuosity syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'Arterial tortuosity syndrome' SubClassOf 'malformation syndrome' - 'Arterial tortuosity syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arterial tortuosity syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arterial tortuosity syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Arterial tortuosity syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Arterial tortuosity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arterial tortuosity syndrome' SubClassOf 'malformation syndrome' + 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Arterial tortuosity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arterial tortuosity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_98429 Label: Rare coagulation disorder - 'Rare coagulation disorder' SubClassOf 'group of disorders' + 'Rare coagulation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98428 Label: Secondary polycythemia - 'Secondary polycythemia' SubClassOf 'group of disorders' + 'Secondary polycythemia' SubClassOf 'group of disorders' + 'Secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_262119 Label: Partial deletion of the long arm of chromosome 15 - 'Partial deletion of the long arm of chromosome 15' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 15' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98427 Label: Polycythemia - 'Polycythemia' SubClassOf 'group of disorders' + 'Polycythemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280840 Label: Congenital pulmonary airway malformation type 2 - 'Congenital pulmonary airway malformation type 2' SubClassOf 'part_of' some 'Congenital pulmonary airway malformation' - 'Congenital pulmonary airway malformation type 2' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary airway malformation' + 'Congenital pulmonary airway malformation type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3357 Label: Autosomal dominant trichoodontoonychodysplasia-syndactyly - 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'malformation syndrome' + 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'malformation syndrome' + 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_280847 Label: Congenital pulmonary airway malformation type 3 - 'Congenital pulmonary airway malformation type 3' SubClassOf 'part_of' some 'Congenital pulmonary airway malformation' - 'Congenital pulmonary airway malformation type 3' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 3' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_3350 Label: Tremor - nystagmus - duodenal ulcer - 'Tremor - nystagmus - duodenal ulcer' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Tremor - nystagmus - duodenal ulcer' SubClassOf 'disease' + 'Tremor - nystagmus - duodenal ulcer' SubClassOf 'disease' + 'Tremor - nystagmus - duodenal ulcer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_98434 Label: Hereditary combined deficiency of vitamin K-dependent clotting factors - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'part_of' some 'Congenital vitamin K-dependent coagulation factors deficiency' - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'disease' - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitamin K-dependent coagulation factors deficiency' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'disease' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3351 Label: Trichodental syndrome - 'Trichodental syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Trichodental syndrome' SubClassOf 'malformation syndrome' - 'Trichodental syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Trichodental syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichodental syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Trichodental syndrome' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' - 'Trichodental syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Trichodental syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichodental syndrome' SubClassOf 'malformation syndrome' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichodental syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Trichodental syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trichodental syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3352 Label: Tricho-dento-osseous syndrome - 'Tricho-dento-osseous syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Tricho-dento-osseous syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Tricho-dento-osseous syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tricho-dento-osseous syndrome' SubClassOf 'malformation syndrome' - 'Tricho-dento-osseous syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tricho-dento-osseous syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Tricho-dento-osseous syndrome' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' - 'Tricho-dento-osseous syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Tricho-dento-osseous syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Tricho-dento-osseous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Tricho-dento-osseous syndrome' SubClassOf 'malformation syndrome' + 'Tricho-dento-osseous syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Tricho-dento-osseous syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3353 Label: Trichodermodysplasia - dental alterations - 'Trichodermodysplasia - dental alterations' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Trichodermodysplasia - dental alterations' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Trichodermodysplasia - dental alterations' SubClassOf 'malformation syndrome' - 'Trichodermodysplasia - dental alterations' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichodermodysplasia - dental alterations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichodermodysplasia - dental alterations' SubClassOf 'malformation syndrome' + 'Trichodermodysplasia - dental alterations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichodermodysplasia - dental alterations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_3354 Label: Tricho-oculo-dermo-vertebral syndrome - 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'malformation syndrome' + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'malformation syndrome' + 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3355 Label: Trichoodontoonychial dysplasia - 'Trichoodontoonychial dysplasia' SubClassOf 'malformation syndrome' - 'Trichoodontoonychial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Trichoodontoonychial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichoodontoonychial dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Trichoodontoonychial dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Trichoodontoonychial dysplasia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Trichoodontoonychial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Trichoodontoonychial dysplasia' SubClassOf 'malformation syndrome' + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichoodontoonychial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trichoodontoonychial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trichoodontoonychial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichoodontoonychial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_140905 Label: Hyperlipidemia due to hepatic triglyceride lipase deficiency - 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'part_of' some 'Hyperalphalipoproteinemia' - 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'disease' + 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperalphalipoproteinemia' + 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201108 Label: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 - 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' - 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' - 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf 'gene' + 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' + 'glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_140908 Label: Brachydactyly type B2 - 'Brachydactyly type B2' SubClassOf 'malformation syndrome' - 'Brachydactyly type B2' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly type B2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type B2' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261647 Label: Okihiro syndrome due to a point mutation - 'Okihiro syndrome due to a point mutation' SubClassOf 'etiological subtype' - 'Okihiro syndrome due to a point mutation' SubClassOf 'part_of' some 'Okihiro syndrome' + 'Okihiro syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Okihiro syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Okihiro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364285 Label: ELMO/CED-12 domain containing 3 - 'ELMO/CED-12 domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'ELMO/CED-12 domain containing 3' SubClassOf 'gene' + 'ELMO/CED-12 domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ELMO/CED-12 domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'ELMO/CED-12 domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_71267 Label: Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'part_of' some 'Malformative syndrome with dentinogenesis imperfecta' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'malformation syndrome' - 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformative syndrome with dentinogenesis imperfecta' + 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_71269 Label: Benign exophthalmos syndrome - 'Benign exophthalmos syndrome' SubClassOf 'disease' - 'Benign exophthalmos syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Benign exophthalmos syndrome' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Benign exophthalmos syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Benign exophthalmos syndrome' SubClassOf 'disease' + 'Benign exophthalmos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Benign exophthalmos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign exophthalmos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_59298 Label: Schilder disease - 'Schilder disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Schilder disease' SubClassOf 'disease' - 'Schilder disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Schilder disease' SubClassOf 'part_of' some 'Multiple sclerosis variant' + 'Schilder disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Schilder disease' SubClassOf 'disease' + 'Schilder disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_201101 Label: iodotyrosine deiodinase - 'iodotyrosine deiodinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' - 'iodotyrosine deiodinase' SubClassOf 'gene' + 'iodotyrosine deiodinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'iodotyrosine deiodinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'iodotyrosine deiodinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3329 Label: Tibial aplasia - ectrodactyly - 'Tibial aplasia - ectrodactyly' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Tibial aplasia - ectrodactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Tibial aplasia - ectrodactyly' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Tibial aplasia - ectrodactyly' SubClassOf 'malformation syndrome' - 'Tibial aplasia - ectrodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tibial aplasia - ectrodactyly' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Tibial aplasia - ectrodactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Tibial aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Tibial aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tibial aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Tibial aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Tibial aplasia - ectrodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tibial aplasia - ectrodactyly' SubClassOf 'malformation syndrome' + 'Tibial aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Tibial aplasia - ectrodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tibial aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Tibial aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3327 Label: Thyrocerebrorenal syndrome - 'Thyrocerebrorenal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Thyrocerebrorenal syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Thyrocerebrorenal syndrome' SubClassOf 'malformation syndrome' - 'Thyrocerebrorenal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thyrocerebrorenal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Thyrocerebrorenal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thyrocerebrorenal syndrome' SubClassOf 'malformation syndrome' + 'Thyrocerebrorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thyrocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Thyrocerebrorenal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3328 Label: Absent tibia - polydactyly - arachnoid cyst - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'malformation syndrome' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'malformation syndrome' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_280832 Label: Congenital pulmonary airway malformation type 1 - 'Congenital pulmonary airway malformation type 1' SubClassOf 'part_of' some 'Congenital pulmonary airway malformation' - 'Congenital pulmonary airway malformation type 1' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary airway malformation' + 'Congenital pulmonary airway malformation type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3325 Label: Heparin-induced thrombocytopenia - 'Heparin-induced thrombocytopenia' SubClassOf 'disease' - 'Heparin-induced thrombocytopenia' SubClassOf 'has_prevalence' some 'Unknown' - 'Heparin-induced thrombocytopenia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Heparin-induced thrombocytopenia' SubClassOf 'has_inheritance' some 'sporadic' - 'Heparin-induced thrombocytopenia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Heparin-induced thrombocytopenia' SubClassOf 'disease' + 'Heparin-induced thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Heparin-induced thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Heparin-induced thrombocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3326 Label: Thymic-renal-anal-lung dysplasia - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'malformation syndrome' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thymic-renal-anal-lung dysplasia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Thymic-renal-anal-lung dysplasia' SubClassOf 'malformation syndrome' + 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Thymic-renal-anal-lung dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thymic-renal-anal-lung dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3323 Label: Thrombocytopenia - Robin sequence - 'Thrombocytopenia - Robin sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thrombocytopenia - Robin sequence' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Thrombocytopenia - Robin sequence' SubClassOf 'malformation syndrome' - 'Thrombocytopenia - Robin sequence' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Thrombocytopenia - Robin sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thrombocytopenia - Robin sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thrombocytopenia - Robin sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thrombocytopenia - Robin sequence' SubClassOf 'malformation syndrome' + 'Thrombocytopenia - Robin sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3324 Label: Familial thrombomodulin anomalies - 'Familial thrombomodulin anomalies' SubClassOf 'disease' - 'Familial thrombomodulin anomalies' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' + 'Familial thrombomodulin anomalies' SubClassOf 'disease' + 'Familial thrombomodulin anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_71275 Label: Rh deficiency syndrome - 'Rh deficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Rh deficiency syndrome' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Rh deficiency syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rh deficiency syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Rh deficiency syndrome' SubClassOf 'disease' + 'Rh deficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rh deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Rh deficiency syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_71274 Label: Disseminated peritoneal leiomyomatosis - 'Disseminated peritoneal leiomyomatosis' SubClassOf 'part_of' some 'Primary peritoneal tumor' - 'Disseminated peritoneal leiomyomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Disseminated peritoneal leiomyomatosis' SubClassOf 'disease' - 'Disseminated peritoneal leiomyomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Disseminated peritoneal leiomyomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Disseminated peritoneal leiomyomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Disseminated peritoneal leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary peritoneal tumor' + 'Disseminated peritoneal leiomyomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Disseminated peritoneal leiomyomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3322 Label: Hoyeraal-Hreidarsson syndrome - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hoyeraal-Hreidarsson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_71277 Label: Encephalopathy due to GLUT1 deficiency - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'part_of' some 'Glucose transport disorder' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'disease' + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'disease' + 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_137902 Label: Isolated optic nerve hypoplasia - 'Isolated optic nerve hypoplasia' SubClassOf 'disease' - 'Isolated optic nerve hypoplasia' SubClassOf 'part_of' some 'Optic neuropathy' + 'Isolated optic nerve hypoplasia' SubClassOf 'disease' + 'Isolated optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_71276 Label: Silent sinus syndrome - 'Silent sinus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Silent sinus syndrome' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'Silent sinus syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Silent sinus syndrome' SubClassOf 'disease' - 'Silent sinus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Silent sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Silent sinus syndrome' SubClassOf 'disease' + 'Silent sinus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silent sinus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Silent sinus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_3320 Label: Thrombocytopenia - absent radius - 'Thrombocytopenia - absent radius' SubClassOf 'has_prevalence' some 'Unknown' - 'Thrombocytopenia - absent radius' SubClassOf 'malformation syndrome' - 'Thrombocytopenia - absent radius' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Thrombocytopenia - absent radius' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Thrombocytopenia - absent radius' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thrombocytopenia - absent radius' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Thrombocytopenia - absent radius' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Thrombocytopenia - absent radius' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thrombocytopenia - absent radius' SubClassOf 'malformation syndrome' + 'Thrombocytopenia - absent radius' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thrombocytopenia - absent radius' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Thrombocytopenia - absent radius' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_71271 Label: Split hand - split foot - deafness - 'Split hand - split foot - deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Split hand - split foot - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Split hand - split foot - deafness' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Split hand - split foot - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Split hand - split foot - deafness' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Split hand - split foot - deafness' SubClassOf 'malformation syndrome' - 'Split hand - split foot - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Split hand - split foot - deafness' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Split hand - split foot - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Split hand - split foot - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Split hand - split foot - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Split hand - split foot - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Split hand - split foot - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Split hand - split foot - deafness' SubClassOf 'malformation syndrome' + 'Split hand - split foot - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Split hand - split foot - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Split hand - split foot - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_71270 Label: Auriculoocular anomalies - cleft lip - 'Auriculoocular anomalies - cleft lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Auriculoocular anomalies - cleft lip' SubClassOf 'malformation syndrome' - 'Auriculoocular anomalies - cleft lip' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Auriculoocular anomalies - cleft lip' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Auriculoocular anomalies - cleft lip' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Auriculoocular anomalies - cleft lip' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Auriculoocular anomalies - cleft lip' SubClassOf 'malformation syndrome' + 'Auriculoocular anomalies - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auriculoocular anomalies - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Auriculoocular anomalies - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Auriculoocular anomalies - cleft lip' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Auriculoocular anomalies - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Auriculoocular anomalies - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auriculoocular anomalies - cleft lip' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_261652 Label: Kleefstra syndrome due to a point mutation - 'Kleefstra syndrome due to a point mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kleefstra syndrome due to a point mutation' SubClassOf 'etiological subtype' - 'Kleefstra syndrome due to a point mutation' SubClassOf 'part_of' some 'Kleefstra syndrome' + 'Kleefstra syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kleefstra syndrome' + 'Kleefstra syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Kleefstra syndrome due to a point mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_71273 Label: Renal nutcracker syndrome - 'Renal nutcracker syndrome' SubClassOf 'disease' - 'Renal nutcracker syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal nutcracker syndrome' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Renal nutcracker syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Renal nutcracker syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Renal nutcracker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Renal nutcracker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Renal nutcracker syndrome' SubClassOf 'disease' + 'Renal nutcracker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Renal nutcracker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_71272 Label: Sandifer syndrome - 'Sandifer syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Sandifer syndrome' SubClassOf 'disease' - 'Sandifer syndrome' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Sandifer syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Sandifer syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sandifer syndrome' SubClassOf 'part_of' some 'Rare paroxysmal movement disorder' + 'Sandifer syndrome' SubClassOf 'disease' + 'Sandifer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sandifer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Sandifer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare paroxysmal movement disorder' + 'Sandifer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_71278 Label: Congenital brain dysgenesis due to glutamine synthetase deficiency - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'part_of' some 'Disorder of glutamine metabolism' - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disease' - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disease' + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glutamine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_201114 Label: myeloid differentiation primary response 88 - 'myeloid differentiation primary response 88' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic bacterial infections due to MyD88 deficiency' - 'myeloid differentiation primary response 88' SubClassOf 'gene' - 'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenstr�m macroglobulinemia' + 'myeloid differentiation primary response 88' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22"^^http://www.w3.org/2001/XMLSchema#string + 'myeloid differentiation primary response 88' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myeloid differentiation primary response 88' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic bacterial infections due to MyD88 deficiency' + 'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenstr�m macroglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_247198 Label: Progressive cerebello-cerebral atrophy - 'Progressive cerebello-cerebral atrophy' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive cerebello-cerebral atrophy' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive cerebello-cerebral atrophy' SubClassOf 'disease' + 'Progressive cerebello-cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Progressive cerebello-cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive cerebello-cerebral atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive cerebello-cerebral atrophy' SubClassOf 'disease' + 'Progressive cerebello-cerebral atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_261638 Label: Okihiro syndrome due to 20q13 microdeletion - 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'etiological subtype' - 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'has_prevalence' some 'Unknown' - 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'part_of' some 'Okihiro syndrome' - 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 20' + 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'etiological subtype' + 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Okihiro syndrome' + 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_71279 Label: CANOMAD syndrome - 'CANOMAD syndrome' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'CANOMAD syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CANOMAD syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'CANOMAD syndrome' SubClassOf 'disease' - 'CANOMAD syndrome' SubClassOf 'part_of' some 'Chronic acquired demyelinating polyneuropathy' - 'CANOMAD syndrome' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic acquired demyelinating polyneuropathy' + 'CANOMAD syndrome' SubClassOf 'disease' + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' + 'CANOMAD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' Class: http://www.orpha.net/ORDO/Orphanet_391799 Label: Rare genetic dystonia - 'Rare genetic dystonia' SubClassOf 'group of disorders' + 'Rare genetic dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_201112 Label: v-akt murine thymoma viral oncogene homolog 2 - 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' - 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf 'gene' - 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy due to AKT2 mutations' + 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' + 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy due to AKT2 mutations' + 'v-akt murine thymoma viral oncogene homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90970 Label: Primary lipodystrophy - 'Primary lipodystrophy' SubClassOf 'group of disorders' + 'Primary lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary lipodystrophy' SubClassOf 'group of disorders' + 'Primary lipodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_3338 Label: Toriello-Carey syndrome - 'Toriello-Carey syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Toriello-Carey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Toriello-Carey syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Toriello-Carey syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Toriello-Carey syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Toriello-Carey syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Toriello-Carey syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Toriello-Carey syndrome' SubClassOf 'malformation syndrome' - 'Toriello-Carey syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Toriello-Carey syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Toriello-Carey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Toriello-Carey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Toriello-Carey syndrome' SubClassOf 'malformation syndrome' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Toriello-Carey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3339 Label: Toriello-Lacassie-Droste syndrome - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'malformation syndrome' - 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Toriello-Lacassie-Droste syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Toriello-Lacassie-Droste syndrome' SubClassOf 'malformation syndrome' + 'Toriello-Lacassie-Droste syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Toriello-Lacassie-Droste syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_280821 Label: Communicating congenital bronchopulmonary-foregut malformation - 'Communicating congenital bronchopulmonary-foregut malformation' SubClassOf 'clinical subtype' - 'Communicating congenital bronchopulmonary-foregut malformation' SubClassOf 'part_of' some 'Congenital pulmonary sequestration' + 'Communicating congenital bronchopulmonary-foregut malformation' SubClassOf 'clinical subtype' + 'Communicating congenital bronchopulmonary-foregut malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary sequestration' Class: http://www.orpha.net/ORDO/Orphanet_3337 Label: Primary Fanconi syndrome - 'Primary Fanconi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary Fanconi syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary Fanconi syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Primary Fanconi syndrome' SubClassOf 'disease' - 'Primary Fanconi syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' + 'Primary Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Primary Fanconi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary Fanconi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary Fanconi syndrome' SubClassOf 'disease' + 'Primary Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_98454 Label: Platelet storage pool disease - 'Platelet storage pool disease' SubClassOf 'group of disorders' + 'Platelet storage pool disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3331 Label: Bowed tibiae - radial anomalies - osteopenia - fractures - 'Bowed tibiae - radial anomalies - osteopenia - fractures' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Bowed tibiae - radial anomalies - osteopenia - fractures' SubClassOf 'malformation syndrome' + 'Bowed tibiae - radial anomalies - osteopenia - fractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Bowed tibiae - radial anomalies - osteopenia - fractures' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262101 Label: Partial deletion of the long arm of chromosome 13 - 'Partial deletion of the long arm of chromosome 13' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 13' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3332 Label: Hypoplastic tibiae - postaxial polydactyly - 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'malformation syndrome' - 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_407527 Label: myosin IC - 'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin IC' SubClassOf 'gene' + 'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin IC' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'myosin IC' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_179006 Label: Primary immunodeficiency due to a defect in adaptive immunity - 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'group of disorders' + 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98455 Label: Alpha granule disease - 'Alpha granule disease' SubClassOf 'group of disorders' + 'Alpha granule disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98456 Label: Dense granule disease - 'Dense granule disease' SubClassOf 'group of disorders' + 'Dense granule disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280827 Label: Congenital pulmonary airway malformation type 0 - 'Congenital pulmonary airway malformation type 0' SubClassOf 'part_of' some 'Congenital pulmonary airway malformation' - 'Congenital pulmonary airway malformation type 0' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 0' SubClassOf 'clinical subtype' + 'Congenital pulmonary airway malformation type 0' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_71281 Label: Rare central nervous system and retinal vascular disease - 'Rare central nervous system and retinal vascular disease' SubClassOf 'group of disorders' + 'Rare central nervous system and retinal vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99995 Label: Complex regional pain syndrome type 1 - 'Complex regional pain syndrome type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Complex regional pain syndrome type 1' SubClassOf 'part_of' some 'Complex regional pain syndrome' - 'Complex regional pain syndrome type 1' SubClassOf 'clinical subtype' - 'Complex regional pain syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Complex regional pain syndrome type 1' SubClassOf 'clinical subtype' + 'Complex regional pain syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Complex regional pain syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Complex regional pain syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.57"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_158394 Label: sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A - 'sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A' SubClassOf 'Role in the phenotype of' some 'Monosomy 5p' - 'sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A' SubClassOf 'gene' + 'sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A' SubClassOf 'Candidate gene tested in' some 'Monosomy 5p' + 'sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371188 Label: Congenital disorder of glycosylation with intestinal involvement - 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99991 Label: Relapsing epidemic typhus - 'Relapsing epidemic typhus' SubClassOf 'part_of' some 'Epidemic typhus' - 'Relapsing epidemic typhus' SubClassOf 'clinical subtype' + 'Relapsing epidemic typhus' SubClassOf 'clinical subtype' + 'Relapsing epidemic typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epidemic typhus' Class: http://www.orpha.net/ORDO/Orphanet_158398 Label: single-minded family bHLH transcription factor 1 - 'single-minded family bHLH transcription factor 1' SubClassOf 'Role in the phenotype of' some '6q16 deletion syndrome' - 'single-minded family bHLH transcription factor 1' SubClassOf 'gene' - 'single-minded family bHLH transcription factor 1' SubClassOf 'Major susceptibility factor in' some 'Obesity due to SIM1 deficiency' - 'single-minded family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi-like syndrome due to point mutation' + 'single-minded family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.3"^^http://www.w3.org/2001/XMLSchema#string + 'single-minded family bHLH transcription factor 1' SubClassOf 'Role in the phenotype of' some '6q16 deletion syndrome' + 'single-minded family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'single-minded family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prader-Willi-like syndrome due to point mutation' + 'single-minded family bHLH transcription factor 1' SubClassOf 'Major susceptibility factor in' some 'Obesity due to SIM1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_398971 Label: Clear cell adenocarcinoma of ovary - 'Clear cell adenocarcinoma of ovary' SubClassOf 'disease' - 'Clear cell adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Clear cell adenocarcinoma of ovary' SubClassOf 'disease' + 'Clear cell adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_99994 Label: Complex regional pain syndrome type 2 - 'Complex regional pain syndrome type 2' SubClassOf 'clinical subtype' - 'Complex regional pain syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Complex regional pain syndrome type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Complex regional pain syndrome type 2' SubClassOf 'part_of' some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.82"^^http://www.w3.org/2001/XMLSchema#string) + 'Complex regional pain syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 2' SubClassOf 'clinical subtype' + 'Complex regional pain syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1822 Label: Dysplasia epiphysealis hemimelica - 'Dysplasia epiphysealis hemimelica' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Dysplasia epiphysealis hemimelica' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dysplasia epiphysealis hemimelica' SubClassOf 'malformation syndrome' + 'Dysplasia epiphysealis hemimelica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Dysplasia epiphysealis hemimelica' SubClassOf 'malformation syndrome' + 'Dysplasia epiphysealis hemimelica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99990 Label: Brill-Zinsser disease - 'Brill-Zinsser disease' SubClassOf 'part_of' some 'Epidemic typhus' - 'Brill-Zinsser disease' SubClassOf 'clinical subtype' + 'Brill-Zinsser disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epidemic typhus' + 'Brill-Zinsser disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280898 Label: Panuveitis - 'Panuveitis' SubClassOf 'group of disorders' + 'Panuveitis' SubClassOf 'group of disorders' + 'Panuveitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Panuveitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_371183 Label: Congenital disorder of glycosylation with cardiac malformation as a major feature - 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293633 Label: PYCR1-related De Barsy syndrome - 'PYCR1-related De Barsy syndrome' SubClassOf 'part_of' some 'De Barsy syndrome' - 'PYCR1-related De Barsy syndrome' SubClassOf 'etiological subtype' + 'PYCR1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'De Barsy syndrome' + 'PYCR1-related De Barsy syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79478 Label: Griscelli disease type 3 - 'Griscelli disease type 3' SubClassOf 'part_of' some 'Griscelli disease' - 'Griscelli disease type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Griscelli disease type 3' SubClassOf 'clinical subtype' + 'Griscelli disease type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Griscelli disease type 3' SubClassOf 'clinical subtype' + 'Griscelli disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Griscelli disease' Class: http://www.orpha.net/ORDO/Orphanet_293642 Label: Blepharophimosis-intellectual disability syndrome - 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'group of disorders' + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Blepharophimosis-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79479 Label: Pemphigus vegetans - 'Pemphigus vegetans' SubClassOf 'part_of' some 'Pemphigus vulgaris' - 'Pemphigus vegetans' SubClassOf 'clinical subtype' + 'Pemphigus vegetans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pemphigus vulgaris' + 'Pemphigus vegetans' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79476 Label: Griscelli disease type 1 - 'Griscelli disease type 1' SubClassOf 'clinical subtype' - 'Griscelli disease type 1' SubClassOf 'part_of' some 'Brain inflammatory disease' - 'Griscelli disease type 1' SubClassOf 'part_of' some 'Griscelli disease' + 'Griscelli disease type 1' SubClassOf 'clinical subtype' + 'Griscelli disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Griscelli disease' + 'Griscelli disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_1818 Label: Ectodermal dysplasia, trichoodontoonychial type - 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_79477 Label: Griscelli disease type 2 - 'Griscelli disease type 2' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Griscelli disease type 2' SubClassOf 'clinical subtype' - 'Griscelli disease type 2' SubClassOf 'part_of' some 'Immunodeficiency syndrome with hypopigmentation' - 'Griscelli disease type 2' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Griscelli disease type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Griscelli disease type 2' SubClassOf 'part_of' some 'Griscelli disease' - 'Griscelli disease type 2' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Griscelli disease' + 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Griscelli disease type 2' SubClassOf 'clinical subtype' + 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Griscelli disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with hypopigmentation' Class: http://www.orpha.net/ORDO/Orphanet_118939 Label: ataxin 8 - 'ataxin 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 8' - 'ataxin 8' SubClassOf 'gene' + 'ataxin 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 8' + 'ataxin 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'ataxin 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q21.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118934 Label: ataxin 7 - 'ataxin 7' SubClassOf 'gene' - 'ataxin 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 7' + 'ataxin 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 7' + 'ataxin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1-p12"^^http://www.w3.org/2001/XMLSchema#string + 'ataxin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1816 Label: Ectodermal dysplasia, Berlin type - 'Ectodermal dysplasia, Berlin type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ectodermal dysplasia, Berlin type' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia, Berlin type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ectodermal dysplasia, Berlin type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ectodermal dysplasia, Berlin type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia, Berlin type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ectodermal dysplasia, Berlin type' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia, Berlin type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia, Berlin type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ectodermal dysplasia, Berlin type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99989 Label: Intermediate DEND syndrome - 'Intermediate DEND syndrome' SubClassOf 'part_of' some 'DEND syndrome' - 'Intermediate DEND syndrome' SubClassOf 'clinical subtype' + 'Intermediate DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermediate DEND syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intermediate DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intermediate DEND syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intermediate DEND syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Intermediate DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DEND syndrome' + 'Intermediate DEND syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79474 Label: Atypical Werner syndrome - 'Atypical Werner syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Atypical Werner syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Atypical Werner syndrome' SubClassOf 'disease' + 'Atypical Werner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Atypical Werner syndrome' SubClassOf 'disease' + 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Atypical Werner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_79473 Label: Porphyria variegata - 'Porphyria variegata' SubClassOf 'disease' - 'Porphyria variegata' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Porphyria variegata' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Porphyria variegata' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Porphyria variegata' SubClassOf 'part_of' some 'Acute hepatic porphyria' + 'Porphyria variegata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.006"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.016"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.006"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.026"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.008"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.011"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute hepatic porphyria' + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.006"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Porphyria variegata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Porphyria variegata' SubClassOf 'disease' + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.012"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.004"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.008"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria variegata' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_371176 Label: Congenital disorder of glycosylation with dilated cardiomyopathy - 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158384 Label: ATXN8 opposite strand (non-protein coding) - 'ATXN8 opposite strand (non-protein coding)' SubClassOf 'gene' - 'ATXN8 opposite strand (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 8' + 'ATXN8 opposite strand (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'ATXN8 opposite strand (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 8' + 'ATXN8 opposite strand (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_158382 Label: ribosomal protein S17 - 'ribosomal protein S17' SubClassOf 'gene' - 'ribosomal protein S17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.2"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_158388 Label: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A - 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf 'gene' + 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_398961 Label: Mucinous adenocarcinoma of ovary - 'Mucinous adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Mucinous adenocarcinoma of ovary' SubClassOf 'disease' + 'Mucinous adenocarcinoma of ovary' SubClassOf 'disease' + 'Mucinous adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_158386 Label: bone morphogenetic protein 15 - 'bone morphogenetic protein 15' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'bone morphogenetic protein 15' SubClassOf 'gene' + 'bone morphogenetic protein 15' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' + 'bone morphogenetic protein 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280886 Label: Anterior uveitis - 'Anterior uveitis' SubClassOf 'group of disorders' + 'Anterior uveitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anterior uveitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "185.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Anterior uveitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Anterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1832 Label: Lethal osteosclerotic bone dysplasia - 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal osteosclerotic bone dysplasia' SubClassOf 'malformation syndrome' - 'Lethal osteosclerotic bone dysplasia' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' + 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal osteosclerotic bone dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal osteosclerotic bone dysplasia' SubClassOf 'malformation syndrome' + 'Lethal osteosclerotic bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Lethal osteosclerotic bone dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_407507 Label: mediator complex subunit 17 - 'mediator complex subunit 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' - 'mediator complex subunit 17' SubClassOf 'gene' + 'mediator complex subunit 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mediator complex subunit 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_1834 Label: Axial mesodermal dysplasia spectrum - 'Axial mesodermal dysplasia spectrum' SubClassOf 'malformation syndrome' - 'Axial mesodermal dysplasia spectrum' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Axial mesodermal dysplasia spectrum' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Axial mesodermal dysplasia spectrum' SubClassOf 'malformation syndrome' + 'Axial mesodermal dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Axial mesodermal dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_371170 Label: nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)' SubClassOf 'gene' + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_289008 Label: nitric oxide synthase 1 (neuronal) adaptor protein - 'nitric oxide synthase 1 (neuronal) adaptor protein' SubClassOf 'gene' - 'nitric oxide synthase 1 (neuronal) adaptor protein' SubClassOf 'Modifying germline mutation in' some 'Romano-Ward syndrome' + 'nitric oxide synthase 1 (neuronal) adaptor protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nitric oxide synthase 1 (neuronal) adaptor protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'nitric oxide synthase 1 (neuronal) adaptor protein' SubClassOf 'Modifying germline mutation in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1830 Label: Schimke immuno-osseous dysplasia - 'Schimke immuno-osseous dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Schimke immuno-osseous dysplasia' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Schimke immuno-osseous dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Schimke immuno-osseous dysplasia' SubClassOf 'part_of' some 'Immuno-osseous dysplasia' - 'Schimke immuno-osseous dysplasia' SubClassOf 'disease' - 'Schimke immuno-osseous dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schimke immuno-osseous dysplasia' SubClassOf 'part_of' some 'Malformative syndrome with dentinogenesis imperfecta' - 'Schimke immuno-osseous dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Schimke immuno-osseous dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformative syndrome with dentinogenesis imperfecta' + 'Schimke immuno-osseous dysplasia' SubClassOf 'disease' + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Schimke immuno-osseous dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schimke immuno-osseous dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immuno-osseous dysplasia' + 'Schimke immuno-osseous dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363189 Label: Congenital anomaly of the great veins - 'Congenital anomaly of the great veins' SubClassOf 'group of disorders' + 'Congenital anomaly of the great veins' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118928 Label: ataxin 3 - 'ataxin 3' SubClassOf 'gene' - 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 3' - 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 1' - 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 2' + 'ataxin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21"^^http://www.w3.org/2001/XMLSchema#string + 'ataxin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 3' + 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 1' + 'ataxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Machado-Joseph disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_79489 Label: Macrocystic lymphatic malformation - 'Macrocystic lymphatic malformation' SubClassOf 'malformation syndrome' - 'Macrocystic lymphatic malformation' SubClassOf 'part_of' some 'Lymphatic malformation' - 'Macrocystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Macrocystic lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' + 'Macrocystic lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphatic malformation' + 'Macrocystic lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Macrocystic lymphatic malformation' SubClassOf 'malformation syndrome' + 'Macrocystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Macrocystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1825 Label: Epiphyseal dysplasia - hearing loss - dysmorphism - 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'malformation syndrome' - 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'malformation syndrome' + 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280892 Label: Posterior uveitis - 'Posterior uveitis' SubClassOf 'group of disorders' + 'Posterior uveitis' SubClassOf 'group of disorders' + 'Posterior uveitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Posterior uveitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1824 Label: Lowry-Wood syndrome - 'Lowry-Wood syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lowry-Wood syndrome' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' - 'Lowry-Wood syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lowry-Wood syndrome' SubClassOf 'disease' - 'Lowry-Wood syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lowry-Wood syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lowry-Wood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lowry-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Lowry-Wood syndrome' SubClassOf 'disease' + 'Lowry-Wood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_118923 Label: ataxin 2 - 'ataxin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 2' - 'ataxin 2' SubClassOf 'gene' - 'ataxin 2' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'ataxin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 2' + 'ataxin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'ataxin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ataxin 2' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_1827 Label: Acromelic frontonasal dysplasia - 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Acromelic frontonasal dysplasia' SubClassOf 'malformation syndrome' - 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Acromelic frontonasal dysplasia' SubClassOf 'malformation syndrome' + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_1826 Label: Frontometaphyseal dysplasia - 'Frontometaphyseal dysplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Frontometaphyseal dysplasia' SubClassOf 'part_of' some 'Frontootopalatodigital syndrome' - 'Frontometaphyseal dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Frontometaphyseal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Frontometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Frontometaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Frontometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Frontometaphyseal dysplasia' SubClassOf 'disease' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontootopalatodigital syndrome' + 'Frontometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Frontometaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frontometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontometaphyseal dysplasia' SubClassOf 'disease' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95854 Label: Levocardia - 'Levocardia' SubClassOf 'morphological anomaly' - 'Levocardia' SubClassOf 'part_of' some 'Heterotaxia' + 'Levocardia' SubClassOf 'morphological anomaly' + 'Levocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_79480 Label: Pemphigus erythematosus - 'Pemphigus erythematosus' SubClassOf 'disease' - 'Pemphigus erythematosus' SubClassOf 'part_of' some 'Superficial pemphigus' + 'Pemphigus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial pemphigus' + 'Pemphigus erythematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79481 Label: Pemphigus foliaceus - 'Pemphigus foliaceus' SubClassOf 'disease' - 'Pemphigus foliaceus' SubClassOf 'part_of' some 'Superficial pemphigus' + 'Pemphigus foliaceus' SubClassOf 'disease' + 'Pemphigus foliaceus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial pemphigus' Class: http://www.orpha.net/ORDO/Orphanet_330918 Label: T-cell leukemia homeobox 3 - 'T-cell leukemia homeobox 3' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'T-cell leukemia homeobox 3' SubClassOf 'gene' + 'T-cell leukemia homeobox 3' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T-cell leukemia homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-cell leukemia homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79483 Label: Phakomatosis cesioflammea - 'Phakomatosis cesioflammea' SubClassOf 'clinical subtype' - 'Phakomatosis cesioflammea' SubClassOf 'part_of' some 'Phakomatosis pigmentovascularis' + 'Phakomatosis cesioflammea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phakomatosis pigmentovascularis' + 'Phakomatosis cesioflammea' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79484 Label: Phakomatosis cesiomarmorata - 'Phakomatosis cesiomarmorata' SubClassOf 'part_of' some 'Phakomatosis pigmentovascularis' - 'Phakomatosis cesiomarmorata' SubClassOf 'clinical subtype' + 'Phakomatosis cesiomarmorata' SubClassOf 'clinical subtype' + 'Phakomatosis cesiomarmorata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phakomatosis pigmentovascularis' Class: http://www.orpha.net/ORDO/Orphanet_330912 Label: T-cell leukemia homeobox 1 - 'T-cell leukemia homeobox 1' SubClassOf 'gene' - 'T-cell leukemia homeobox 1' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T-cell leukemia homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'T-cell leukemia homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-cell leukemia homeobox 1' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_79485 Label: Phakomatosis spilorosea - 'Phakomatosis spilorosea' SubClassOf 'clinical subtype' - 'Phakomatosis spilorosea' SubClassOf 'part_of' some 'Phakomatosis pigmentovascularis' + 'Phakomatosis spilorosea' SubClassOf 'clinical subtype' + 'Phakomatosis spilorosea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phakomatosis pigmentovascularis' Class: http://www.orpha.net/ORDO/Orphanet_79486 Label: Cystic hygroma - 'Cystic hygroma' SubClassOf 'has_inheritance' some 'sporadic' - 'Cystic hygroma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cystic hygroma' SubClassOf 'part_of' some 'Cervicofacial lymphatic malformation' - 'Cystic hygroma' SubClassOf 'clinical subtype' + 'Cystic hygroma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cystic hygroma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cystic hygroma' SubClassOf 'clinical subtype' + 'Cystic hygroma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cystic hygroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cervicofacial lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_158372 Label: B-cell CLL/lymphoma 6 - 'B-cell CLL/lymphoma 6' SubClassOf 'gene' - 'B-cell CLL/lymphoma 6' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' - 'B-cell CLL/lymphoma 6' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Intravascular large B-cell lymphoma' - 'B-cell CLL/lymphoma 6' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Primary mediastinal large B-cell lymphoma' + 'B-cell CLL/lymphoma 6' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' + 'B-cell CLL/lymphoma 6' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Intravascular large B-cell lymphoma' + 'B-cell CLL/lymphoma 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27"^^http://www.w3.org/2001/XMLSchema#string + 'B-cell CLL/lymphoma 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell CLL/lymphoma 6' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Primary mediastinal large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_371162 Label: solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 - 'solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3' SubClassOf 'gene' - 'solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' + 'solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1844 Label: Bone dysplasia, Azouz type - 'Bone dysplasia, Azouz type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bone dysplasia, Azouz type' SubClassOf 'malformation syndrome' - 'Bone dysplasia, Azouz type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bone dysplasia, Azouz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bone dysplasia, Azouz type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bone dysplasia, Azouz type' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Bone dysplasia, Azouz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bone dysplasia, Azouz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bone dysplasia, Azouz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Bone dysplasia, Azouz type' SubClassOf 'malformation syndrome' + 'Bone dysplasia, Azouz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bone dysplasia, Azouz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bone dysplasia, Azouz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_158379 Label: complement factor B - 'complement factor B' SubClassOf 'gene' - 'complement factor B' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with B factor anomaly' + 'complement factor B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.33"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor B' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with B factor anomaly' + 'complement factor B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1842 Label: Bone dysplasia, lethal Holmgren type - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'malformation syndrome' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'malformation syndrome' + 'Bone dysplasia, lethal Holmgren type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bone dysplasia, lethal Holmgren type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1837 Label: Ulna metaphyseal dysplasia syndrome - 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'disease' + 'Ulna metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118958 Label: beta 1,3-galactosyltransferase-like - 'beta 1,3-galactosyltransferase-like' SubClassOf 'gene' - 'beta 1,3-galactosyltransferase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters plus syndrome' + 'beta 1,3-galactosyltransferase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'beta 1,3-galactosyltransferase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta 1,3-galactosyltransferase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1836 Label: Mesomelic dysplasia, Kantaputra type - 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'malformation syndrome' - 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelic dysplasia, Kantaputra type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'malformation syndrome' + 'Mesomelic dysplasia, Kantaputra type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_330909 Label: T-cell leukemia/lymphoma 1A - 'T-cell leukemia/lymphoma 1A' SubClassOf 'gene' - 'T-cell leukemia/lymphoma 1A' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T-cell leukemia/lymphoma 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-cell leukemia/lymphoma 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-cell leukemia/lymphoma 1A' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_79499 Label: Deafness - onychodystrophy, autosomal dominant - 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'part_of' some 'Deafness - onychodystrophy' - 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'clinical subtype' + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deafness - onychodystrophy' + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'clinical subtype' + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - onychodystrophy, autosomal dominant' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1839 Label: Hereditary mucoepithelial dysplasia - 'Hereditary mucoepithelial dysplasia' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Hereditary mucoepithelial dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary mucoepithelial dysplasia' SubClassOf 'malformation syndrome' - 'Hereditary mucoepithelial dysplasia' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Hereditary mucoepithelial dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary mucoepithelial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hereditary mucoepithelial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary mucoepithelial dysplasia' SubClassOf 'malformation syndrome' + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Hereditary mucoepithelial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_330902 Label: T cell receptor gamma locus - 'T cell receptor gamma locus' SubClassOf 'Candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'T cell receptor gamma locus' SubClassOf 'gene' + 'T cell receptor gamma locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string + 'T cell receptor gamma locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T cell receptor gamma locus' SubClassOf 'Candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_79495 Label: X-linked congenital generalized hypertrichosis - 'X-linked congenital generalized hypertrichosis' SubClassOf 'part_of' some 'Hypertrichosis lanuginosa congenita' - 'X-linked congenital generalized hypertrichosis' SubClassOf 'clinical subtype' + 'X-linked congenital generalized hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis lanuginosa congenita' + 'X-linked congenital generalized hypertrichosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79492 Label: Pili gemini - 'Pili gemini' SubClassOf 'disease' - 'Pili gemini' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' + 'Pili gemini' SubClassOf 'disease' + 'Pili gemini' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_79493 Label: Brooke-Spiegler syndrome - 'Brooke-Spiegler syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Brooke-Spiegler syndrome' SubClassOf 'disease' - 'Brooke-Spiegler syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Brooke-Spiegler syndrome' SubClassOf 'part_of' some 'Palpebral piliary tumor' + 'Brooke-Spiegler syndrome' SubClassOf 'disease' + 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral piliary tumor' Class: http://www.orpha.net/ORDO/Orphanet_79490 Label: Microcystic lymphatic malformation - 'Microcystic lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Microcystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcystic lymphatic malformation' SubClassOf 'malformation syndrome' - 'Microcystic lymphatic malformation' SubClassOf 'part_of' some 'Lymphatic malformation' + 'Microcystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcystic lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphatic malformation' + 'Microcystic lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microcystic lymphatic malformation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118954 Label: axin 2 - 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia - cancer predisposition syndrome' - 'axin 2' SubClassOf 'gene' - 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'AXIN2-related attenuated familial adenomatous polyposis' + 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia - cancer predisposition syndrome' + 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'AXIN2-related attenuated familial adenomatous polyposis' + 'axin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'axin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_398940 Label: Malignant non-epithelial tumor of ovary - 'Malignant non-epithelial tumor of ovary' SubClassOf 'group of disorders' + 'Malignant non-epithelial tumor of ovary' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_164004 Label: Middle ear anomaly - 'Middle ear anomaly' SubClassOf 'group of disorders' + 'Middle ear anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371157 Label: Congenital disorder of glycosylation with hepatic involvement - 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_164001 Label: Rare odontal or periodontal disorder - 'Rare odontal or periodontal disorder' SubClassOf 'group of disorders' + 'Rare odontal or periodontal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293621 Label: X-linked endothelial corneal dystrophy - 'X-linked endothelial corneal dystrophy' SubClassOf 'disease' - 'X-linked endothelial corneal dystrophy' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'X-linked endothelial corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'X-linked endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked endothelial corneal dystrophy' SubClassOf 'disease' + 'X-linked endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked endothelial corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1850 Label: Renal dysplasia - megalocystis - sirenomelia - 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'malformation syndrome' - 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'malformation syndrome' + 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1851 Label: Multicystic dysplastic kidney - 'Multicystic dysplastic kidney' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Multicystic dysplastic kidney' SubClassOf 'morphological anomaly' - 'Multicystic dysplastic kidney' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' + 'Multicystic dysplastic kidney' SubClassOf 'morphological anomaly' + 'Multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Multicystic dysplastic kidney' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1852 Label: X-linked retinal dysplasia - 'X-linked retinal dysplasia' SubClassOf 'part_of' some 'Retinal dystrophy' - 'X-linked retinal dysplasia' SubClassOf 'disease' + 'X-linked retinal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'X-linked retinal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1855 Label: Spondyloenchondrodysplasia - 'Spondyloenchondrodysplasia' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondyloenchondrodysplasia' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Spondyloenchondrodysplasia' SubClassOf 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'Non-syndromic renal or urinary tract malformation' + 'Bilateral renal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bilateral renal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_353890 Label: toll-like receptor 4 - 'toll-like receptor 4' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'toll-like receptor 4' SubClassOf 'gene' + 'toll-like receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'toll-like receptor 4' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'toll-like receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118943 Label: arginine vasopressin - 'arginine vasopressin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary central diabetes insipidus' - 'arginine vasopressin' SubClassOf 'gene' + 'arginine vasopressin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'arginine vasopressin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary central diabetes insipidus' + 'arginine vasopressin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118941 Label: AU RNA binding protein/enoyl-CoA hydratase - 'AU RNA binding protein/enoyl-CoA hydratase' SubClassOf 'gene' - 'AU RNA binding protein/enoyl-CoA hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 1' + 'AU RNA binding protein/enoyl-CoA hydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'AU RNA binding protein/enoyl-CoA hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 1' + 'AU RNA binding protein/enoyl-CoA hydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_155899 Label: Mandibulofacial dysostosis - 'Mandibulofacial dysostosis' SubClassOf 'group of disorders' + 'Mandibulofacial dysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_155896 Label: Otomandibular dysplasia - 'Otomandibular dysplasia' SubClassOf 'group of disorders' + 'Otomandibular dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398934 Label: Malignant epithelial tumor of ovary - 'Malignant epithelial tumor of ovary' SubClassOf 'group of disorders' + 'Malignant epithelial tumor of ovary' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_71211 Label: Neuromyelitis optica - 'Neuromyelitis optica' SubClassOf 'part_of' some 'Multiple sclerosis variant' - 'Neuromyelitis optica' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Neuromyelitis optica' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Neuromyelitis optica' SubClassOf 'disease' - 'Neuromyelitis optica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Neuromyelitis optica' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Neuromyelitis optica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neuromyelitis optica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Neuromyelitis optica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Neuromyelitis optica' SubClassOf 'disease' + 'Neuromyelitis optica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Neuromyelitis optica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_121098 Label: dihydrolipoamide S-acetyltransferase - 'dihydrolipoamide S-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E2 deficiency' - 'dihydrolipoamide S-acetyltransferase' SubClassOf 'gene' + 'dihydrolipoamide S-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'dihydrolipoamide S-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E2 deficiency' + 'dihydrolipoamide S-acetyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_71203 Label: Autoimmune thrombocytopenia - 'Autoimmune thrombocytopenia' SubClassOf 'group of disorders' + 'Autoimmune thrombocytopenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118975 Label: Bardet-Biedl syndrome 1 - 'Bardet-Biedl syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'Bardet-Biedl syndrome 1' SubClassOf 'gene' + 'Bardet-Biedl syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'Bardet-Biedl syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_332191 Label: ficolin (collagen/fibrinogen domain containing) 3 - 'ficolin (collagen/fibrinogen domain containing) 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to ficolin3 deficiency' - 'ficolin (collagen/fibrinogen domain containing) 3' SubClassOf 'gene' + 'ficolin (collagen/fibrinogen domain containing) 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to ficolin3 deficiency' + 'ficolin (collagen/fibrinogen domain containing) 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string + 'ficolin (collagen/fibrinogen domain containing) 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_71202 Label: Rare hemorrhagic disorder due to a constitutional platelet anomaly - 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121091 Label: dyskeratosis congenita 1, dyskerin - 'dyskeratosis congenita 1, dyskerin' SubClassOf 'gene' - 'dyskeratosis congenita 1, dyskerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'dyskeratosis congenita 1, dyskerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' + 'dyskeratosis congenita 1, dyskerin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'dyskeratosis congenita 1, dyskerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'dyskeratosis congenita 1, dyskerin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' + 'dyskeratosis congenita 1, dyskerin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118970 Label: bromodomain adjacent to zinc finger domain, 1B - 'bromodomain adjacent to zinc finger domain, 1B' SubClassOf 'gene' - 'bromodomain adjacent to zinc finger domain, 1B' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'bromodomain adjacent to zinc finger domain, 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'bromodomain adjacent to zinc finger domain, 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bromodomain adjacent to zinc finger domain, 1B' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201163 Label: immunoglobulin heavy locus - 'immunoglobulin heavy locus' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' - 'immunoglobulin heavy locus' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' - 'immunoglobulin heavy locus' SubClassOf 'gene' - 'immunoglobulin heavy locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' - 'immunoglobulin heavy locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'immunoglobulin heavy locus' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' + 'immunoglobulin heavy locus' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' + 'immunoglobulin heavy locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin heavy locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' + 'immunoglobulin heavy locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'immunoglobulin heavy locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_71209 Label: Rare soft tissue tumor - 'Rare soft tissue tumor' SubClassOf 'group of disorders' + 'Rare soft tissue tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_369873 Label: Obesity due to SIM1 deficiency - 'Obesity due to SIM1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to SIM1 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' - 'Obesity due to SIM1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity due to SIM1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity due to SIM1 deficiency' SubClassOf 'disease' + 'Obesity due to SIM1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Obesity due to SIM1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to SIM1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to SIM1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Obesity due to SIM1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309108 Label: Pancreatic colipase deficiency - 'Pancreatic colipase deficiency' SubClassOf 'part_of' some 'Disorder of lipid absorption and transport' - 'Pancreatic colipase deficiency' SubClassOf 'disease' + 'Pancreatic colipase deficiency' SubClassOf 'disease' + 'Pancreatic colipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_118978 Label: Bardet-Biedl syndrome 10 - 'Bardet-Biedl syndrome 10' SubClassOf 'gene' - 'Bardet-Biedl syndrome 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bardet-Biedl syndrome 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'Bardet-Biedl syndrome 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293603 Label: Congenital hereditary endothelial dystrophy type II - 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'disease' + 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hereditary endothelial dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201171 Label: forkhead box P1 - 'forkhead box P1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'forkhead box P1' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' - 'forkhead box P1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' - 'forkhead box P1' SubClassOf 'gene' + 'forkhead box P1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box P1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'forkhead box P1' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' + 'forkhead box P1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' + 'forkhead box P1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137959 Label: thromboxane A synthase 1 (platelet) - 'thromboxane A synthase 1 (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ghosal hematodiaphyseal dysplasia' - 'thromboxane A synthase 1 (platelet)' SubClassOf 'gene' + 'thromboxane A synthase 1 (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ghosal hematodiaphyseal dysplasia' + 'thromboxane A synthase 1 (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'thromboxane A synthase 1 (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_332185 Label: mannan-binding lectin serine peptidase 2 - 'mannan-binding lectin serine peptidase 2' SubClassOf 'gene' - 'mannan-binding lectin serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to MASP-2 deficiency' + 'mannan-binding lectin serine peptidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3-p36.2"^^http://www.w3.org/2001/XMLSchema#string + 'mannan-binding lectin serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to MASP-2 deficiency' + 'mannan-binding lectin serine peptidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_71212 Label: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Energy metabolism disorder with epilepsy' - 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some '3-hydroxyacyl-CoA dehydrogenase deficiency' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Energy metabolism disorder with epilepsy' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-hydroxyacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_71213 Label: Retinal cavernous hemangioma - 'Retinal cavernous hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Retinal cavernous hemangioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Retinal cavernous hemangioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Retinal cavernous hemangioma' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Retinal cavernous hemangioma' SubClassOf 'disease' - 'Retinal cavernous hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Retinal cavernous hemangioma' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Retinal cavernous hemangioma' SubClassOf 'part_of' some 'Genetic neurovascular malformation' + 'Retinal cavernous hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Retinal cavernous hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Retinal cavernous hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Retinal cavernous hemangioma' SubClassOf 'disease' + 'Retinal cavernous hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Retinal cavernous hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinal cavernous hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_118962 Label: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 - 'UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1' SubClassOf 'gene' - 'UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'B4GALT1-CDG' + 'UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'B4GALT1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_369886 Label: Homozygous 2p21 microdeletion syndrome - 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'group of disorders' + 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_303832 Label: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) - 'dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)' SubClassOf 'gene' - 'dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'DDOST-CDG' + 'dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'DDOST-CDG' + 'dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_369881 Label: 2p21 microdeletion syndrome without cystinuria - '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2p21 microdeletion syndrome without cystinuria' SubClassOf 'part_of' some 'Homozygous 2p21 microdeletion syndrome' - '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '2p21 microdeletion syndrome without cystinuria' SubClassOf 'malformation syndrome' - '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2p21 microdeletion syndrome without cystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homozygous 2p21 microdeletion syndrome' + '2p21 microdeletion syndrome without cystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '2p21 microdeletion syndrome without cystinuria' SubClassOf 'malformation syndrome' + '2p21 microdeletion syndrome without cystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_118966 Label: xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 - 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'gene' - 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reunion island's Larsen syndrome' - 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, progeroid type' + 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reunion island's Larsen syndrome' + 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.1-q35.3"^^http://www.w3.org/2001/XMLSchema#string + 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, progeroid type' + 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303819 Label: phospholipase C, gamma 2 (phosphatidylinositol-specific) - 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf 'gene' - 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'PLCG2-associated antibody deficiency and immune dysregulation' - 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' + 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'PLCG2-associated antibody deficiency and immune dysregulation' + 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' + 'phospholipase C, gamma 2 (phosphatidylinositol-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1801 Label: Kyphomelic dysplasia - 'Kyphomelic dysplasia' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Kyphomelic dysplasia' SubClassOf 'malformation syndrome' + 'Kyphomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Kyphomelic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171445 Label: Muscle filaminopathy - 'Muscle filaminopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of filamin C' - 'Muscle filaminopathy' SubClassOf 'disease' - 'Muscle filaminopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' + 'Muscle filaminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Muscle filaminopathy' SubClassOf 'disease' + 'Muscle filaminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of filamin C' Class: http://www.orpha.net/ORDO/Orphanet_406487 Label: dual serine/threonine and tyrosine protein kinase - 'dual serine/threonine and tyrosine protein kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'dual serine/threonine and tyrosine protein kinase' SubClassOf 'gene' + 'dual serine/threonine and tyrosine protein kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'dual serine/threonine and tyrosine protein kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'dual serine/threonine and tyrosine protein kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_137988 Label: adaptor-related protein complex 1, sigma 2 subunit - 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' - 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fried syndrome' - 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' + 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 1, sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fried syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118990 Label: Bardet-Biedl syndrome 7 - 'Bardet-Biedl syndrome 7' SubClassOf 'gene' - 'Bardet-Biedl syndrome 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bardet-Biedl syndrome 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118994 Label: Bardet-Biedl syndrome 9 - 'Bardet-Biedl syndrome 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'Bardet-Biedl syndrome 9' SubClassOf 'gene' + 'Bardet-Biedl syndrome 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string + 'Bardet-Biedl syndrome 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118998 Label: butyrylcholinesterase - 'butyrylcholinesterase' SubClassOf 'Major susceptibility factor in' some 'Butyrylcholinesterase deficiency' - 'butyrylcholinesterase' SubClassOf 'gene' + 'butyrylcholinesterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.1-q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'butyrylcholinesterase' SubClassOf 'Major susceptibility factor in' some 'Butyrylcholinesterase deficiency' + 'butyrylcholinesterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303823 Label: CASP2 and RIPK1 domain containing adaptor with death domain - 'CASP2 and RIPK1 domain containing adaptor with death domain' SubClassOf 'gene' - 'CASP2 and RIPK1 domain containing adaptor with death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'CASP2 and RIPK1 domain containing adaptor with death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CASP2 and RIPK1 domain containing adaptor with death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'CASP2 and RIPK1 domain containing adaptor with death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.33-q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_53372 Label: Hereditary geniospasm - 'Hereditary geniospasm' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary geniospasm' SubClassOf 'disease' - 'Hereditary geniospasm' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Hereditary geniospasm' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary geniospasm' SubClassOf 'part_of' some 'Rare genetic tremor disorder' - 'Hereditary geniospasm' SubClassOf 'has_prevalence' some 'Unknown' + 'Hereditary geniospasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic tremor disorder' + 'Hereditary geniospasm' SubClassOf 'disease' + 'Hereditary geniospasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary geniospasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary geniospasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_369891 Label: Cardiac anomalies-developmental delay-facial dysmorphism syndrome - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_369897 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'clinical subtype' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_303828 Label: glycerol-3-phosphate dehydrogenase 1 (soluble) - 'glycerol-3-phosphate dehydrogenase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient infantile hypertriglyceridemia and hepatosteatosis' - 'glycerol-3-phosphate dehydrogenase 1 (soluble)' SubClassOf 'gene' + 'glycerol-3-phosphate dehydrogenase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycerol-3-phosphate dehydrogenase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient infantile hypertriglyceridemia and hepatosteatosis' + 'glycerol-3-phosphate dehydrogenase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_369894 Label: Early infantile epileptic encephalopathy without suppression burst - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'disease' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'disease' + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_360500 Label: zinc finger, MYND-type containing 10 - 'zinc finger, MYND-type containing 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'zinc finger, MYND-type containing 10' SubClassOf 'gene' + 'zinc finger, MYND-type containing 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'zinc finger, MYND-type containing 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, MYND-type containing 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371195 Label: Congenital disorder of glycosylation-related bone disorder - 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_360504 Label: beta-transducin repeat containing E3 ubiquitin protein ligase - 'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'gene' - 'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' + 'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_303807 Label: histidyl-tRNA synthetase - 'histidyl-tRNA synthetase' SubClassOf 'gene' - 'histidyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' + 'histidyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'histidyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 3' + 'histidyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1810 Label: Autosomal dominant hypohidrotic ectodermal dysplasia - 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' - 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'part_of' some 'Hypohidrotic ectodermal dysplasia' + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'etiological subtype' + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1812 Label: Ectodermal dysplasia - intellectual disability - central nervous system malformation - 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_prevalence' some 'Unknown' - 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1811 Label: Odontomicronychial dysplasia - 'Odontomicronychial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odontomicronychial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Odontomicronychial dysplasia' SubClassOf 'malformation syndrome' - 'Odontomicronychial dysplasia' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Odontomicronychial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Odontomicronychial dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Odontomicronychial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odontomicronychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Odontomicronychial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Odontomicronychial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Odontomicronychial dysplasia' SubClassOf 'malformation syndrome' + 'Odontomicronychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_269197 Label: Glioependymal/ependymal cyst - 'Glioependymal/ependymal cyst' SubClassOf 'morphological anomaly' - 'Glioependymal/ependymal cyst' SubClassOf 'part_of' some 'Central nervous system cystic malformation' - 'Glioependymal/ependymal cyst' SubClassOf 'has_prevalence' some 'Unknown' + 'Glioependymal/ependymal cyst' SubClassOf 'morphological anomaly' + 'Glioependymal/ependymal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_118982 Label: Bardet-Biedl syndrome 2 - 'Bardet-Biedl syndrome 2' SubClassOf 'gene' - 'Bardet-Biedl syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q21"^^http://www.w3.org/2001/XMLSchema#string + 'Bardet-Biedl syndrome 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269190 Label: Encephaloclastic disorder - 'Encephaloclastic disorder' SubClassOf 'group of disorders' + 'Encephaloclastic disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363162 Label: ADP-ribosylation factor-like 2 binding protein - 'ADP-ribosylation factor-like 2 binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'ADP-ribosylation factor-like 2 binding protein' SubClassOf 'gene' + 'ADP-ribosylation factor-like 2 binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADP-ribosylation factor-like 2 binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'ADP-ribosylation factor-like 2 binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269194 Label: Central nervous system cystic malformation - 'Central nervous system cystic malformation' SubClassOf 'group of disorders' + 'Central nervous system cystic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244206 Label: methyl-CpG binding domain protein 5 - 'methyl-CpG binding domain protein 5' SubClassOf 'Role in the phenotype of' some '2q23.1 microdeletion syndrome' - 'methyl-CpG binding domain protein 5' SubClassOf 'gene' - 'methyl-CpG binding domain protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'methyl-CpG binding domain protein 5' SubClassOf 'Role in the phenotype of' some '2q23.1 microdeletion syndrome' + 'methyl-CpG binding domain protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'methyl-CpG binding domain protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'methyl-CpG binding domain protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118987 Label: Bardet-Biedl syndrome 5 - 'Bardet-Biedl syndrome 5' SubClassOf 'gene' - 'Bardet-Biedl syndrome 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bardet-Biedl syndrome 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118985 Label: Bardet-Biedl syndrome 4 - 'Bardet-Biedl syndrome 4' SubClassOf 'gene' - 'Bardet-Biedl syndrome 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.3-q23"^^http://www.w3.org/2001/XMLSchema#string + 'Bardet-Biedl syndrome 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Bardet-Biedl syndrome 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_46724 Label: Cerebral arteriovenous malformation - 'Cerebral arteriovenous malformation' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Cerebral arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous fistula' - 'Cerebral arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebral arteriovenous malformation' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cerebral arteriovenous malformation' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'Cerebral arteriovenous malformation' SubClassOf 'morphological anomaly' + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Cerebral arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebral arteriovenous malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous fistula' + 'Cerebral arteriovenous malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1802 Label: Ghosal hematodiaphyseal dysplasia - 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'malformation syndrome' - 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Ghosal hematodiaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ghosal hematodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_1803 Label: Thoracomelic dysplasia - 'Thoracomelic dysplasia' SubClassOf 'part_of' some 'Thoracic malformation' - 'Thoracomelic dysplasia' SubClassOf 'part_of' some 'Short rib dysplasia' - 'Thoracomelic dysplasia' SubClassOf 'disease' + 'Thoracomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib dysplasia' + 'Thoracomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Thoracomelic dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1804 Label: Dyssegmental dysplasia - glaucoma - 'Dyssegmental dysplasia - glaucoma' SubClassOf 'malformation syndrome' - 'Dyssegmental dysplasia - glaucoma' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Dyssegmental dysplasia - glaucoma' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Dyssegmental dysplasia - glaucoma' SubClassOf 'malformation syndrome' + 'Dyssegmental dysplasia - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Dyssegmental dysplasia - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_1806 Label: Ectodermal dysplasia - blindness - 'Ectodermal dysplasia - blindness' SubClassOf 'malformation syndrome' - 'Ectodermal dysplasia - blindness' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia - blindness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ectodermal dysplasia - blindness' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Ectodermal dysplasia - blindness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ectodermal dysplasia - blindness' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ectodermal dysplasia - blindness' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia - blindness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectodermal dysplasia - blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - blindness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ectodermal dysplasia - blindness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ectodermal dysplasia - blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' Class: http://www.orpha.net/ORDO/Orphanet_1807 Label: Focal facial dermal dysplasia type III - 'Focal facial dermal dysplasia type III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia type III' SubClassOf 'clinical subtype' - 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia type III' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' - 'Focal facial dermal dysplasia type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia type III' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1808 Label: Hidrotic ectodermal dysplasia, Christianson-Fourie type - 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'malformation syndrome' - 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'malformation syndrome' + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1809 Label: Hidrotic ectodermal dysplasia, Halal type - 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'malformation syndrome' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'malformation syndrome' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99919 Label: Staphylococcal toxic-shock syndrome - 'Staphylococcal toxic-shock syndrome' SubClassOf 'etiological subtype' - 'Staphylococcal toxic-shock syndrome' SubClassOf 'part_of' some 'Bacterial toxic-shock syndrome' - 'Staphylococcal toxic-shock syndrome' SubClassOf 'part_of' some 'Staphylococcal toxemia' + 'Staphylococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bacterial toxic-shock syndrome' + 'Staphylococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Staphylococcal toxemia' + 'Staphylococcal toxic-shock syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_324353 Label: Congenital achiasma - 'Congenital achiasma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital achiasma' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Congenital achiasma' SubClassOf 'morphological anomaly' - 'Congenital achiasma' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital achiasma' SubClassOf 'morphological anomaly' + 'Congenital achiasma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital achiasma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital achiasma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_391813 Label: protein O-glucosyltransferase 1 - 'protein O-glucosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' - 'protein O-glucosyltransferase 1' SubClassOf 'gene' + 'protein O-glucosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' + 'protein O-glucosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'protein O-glucosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_292088 Label: teashirt zinc finger homeobox 1 - 'teashirt zinc finger homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'External auditory canal aplasia/hypoplasia' - 'teashirt zinc finger homeobox 1' SubClassOf 'gene' + 'teashirt zinc finger homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'teashirt zinc finger homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'External auditory canal aplasia/hypoplasia' + 'teashirt zinc finger homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_390766 Label: grainyhead-like 3 (Drosophila) - 'grainyhead-like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van der Woude syndrome' - 'grainyhead-like 3 (Drosophila)' SubClassOf 'gene' + 'grainyhead-like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van der Woude syndrome' + 'grainyhead-like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'grainyhead-like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_369962 Label: Methylmalonic acidemia with homocystinuria, type cblX - 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'part_of' some 'Methylmalonic acidemia with homocystinuria' - 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'clinical subtype' - 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99912 Label: Malignant dysgerminomatous germ cell tumor - 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'part_of' some 'Malignant germ cell tumor of ovary' - 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'disease' + 'Malignant dysgerminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant germ cell tumor of ovary' + 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_238696 Label: Transient congenital hypothyroidism due to maternal factor - 'Transient congenital hypothyroidism due to maternal factor' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism due to maternal factor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99914 Label: Gynandroblastoma - 'Gynandroblastoma' SubClassOf 'part_of' some 'Malignant ovarian sex cord-stromal tumor' - 'Gynandroblastoma' SubClassOf 'disease' + 'Gynandroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant ovarian sex cord-stromal tumor' + 'Gynandroblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99913 Label: Extragonadal non-dysgerminomatous germ cell tumor - 'Extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'group of disorders' + 'Extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99916 Label: Ovarian malignant Sertoli-Leydig cell tumor - 'Ovarian malignant Sertoli-Leydig cell tumor' SubClassOf 'disease' - 'Ovarian malignant Sertoli-Leydig cell tumor' SubClassOf 'part_of' some 'Malignant ovarian sex cord-stromal tumor' + 'Ovarian malignant Sertoli-Leydig cell tumor' SubClassOf 'disease' + 'Ovarian malignant Sertoli-Leydig cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant ovarian sex cord-stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_99915 Label: Granulosa cell malignant tumor - 'Granulosa cell malignant tumor' SubClassOf 'disease' - 'Granulosa cell malignant tumor' SubClassOf 'part_of' some 'Malignant ovarian sex cord-stromal tumor' + 'Granulosa cell malignant tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant ovarian sex cord-stromal tumor' + 'Granulosa cell malignant tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_238699 Label: Transient congenital hypothyroidism due to neonatal factor - 'Transient congenital hypothyroidism due to neonatal factor' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism due to neonatal factor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99918 Label: Streptococcal toxic-shock syndrome - 'Streptococcal toxic-shock syndrome' SubClassOf 'part_of' some 'Bacterial toxic-shock syndrome' - 'Streptococcal toxic-shock syndrome' SubClassOf 'etiological subtype' + 'Streptococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bacterial toxic-shock syndrome' + 'Streptococcal toxic-shock syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_31740 Label: Hypersensitivity pneumonitis - 'Hypersensitivity pneumonitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypersensitivity pneumonitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypersensitivity pneumonitis' SubClassOf 'group of disorders' - 'Hypersensitivity pneumonitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Hypersensitivity pneumonitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hypersensitivity pneumonitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypersensitivity pneumonitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypersensitivity pneumonitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99917 Label: Theca steroid-producing cell malignant tumor, not further specified - 'Theca steroid-producing cell malignant tumor, not further specified' SubClassOf 'disease' - 'Theca steroid-producing cell malignant tumor, not further specified' SubClassOf 'part_of' some 'Malignant ovarian sex cord-stromal tumor' + 'Theca steroid-producing cell malignant tumor, not further specified' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant ovarian sex cord-stromal tumor' + 'Theca steroid-producing cell malignant tumor, not further specified' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_60041 Label: Congenital heart block - 'Congenital heart block' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital heart block' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Congenital heart block' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital heart block' SubClassOf 'disease' + 'Congenital heart block' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital heart block' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Congenital heart block' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital heart block' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital heart block' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital heart block' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159950 Label: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) - 'transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)' SubClassOf 'gene' - 'transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-oculo-facial syndrome' + 'transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-oculo-facial syndrome' + 'transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263297 Label: Glycogen storage disease due to glycogenin deficiency - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121185 Label: desmocollin 2 - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'desmocollin 2' SubClassOf 'gene' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmocollin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'desmocollin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_60040 Label: Megalencephaly-capillary malformation-polymicrogyria syndrome - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'malformation syndrome' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168583 Label: Hereditary North American Indian childhood cirrhosis - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'disease' - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'disease' + 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary North American Indian childhood cirrhosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Hereditary North American Indian childhood cirrhosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary North American Indian childhood cirrhosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_238691 Label: Congenital liver hemangioma - 'Congenital liver hemangioma' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to neonatal factor' - 'Congenital liver hemangioma' SubClassOf 'disease' - 'Congenital liver hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital liver hemangioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Congenital liver hemangioma' SubClassOf 'disease' + 'Congenital liver hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital liver hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to neonatal factor' + 'Congenital liver hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital liver hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_364803 Label: Rare bone disease related to a common gene or pathway defect - 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'group of disorders' + 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99920 Label: Acute graft versus host disease - 'Acute graft versus host disease' SubClassOf 'part_of' some 'Graft versus host disease' - 'Acute graft versus host disease' SubClassOf 'clinical subtype' + 'Acute graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Graft versus host disease' + 'Acute graft versus host disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121181 Label: dopamine receptor D5 - 'dopamine receptor D5' SubClassOf 'Major susceptibility factor in' some 'Benign essential blepharospasm' - 'dopamine receptor D5' SubClassOf 'gene' - 'dopamine receptor D5' SubClassOf 'Major susceptibility factor in' some 'Autosomal dominant cervical dystonia' + 'dopamine receptor D5' SubClassOf 'Major susceptibility factor in' some 'Benign essential blepharospasm' + 'dopamine receptor D5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dopamine receptor D5' SubClassOf 'Major susceptibility factor in' some 'Autosomal dominant cervical dystonia' + 'dopamine receptor D5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99921 Label: Chronic graft versus host disease - 'Chronic graft versus host disease' SubClassOf 'part_of' some 'Graft versus host disease' - 'Chronic graft versus host disease' SubClassOf 'clinical subtype' + 'Chronic graft versus host disease' SubClassOf 'clinical subtype' + 'Chronic graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Graft versus host disease' Class: http://www.orpha.net/ORDO/Orphanet_402035 Label: Eosinophilic colitis - 'Eosinophilic colitis' SubClassOf 'disease' - 'Eosinophilic colitis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic colitis' SubClassOf 'disease' + 'Eosinophilic colitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary eosinophilic gastrointestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_159959 Label: transmembrane protein 114 - 'transmembrane protein 114' SubClassOf 'gene' - 'transmembrane protein 114' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' Class: http://www.orpha.net/ORDO/Orphanet_168588 Label: Hyperandrogenism due to cortisone reductase deficiency - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle of genetic origin' - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'part_of' some 'Adrenogenital syndrome' - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'malformation syndrome' - 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenogenital syndrome' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle of genetic origin' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'malformation syndrome' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle' Class: http://www.orpha.net/ORDO/Orphanet_309015 Label: Familial lipoprotein lipase deficiency - 'Familial lipoprotein lipase deficiency' SubClassOf 'clinical subtype' - 'Familial lipoprotein lipase deficiency' SubClassOf 'part_of' some 'Hyperlipoproteinemia type 1' + 'Familial lipoprotein lipase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial lipoprotein lipase deficiency' SubClassOf 'clinical subtype' + 'Familial lipoprotein lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperlipoproteinemia type 1' Class: http://www.orpha.net/ORDO/Orphanet_159955 Label: ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa - 'ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa' SubClassOf 'gene' - 'ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_155867 Label: Paramedian facial cleft - 'Paramedian facial cleft' SubClassOf 'group of disorders' + 'Paramedian facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121189 Label: desmoglein 1 - 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' - 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diffuse palmoplantar keratoderma with painful fissures' - 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' - 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal palmoplantar keratoderma with joint keratoses' - 'desmoglein 1' SubClassOf 'gene' + 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' + 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diffuse palmoplantar keratoderma with painful fissures' + 'desmoglein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmoglein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'desmoglein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal palmoplantar keratoderma with joint keratoses' + 'desmoglein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99909 Label: Occupational allergic alveolitis - 'Occupational allergic alveolitis' SubClassOf 'group of disorders' + 'Occupational allergic alveolitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99908 Label: Pigeon-breeder lung disease - 'Pigeon-breeder lung disease' SubClassOf 'part_of' some 'Occupational allergic alveolitis' - 'Pigeon-breeder lung disease' SubClassOf 'disease' + 'Pigeon-breeder lung disease' SubClassOf 'disease' + 'Pigeon-breeder lung disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Occupational allergic alveolitis' Class: http://www.orpha.net/ORDO/Orphanet_369950 Label: Intellectual disability-seizures-macrocephaly-obesity syndrome - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'disease' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'disease' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_390756 Label: eukaryotic translation initiation factor 4A3 - 'eukaryotic translation initiation factor 4A3' SubClassOf 'gene' - 'eukaryotic translation initiation factor 4A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Richieri Costa-Pereira syndrome' + 'eukaryotic translation initiation factor 4A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 4A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Richieri Costa-Pereira syndrome' + 'eukaryotic translation initiation factor 4A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_402041 Label: Autosomal recessive distal renal tubular acidosis - 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'disease' + 'Autosomal recessive distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309028 Label: Disorder of lipid absorption and transport - 'Disorder of lipid absorption and transport' SubClassOf 'group of disorders' + 'Disorder of lipid absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99903 Label: Spirillary rat-bite fever - 'Spirillary rat-bite fever' SubClassOf 'etiological subtype' - 'Spirillary rat-bite fever' SubClassOf 'part_of' some 'Rat-bite fever' - 'Spirillary rat-bite fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Spirillary rat-bite fever' SubClassOf 'etiological subtype' + 'Spirillary rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rat-bite fever' Class: http://www.orpha.net/ORDO/Orphanet_391804 Label: phosphodiesterase 6D, cGMP-specific, rod, delta - 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf 'gene' - 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35-q36"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome with orofaciodigital defect' Class: http://www.orpha.net/ORDO/Orphanet_99901 Label: Acyl-CoA dehydrogenase 9 deficiency - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'part_of' some 'Exercise intolerance with lactic acidosis' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disease' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exercise intolerance with lactic acidosis' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disease' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_99900 Label: Long chain acyl-CoA dehydrogenase deficiency - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Metabolic disease due to other fatty acid oxidation disorder' - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease due to other fatty acid oxidation disorder' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_369955 Label: Methylmalonic acidemia with homocystinuria, type cblJ - 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'part_of' some 'Methylmalonic acidemia with homocystinuria' - 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia with homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_99907 Label: House allergic alveolitis - 'House allergic alveolitis' SubClassOf 'disease' - 'House allergic alveolitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis' + 'House allergic alveolitis' SubClassOf 'disease' + 'House allergic alveolitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_99906 Label: Farmer's lung disease - 'Farmer's lung disease' SubClassOf 'disease' - 'Farmer's lung disease' SubClassOf 'part_of' some 'Occupational allergic alveolitis' + 'Farmer's lung disease' SubClassOf 'disease' + 'Farmer's lung disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Occupational allergic alveolitis' Class: http://www.orpha.net/ORDO/Orphanet_99905 Label: Streptobacillary rat-bite fever - 'Streptobacillary rat-bite fever' SubClassOf 'etiological subtype' - 'Streptobacillary rat-bite fever' SubClassOf 'part_of' some 'Rat-bite fever' - 'Streptobacillary rat-bite fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Streptobacillary rat-bite fever' SubClassOf 'etiological subtype' + 'Streptobacillary rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rat-bite fever' Class: http://www.orpha.net/ORDO/Orphanet_121174 Label: dihydropyrimidinase - 'dihydropyrimidinase' SubClassOf 'gene' - 'dihydropyrimidinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropyrimidinuria' + 'dihydropyrimidinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropyrimidinuria' + 'dihydropyrimidinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22"^^http://www.w3.org/2001/XMLSchema#string + 'dihydropyrimidinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_168593 Label: Sudden infant death - dysgenesis of the testes - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'malformation syndrome' - 'Sudden infant death - dysgenesis of the testes' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Sudden infant death - dysgenesis of the testes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Sudden infant death - dysgenesis of the testes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sudden infant death - dysgenesis of the testes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sudden infant death - dysgenesis of the testes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sudden infant death - dysgenesis of the testes' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121171 Label: dihydropyrimidine dehydrogenase - 'dihydropyrimidine dehydrogenase' SubClassOf 'Role in the phenotype of' some '1p21.3 microdeletion syndrome' - 'dihydropyrimidine dehydrogenase' SubClassOf 'gene' - 'dihydropyrimidine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropyrimidine dehydrogenase deficiency' + 'dihydropyrimidine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'dihydropyrimidine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dihydropyrimidine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22"^^http://www.w3.org/2001/XMLSchema#string + 'dihydropyrimidine dehydrogenase' SubClassOf 'Role in the phenotype of' some '1p21.3 microdeletion syndrome' + 'dihydropyrimidine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropyrimidine dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_309025 Label: Mevalonate kinase deficiency - 'Mevalonate kinase deficiency' SubClassOf 'group of disorders' + 'Mevalonate kinase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168598 Label: Brain demyelination due to methionine adenosyltransferase deficiency - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'disease' - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'disease' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79507 Label: Hypotonia - failure to thrive - microcephaly - 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'disease' - 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'part_of' some 'Other metabolic disease' + 'Hypotonia - failure to thrive - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79506 Label: Cholesterol-ester transfer protein deficiency - 'Cholesterol-ester transfer protein deficiency' SubClassOf 'part_of' some 'Hyperalphalipoproteinemia' - 'Cholesterol-ester transfer protein deficiency' SubClassOf 'disease' + 'Cholesterol-ester transfer protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperalphalipoproteinemia' + 'Cholesterol-ester transfer protein deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121177 Label: dopamine receptor D2 - 'dopamine receptor D2' SubClassOf 'Candidate gene tested in' some 'Myoclonus-dystonia syndrome' - 'dopamine receptor D2' SubClassOf 'gene' + 'dopamine receptor D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'dopamine receptor D2' SubClassOf 'Candidate gene tested in' some 'Myoclonus-dystonia syndrome' + 'dopamine receptor D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_309020 Label: Familial apolipoprotein C-II deficiency - 'Familial apolipoprotein C-II deficiency' SubClassOf 'clinical subtype' - 'Familial apolipoprotein C-II deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial apolipoprotein C-II deficiency' SubClassOf 'part_of' some 'Hyperlipoproteinemia type 1' + 'Familial apolipoprotein C-II deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial apolipoprotein C-II deficiency' SubClassOf 'clinical subtype' + 'Familial apolipoprotein C-II deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperlipoproteinemia type 1' Class: http://www.orpha.net/ORDO/Orphanet_781 Label: Q fever - 'Q fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Q fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Q fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Q fever' SubClassOf 'disease' + 'Q fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Q fever' SubClassOf 'disease' + 'Q fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Q fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Q fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Q fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_780 Label: Rhabdomyosarcoma - 'Rhabdomyosarcoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rhabdomyosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Rhabdomyosarcoma' SubClassOf 'part_of' some 'Muscular tumor' - 'Rhabdomyosarcoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Rhabdomyosarcoma' SubClassOf 'disease' - 'Rhabdomyosarcoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Rhabdomyosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular tumor' + 'Rhabdomyosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Rhabdomyosarcoma' SubClassOf 'disease' + 'Rhabdomyosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_390746 Label: BBSome interacting protein 1 - 'BBSome interacting protein 1' SubClassOf 'gene' - 'BBSome interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'BBSome interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'BBSome interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BBSome interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_390741 Label: centrosome and spindle pole associated protein 1 - 'centrosome and spindle pole associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' - 'centrosome and spindle pole associated protein 1' SubClassOf 'gene' - 'centrosome and spindle pole associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'centrosome and spindle pole associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' + 'centrosome and spindle pole associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'centrosome and spindle pole associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Joubert syndrome' + 'centrosome and spindle pole associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_321640 Label: solute carrier family 52 (riboflavin transporter), member 1 - 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'gene' - 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99938 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2D - 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99937 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2C - 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_786 Label: Glucocorticoid resistance - 'Glucocorticoid resistance' SubClassOf 'disease' - 'Glucocorticoid resistance' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glucocorticoid resistance' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Glucocorticoid resistance' SubClassOf 'has_prevalence' some 'Unknown' - 'Glucocorticoid resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glucocorticoid resistance' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glucocorticoid resistance' SubClassOf 'part_of' some 'Adrenogenital syndrome' + 'Glucocorticoid resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glucocorticoid resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glucocorticoid resistance' SubClassOf 'disease' + 'Glucocorticoid resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenogenital syndrome' + 'Glucocorticoid resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glucocorticoid resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' Class: http://www.orpha.net/ORDO/Orphanet_406394 Label: solute carrier family 2 (facilitated glucose transporter), member 3 - 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf 'Modifying germline mutation in' some 'Huntington disease' - 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf 'gene' + 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf 'Modifying germline mutation in' some 'Huntington disease' + 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139573 Label: Hereditary sensory and autonomic neuropathy with deafness and global delay - 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'disease' - 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99939 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2E - 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99934 Label: Pleuropulmonary blastoma type 2 - 'Pleuropulmonary blastoma type 2' SubClassOf 'clinical subtype' - 'Pleuropulmonary blastoma type 2' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma type 2' SubClassOf 'clinical subtype' + 'Pleuropulmonary blastoma type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_783 Label: Rubinstein-Taybi syndrome - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Rubinstein-Taybi syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Rubinstein-Taybi syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Rubinstein-Taybi syndrome' SubClassOf 'malformation syndrome' - 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Rubinstein-Taybi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Rubinstein-Taybi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Rubinstein-Taybi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + 'Rubinstein-Taybi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Rubinstein-Taybi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Rubinstein-Taybi syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99933 Label: Pleuropulmonary blastoma type 1 - 'Pleuropulmonary blastoma type 1' SubClassOf 'clinical subtype' - 'Pleuropulmonary blastoma type 1' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma type 1' SubClassOf 'clinical subtype' + 'Pleuropulmonary blastoma type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_782 Label: Axenfeld-Rieger syndrome - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Axenfeld-Rieger syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Iridogoniodysgenesis' - 'Axenfeld-Rieger syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Axenfeld-Rieger syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Axenfeld-Rieger syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Axenfeld-Rieger syndrome' SubClassOf 'malformation syndrome' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridogoniodysgenesis' + 'Axenfeld-Rieger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Axenfeld-Rieger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Axenfeld-Rieger syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Axenfeld-Rieger syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Axenfeld-Rieger syndrome' SubClassOf 'malformation syndrome' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_139578 Label: Hereditary sensory and autonomic neuropathy with spastic paraplegia - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'disease' - 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99936 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2B - 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_60015 Label: Parietal foramina - 'Parietal foramina' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Parietal foramina' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parietal foramina' SubClassOf 'malformation syndrome' - 'Parietal foramina' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Parietal foramina' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parietal foramina' SubClassOf 'part_of' some 'Cranial malformation' - 'Parietal foramina' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Parietal foramina' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Parietal foramina' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Parietal foramina' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Parietal foramina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Parietal foramina' SubClassOf 'malformation syndrome' + 'Parietal foramina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Parietal foramina' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Parietal foramina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Parietal foramina' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99935 Label: Pleuropulmonary blastoma type 3 - 'Pleuropulmonary blastoma type 3' SubClassOf 'clinical subtype' - 'Pleuropulmonary blastoma type 3' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma type 3' SubClassOf 'clinical subtype' + 'Pleuropulmonary blastoma type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_60014 Label: Argyria - 'Argyria' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Argyria' SubClassOf 'has_inheritance' some 'sporadic' - 'Argyria' SubClassOf 'has_prevalence' some 'Unknown' - 'Argyria' SubClassOf 'disease' - 'Argyria' SubClassOf 'part_of' some 'Rare intoxication' + 'Argyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Argyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Argyria' SubClassOf 'disease' + 'Argyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_99940 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2F - 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99941 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2G - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_238670 Label: Isolated thyrotropin-releasing hormone deficiency - 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'disease' - 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'disease' + 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_99942 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2I - 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_168563 Label: 46,XY gonadal dysgenesis - motor and sensory neuropathy - '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'malformation syndrome' + '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'malformation syndrome' + '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99943 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2J - 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_779 Label: Reynolds syndrome - 'Reynolds syndrome' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' - 'Reynolds syndrome' SubClassOf 'disease' - 'Reynolds syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Reynolds syndrome' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Reynolds syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Reynolds syndrome' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Reynolds syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Reynolds syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Reynolds syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease' + 'Reynolds syndrome' SubClassOf 'disease' + 'Reynolds syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Reynolds syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_168569 Label: H syndrome - 'H syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'H syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'H syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'H syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'H syndrome' SubClassOf 'malformation syndrome' - 'H syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' + 'H syndrome' SubClassOf 'malformation syndrome' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'H syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'H syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'H syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_158401 Label: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 - 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1' SubClassOf 'Major susceptibility factor in' some 'Tuberculosis' - 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1' SubClassOf 'gene' + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1' SubClassOf 'Major susceptibility factor in' some 'Tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_155889 Label: Coloboma of inferior eyelid - 'Coloboma of inferior eyelid' SubClassOf 'morphological anomaly' - 'Coloboma of inferior eyelid' SubClassOf 'part_of' some 'Oblique facial cleft' + 'Coloboma of inferior eyelid' SubClassOf 'morphological anomaly' + 'Coloboma of inferior eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_83593 Label: Western equine encephalitis - 'Western equine encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Western equine encephalitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Western equine encephalitis' SubClassOf 'disease' - 'Western equine encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Western equine encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Western equine encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' + 'Western equine encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Western equine encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Western equine encephalitis' SubClassOf 'disease' + 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Western equine encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Western equine encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_169615 Label: Idiopathic central precocious puberty - 'Idiopathic central precocious puberty' SubClassOf 'etiological subtype' - 'Idiopathic central precocious puberty' SubClassOf 'part_of' some 'Central precocious puberty' + 'Idiopathic central precocious puberty' SubClassOf 'etiological subtype' + 'Idiopathic central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_159931 Label: interleukin 1 receptor accessory protein-like 1 - 'interleukin 1 receptor accessory protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'interleukin 1 receptor accessory protein-like 1' SubClassOf 'gene' + 'interleukin 1 receptor accessory protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'interleukin 1 receptor accessory protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 1 receptor accessory protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1-p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83595 Label: Colorado tick fever - 'Colorado tick fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Colorado tick fever' SubClassOf 'disease' - 'Colorado tick fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Colorado tick fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Colorado tick fever' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Colorado tick fever' SubClassOf 'part_of' some 'Infectious disease with epilepsy' + 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Colorado tick fever' SubClassOf 'disease' + 'Colorado tick fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Colorado tick fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_159936 Label: oligophrenin 1 - 'oligophrenin 1' SubClassOf 'gene' - 'oligophrenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - cerebellar hypoplasia' + 'oligophrenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'oligophrenin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12"^^http://www.w3.org/2001/XMLSchema#string + 'oligophrenin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_155884 Label: Coloboma of superior eyelid - 'Coloboma of superior eyelid' SubClassOf 'part_of' some 'Oblique facial cleft' - 'Coloboma of superior eyelid' SubClassOf 'morphological anomaly' + 'Coloboma of superior eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' + 'Coloboma of superior eyelid' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_83594 Label: Eastern equine encephalitis - 'Eastern equine encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Eastern equine encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Eastern equine encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Eastern equine encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Eastern equine encephalitis' SubClassOf 'disease' - 'Eastern equine encephalitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Eastern equine encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eastern equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Eastern equine encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Eastern equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Eastern equine encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eastern equine encephalitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_403187 Label: spinocerebellar ataxia 32 - 'spinocerebellar ataxia 32' SubClassOf 'gene' - 'spinocerebellar ataxia 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 32' + 'spinocerebellar ataxia 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 32' + 'spinocerebellar ataxia 32' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32-q33"^^http://www.w3.org/2001/XMLSchema#string + 'spinocerebellar ataxia 32' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_168566 Label: Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 - 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'disease' - 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'disease' + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_83597 Label: Acute disseminated encephalomyelitis - 'Acute disseminated encephalomyelitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute disseminated encephalomyelitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Acute disseminated encephalomyelitis' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Acute disseminated encephalomyelitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute disseminated encephalomyelitis' SubClassOf 'part_of' some 'Multiple sclerosis variant' - 'Acute disseminated encephalomyelitis' SubClassOf 'disease' - 'Acute disseminated encephalomyelitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Acute disseminated encephalomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute disseminated encephalomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute disseminated encephalomyelitis' SubClassOf 'disease' + 'Acute disseminated encephalomyelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_158407 Label: solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 - 'solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' SubClassOf 'gene' - 'solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiomyopathy - hypotonia - lactic acidosis' + 'solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiomyopathy - hypotonia - lactic acidosis' Class: http://www.orpha.net/ORDO/Orphanet_792 Label: X-linked retinoschisis - 'X-linked retinoschisis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked retinoschisis' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'X-linked retinoschisis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'X-linked retinoschisis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked retinoschisis' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'X-linked retinoschisis' SubClassOf 'malformation syndrome' - 'X-linked retinoschisis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'X-linked retinoschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'X-linked retinoschisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'X-linked retinoschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked retinoschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'X-linked retinoschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked retinoschisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked retinoschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked retinoschisis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_791 Label: Retinitis pigmentosa - 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Retinitis pigmentosa' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retinitis pigmentosa' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Retinitis pigmentosa' SubClassOf 'disease' + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "22.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retinitis 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http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' + 'Retinoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinoblastoma' SubClassOf 'disease' + 'Retinoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinoblastoma' SubClassOf 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(http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Retinoblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_309005 Label: Disorder of lipid metabolism - 'Disorder of lipid metabolism' SubClassOf 'group of disorders' + 'Disorder of lipid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169618 Label: Secondary central precocious puberty - 'Secondary central precocious puberty' SubClassOf 'etiological subtype' - 'Secondary central precocious puberty' SubClassOf 'part_of' some 'Central precocious puberty' + 'Secondary central precocious puberty' SubClassOf 'etiological subtype' + 'Secondary central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_369970 Label: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'disease' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'disease' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic developmental defect of the eye' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324364 Label: Mixed sclerosing bone dystrophy with extra-skeletal manifestations - 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'disease' + 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_292052 Label: homeobox B13 - 'homeobox B13' SubClassOf 'gene' - 'homeobox B13' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'homeobox B13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homeobox B13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox B13' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_99928 Label: Placental site trophoblastic tumor - 'Placental site trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Placental site trophoblastic tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Placental site trophoblastic tumor' SubClassOf 'part_of' some 'Gestational trophoblastic neoplasm' - 'Placental site trophoblastic tumor' SubClassOf 'disease' - 'Placental site trophoblastic tumor' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Placental site trophoblastic tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.86"^^http://www.w3.org/2001/XMLSchema#string) + 'Placental site trophoblastic tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Placental site trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic neoplasm' + 'Placental site trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Placental site trophoblastic tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Placental site trophoblastic tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Placental site trophoblastic tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_799 Label: Schizencephaly - 'Schizencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Schizencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schizencephaly' SubClassOf 'part_of' some 'Encephaloclastic disorder' - 'Schizencephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schizencephaly' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Schizencephaly' SubClassOf 'disease' - 'Schizencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Schizencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephaloclastic disorder' + 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Schizencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Schizencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schizencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Schizencephaly' SubClassOf 'disease' + 'Schizencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Schizencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.48"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_369979 Label: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'malformation syndrome' - 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'malformation syndrome' + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_139583 Label: X-linked hereditary sensory and autonomic neuropathy with deafness - 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'disease' - 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'part_of' some 'Hereditary sensory and autonomic neuropathy' - 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'disease' + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary sensory and autonomic neuropathy' + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99927 Label: Hydatidiform mole - 'Hydatidiform mole' SubClassOf 'has_inheritance' some 'sporadic' - 'Hydatidiform mole' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hydatidiform mole' SubClassOf 'has_prevalence' some 'Unknown' - 'Hydatidiform mole' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hydatidiform mole' SubClassOf 'part_of' some 'Gestational trophoblastic disease' - 'Hydatidiform mole' SubClassOf 'disease' + 'Hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic disease' + 'Hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hydatidiform mole' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hydatidiform mole' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_798 Label: Schinzel-Giedion syndrome - 'Schinzel-Giedion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Schinzel-Giedion syndrome' SubClassOf 'malformation syndrome' - 'Schinzel-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Schinzel-Giedion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Schinzel-Giedion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Schinzel-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schinzel-Giedion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schinzel-Giedion syndrome' SubClassOf 'malformation syndrome' + 'Schinzel-Giedion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Schinzel-Giedion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_99926 Label: Gestational choriocarcinoma - 'Gestational choriocarcinoma' SubClassOf 'disease' - 'Gestational choriocarcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Gestational choriocarcinoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Gestational choriocarcinoma' SubClassOf 'part_of' some 'Gestational trophoblastic neoplasm' - 'Gestational choriocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gestational choriocarcinoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Gestational choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Gestational choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic neoplasm' + 'Gestational choriocarcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gestational choriocarcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gestational choriocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_797 Label: Sarcoidosis - 'Sarcoidosis' SubClassOf 'part_of' some 'Systemic diseases with posterior uveitis' - 'Sarcoidosis' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' - 'Sarcoidosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Sarcoidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Sarcoidosis' SubClassOf 'disease' - 'Sarcoidosis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' - 'Sarcoidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sarcoidosis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Sarcoidosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Sarcoidosis' SubClassOf 'part_of' some 'Rare systemic disease' - 'Sarcoidosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' - 'Sarcoidosis' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Sarcoidosis' SubClassOf 'part_of' some 'Granulomatous myositis' - 'Sarcoidosis' SubClassOf 'part_of' some 'Systemic diseases with panuveitis' - 'Sarcoidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Sarcoidosis' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous myositis' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with panuveitis' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "63.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with posterior uveitis' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' + 'Sarcoidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf 'disease' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.89"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.125"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Sarcoidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_238688 Label: Neonatal iodine exposure - 'Neonatal iodine exposure' SubClassOf 'has_inheritance' some 'sporadic' - 'Neonatal iodine exposure' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to neonatal factor' - 'Neonatal iodine exposure' SubClassOf 'disease' - 'Neonatal iodine exposure' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neonatal iodine exposure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to neonatal factor' + 'Neonatal iodine exposure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal iodine exposure' SubClassOf 'disease' + 'Neonatal iodine exposure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neonatal iodine exposure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99925 Label: Invasive mole - 'Invasive mole' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Invasive mole' SubClassOf 'has_prevalence' some 'Unknown' - 'Invasive mole' SubClassOf 'disease' - 'Invasive mole' SubClassOf 'part_of' some 'Gestational trophoblastic neoplasm' - 'Invasive mole' SubClassOf 'has_inheritance' some 'sporadic' + 'Invasive mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Invasive mole' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Invasive mole' SubClassOf 'disease' + 'Invasive mole' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_796 Label: Sandhoff disease - 'Sandhoff disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sandhoff disease' SubClassOf 'disease' - 'Sandhoff disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Sandhoff disease' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Sandhoff disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sandhoff disease' SubClassOf 'part_of' some 'GM2 gangliosidosis' - 'Sandhoff disease' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Sandhoff disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sandhoff disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Sandhoff disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sandhoff disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Sandhoff disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.49"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM2 gangliosidosis' + 'Sandhoff disease' SubClassOf 'disease' + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Sandhoff disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Sandhoff disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_60026 Label: Pulmonary nodular lymphoid hyperplasia - 'Pulmonary nodular lymphoid hyperplasia' SubClassOf 'disease' - 'Pulmonary nodular lymphoid hyperplasia' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Pulmonary nodular lymphoid hyperplasia' SubClassOf 'disease' + 'Pulmonary nodular lymphoid hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_795 Label: Rare form of salmonellosis - 'Rare form of salmonellosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Rare form of salmonellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rare form of salmonellosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Rare form of salmonellosis' SubClassOf 'group of disorders' + 'Rare form of salmonellosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rare form of salmonellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rare form of salmonellosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rare form of salmonellosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_60025 Label: Pulmonary alveolar microlithiasis - 'Pulmonary alveolar microlithiasis' SubClassOf 'disease' - 'Pulmonary alveolar microlithiasis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pulmonary alveolar microlithiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pulmonary alveolar microlithiasis' SubClassOf 'part_of' some 'Rare respiratory disease' - 'Pulmonary alveolar microlithiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary alveolar microlithiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary alveolar microlithiasis' SubClassOf 'part_of' some 'Rare genetic respiratory disease' + 'Pulmonary alveolar microlithiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary alveolar microlithiasis' SubClassOf 'disease' + 'Pulmonary alveolar microlithiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pulmonary alveolar microlithiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' + 'Pulmonary alveolar microlithiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Pulmonary alveolar microlithiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_794 Label: Saethre-Chotzen syndrome - 'Saethre-Chotzen syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Saethre-Chotzen syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Saethre-Chotzen syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Saethre-Chotzen syndrome' SubClassOf 'part_of' some 'Acrocephalosyndactyly' - 'Saethre-Chotzen syndrome' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Saethre-Chotzen syndrome' SubClassOf 'malformation syndrome' - 'Saethre-Chotzen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Saethre-Chotzen syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrocephalosyndactyly' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Saethre-Chotzen syndrome' SubClassOf 'malformation syndrome' + 'Saethre-Chotzen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Saethre-Chotzen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Saethre-Chotzen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Saethre-Chotzen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99922 Label: Ocular pemphigoid - 'Ocular pemphigoid' SubClassOf 'part_of' some 'Rare inflammatory eye disease' - 'Ocular pemphigoid' SubClassOf 'disease' + 'Ocular pemphigoid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' + 'Ocular pemphigoid' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_793 Label: SAPHO syndrome - 'SAPHO syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'SAPHO syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'SAPHO syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'SAPHO syndrome' SubClassOf 'disease' + 'SAPHO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'SAPHO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'SAPHO syndrome' SubClassOf 'disease' + 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139589 Label: Distal hereditary motor neuropathy type 7 - 'Distal hereditary motor neuropathy type 7' SubClassOf 'disease' - 'Distal hereditary motor neuropathy type 7' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' - 'Distal hereditary motor neuropathy type 7' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Distal hereditary motor neuropathy type 7' SubClassOf 'disease' + 'Distal hereditary motor neuropathy type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Distal hereditary motor neuropathy type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99931 Label: Idiopathic pulmonary hemosiderosis - 'Idiopathic pulmonary hemosiderosis' SubClassOf 'disease' - 'Idiopathic pulmonary hemosiderosis' SubClassOf 'part_of' some 'Primary interstitial lung disease in childhood and adulthood' - 'Idiopathic pulmonary hemosiderosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic pulmonary hemosiderosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Idiopathic pulmonary hemosiderosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic pulmonary hemosiderosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease in childhood and adulthood' + 'Idiopathic pulmonary hemosiderosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary hemosiderosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_60032 Label: Recurrent respiratory papillomatosis - 'Recurrent respiratory papillomatosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Recurrent respiratory papillomatosis' SubClassOf 'disease' + 'Recurrent respiratory papillomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Recurrent respiratory papillomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99932 Label: Heiner syndrome - 'Heiner syndrome' SubClassOf 'part_of' some 'Secondary pulmonary hemosiderosis' - 'Heiner syndrome' SubClassOf 'clinical subtype' + 'Heiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary pulmonary hemosiderosis' + 'Heiner syndrome' SubClassOf 'clinical subtype' + 'Heiner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_60033 Label: Idiopathic bronchiectasis - 'Idiopathic bronchiectasis' SubClassOf 'disease' - 'Idiopathic bronchiectasis' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Idiopathic bronchiectasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic bronchiectasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Idiopathic bronchiectasis' SubClassOf 'disease' + 'Idiopathic bronchiectasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168572 Label: Native American myopathy - 'Native American myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Native American myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Native American myopathy' SubClassOf 'malformation syndrome' - 'Native American myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Native American myopathy' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Native American myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Native American myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Native American myopathy' SubClassOf 'malformation syndrome' + 'Native American myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Native American myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Native American myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99930 Label: Secondary pulmonary hemosiderosis - 'Secondary pulmonary hemosiderosis' SubClassOf 'disease' - 'Secondary pulmonary hemosiderosis' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood' + 'Secondary pulmonary hemosiderosis' SubClassOf 'disease' + 'Secondary pulmonary hemosiderosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood' Class: http://www.orpha.net/ORDO/Orphanet_121193 Label: desmoglein 2 - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'desmoglein 2' SubClassOf 'gene' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmoglein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'desmoglein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121196 Label: desmoplakin - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal acantholytic epidermolysis bullosa' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' - 'desmoplakin' SubClassOf 'gene' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmoplakin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'desmoplakin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' + 'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal acantholytic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_158410 Label: solute carrier family 2 (facilitated glucose transporter), member 1 - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to GLUT1 deficiency' - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'gene' - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cryohydrocytosis with reduced stomatin' - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to GLUT1 deficiency' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cryohydrocytosis with reduced stomatin' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_60030 Label: Loeys-Dietz syndrome - 'Loeys-Dietz syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Loeys-Dietz syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Loeys-Dietz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Loeys-Dietz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Loeys-Dietz syndrome' SubClassOf 'malformation syndrome' - 'Loeys-Dietz syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Loeys-Dietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Loeys-Dietz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Loeys-Dietz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Loeys-Dietz syndrome' SubClassOf 'malformation syndrome' + 'Loeys-Dietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_158415 Label: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 - 'solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6' SubClassOf 'gene' - 'solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Christianson syndrome' + 'solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Christianson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159942 Label: p21 protein (Cdc42/Rac)-activated kinase 3 - 'p21 protein (Cdc42/Rac)-activated kinase 3' SubClassOf 'gene' - 'p21 protein (Cdc42/Rac)-activated kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'p21 protein (Cdc42/Rac)-activated kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'p21 protein (Cdc42/Rac)-activated kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3"^^http://www.w3.org/2001/XMLSchema#string + 'p21 protein (Cdc42/Rac)-activated kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_158412 Label: solute carrier family 6 (neurotransmitter transporter), member 5 - 'solute carrier family 6 (neurotransmitter transporter), member 5' SubClassOf 'gene' - 'solute carrier family 6 (neurotransmitter transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'solute carrier family 6 (neurotransmitter transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 6 (neurotransmitter transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'solute carrier family 6 (neurotransmitter transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_155878 Label: Submucosal cleft palate - 'Submucosal cleft palate' SubClassOf 'part_of' some 'Cleft palate' - 'Submucosal cleft palate' SubClassOf 'clinical subtype' + 'Submucosal cleft palate' SubClassOf 'clinical subtype' + 'Submucosal cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_31709 Label: Infantile convulsions and choreoathetosis - 'Infantile convulsions and choreoathetosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Infantile convulsions and choreoathetosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Infantile convulsions and choreoathetosis' SubClassOf 'disease' - 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Infantile convulsions and choreoathetosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Infantile convulsions and choreoathetosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' + 'Infantile convulsions and choreoathetosis' SubClassOf 'disease' + 'Infantile convulsions and choreoathetosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile convulsions and choreoathetosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_159945 Label: tumor suppressor candidate 3 - 'tumor suppressor candidate 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'tumor suppressor candidate 3' SubClassOf 'gene' + 'tumor suppressor candidate 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'tumor suppressor candidate 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor suppressor candidate 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_309001 Label: Disorder of carbohydrate absorption and transport - 'Disorder of carbohydrate absorption and transport' SubClassOf 'group of disorders' + 'Disorder of carbohydrate absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168577 Label: Hereditary cryohydrocytosis with reduced stomatin - 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'disease' - 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99955 Label: Charcot-Marie-Tooth disease type 4B1 - 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_760 Label: Purine nucleoside phosphorylase deficiency - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'disease' - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Purine nucleoside phosphorylase deficiency' SubClassOf 'disease' + 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Purine nucleoside phosphorylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99956 Label: Charcot-Marie-Tooth disease type 4B2 - 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'has_prevalence' some 'Unknown' - 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4B2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_761 Label: Immunoglobulin A vasculitis - 'Immunoglobulin A vasculitis' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' - 'Immunoglobulin A vasculitis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis' - 'Immunoglobulin A vasculitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Immunoglobulin A vasculitis' SubClassOf 'disease' - 'Immunoglobulin A vasculitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Immunoglobulin A vasculitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunoglobulin A vasculitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Immunoglobulin A vasculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Immunoglobulin A vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Immunoglobulin A vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Immunoglobulin A vasculitis' SubClassOf 'disease' + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis' + 'Immunoglobulin A vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_369920 Label: Pontocerebellar hypoplasia type 9 - 'Pontocerebellar hypoplasia type 9' SubClassOf 'disease' - 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 9' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 9' SubClassOf 'disease' + 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 9' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 9' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_763 Label: Pycnodysostosis - 'Pycnodysostosis' SubClassOf 'part_of' some 'Lysosomal disease' - 'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pycnodysostosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pycnodysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pycnodysostosis' SubClassOf 'disease' - 'Pycnodysostosis' SubClassOf 'part_of' some 'Osteopetrosis' + 'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pycnodysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pycnodysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease' + 'Pycnodysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Pycnodysostosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_764 Label: Pyomyositis - 'Pyomyositis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pyomyositis' SubClassOf 'disease' - 'Pyomyositis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Pyomyositis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyomyositis' SubClassOf 'part_of' some 'Rare systemic disease' - 'Pyomyositis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pyomyositis' SubClassOf 'disease' + 'Pyomyositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pyomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pyomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Pyomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_765 Label: Pyruvate dehydrogenase deficiency - 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Mitochondrial disease' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Pyruvate metabolism disorder' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease' + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate metabolism disorder' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease' + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_766 Label: Hemolytic anemia due to red cell pyruvate kinase deficiency - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'part_of' some 'Pyruvate metabolism disorder' - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate metabolism disorder' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.96"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_767 Label: Polyarteritis nodosa - 'Polyarteritis nodosa' SubClassOf 'disease' - 'Polyarteritis nodosa' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Polyarteritis nodosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polyarteritis nodosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Polyarteritis nodosa' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Polyarteritis nodosa' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Polyarteritis nodosa' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' - 'Polyarteritis nodosa' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Polyarteritis nodosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf 'disease' + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Polyarteritis nodosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Polyarteritis nodosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_43393 Label: Lambert-Eaton myasthenic syndrome - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'disease' - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'part_of' some 'Acquired neuromuscular junction disease' - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Lambert-Eaton myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neuromuscular junction disease' + 'Lambert-Eaton myasthenic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lambert-Eaton myasthenic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Lambert-Eaton myasthenic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lambert-Eaton myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic neurologic syndrome' + 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lambert-Eaton myasthenic syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_48918 Label: Focal myositis - 'Focal myositis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Focal myositis' SubClassOf 'disease' - 'Focal myositis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Focal myositis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal myositis' SubClassOf 'has_inheritance' some 'sporadic' + 'Focal myositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Focal myositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal myositis' SubClassOf 'disease' + 'Focal myositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Focal myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_159915 Label: small nucleolar RNA, C/D box 115 cluster - 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'gene' - 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' - 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' - 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prader-Willi syndrome due to imprinting mutation' + 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' + 'small nucleolar RNA, C/D box 115 cluster' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' + 'small nucleolar RNA, C/D box 115 cluster' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120015 Label: tectorin alpha - 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'tectorin alpha' SubClassOf 'gene' - 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'tectorin alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22-q24"^^http://www.w3.org/2001/XMLSchema#string + 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'tectorin alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_1873 Label: Jalili syndrome - 'Jalili syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Jalili syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Jalili syndrome' SubClassOf 'malformation syndrome' - 'Jalili syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Jalili syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Jalili syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Jalili syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410161) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Jalili syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Jalili syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Jalili syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Jalili syndrome' SubClassOf 'malformation syndrome' + 'Jalili syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Jalili syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1872 Label: Cone rod dystrophy - 'Cone rod dystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Cone rod dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cone rod dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cone rod dystrophy' SubClassOf 'disease' - 'Cone rod dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cone rod dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cone rod dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cone rod dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cone rod dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cone rod dystrophy' SubClassOf 'disease' + 'Cone rod dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cone rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Cone rod dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cone rod dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159912 Label: phosphoserine aminotransferase 1 - 'phosphoserine aminotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoserine aminotransferase deficiency' - 'phosphoserine aminotransferase 1' SubClassOf 'gene' + 'phosphoserine aminotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoserine aminotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoserine aminotransferase deficiency' + 'phosphoserine aminotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neu-Laxova syndrome' + 'phosphoserine aminotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1871 Label: Progressive cone dystrophy - 'Progressive cone dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Progressive cone dystrophy' SubClassOf 'disease' + 'Progressive cone dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Progressive cone dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1878 Label: Autosomal recessive limb-girdle muscular dystrophy type 2H - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'part_of' some 'Qualitative or quantitative defects of TRIM32' - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of TRIM32' + 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159910 Label: mitogen-activated protein kinase 1 - 'mitogen-activated protein kinase 1' SubClassOf 'gene' - 'mitogen-activated protein kinase 1' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' + 'mitogen-activated protein kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'mitogen-activated protein kinase 1' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121147 Label: dynamin 2 - 'dynamin 2' SubClassOf 'gene' - 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' - 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' - 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' + 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' + 'dynamin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' + 'dynamin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' + 'dynamin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1877 Label: Muscular dystrophy - white matter spongiosis - 'Muscular dystrophy - white matter spongiosis' SubClassOf 'disease' - 'Muscular dystrophy - white matter spongiosis' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' + 'Muscular dystrophy - white matter spongiosis' SubClassOf 'disease' + 'Muscular dystrophy - white matter spongiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_1876 Label: Oculogastrointestinal muscular dystrophy - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'part_of' some 'Ptosis' - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Oculogastrointestinal muscular dystrophy' SubClassOf 'disease' + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Oculogastrointestinal muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Oculogastrointestinal muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculogastrointestinal muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oculogastrointestinal muscular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1875 Label: Congenital muscular dystrophy - infantile cataract - hypogonadism - 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'disease' - 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'disease' + 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_758 Label: Pseudoxanthoma elasticum - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Genetic hypertension' - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pseudoxanthoma elasticum' SubClassOf 'disease' - 'Pseudoxanthoma elasticum' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' - 'Pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pseudoxanthoma elasticum' SubClassOf 'disease' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Pseudoxanthoma elasticum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_757 Label: Pseudohypoaldosteronism type 2 - 'Pseudohypoaldosteronism type 2' SubClassOf 'disease' - 'Pseudohypoaldosteronism type 2' SubClassOf 'part_of' some 'Genetic hypertension' - 'Pseudohypoaldosteronism type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudohypoaldosteronism type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pseudohypoaldosteronism type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pseudohypoaldosteronism type 2' SubClassOf 'disease' + 'Pseudohypoaldosteronism type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pseudohypoaldosteronism type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pseudohypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Pseudohypoaldosteronism type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_121143 Label: dynein, axonemal, intermediate chain 1 - 'dynein, axonemal, intermediate chain 1' SubClassOf 'gene' - 'dynein, axonemal, intermediate chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, intermediate chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, intermediate chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, intermediate chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_99961 Label: Benign recurrent intrahepatic cholestasis type 2 - 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'part_of' some 'Benign recurrent intrahepatic cholestasis' - 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' + 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' + 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign recurrent intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_120010 Label: TEA domain family member 1 (SV40 transcriptional enhancer factor) - 'TEA domain family member 1 (SV40 transcriptional enhancer factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Helicoid peripapillary chorioretinal degeneration' - 'TEA domain family member 1 (SV40 transcriptional enhancer factor)' SubClassOf 'gene' + 'TEA domain family member 1 (SV40 transcriptional enhancer factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TEA domain family member 1 (SV40 transcriptional enhancer factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'TEA domain family member 1 (SV40 transcriptional enhancer factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Helicoid peripapillary chorioretinal degeneration' Class: http://www.orpha.net/ORDO/Orphanet_99960 Label: Benign recurrent intrahepatic cholestasis type 1 - 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' - 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'part_of' some 'Benign recurrent intrahepatic cholestasis' + 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' + 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign recurrent intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_759 Label: Central precocious puberty - 'Central precocious puberty' SubClassOf 'disease' - 'Central precocious puberty' SubClassOf 'part_of' some 'Precocious puberty' - 'Central precocious puberty' SubClassOf 'has_inheritance' some 'sporadic' - 'Central precocious puberty' SubClassOf 'has_prevalence' some 'Unknown' - 'Central precocious puberty' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Central precocious puberty' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Central precocious puberty' SubClassOf 'disease' + 'Central precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Central precocious puberty' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Central precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central precocious puberty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precocious puberty' + 'Central precocious puberty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_364846 Label: aspartyl-tRNA synthetase - 'aspartyl-tRNA synthetase' SubClassOf 'gene' - 'aspartyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' + 'aspartyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'aspartyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' + 'aspartyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99965 Label: O'Sullivan-McLeod syndrome - 'O'Sullivan-McLeod syndrome' SubClassOf 'part_of' some 'Monomelic amyotrophy' - 'O'Sullivan-McLeod syndrome' SubClassOf 'clinical subtype' + 'O'Sullivan-McLeod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monomelic amyotrophy' + 'O'Sullivan-McLeod syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_158461 Label: succinate-CoA ligase, alpha subunit - 'succinate-CoA ligase, alpha subunit' SubClassOf 'gene' - 'succinate-CoA ligase, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile lactic acidosis with methylmalonic aciduria' + 'succinate-CoA ligase, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinate-CoA ligase, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.3"^^http://www.w3.org/2001/XMLSchema#string + 'succinate-CoA ligase, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile lactic acidosis with methylmalonic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_99946 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_773 Label: Refsum disease - 'Refsum disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Refsum disease' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Refsum disease' SubClassOf 'part_of' some 'Cataract associated with a metabolic disease' - 'Refsum disease' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' - 'Refsum disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Refsum disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Refsum disease' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' - 'Refsum disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Refsum disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Refsum disease' SubClassOf 'disease' - 'Refsum disease' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Refsum disease' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Refsum disease' SubClassOf 'part_of' some 'Leukodystrophy' + 'Refsum disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Refsum disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Refsum disease' SubClassOf 'disease' + 'Refsum disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cataract associated with a metabolic disease' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_200037 Label: Paroxysmal dystonia - 'Paroxysmal dystonia' SubClassOf 'group of disorders' + 'Paroxysmal dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99947 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_774 Label: Hereditary hemorrhagic telangiectasia - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'disease' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Skin vascular disease' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Rare systemic disease' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Conjunctival telangiectasia' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Capillary malformation' - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "43.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conjunctival telangiectasia' Class: http://www.orpha.net/ORDO/Orphanet_99944 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2K - 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99945 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2L - 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_772 Label: Infantile Refsum disease - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Infantile Refsum disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Infantile Refsum disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Infantile Refsum disease' SubClassOf 'disease' - 'Infantile Refsum disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' - 'Infantile Refsum disease' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Infantile Refsum disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Infantile Refsum disease' SubClassOf 'disease' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' + 'Infantile Refsum disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' Class: http://www.orpha.net/ORDO/Orphanet_777 Label: X-linked non-syndromic intellectual disability - 'X-linked non-syndromic intellectual disability' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked non-syndromic intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked non-syndromic intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked non-syndromic intellectual disability' SubClassOf 'etiological subtype' - 'X-linked non-syndromic intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability without developmental anomaly' + 'X-linked non-syndromic intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability without developmental anomaly' + 'X-linked non-syndromic intellectual disability' SubClassOf 'etiological subtype' + 'X-linked non-syndromic intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_369913 Label: Combined oxidative phosphorylation defect type 17 - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined oxidative phosphorylation defect type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Combined oxidative phosphorylation defect type 17' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 17' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_778 Label: Rett syndrome - 'Rett syndrome' SubClassOf 'part_of' some 'Motor stereotypies' - 'Rett syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Rett syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Rett syndrome' SubClassOf 'disease' - 'Rett syndrome' SubClassOf 'part_of' some 'Rare pervasive developmental disorder' - 'Rett syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rett syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf 'disease' + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410090) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Rett syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pervasive developmental disorder' + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rett syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor stereotypies' + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Rett syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99948 Label: Charcot-Marie-Tooth disease type 4A - 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_prevalence' some 'Unknown' - 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_775 Label: X-linked intellectual disability, Martinez type - 'X-linked intellectual disability, Martinez type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Martinez type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Martinez type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Martinez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Martinez type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Martinez type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99949 Label: Charcot-Marie-Tooth disease type 4C - 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'has_prevalence' some 'Unknown' + 'Charcot-Marie-Tooth disease type 4C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_776 Label: X-linked intellectual disability with marfanoid habitus - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_prevalence' some 'Unknown' + 'X-linked intellectual disability with marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability with marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_1858 Label: Skeletal dysplasia - epilepsy - short stature - 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'malformation syndrome' - 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Skeletal dysplasia - epilepsy - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Skeletal dysplasia - epilepsy - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Skeletal dysplasia - epilepsy - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_770 Label: Rabies - 'Rabies' SubClassOf 'has_inheritance' some 'sporadic' - 'Rabies' SubClassOf 'part_of' some 'Rare viral disease' - 'Rabies' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rabies' SubClassOf 'disease' - 'Rabies' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Rabies' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Rabies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rabies' SubClassOf 'disease' + 'Rabies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Rabies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rabies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rabies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Rabies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_159918 Label: activin A receptor, type IIB - 'activin A receptor, type IIB' SubClassOf 'gene' - 'activin A receptor, type IIB' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' + 'activin A receptor, type IIB' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' + 'activin A receptor, type IIB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22"^^http://www.w3.org/2001/XMLSchema#string + 'activin A receptor, type IIB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159924 Label: discs, large homolog 3 (Drosophila) - 'discs, large homolog 3 (Drosophila)' SubClassOf 'gene' - 'discs, large homolog 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'discs, large homolog 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string + 'discs, large homolog 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'discs, large homolog 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121137 Label: dynein, axonemal, heavy chain 5 - 'dynein, axonemal, heavy chain 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'dynein, axonemal, heavy chain 5' SubClassOf 'gene' + 'dynein, axonemal, heavy chain 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, heavy chain 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, heavy chain 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_1861 Label: Thoracic dysplasia-hydrocephalus syndrome - 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf 'malformation syndrome' - 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf 'part_of' some 'Thoracic malformation' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120006 Label: tyrosyl-DNA phosphodiesterase 1 - 'tyrosyl-DNA phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 1 with axonal neuropathy' - 'tyrosyl-DNA phosphodiesterase 1' SubClassOf 'gene' + 'tyrosyl-DNA phosphodiesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 1 with axonal neuropathy' + 'tyrosyl-DNA phosphodiesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.11"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosyl-DNA phosphodiesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1860 Label: Thanatophoric dysplasia type 1 - 'Thanatophoric dysplasia type 1' SubClassOf 'clinical subtype' - 'Thanatophoric dysplasia type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Thanatophoric dysplasia type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thanatophoric dysplasia type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Thanatophoric dysplasia type 1' SubClassOf 'part_of' some 'Thanatophoric dysplasia' - 'Thanatophoric dysplasia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Thanatophoric dysplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thanatophoric dysplasia type 1' SubClassOf 'clinical subtype' + 'Thanatophoric dysplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thanatophoric dysplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thanatophoric dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thanatophoric dysplasia' + 'Thanatophoric dysplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_120003 Label: Treacher Collins-Franceschetti syndrome 1 - 'Treacher Collins-Franceschetti syndrome 1' SubClassOf 'gene' - 'Treacher Collins-Franceschetti syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'Treacher Collins-Franceschetti syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'Treacher Collins-Franceschetti syndrome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Treacher Collins-Franceschetti syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1865 Label: Dyssegmental dysplasia, Silverman-Handmaker type - 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'disease' - 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'part_of' some 'Perlecan-related bone disorder' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perlecan-related bone disorder' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'disease' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_402003 Label: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' - 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'disease' + 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal palmoplantar keratoderma' + 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121134 Label: dynein, axonemal, heavy chain 11 - 'dynein, axonemal, heavy chain 11' SubClassOf 'gene' - 'dynein, axonemal, heavy chain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, heavy chain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, heavy chain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, heavy chain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_1864 Label: Congenital valvular dysplasia - 'Congenital valvular dysplasia' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Congenital valvular dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital valvular dysplasia' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Congenital valvular dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital valvular dysplasia' SubClassOf 'morphological anomaly' - 'Congenital valvular dysplasia' SubClassOf 'has_inheritance' some 'sporadic' + 'Congenital valvular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital valvular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Congenital valvular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital valvular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Congenital valvular dysplasia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_324381 Label: Hereditary inclusion body myopathy type 4 - 'Hereditary inclusion body myopathy type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary inclusion body myopathy type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary inclusion body myopathy type 4' SubClassOf 'disease' - 'Hereditary inclusion body myopathy type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary inclusion body myopathy type 4' SubClassOf 'part_of' some 'Inclusion myopathy' + 'Hereditary inclusion body myopathy type 4' SubClassOf 'disease' + 'Hereditary inclusion body myopathy type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary inclusion body myopathy type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Hereditary inclusion body myopathy type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary inclusion body myopathy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1867 Label: Bullous dystrophy, macular type - 'Bullous dystrophy, macular type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Bullous dystrophy, macular type' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Bullous dystrophy, macular type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bullous dystrophy, macular type' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Bullous dystrophy, macular type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Bullous dystrophy, macular type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bullous dystrophy, macular type' SubClassOf 'disease' + 'Bullous dystrophy, macular type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Bullous dystrophy, macular type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Bullous dystrophy, macular type' SubClassOf 'disease' + 'Bullous dystrophy, macular type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159921 Label: angiotensin II receptor, type 2 - 'angiotensin II receptor, type 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'angiotensin II receptor, type 2' SubClassOf 'gene' + 'angiotensin II receptor, type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiotensin II receptor, type 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'angiotensin II receptor, type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1866 Label: Focal, segmental or multifocal dystonia - 'Focal, segmental or multifocal dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal, segmental or multifocal dystonia' SubClassOf 'group of disorders' - 'Focal, segmental or multifocal dystonia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Focal, segmental or multifocal dystonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "31.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf 'group of disorders' + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "29.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Focal, segmental or multifocal dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal, segmental or multifocal dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Focal, segmental or multifocal dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99950 Label: Charcot-Marie-Tooth disease type 4D - 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'has_prevalence' some 'Unknown' + 'Charcot-Marie-Tooth disease type 4D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_402007 Label: Lichen myxedematosus - 'Lichen myxedematosus' SubClassOf 'group of disorders' + 'Lichen myxedematosus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166255 Label: potassium channel, subfamily K, member 9 - 'potassium channel, subfamily K, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability, Birk-Barel type' - 'potassium channel, subfamily K, member 9' SubClassOf 'gene' + 'potassium channel, subfamily K, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability, Birk-Barel type' + 'potassium channel, subfamily K, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily K, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_769 Label: Rabson-Mendenhall syndrome - 'Rabson-Mendenhall syndrome' SubClassOf 'malformation syndrome' - 'Rabson-Mendenhall syndrome' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Rabson-Mendenhall syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rabson-Mendenhall syndrome' SubClassOf 'part_of' some 'Hypertrichosis' - 'Rabson-Mendenhall syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Rabson-Mendenhall syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Rabson-Mendenhall syndrome' SubClassOf 'malformation syndrome' + 'Rabson-Mendenhall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rabson-Mendenhall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Rabson-Mendenhall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Rabson-Mendenhall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rabson-Mendenhall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_121131 Label: dystrophia myotonica-protein kinase - 'dystrophia myotonica-protein kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Steinert myotonic dystrophy' - 'dystrophia myotonica-protein kinase' SubClassOf 'gene' + 'dystrophia myotonica-protein kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Steinert myotonic dystrophy' + 'dystrophia myotonica-protein kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystrophia myotonica-protein kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_768 Label: Familial long QT syndrome - 'Familial long QT syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial long QT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial long QT syndrome' SubClassOf 'disease' - 'Familial long QT syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial long QT syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial long QT syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Familial long QT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial long QT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial long QT syndrome' SubClassOf 'disease' + 'Familial long QT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial long QT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial long QT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_99954 Label: Charcot-Marie-Tooth disease type 4H - 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charcot-Marie-Tooth disease type 4H' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4H' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99953 Label: Charcot-Marie-Tooth disease type 4G - 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'has_prevalence' some 'Unknown' + 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 4G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99952 Label: Charcot-Marie-Tooth disease type 4F - 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99951 Label: Charcot-Marie-Tooth disease type 4E - 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'disease' - 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_742 Label: Prolidase deficiency - 'Prolidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Prolidase deficiency' SubClassOf 'disease' - 'Prolidase deficiency' SubClassOf 'part_of' some 'Disorder of peptide metabolism' - 'Prolidase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Prolidase deficiency' SubClassOf 'part_of' some 'Metabolic disease with skin involvement' - 'Prolidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Prolidase deficiency' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with skin involvement' + 'Prolidase deficiency' SubClassOf 'disease' + 'Prolidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Prolidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peptide metabolism' + 'Prolidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_743 Label: Hereditary thrombophilia due to congenital protein S deficiency - 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' - 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'disease' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_744 Label: Proteus syndrome - 'Proteus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Proteus syndrome' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'Proteus syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Proteus syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Proteus syndrome' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' - 'Proteus syndrome' SubClassOf 'malformation syndrome' - 'Proteus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Proteus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proteus syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Proteus syndrome' SubClassOf 'part_of' some 'PTEN hamartoma tumor syndrome' - 'Proteus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Proteus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proteus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Proteus syndrome' SubClassOf 'malformation syndrome' + 'Proteus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proteus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PTEN hamartoma tumor syndrome' Class: http://www.orpha.net/ORDO/Orphanet_745 Label: Hereditary thrombophilia due to congenital protein C deficiency - 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' - 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'disease' + 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_99977 Label: Esophageal squamous cell carcinoma - 'Esophageal squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Esophageal squamous cell carcinoma' SubClassOf 'part_of' some 'Esophageal carcinoma' - 'Esophageal squamous cell carcinoma' SubClassOf 'histopathological subtype' - 'Esophageal squamous cell carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Esophageal squamous cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "5.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Esophageal squamous cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Esophageal squamous cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Esophageal squamous cell carcinoma' SubClassOf 'histopathological subtype' + 'Esophageal squamous cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Esophageal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_99978 Label: Klatskin tumor - 'Klatskin tumor' SubClassOf 'part_of' some 'Cholangiocarcinoma' - 'Klatskin tumor' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Klatskin tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Klatskin tumor' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Klatskin tumor' SubClassOf 'clinical subtype' - 'Klatskin tumor' SubClassOf 'has_inheritance' some 'sporadic' + 'Klatskin tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cholangiocarcinoma' + 'Klatskin tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Klatskin tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Klatskin tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Klatskin tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Klatskin tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Klatskin tumor' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_740 Label: Hutchinson-Gilford progeria syndrome - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Primary osteolysis' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'disease' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hutchinson-Gilford progeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.005"^^http://www.w3.org/2001/XMLSchema#string) + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'disease' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Hutchinson-Gilford progeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.025"^^http://www.w3.org/2001/XMLSchema#string) + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_369942 Label: CADDS - 'CADDS' SubClassOf 'part_of' some 'Leukodystrophy' - 'CADDS' SubClassOf 'part_of' some 'Peroxisomal disease' - 'CADDS' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'CADDS' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'CADDS' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CADDS' SubClassOf 'part_of' some 'Neurometabolic disease' - 'CADDS' SubClassOf 'has_inheritance' some 'sporadic' - 'CADDS' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CADDS' SubClassOf 'disease' + 'CADDS' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CADDS' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'CADDS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CADDS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'CADDS' SubClassOf 'disease' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_741 Label: Familial mitral valve prolapse - 'Familial mitral valve prolapse' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Familial mitral valve prolapse' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial mitral valve prolapse' SubClassOf 'morphological anomaly' + 'Familial mitral valve prolapse' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Familial mitral valve prolapse' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial mitral valve prolapse' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_155838 Label: Pinnae fistula or cyst - 'Pinnae fistula or cyst' SubClassOf 'morphological anomaly' - 'Pinnae fistula or cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Pinnae fistula or cyst' SubClassOf 'morphological anomaly' + 'Pinnae fistula or cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_155835 Label: Cysts and fistulae of the face and oral cavity - 'Cysts and fistulae of the face and oral cavity' SubClassOf 'group of disorders' + 'Cysts and fistulae of the face and oral cavity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_402017 Label: Acute myeloid leukemia with t(9;11)(p22;q23) - 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf 'disease' + 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf 'disease' + 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_309031 Label: Pancreatic triacylglycerol lipase deficiency - 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'disease' - 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'part_of' some 'Disorder of lipid absorption and transport' + 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'disease' + 'Pancreatic triacylglycerol lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_158446 Label: synovial sarcoma, X breakpoint 2 - 'synovial sarcoma, X breakpoint 2' SubClassOf 'gene' - 'synovial sarcoma, X breakpoint 2' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' + 'synovial sarcoma, X breakpoint 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synovial sarcoma, X breakpoint 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string + 'synovial sarcoma, X breakpoint 2' SubClassOf 'Part of a fusion gene in' some 'Synovial sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_1899 Label: Ehlers-Danlos syndrome, arthrochalasic type - 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label: Primary peritoneal serous/papillary carcinoma - 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'disease' - 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'disease' + 'Primary peritoneal serous/papillary carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_120036 Label: transcription factor binding to IGHM enhancer 3 - 'transcription factor binding to IGHM enhancer 3' SubClassOf 'Part of a fusion gene in' some 'Alveolar soft-tissue sarcoma' - 'transcription factor binding to IGHM enhancer 3' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'transcription factor binding to IGHM enhancer 3' SubClassOf 'gene' + 'transcription factor binding to IGHM enhancer 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor binding to IGHM enhancer 3' SubClassOf 'Part of a fusion gene in' some 'Alveolar soft-tissue sarcoma' + 'transcription factor binding to IGHM enhancer 3' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'transcription factor binding to IGHM enhancer 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_402014 Label: Acute myeloid leukemia with t(6;9)(p23;q34) - 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf 'disease' - 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf 'disease' + 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121167 Label: dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit - 'dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit' SubClassOf 'gene' - 'dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPM1-CDG' + 'dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPM1-CDG' + 'dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1897 Label: EEM syndrome - 'EEM syndrome' SubClassOf 'malformation syndrome' - 'EEM syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'EEM syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'EEM syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'EEM syndrome' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'EEM syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'EEM syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'EEM syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'EEM syndrome' SubClassOf 'malformation syndrome' + 'EEM syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'EEM syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'EEM syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_1896 Label: EEC syndrome - 'EEC syndrome' SubClassOf 'malformation syndrome' - 'EEC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'EEC syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'EEC syndrome' SubClassOf 'part_of' some 'EEC syndrome and related syndrome' - 'EEC syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'EEC syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'EEC syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'EEC syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'EEC syndrome' SubClassOf 'part_of' some 'Secondary entropion' - 'EEC syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'EEC syndrome' SubClassOf 'malformation syndrome' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'EEC syndrome and related syndrome' + 'EEC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary entropion' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'EEC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'EEC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_402011 Label: Acute myeloid leukemia with t(8;16)(p11;p13) - 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120039 Label: TRK-fused gene - 'TRK-fused gene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'TRK-fused gene' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' - 'TRK-fused gene' SubClassOf 'gene' - 'TRK-fused gene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy, Okinawa type' - 'TRK-fused gene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia-optic atrophy-neuropathy syndrome' + 'TRK-fused gene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'TRK-fused gene' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'TRK-fused gene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy, Okinawa type' + 'TRK-fused gene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TRK-fused gene' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'TRK-fused gene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia-optic atrophy-neuropathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364825 Label: KIAA0319-like - 'KIAA0319-like' SubClassOf 'gene' - 'KIAA0319-like' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'KIAA0319-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA0319-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA0319-like' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_1892 Label: Ectrodactyly - polydactyly - 'Ectrodactyly - polydactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Ectrodactyly - polydactyly' SubClassOf 'malformation syndrome' + 'Ectrodactyly - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Ectrodactyly - polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_739 Label: Prader-Willi syndrome - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Prader-Willi syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi syndrome' SubClassOf 'disease' - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Prader-Willi syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Prader-Willi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf 'disease' + 'Prader-Willi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Prader-Willi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_398987 Label: Malignant teratoma of ovary - 'Malignant teratoma of ovary' SubClassOf 'part_of' some 'Malignant non-epithelial tumor of ovary' - 'Malignant teratoma of ovary' SubClassOf 'disease' + 'Malignant teratoma of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant teratoma of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Malignant teratoma of ovary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malignant teratoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant non-epithelial tumor of ovary' + 'Malignant teratoma of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant teratoma of ovary' SubClassOf 'disease' + 'Malignant teratoma of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1891 Label: Intellectual disability - spasticity - ectrodactyly - 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'malformation syndrome' + 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'malformation syndrome' + 'Intellectual disability - spasticity - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - spasticity - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99981 Label: Apnea of prematurity - 'Apnea of prematurity' SubClassOf 'clinical subtype' - 'Apnea of prematurity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Apnea of prematurity' SubClassOf 'part_of' some 'Infantile apnea' - 'Apnea of prematurity' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Apnea of prematurity' SubClassOf 'clinical subtype' + 'Apnea of prematurity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile apnea' + 'Apnea of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Apnea of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Apnea of prematurity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_735 Label: Porokeratosis of Mibelli - 'Porokeratosis of Mibelli' SubClassOf 'part_of' some 'Genetic porokeratosis' - 'Porokeratosis of Mibelli' SubClassOf 'disease' - 'Porokeratosis of Mibelli' SubClassOf 'part_of' some 'Porokeratosis' + 'Porokeratosis of Mibelli' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic porokeratosis' + 'Porokeratosis of Mibelli' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porokeratosis' + 'Porokeratosis of Mibelli' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99983 Label: Cutaneous myiasis - 'Cutaneous myiasis' SubClassOf 'group of disorders' + 'Cutaneous myiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_738 Label: Porphyria - 'Porphyria' SubClassOf 'group of disorders' + 'Porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Porphyria' SubClassOf 'group of disorders' + 'Porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120032 Label: transcription factor B1, mitochondrial - 'transcription factor B1, mitochondrial' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'transcription factor B1, mitochondrial' SubClassOf 'gene' + 'transcription factor B1, mitochondrial' SubClassOf 'Modifying germline mutation in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'transcription factor B1, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.1-q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor B1, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_737 Label: Porokeratosis plantaris palmaris et disseminata - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'part_of' some 'Isolated punctate palmoplantar keratoderma' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'part_of' some 'Porokeratosis' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_prevalence' some 'Unknown' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'part_of' some 'Genetic porokeratosis' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'disease' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porokeratosis' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated punctate palmoplantar keratoderma' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic porokeratosis' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_369939 Label: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'malformation syndrome' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_755 Label: Leydig cell hypoplasia - 'Leydig cell hypoplasia' SubClassOf 'part_of' some '46,XY disorder of sex development due to impaired androgen production' - 'Leydig cell hypoplasia' SubClassOf 'part_of' some 'Rare male infertility due to testicular endocrine disorder' - 'Leydig cell hypoplasia' SubClassOf 'disease' + 'Leydig cell hypoplasia' SubClassOf 'disease' + 'Leydig cell hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to impaired androgen production' + 'Leydig cell hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_756 Label: Pseudohypoaldosteronism type 1 - 'Pseudohypoaldosteronism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 1' SubClassOf 'disease' - 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pseudohypoaldosteronism type 1' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudohypoaldosteronism type 1' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Pseudohypoaldosteronism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Pseudohypoaldosteronism type 1' SubClassOf 'disease' + 'Pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudohypoaldosteronism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudohypoaldosteronism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_753 Label: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'part_of' some 'Rare male infertility due to testicular endocrine disorder' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'disease' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'disease' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to testicular endocrine disorder' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_754 Label: Androgen insensitivity syndrome - 'Androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Androgen insensitivity syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Androgen insensitivity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Androgen insensitivity syndrome' SubClassOf 'group of disorders' + 'Androgen insensitivity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Androgen insensitivity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Androgen insensitivity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99969 Label: Pleomorphic liposarcoma - 'Pleomorphic liposarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleomorphic liposarcoma' SubClassOf 'part_of' some 'Liposarcoma' - 'Pleomorphic liposarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pleomorphic liposarcoma' SubClassOf 'histopathological subtype' - 'Pleomorphic liposarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pleomorphic liposarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleomorphic liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleomorphic liposarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pleomorphic liposarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Liposarcoma' + 'Pleomorphic liposarcoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_752 Label: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to testicular steroidogenesis defect' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some 'Rare male infertility due to testicular endocrine disorder' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'disease' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.68"^^http://www.w3.org/2001/XMLSchema#string) + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'disease' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to testicular steroidogenesis defect' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_99966 Label: Atypical teratoid rhabdoid tumor - 'Atypical teratoid rhabdoid tumor' SubClassOf 'clinical subtype' - 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atypical teratoid rhabdoid tumor' SubClassOf 'part_of' some 'Rhabdoid tumor' - 'Atypical teratoid rhabdoid tumor' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' - 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhabdoid tumor' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical teratoid rhabdoid tumor' SubClassOf 'clinical subtype' + 'Atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal tumor of the neuroepithelial tissue' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Atypical teratoid rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.38"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_364820 Label: TRPV4-related bone disorder - 'TRPV4-related bone disorder' SubClassOf 'group of disorders' + 'TRPV4-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99967 Label: Myxoid/round cell liposarcoma - 'Myxoid/round cell liposarcoma' SubClassOf 'histopathological subtype' - 'Myxoid/round cell liposarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myxoid/round cell liposarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Myxoid/round cell liposarcoma' SubClassOf 'part_of' some 'Liposarcoma' - 'Myxoid/round cell liposarcoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Myxoid/round cell liposarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myxoid/round cell liposarcoma' SubClassOf 'histopathological subtype' + 'Myxoid/round cell liposarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Liposarcoma' + 'Myxoid/round cell liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myxoid/round cell liposarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_750 Label: Pseudoachondroplasia - 'Pseudoachondroplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudoachondroplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Pseudoachondroplasia' SubClassOf 'disease' - 'Pseudoachondroplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudoachondroplasia' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Pseudoachondroplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudoachondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Pseudoachondroplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudoachondroplasia' SubClassOf 'disease' + 'Pseudoachondroplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_402020 Label: Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) - 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf 'disease' - 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf 'disease' + 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_292098 Label: multiple EGF-like-domains 10 - 'multiple EGF-like-domains 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 1' - 'multiple EGF-like-domains 10' SubClassOf 'gene' + 'multiple EGF-like-domains 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple EGF-like-domains 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33"^^http://www.w3.org/2001/XMLSchema#string + 'multiple EGF-like-domains 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 1' Class: http://www.orpha.net/ORDO/Orphanet_1879 Label: Melorheostosis with osteopoikilosis - 'Melorheostosis with osteopoikilosis' SubClassOf 'malformation syndrome' - 'Melorheostosis with osteopoikilosis' SubClassOf 'part_of' some 'Osteopetrosis' + 'Melorheostosis with osteopoikilosis' SubClassOf 'malformation syndrome' + 'Melorheostosis with osteopoikilosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Melorheostosis with osteopoikilosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Melorheostosis with osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_394529 Label: Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type - 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'clinical subtype' - 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'part_of' some 'Multiple acyl-CoA dehydrogenase deficiency' + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'clinical subtype' + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple acyl-CoA dehydrogenase deficiency' + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_402026 Label: Acute myeloid leukemia with NPM1 somatic mutations - 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'disease' - 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_155832 Label: Rare head and neck malformation - 'Rare head and neck malformation' SubClassOf 'group of disorders' + 'Rare head and neck malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121158 Label: dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) - 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf 'gene' - 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' - 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPAGT1-CDG' + 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes with glycosylation defect' + 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'DPAGT1-CDG' + 'dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180307 Label: spastic paraplegia 25 (autosomal recessive, with disc herniation) - 'spastic paraplegia 25 (autosomal recessive, with disc herniation)' SubClassOf 'gene' - 'spastic paraplegia 25 (autosomal recessive, with disc herniation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 25' + 'spastic paraplegia 25 (autosomal recessive, with disc herniation)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 25 (autosomal recessive, with disc herniation)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 25 (autosomal recessive, with disc herniation)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 25' Class: http://www.orpha.net/ORDO/Orphanet_120029 Label: transcription factor AP-2 beta (activating enhancer binding protein 2 beta) - 'transcription factor AP-2 beta (activating enhancer binding protein 2 beta)' SubClassOf 'gene' - 'transcription factor AP-2 beta (activating enhancer binding protein 2 beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Char syndrome' + 'transcription factor AP-2 beta (activating enhancer binding protein 2 beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor AP-2 beta (activating enhancer binding protein 2 beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor AP-2 beta (activating enhancer binding protein 2 beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Char syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1883 Label: Ectodermal dysplasia - sensorineural deafness - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'malformation syndrome' + 'Ectodermal dysplasia - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ectodermal dysplasia - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1882 Label: Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'malformation syndrome' + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_394532 Label: Multiple acyl-CoA dehydrogenation deficiency, mild type - 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'clinical subtype' - 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'part_of' some 'Multiple acyl-CoA dehydrogenase deficiency' + 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'clinical subtype' + 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_159904 Label: inositol 1,4,5-trisphosphate receptor, type 1 - 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 29' - 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf 'gene' - 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 15/16' + 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 29' + 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26.1"^^http://www.w3.org/2001/XMLSchema#string + 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 15/16' + 'inositol 1,4,5-trisphosphate receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120027 Label: transferrin - 'transferrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital atransferrinemia' - 'transferrin' SubClassOf 'gene' + 'transferrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital atransferrinemia' + 'transferrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'transferrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1885 Label: Isolated ectopia lentis - 'Isolated ectopia lentis' SubClassOf 'part_of' some 'Lens position anomaly' - 'Isolated ectopia lentis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated ectopia lentis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated ectopia lentis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Isolated ectopia lentis' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Isolated ectopia lentis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated ectopia lentis' SubClassOf 'malformation syndrome' + 'Isolated ectopia lentis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Isolated ectopia lentis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated ectopia lentis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated ectopia lentis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated ectopia lentis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_402023 Label: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) - 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf 'disease' - 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf 'disease' + 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1884 Label: Ectopia lentis - chorioretinal dystrophy - myopia - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'disease' - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'part_of' some 'Lens position anomaly' - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'disease' + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99976 Label: Esophageal adenocarcinoma - 'Esophageal adenocarcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Esophageal adenocarcinoma' SubClassOf 'part_of' some 'Esophageal carcinoma' - 'Esophageal adenocarcinoma' SubClassOf 'histopathological subtype' - 'Esophageal adenocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Esophageal adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Esophageal adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal adenocarcinoma' SubClassOf 'histopathological subtype' + 'Esophageal adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Esophageal carcinoma' + 'Esophageal adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "5.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal adenocarcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Esophageal adenocarcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_180301 Label: spastic paraplegia 23 (autosomal recessive) - 'spastic paraplegia 23 (autosomal recessive)' SubClassOf 'gene' - 'spastic paraplegia 23 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 23' + 'spastic paraplegia 23 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 23 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24-q32"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 23 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 23' Class: http://www.orpha.net/ORDO/Orphanet_121150 Label: DNA (cytosine-5-)-methyltransferase 3 beta - 'DNA (cytosine-5-)-methyltransferase 3 beta' SubClassOf 'gene' - 'DNA (cytosine-5-)-methyltransferase 3 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' + 'DNA (cytosine-5-)-methyltransferase 3 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'DNA (cytosine-5-)-methyltransferase 3 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DNA (cytosine-5-)-methyltransferase 3 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1880 Label: Ebstein malformation - 'Ebstein malformation' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Ebstein malformation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ebstein malformation' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Ebstein malformation' SubClassOf 'morphological anomaly' - 'Ebstein malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Ebstein malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ebstein malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ebstein malformation' SubClassOf 'morphological anomaly' + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Ebstein malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_749 Label: Congenital prekallikrein deficiency - 'Congenital prekallikrein deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Congenital prekallikrein deficiency' SubClassOf 'disease' + 'Congenital prekallikrein deficiency' SubClassOf 'disease' + 'Congenital prekallikrein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_369929 Label: Aldosterone-producing adenoma with seizures and neurological abnormalities - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_inheritance' some 'sporadic' - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'part_of' some 'Genetic hyperaldosteronism' - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'disease' - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'part_of' some 'Rare surgically correctable form of primary aldosteronism' - 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperaldosteronism' + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'disease' + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare surgically correctable form of primary aldosteronism' + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99971 Label: Well-differentiated liposarcoma - 'Well-differentiated liposarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Well-differentiated liposarcoma' SubClassOf 'part_of' some 'Liposarcoma' - 'Well-differentiated liposarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Well-differentiated liposarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Well-differentiated liposarcoma' SubClassOf 'histopathological subtype' + 'Well-differentiated liposarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Well-differentiated liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Well-differentiated liposarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Well-differentiated liposarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Liposarcoma' + 'Well-differentiated liposarcoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_402029 Label: Primary eosinophilic gastrointestinal disease - 'Primary eosinophilic gastrointestinal disease' SubClassOf 'group of disorders' + 'Primary eosinophilic gastrointestinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_748 Label: Mendelian susceptibility to mycobacterial diseases - 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'group of disorders' + 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'group of disorders' + 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_120020 Label: TEK tyrosine kinase, endothelial - 'TEK tyrosine kinase, endothelial' SubClassOf 'gene' - 'TEK tyrosine kinase, endothelial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucocutaneous venous malformations' + 'TEK tyrosine kinase, endothelial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'TEK tyrosine kinase, endothelial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Mucocutaneous venous malformations' + 'TEK tyrosine kinase, endothelial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121152 Label: docking protein 7 - 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' - 'docking protein 7' SubClassOf 'gene' - 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'docking protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fetal akinesia deformation sequence' + 'docking protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'docking protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99970 Label: Dedifferentiated liposarcoma - 'Dedifferentiated liposarcoma' SubClassOf 'histopathological subtype' - 'Dedifferentiated liposarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Dedifferentiated liposarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Dedifferentiated liposarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Dedifferentiated liposarcoma' SubClassOf 'part_of' some 'Liposarcoma' + 'Dedifferentiated liposarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Dedifferentiated liposarcoma' SubClassOf 'histopathological subtype' + 'Dedifferentiated liposarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Liposarcoma' + 'Dedifferentiated liposarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dedifferentiated liposarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_747 Label: Idiopathic pulmonary alveolar proteinosis - 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'disease' - 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.036"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.049"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'disease' + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Idiopathic pulmonary alveolar proteinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_746 Label: Mitochondrial trifunctional protein deficiency - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'part_of' some 'Disorder of mitochondrial fatty acid oxidation' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disease' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of mitochondrial fatty acid oxidation' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disease' + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_364817 Label: Aggrecan-related bone disorder - 'Aggrecan-related bone disorder' SubClassOf 'group of disorders' + 'Aggrecan-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180303 Label: Rare non-malformative uterine adnexal disease - 'Rare non-malformative uterine adnexal disease' SubClassOf 'group of disorders' + 'Rare non-malformative uterine adnexal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715 Label: Glycogen storage disease due to muscle phosphorylase kinase deficiency - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to phosphorylase kinase deficiency' - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180316 Label: spastic paraplegia 27 (autosomal recessive) - 'spastic paraplegia 27 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 27' - 'spastic paraplegia 27 (autosomal recessive)' SubClassOf 'gene' + 'spastic paraplegia 27 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 27 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 27' + 'spastic paraplegia 27 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_716 Label: Phenylketonuria - 'Phenylketonuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phenylketonuria' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Phenylketonuria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Phenylketonuria' SubClassOf 'part_of' some 'Disorder of phenylalanine metabolism' - 'Phenylketonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Phenylketonuria' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Phenylketonuria' SubClassOf 'disease' + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410223) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Phenylketonuria' SubClassOf 'disease' + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phenylalanine metabolism' + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410223) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Phenylketonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_120054 Label: transforming growth factor, beta 3 - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'transforming growth factor, beta 3' SubClassOf 'gene' - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'transforming growth factor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transforming growth factor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' Class: http://www.orpha.net/ORDO/Orphanet_262164 Label: Partial deletion of the long arm of chromosome 20 - 'Partial deletion of the long arm of chromosome 20' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_713 Label: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_714 Label: Hemolytic anemia due to diphosphoglycerate mutase deficiency - 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'part_of' some 'Other metabolic disease' - 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_3275 Label: Spondylocarpotarsal synostosis - 'Spondylocarpotarsal synostosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spondylocarpotarsal synostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylocarpotarsal synostosis' SubClassOf 'malformation syndrome' - 'Spondylocarpotarsal synostosis' SubClassOf 'part_of' some 'Filamin-related bone disorder' - 'Spondylocarpotarsal synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylocarpotarsal synostosis' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' + 'Spondylocarpotarsal synostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spondylocarpotarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Spondylocarpotarsal synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylocarpotarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Spondylocarpotarsal synostosis' SubClassOf 'malformation syndrome' + 'Spondylocarpotarsal synostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120052 Label: transforming growth factor, beta 2 - 'transforming growth factor, beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'transforming growth factor, beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'transforming growth factor, beta 2' SubClassOf 'gene' + 'transforming growth factor, beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'transforming growth factor, beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'transforming growth factor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming growth factor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_180312 Label: Rare vulvovaginal tumor - 'Rare vulvovaginal tumor' SubClassOf 'group of disorders' + 'Rare vulvovaginal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3273 Label: Synovial sarcoma - 'Synovial sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Synovial sarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Synovial sarcoma' SubClassOf 'disease' - 'Synovial sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Synovial sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Synovial sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Synovial sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Synovial sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Synovial sarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_132285 Label: androgen receptor - 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kennedy disease' - 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial androgen insensitivity syndrome' - 'androgen receptor' SubClassOf 'gene' - 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' - 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete androgen insensitivity syndrome' + 'androgen receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12"^^http://www.w3.org/2001/XMLSchema#string + 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kennedy disease' + 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial androgen insensitivity syndrome' + 'androgen receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' + 'androgen receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete androgen insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717 Label: Catecholamine-producing tumor - 'Catecholamine-producing tumor' SubClassOf 'group of disorders' + 'Catecholamine-producing tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Catecholamine-producing tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Catecholamine-producing tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Catecholamine-producing tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_718 Label: Isolated Pierre Robin syndrome - 'Isolated Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Isolated Pierre Robin syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated Pierre Robin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Isolated Pierre Robin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated Pierre Robin syndrome' SubClassOf 'malformation syndrome' - 'Isolated Pierre Robin syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated Pierre Robin syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Isolated Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf 'malformation syndrome' + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Pierre Robin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Isolated Pierre Robin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated Pierre Robin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated Pierre Robin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_166282 Label: Familial sick sinus syndrome - 'Familial sick sinus syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial sick sinus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial sick sinus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial sick sinus syndrome' SubClassOf 'disease' - 'Familial sick sinus syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Familial sick sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Familial sick sinus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial sick sinus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial sick sinus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial sick sinus syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_206724 Label: ZFP57 zinc finger protein - 'ZFP57 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' - 'ZFP57 zinc finger protein' SubClassOf 'gene' + 'ZFP57 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'ZFP57 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ZFP57 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_166286 Label: Porokeratotic eccrine ostial and dermal duct nevus - 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'disease' - 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'part_of' some 'Rare nevus' - 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'disease' + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_180318 Label: spastic paraplegia 32 (autosomal recessive) - 'spastic paraplegia 32 (autosomal recessive)' SubClassOf 'gene' - 'spastic paraplegia 32 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 32' + 'spastic paraplegia 32 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 32' + 'spastic paraplegia 32 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12-q21"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 32 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_120056 Label: transforming growth factor, beta-induced, 68kDa - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Granular corneal dystrophy type II' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcystic corneal dystrophy' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'gene' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiel-Behnke corneal dystrophy' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reis-B�cklers corneal dystrophy' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Granular corneal dystrophy type I' - 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lattice corneal dystrophy type I' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Granular corneal dystrophy type II' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcystic corneal dystrophy' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reis-B�cklers corneal dystrophy' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiel-Behnke corneal dystrophy' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Granular corneal dystrophy type I' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lattice corneal dystrophy type I' + 'transforming growth factor, beta-induced, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121102 Label: dihydrolipoamide dehydrogenase - 'dihydrolipoamide dehydrogenase' SubClassOf 'gene' - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E3 deficiency' + 'dihydrolipoamide dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'dihydrolipoamide dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dihydrolipoamide dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pyruvate dehydrogenase E3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_139518 Label: Distal hereditary motor neuropathy type 1 - 'Distal hereditary motor neuropathy type 1' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' - 'Distal hereditary motor neuropathy type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Distal hereditary motor neuropathy type 1' SubClassOf 'disease' - 'Distal hereditary motor neuropathy type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Distal hereditary motor neuropathy type 1' SubClassOf 'disease' + 'Distal hereditary motor neuropathy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal hereditary motor neuropathy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal hereditary motor neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_238613 Label: Beckwith-Wiedemann syndrome due to NSD1 mutation - 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_139515 Label: Charcot-Marie-Tooth disease type 4J - 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' - 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4J' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 4' + 'Charcot-Marie-Tooth disease type 4J' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_364198 Label: Bipartite talus - 'Bipartite talus' SubClassOf 'morphological anomaly' - 'Bipartite talus' SubClassOf 'part_of' some 'Dysostosis of genetic origin with limb anomaly as a major feature' - 'Bipartite talus' SubClassOf 'part_of' some 'Non-syndromic limb malformation' - 'Bipartite talus' SubClassOf 'has_inheritance' some 'sporadic' - 'Bipartite talus' SubClassOf 'part_of' some 'Dysostosis with limb anomaly as a major feature' + 'Bipartite talus' SubClassOf 'morphological anomaly' + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb malformation' + 'Bipartite talus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3270 Label: Radio-ulnar synostosis - intellectual disability - hypotonia - 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'malformation syndrome' + 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139512 Label: Neuropathy with hearing impairment - 'Neuropathy with hearing impairment' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' - 'Neuropathy with hearing impairment' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Neuropathy with hearing impairment' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuropathy with hearing impairment' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuropathy with hearing impairment' SubClassOf 'disease' + 'Neuropathy with hearing impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Neuropathy with hearing impairment' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neuropathy with hearing impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Neuropathy with hearing impairment' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuropathy with hearing impairment' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_723 Label: Pneumocystosis - 'Pneumocystosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Pneumocystosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pneumocystosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pneumocystosis' SubClassOf 'disease' + 'Pneumocystosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pneumocystosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Pneumocystosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_722 Label: Hypoplasminogenemia - 'Hypoplasminogenemia' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Hypoplasminogenemia' SubClassOf 'part_of' some 'Rare systemic disease' - 'Hypoplasminogenemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypoplasminogenemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Hypoplasminogenemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypoplasminogenemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hypoplasminogenemia' SubClassOf 'disease' + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Hypoplasminogenemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hypoplasminogenemia' SubClassOf 'disease' + 'Hypoplasminogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypoplasminogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypoplasminogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_721 Label: Gray platelet syndrome - 'Gray platelet syndrome' SubClassOf 'disease' - 'Gray platelet syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gray platelet syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gray platelet syndrome' SubClassOf 'part_of' some 'Alpha granule disease' - 'Gray platelet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gray platelet syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Gray platelet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gray platelet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gray platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha granule disease' + 'Gray platelet syndrome' SubClassOf 'disease' + 'Gray platelet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gray platelet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_720 Label: Pili bifurcati - 'Pili bifurcati' SubClassOf 'has_prevalence' some 'Unknown' - 'Pili bifurcati' SubClassOf 'disease' - 'Pili bifurcati' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Pili bifurcati' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Pili bifurcati' SubClassOf 'disease' + 'Pili bifurcati' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pili bifurcati' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_724 Label: Idiopathic acute eosinophilic pneumonia - 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'part_of' some 'Idiopathic eosinophilic pneumonia' - 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'disease' - 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'disease' + 'Idiopathic acute eosinophilic pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic acute eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic eosinophilic pneumonia' + 'Idiopathic acute eosinophilic pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3265 Label: Humero-radial synostosis - 'Humero-radial synostosis' SubClassOf 'morphological anomaly' - 'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Humero-radial synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Humero-radial synostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Humero-radial synostosis' SubClassOf 'part_of' some 'Joint formation defects' - 'Humero-radial synostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Humero-radial synostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Humero-radial synostosis' SubClassOf 'morphological anomaly' + 'Humero-radial synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Humero-radial synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Humero-radial synostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_725 Label: Continuous spikes and waves during sleep - 'Continuous spikes and waves during sleep' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Continuous spikes and waves during sleep' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Continuous spikes and waves during sleep' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Continuous spikes and waves during sleep' SubClassOf 'has_prevalence' some 'Unknown' - 'Continuous spikes and waves during sleep' SubClassOf 'has_inheritance' some 'sporadic' - 'Continuous spikes and waves during sleep' SubClassOf 'disease' + 'Continuous spikes and waves during sleep' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Continuous spikes and waves during sleep' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Continuous spikes and waves during sleep' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Continuous spikes and waves during sleep' SubClassOf 'disease' + 'Continuous spikes and waves during sleep' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_262155 Label: Partial deletion of the long arm of chromosome 19 - 'Partial deletion of the long arm of chromosome 19' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_726 Label: Alpers syndrome - 'Alpers syndrome' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpers syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Alpers syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpers syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alpers syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Alpers syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'Alpers syndrome' SubClassOf 'disease' - 'Alpers syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Alpers syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' + 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alpers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Alpers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Alpers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Alpers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpers syndrome' SubClassOf 'disease' + 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_3267 Label: Familial lambdoid synostosis - 'Familial lambdoid synostosis' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Familial lambdoid synostosis' SubClassOf 'morphological anomaly' + 'Familial lambdoid synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Familial lambdoid synostosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_166299 Label: Benign partial epilepsy of infancy with complex partial seizures - 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'part_of' some 'Benign non-familial infantile seizures' - 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'disease' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign non-familial infantile seizures' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_727 Label: Microscopic polyangiitis - 'Microscopic polyangiitis' SubClassOf 'disease' - 'Microscopic polyangiitis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Microscopic polyangiitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Microscopic polyangiitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Microscopic polyangiitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Microscopic polyangiitis' SubClassOf 'part_of' some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' - 'Microscopic polyangiitis' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Microscopic polyangiitis' SubClassOf 'disease' + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Microscopic polyangiitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Microscopic polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3266 Label: Humero-radio-ulnar synostosis - 'Humero-radio-ulnar synostosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Humero-radio-ulnar synostosis' SubClassOf 'part_of' some 'Joint formation defects' - 'Humero-radio-ulnar synostosis' SubClassOf 'morphological anomaly' - 'Humero-radio-ulnar synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Humero-radio-ulnar synostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Humero-radio-ulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Humero-radio-ulnar synostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Humero-radio-ulnar synostosis' SubClassOf 'morphological anomaly' + 'Humero-radio-ulnar synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120043 Label: transferrin receptor 2 - 'transferrin receptor 2' SubClassOf 'gene' - 'transferrin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 3' + 'transferrin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transferrin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 3' + 'transferrin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_728 Label: Relapsing polychondritis - 'Relapsing polychondritis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Relapsing polychondritis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Relapsing polychondritis' SubClassOf 'disease' - 'Relapsing polychondritis' SubClassOf 'has_prevalence' some 'Unknown' - 'Relapsing polychondritis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Relapsing polychondritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Relapsing polychondritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Relapsing polychondritis' SubClassOf 'disease' + 'Relapsing polychondritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Relapsing polychondritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3261 Label: Autoimmune lymphoproliferative syndrome - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'part_of' some 'Lymphoid hemopathy' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'disease' + 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoid hemopathy' + 'Autoimmune lymphoproliferative syndrome' SubClassOf 'disease' + 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_206710 Label: Generalized bulbospinal muscular atrophy - 'Generalized bulbospinal muscular atrophy' SubClassOf 'group of disorders' + 'Generalized bulbospinal muscular atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_729 Label: Polycythemia vera - 'Polycythemia vera' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Polycythemia vera' SubClassOf 'part_of' some 'Polycythemia' - 'Polycythemia vera' SubClassOf 'disease' - 'Polycythemia vera' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Polycythemia vera' SubClassOf 'has_inheritance' some 'sporadic' - 'Polycythemia vera' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Polycythemia vera' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Polycythemia vera' SubClassOf 'disease' + 'Polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Polycythemia vera' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Polycythemia vera' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polycythemia' + 'Polycythemia vera' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polycythemia vera' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3260 Label: Idiopathic hypereosinophilic syndrome - 'Idiopathic hypereosinophilic syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Idiopathic hypereosinophilic syndrome' SubClassOf 'part_of' some 'Hypereosinophilic syndrome' - 'Idiopathic hypereosinophilic syndrome' SubClassOf 'clinical subtype' - 'Idiopathic hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Idiopathic hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypereosinophilic syndrome' + 'Idiopathic hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic hypereosinophilic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic hypereosinophilic syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_180322 Label: spastic paraplegia 16 (complicated, X-linked recessive) - 'spastic paraplegia 16 (complicated, X-linked recessive)' SubClassOf 'gene' - 'spastic paraplegia 16 (complicated, X-linked recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked spastic paraplegia type 16' + 'spastic paraplegia 16 (complicated, X-linked recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 16 (complicated, X-linked recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.2"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 16 (complicated, X-linked recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked spastic paraplegia type 16' Class: http://www.orpha.net/ORDO/Orphanet_3263 Label: Syngnathia - cleft palate - 'Syngnathia - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Syngnathia - cleft palate' SubClassOf 'malformation syndrome' + 'Syngnathia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Syngnathia - cleft palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3262 Label: Syngnathia multiple anomalies - 'Syngnathia multiple anomalies' SubClassOf 'malformation syndrome' - 'Syngnathia multiple anomalies' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Syngnathia multiple anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Syngnathia multiple anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syngnathia multiple anomalies' SubClassOf 'malformation syndrome' + 'Syngnathia multiple anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_180324 Label: spastic paraplegia 34 (autosomal dominant) - 'spastic paraplegia 34 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked spastic paraplegia type 34' - 'spastic paraplegia 34 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 34 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "reserved"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 34 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 34 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked spastic paraplegia type 34' Class: http://www.orpha.net/ORDO/Orphanet_206713 Label: Distal spinal muscular atrophy - 'Distal spinal muscular atrophy' SubClassOf 'group of disorders' + 'Distal spinal muscular atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166291 Label: Dirofilariasis - 'Dirofilariasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dirofilariasis' SubClassOf 'part_of' some 'Filariasis' - 'Dirofilariasis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dirofilariasis' SubClassOf 'disease' + 'Dirofilariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dirofilariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dirofilariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dirofilariasis' SubClassOf 'disease' + 'Dirofilariasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_3269 Label: Radio-ulnar synostosis - 'Radio-ulnar synostosis' SubClassOf 'morphological anomaly' - 'Radio-ulnar synostosis' SubClassOf 'part_of' some 'Joint formation defects' + 'Radio-ulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Radio-ulnar synostosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_140896 Label: Severe acute respiratory syndrome - 'Severe acute respiratory syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Severe acute respiratory syndrome' SubClassOf 'disease' - 'Severe acute respiratory syndrome' SubClassOf 'part_of' some 'Rare viral disease' - 'Severe acute respiratory syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Severe acute respiratory syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Severe acute respiratory syndrome' SubClassOf 'disease' + 'Severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Severe acute respiratory syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3268 Label: Synostosis - microcephaly - scoliosis - 'Synostosis - microcephaly - scoliosis' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Synostosis - microcephaly - scoliosis' SubClassOf 'malformation syndrome' + 'Synostosis - microcephaly - scoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Synostosis - microcephaly - scoliosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166295 Label: Benign non-familial infantile seizures - 'Benign non-familial infantile seizures' SubClassOf 'group of disorders' + 'Benign non-familial infantile seizures' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120047 Label: transforming growth factor, beta 1 - 'transforming growth factor, beta 1' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' - 'transforming growth factor, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Camurati-Engelmann disease' - 'transforming growth factor, beta 1' SubClassOf 'gene' + 'transforming growth factor, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming growth factor, beta 1' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' + 'transforming growth factor, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Camurati-Engelmann disease' + 'transforming growth factor, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238624 Label: Idiopathic intracranial hypertension - 'Idiopathic intracranial hypertension' SubClassOf 'disease' - 'Idiopathic intracranial hypertension' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Idiopathic intracranial hypertension' SubClassOf 'disease' + 'Idiopathic intracranial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_139525 Label: Distal hereditary motor neuropathy type 2 - 'Distal hereditary motor neuropathy type 2' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' - 'Distal hereditary motor neuropathy type 2' SubClassOf 'disease' - 'Distal hereditary motor neuropathy type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal hereditary motor neuropathy type 2' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Distal hereditary motor neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Distal hereditary motor neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Distal hereditary motor neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Distal hereditary motor neuropathy type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal hereditary motor neuropathy type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_732 Label: Polymyositis - 'Polymyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Polymyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Polymyositis' SubClassOf 'disease' - 'Polymyositis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Polymyositis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Polymyositis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' + 'Polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.41"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.585"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polymyositis' SubClassOf 'disease' + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_731 Label: Autosomal recessive polycystic kidney disease - 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'disease' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some 'Rare genetic disorder with obstructive azoospermia' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive polycystic kidney disease' SubClassOf 'disease' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disorder with obstructive azoospermia' + 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive polycystic kidney disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_734 Label: Alpha delta granule deficiency - 'Alpha delta granule deficiency' SubClassOf 'part_of' some 'Platelet storage pool disease' - 'Alpha delta granule deficiency' SubClassOf 'disease' + 'Alpha delta granule deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Platelet storage pool disease' + 'Alpha delta granule deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_733 Label: Familial adenomatous polyposis - 'Familial adenomatous polyposis' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Familial adenomatous polyposis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Familial adenomatous polyposis' SubClassOf 'disease' - 'Familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' + 'Familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "19.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Familial adenomatous polyposis' SubClassOf 'disease' + 'Familial adenomatous polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_132264 Label: excision repair cross-complementation group 3 - 'excision repair cross-complementation group 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group B' - 'excision repair cross-complementation group 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' - 'excision repair cross-complementation group 3' SubClassOf 'gene' + 'excision repair cross-complementation group 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group B' + 'excision repair cross-complementation group 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'excision repair cross-complementation group 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206701 Label: Bulbospinal muscular atrophy - 'Bulbospinal muscular atrophy' SubClassOf 'group of disorders' + 'Bulbospinal muscular atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120072 Label: TGFB-induced factor homeobox 1 - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'TGFB-induced factor homeobox 1' SubClassOf 'gene' - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.31"^^http://www.w3.org/2001/XMLSchema#string + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'TGFB-induced factor homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_262146 Label: Partial deletion of the long arm of chromosome 18 - 'Partial deletion of the long arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3250 Label: Proximal symphalangism - 'Proximal symphalangism' SubClassOf 'malformation syndrome' - 'Proximal symphalangism' SubClassOf 'has_prevalence' some 'Unknown' - 'Proximal symphalangism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proximal symphalangism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Proximal symphalangism' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' + 'Proximal symphalangism' SubClassOf 'malformation syndrome' + 'Proximal symphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proximal symphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proximal symphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Proximal symphalangism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_132262 Label: fibroblast growth factor receptor 2 - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial scaphocephaly syndrome, McGillivray type' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crouzon disease' - 'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FGFR2-related bent bone dysplasia' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pfeiffer syndrome type 2' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pfeiffer syndrome type 3' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apert syndrome' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antley-Bixler syndrome' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis gyrata - acanthosis nigricans - craniosynostosis' - 'fibroblast growth factor receptor 2' SubClassOf 'gene' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pfeiffer syndrome type 1' - 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jackson-Weiss syndrome' + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial scaphocephaly syndrome, McGillivray type' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25.3-q26"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Pfeiffer syndrome type 3' + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FGFR2-related bent bone dysplasia' + 'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Crouzon disease' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Pfeiffer syndrome type 2' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lacrimoauriculodentodigital syndrome' + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antley-Bixler syndrome' + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis gyrata - acanthosis nigricans - craniosynostosis' + 'fibroblast growth factor receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jackson-Weiss syndrome' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Apert syndrome' + 'fibroblast growth factor receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Pfeiffer syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_3255 Label: Filippi syndrome - 'Filippi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Filippi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Filippi syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Filippi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Filippi syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Filippi syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Filippi syndrome' SubClassOf 'malformation syndrome' - 'Filippi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Filippi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Filippi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Filippi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Filippi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Filippi syndrome' SubClassOf 'malformation syndrome' + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120076 Label: transglutaminase 1 - 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acral self-healing collodion baby' - 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' - 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bathing suit ichthyosis' - 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' - 'transglutaminase 1' SubClassOf 'gene' + 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acral self-healing collodion baby' + 'transglutaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'transglutaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bathing suit ichthyosis' + 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'transglutaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Self-healing collodion baby' Class: http://www.orpha.net/ORDO/Orphanet_3253 Label: Zlotogora-Ogur syndrome - 'Zlotogora-Ogur syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zlotogora-Ogur syndrome' SubClassOf 'malformation syndrome' - 'Zlotogora-Ogur syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zlotogora-Ogur syndrome' SubClassOf 'part_of' some 'Cleft lip/palate - ectodermal dysplasia' - 'Zlotogora-Ogur syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Zlotogora-Ogur syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Zlotogora-Ogur syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zlotogora-Ogur syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Zlotogora-Ogur syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zlotogora-Ogur syndrome' SubClassOf 'malformation syndrome' + 'Zlotogora-Ogur syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zlotogora-Ogur syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft lip/palate - ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3259 Label: Syndactyly-polydactyly-ear lobe syndrome - 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'malformation syndrome' + 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3258 Label: Cenani-Lenz syndrome - 'Cenani-Lenz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cenani-Lenz syndrome' SubClassOf 'malformation syndrome' - 'Cenani-Lenz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cenani-Lenz syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Cenani-Lenz syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cenani-Lenz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Cenani-Lenz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cenani-Lenz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cenani-Lenz syndrome' SubClassOf 'malformation syndrome' + 'Cenani-Lenz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cenani-Lenz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_206707 Label: Bulbospinal muscular atrophy of adult - 'Bulbospinal muscular atrophy of adult' SubClassOf 'group of disorders' + 'Bulbospinal muscular atrophy of adult' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166265 Label: Dentinogenesis imperfecta type 3 - 'Dentinogenesis imperfecta type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Dentinogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dentinogenesis imperfecta type 3' SubClassOf 'disease' - 'Dentinogenesis imperfecta type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dentinogenesis imperfecta type 3' SubClassOf 'part_of' some 'Dentinogenesis imperfecta' + 'Dentinogenesis imperfecta type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentinogenesis imperfecta type 3' SubClassOf 'disease' + 'Dentinogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dentinogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_206704 Label: Bulbospinal muscular atrophy of children - 'Bulbospinal muscular atrophy of children' SubClassOf 'group of disorders' + 'Bulbospinal muscular atrophy of children' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121129 Label: dentin matrix acidic phosphoprotein 1 - 'dentin matrix acidic phosphoprotein 1' SubClassOf 'gene' - 'dentin matrix acidic phosphoprotein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypophosphatemic rickets' + 'dentin matrix acidic phosphoprotein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dentin matrix acidic phosphoprotein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypophosphatemic rickets' + 'dentin matrix acidic phosphoprotein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166260 Label: Dentinogenesis imperfecta type 2 - 'Dentinogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dentinogenesis imperfecta type 2' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Dentinogenesis imperfecta type 2' SubClassOf 'part_of' some 'Dentinogenesis imperfecta' - 'Dentinogenesis imperfecta type 2' SubClassOf 'disease' - 'Dentinogenesis imperfecta type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dentinogenesis imperfecta type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentinogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dentinogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentinogenesis imperfecta' + 'Dentinogenesis imperfecta type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Dentinogenesis imperfecta type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98408 Label: Constitutional megaloblastic anemia due to folate metabolism disorder - 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'group of disorders' + 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_701 Label: Alopecia universalis - 'Alopecia universalis' SubClassOf 'disease' - 'Alopecia universalis' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia universalis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Alopecia universalis' SubClassOf 'disease' + 'Alopecia universalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_700 Label: Alopecia totalis - 'Alopecia totalis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alopecia totalis' SubClassOf 'disease' - 'Alopecia totalis' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia totalis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Alopecia totalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alopecia totalis' SubClassOf 'disease' + 'Alopecia totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia totalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_369902 Label: Orofaciodigital syndrome type 14 - 'Orofaciodigital syndrome type 14' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 14' SubClassOf 'part_of' some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 14' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_706 Label: Patent arterial duct - 'Patent arterial duct' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Patent arterial duct' SubClassOf 'morphological anomaly' - 'Patent arterial duct' SubClassOf 'part_of' some 'Arterial duct anomaly' - 'Patent arterial duct' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Patent arterial duct' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Patent arterial duct' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Patent arterial duct' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Patent arterial duct' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Patent arterial duct' SubClassOf 'morphological anomaly' + 'Patent arterial duct' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Patent arterial duct' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patent arterial duct' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Patent arterial duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arterial duct anomaly' + 'Patent arterial duct' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Patent arterial duct' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_707 Label: Plague - 'Plague' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Plague' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Plague' SubClassOf 'has_prevalence' some 'Unknown' - 'Plague' SubClassOf 'disease' + 'Plague' SubClassOf 'disease' + 'Plague' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Plague' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_262137 Label: Partial deletion of the long arm of chromosome 17 - 'Partial deletion of the long arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_708 Label: Peters anomaly - 'Peters anomaly' SubClassOf 'part_of' some 'Corneoiridogoniodysgenesis' - 'Peters anomaly' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Peters anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Peters anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Peters anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peters anomaly' SubClassOf 'morphological anomaly' - 'Peters anomaly' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Peters anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Peters anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Peters anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Corneoiridogoniodysgenesis' + 'Peters anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peters anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peters anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Peters anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Peters anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Peters anomaly' SubClassOf 'morphological anomaly' + 'Peters anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3241 Label: Deafness-craniofacial syndrome - 'Deafness-craniofacial syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Deafness-craniofacial syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Deafness-craniofacial syndrome' SubClassOf 'malformation syndrome' - 'Deafness-craniofacial syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness-craniofacial syndrome' SubClassOf 'malformation syndrome' + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_709 Label: Peters plus syndrome - 'Peters plus syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Peters plus syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Peters plus syndrome' SubClassOf 'part_of' some 'Disorder of fucoglycosan synthesis' - 'Peters plus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Peters plus syndrome' SubClassOf 'malformation syndrome' - 'Peters plus syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Peters plus syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Peters plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peters plus syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'Peters plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Peters plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peters plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peters plus syndrome' SubClassOf 'malformation syndrome' + 'Peters plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fucoglycosan synthesis' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3240 Label: Central nervous system calcification - deafness - tubular acidosis - anemia - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'clinical syndrome' - 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_702 Label: Pelizaeus-Merzbacher disease - 'Pelizaeus-Merzbacher disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'Pelizaeus-Merzbacher disease' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Pelizaeus-Merzbacher disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pelizaeus-Merzbacher disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'Abnormal eye movements' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Pelizaeus-Merzbacher disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Pelizaeus-Merzbacher disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Pelizaeus-Merzbacher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Pelizaeus-Merzbacher disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Pelizaeus-Merzbacher disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Pelizaeus-Merzbacher disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' Class: http://www.orpha.net/ORDO/Orphanet_3243 Label: Sweet syndrome - 'Sweet syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sweet syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sweet syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Sweet syndrome' SubClassOf 'disease' + 'Sweet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sweet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Sweet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Sweet syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121110 Label: delta-like 3 (Drosophila) - 'delta-like 3 (Drosophila)' SubClassOf 'gene' - 'delta-like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'delta-like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'delta-like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'delta-like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_703 Label: Bullous pemphigoid - 'Bullous pemphigoid' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Bullous pemphigoid' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Bullous pemphigoid' SubClassOf 'disease' - 'Bullous pemphigoid' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Bullous pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Bullous pemphigoid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Bullous pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Bullous pemphigoid' SubClassOf 'disease' + 'Bullous pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Bullous pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Bullous pemphigoid' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3242 Label: Renpenning syndrome - 'Renpenning syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Renpenning syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Renpenning syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renpenning syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Renpenning syndrome' SubClassOf 'malformation syndrome' - 'Renpenning syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Renpenning syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Renpenning syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Renpenning syndrome' SubClassOf 'malformation syndrome' + 'Renpenning syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Renpenning syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renpenning syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_704 Label: Pemphigus vulgaris - 'Pemphigus vulgaris' SubClassOf 'disease' - 'Pemphigus vulgaris' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Pemphigus vulgaris' SubClassOf 'has_inheritance' some 'sporadic' - 'Pemphigus vulgaris' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pemphigus vulgaris' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' + 'Pemphigus vulgaris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.076"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf 'disease' + 'Pemphigus vulgaris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410026) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Pemphigus vulgaris' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_132271 Label: excision repair cross-complementation group 5 - 'excision repair cross-complementation group 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group G' - 'excision repair cross-complementation group 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' - 'excision repair cross-complementation group 5' SubClassOf 'gene' + 'excision repair cross-complementation group 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group G' + 'excision repair cross-complementation group 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q22-q34"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166277 Label: Suarez-Stickler syndrome - 'Suarez-Stickler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Suarez-Stickler syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Suarez-Stickler syndrome' SubClassOf 'malformation syndrome' - 'Suarez-Stickler syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Suarez-Stickler syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Suarez-Stickler syndrome' SubClassOf 'part_of' some 'Malformative syndrome with dentinogenesis imperfecta' + 'Suarez-Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Suarez-Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Suarez-Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformative syndrome with dentinogenesis imperfecta' + 'Suarez-Stickler syndrome' SubClassOf 'malformation syndrome' + 'Suarez-Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Suarez-Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_705 Label: Pendred syndrome - 'Pendred syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pendred syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Pendred syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pendred syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Pendred syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Pendred syndrome' SubClassOf 'malformation syndrome' + 'Pendred syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pendred syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pendred syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Pendred syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Pendred syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Pendred syndrome' SubClassOf 'malformation syndrome' + 'Pendred syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120065 Label: transforming growth factor, beta receptor 1 - 'transforming growth factor, beta receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'transforming growth factor, beta receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' - 'transforming growth factor, beta receptor 1' SubClassOf 'Major susceptibility factor in' some 'Multiple keratoacanthoma, Ferguson-Smith type' - 'transforming growth factor, beta receptor 1' SubClassOf 'gene' + 'transforming growth factor, beta receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transforming growth factor, beta receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' + 'transforming growth factor, beta receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, beta receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'transforming growth factor, beta receptor 1' SubClassOf 'Major susceptibility factor in' some 'Multiple keratoacanthoma, Ferguson-Smith type' Class: http://www.orpha.net/ORDO/Orphanet_3246 Label: Symphalangism with multiple anomalies of hands and feet - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'malformation syndrome' - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'malformation syndrome' + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_121113 Label: distal-less homeobox 3 - 'distal-less homeobox 3' SubClassOf 'gene' - 'distal-less homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' - 'distal-less homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tricho-dento-osseous syndrome' + 'distal-less homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Tricho-dento-osseous syndrome' + 'distal-less homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' + 'distal-less homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'distal-less homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3248 Label: Distal symphalangism - 'Distal symphalangism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal symphalangism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal symphalangism' SubClassOf 'part_of' some 'Joint formation defects' - 'Distal symphalangism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal symphalangism' SubClassOf 'morphological anomaly' + 'Distal symphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Distal symphalangism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal symphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal symphalangism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal symphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal symphalangism' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120069 Label: transforming growth factor, beta receptor II (70/80kDa) - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marfan syndrome type 2' - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'gene' + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marfan syndrome type 2' + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22"^^http://www.w3.org/2001/XMLSchema#string + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121117 Label: dystrophin - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duchenne muscular dystrophy' - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'dystrophin' SubClassOf 'gene' - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Becker muscular dystrophy' - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duchenne muscular dystrophy' + 'dystrophin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'dystrophin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.2"^^http://www.w3.org/2001/XMLSchema#string + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_166272 Label: Goldblatt syndrome - 'Goldblatt syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Goldblatt syndrome' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Goldblatt syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Goldblatt syndrome' SubClassOf 'part_of' some 'Malformative syndrome with dentinogenesis imperfecta' - 'Goldblatt syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Goldblatt syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Goldblatt syndrome' SubClassOf 'malformation syndrome' + 'Goldblatt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Goldblatt syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Goldblatt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Goldblatt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Goldblatt syndrome' SubClassOf 'malformation syndrome' + 'Goldblatt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformative syndrome with dentinogenesis imperfecta' + 'Goldblatt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Goldblatt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_238606 Label: Primary orthostatic tremor - 'Primary orthostatic tremor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary orthostatic tremor' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary orthostatic tremor' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary orthostatic tremor' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Primary orthostatic tremor' SubClassOf 'disease' + 'Primary orthostatic tremor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary orthostatic tremor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary orthostatic tremor' SubClassOf 'disease' + 'Primary orthostatic tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_139507 Label: African iron overload - 'African iron overload' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'African iron overload' SubClassOf 'disease' - 'African iron overload' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'African iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'African iron overload' SubClassOf 'disease' + 'African iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_710 Label: Pfeiffer syndrome - 'Pfeiffer syndrome' SubClassOf 'malformation syndrome' - 'Pfeiffer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pfeiffer syndrome' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Pfeiffer syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Pfeiffer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pfeiffer syndrome' SubClassOf 'part_of' some 'Acrocephalosyndactyly' + 'Pfeiffer syndrome' SubClassOf 'malformation syndrome' + 'Pfeiffer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrocephalosyndactyly' + 'Pfeiffer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pfeiffer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Pfeiffer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_102283 Label: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability - 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'group of disorders' + 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_712 Label: Hemolytic anemia due to glucophosphate isomerase deficiency - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'part_of' some 'Disorder of glycolysis' - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disease' - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycolysis' + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_102285 Label: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability - 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'group of disorders' + 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_711 Label: Glycogen storage disease due to phosphoglucomutase deficiency - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_102284 Label: Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability - 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'group of disorders' + 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262128 Label: Partial deletion of the long arm of chromosome 16 - 'Partial deletion of the long arm of chromosome 16' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168544 Label: Spondylometaphyseal dysplasia, Golden type - 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Golden type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, Golden type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_168549 Label: Axial spondylometaphyseal dysplasia - 'Axial spondylometaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Axial spondylometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Axial spondylometaphyseal dysplasia' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Axial spondylometaphyseal dysplasia' SubClassOf 'disease' + 'Axial spondylometaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Axial spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Axial spondylometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Axial spondylometaphyseal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_394580 Label: SH2B adaptor protein 3 - 'SH2B adaptor protein 3' SubClassOf 'gene' - 'SH2B adaptor protein 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' - 'SH2B adaptor protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' + 'SH2B adaptor protein 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'SH2B adaptor protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH2B adaptor protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.12"^^http://www.w3.org/2001/XMLSchema#string + 'SH2B adaptor protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_367619 Label: chromosome 21 open reading frame 59 - 'chromosome 21 open reading frame 59' SubClassOf 'gene' - 'chromosome 21 open reading frame 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'chromosome 21 open reading frame 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'chromosome 21 open reading frame 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.11"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 21 open reading frame 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120091 Label: thrombopoietin - 'thrombopoietin' SubClassOf 'gene' - 'thrombopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombocytosis' - 'thrombopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombocytosis with transverse limb defect' - 'thrombopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary aplastic anemia' + 'thrombopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary aplastic anemia' + 'thrombopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial thrombocytosis' + 'thrombopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombocytosis with transverse limb defect' + 'thrombopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thrombopoietin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238650 Label: Congenital primary megaureter, refluxing form - 'Congenital primary megaureter, refluxing form' SubClassOf 'part_of' some 'Congenital primary megaureter' - 'Congenital primary megaureter, refluxing form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital primary megaureter, refluxing form' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital primary megaureter, refluxing form' SubClassOf 'clinical subtype' + 'Congenital primary megaureter, refluxing form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary megaureter' + 'Congenital primary megaureter, refluxing form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital primary megaureter, refluxing form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital primary megaureter, refluxing form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital primary megaureter, refluxing form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139557 Label: X-linked distal spinal muscular atrophy - 'X-linked distal spinal muscular atrophy' SubClassOf 'disease' - 'X-linked distal spinal muscular atrophy' SubClassOf 'part_of' some 'Distal hereditary motor neuropathy' - 'X-linked distal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked distal spinal muscular atrophy' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy' - 'X-linked distal spinal muscular atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked distal spinal muscular atrophy' SubClassOf 'disease' + 'X-linked distal spinal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked distal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked distal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked distal hereditary motor neuropathy' + 'X-linked distal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_367625 Label: coiled-coil domain containing 65 - 'coiled-coil domain containing 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'coiled-coil domain containing 65' SubClassOf 'gene' + 'coiled-coil domain containing 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_238654 Label: Congenital primary megaureter, nonrefluxing and unobstructed form - 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'part_of' some 'Congenital primary megaureter' - 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'clinical subtype' + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary megaureter' + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139552 Label: Distal hereditary motor neuropathy, Jerash type - 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' - 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'disease' - 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'disease' + 'Distal hereditary motor neuropathy, Jerash type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal hereditary motor neuropathy' + 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_102237 Label: Unexplained periodic fever syndrome - 'Unexplained periodic fever syndrome' SubClassOf 'group of disorders' + 'Unexplained periodic fever syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324313 Label: 9p13 microdeletion syndrome - '9p13 microdeletion syndrome' SubClassOf 'malformation syndrome' - '9p13 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '9p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '9p13 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '9p13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 9' - '9p13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '9p13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '9p13 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '9p13 microdeletion syndrome' SubClassOf 'malformation syndrome' + '9p13 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '9p13 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '9p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 9' + '9p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_402075 Label: Familial bicuspid aortic valve - 'Familial bicuspid aortic valve' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Familial bicuspid aortic valve' SubClassOf 'morphological anomaly' - 'Familial bicuspid aortic valve' SubClassOf 'part_of' some 'Aortic malformation' + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Familial bicuspid aortic valve' SubClassOf 'morphological anomaly' + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' Class: http://www.orpha.net/ORDO/Orphanet_168555 Label: Spondylometaphyseal dysplasia, A4 type - 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, A4 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylometaphyseal dysplasia, A4 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262191 Label: Partial duplication of chromosome 1 - 'Partial duplication of chromosome 1' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_292027 Label: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa - 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.13"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_394593 Label: asparagine synthetase (glutamine-hydrolyzing) - 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf 'gene' - 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' + 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120088 Label: thrombomodulin - 'thrombomodulin' SubClassOf 'gene' - 'thrombomodulin' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' - 'thrombomodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombomodulin anomalies' + 'thrombomodulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thrombomodulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'thrombomodulin' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' + 'thrombomodulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thrombomodulin anomalies' Class: http://www.orpha.net/ORDO/Orphanet_168558 Label: 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency - '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'disease' - '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'disease' + '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_262196 Label: Partial duplication of chromosome 2 - 'Partial duplication of chromosome 2' SubClassOf 'group of disorders' + 'Partial duplication of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_394596 Label: transient receptor potential cation channel, subfamily A, member 1 - 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial episodic pain syndrome with predominantly upper body involvement' - 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial episodic pain syndrome with predominantly upper body involvement' + 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120086 Label: tyrosine hydroxylase - 'tyrosine hydroxylase' SubClassOf 'gene' - 'tyrosine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive dopa-responsive dystonia' + 'tyrosine hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive dopa-responsive dystonia' + 'tyrosine hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120083 Label: transglutaminase 5 - 'transglutaminase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acral peeling skin syndrome' - 'transglutaminase 5' SubClassOf 'gene' + 'transglutaminase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15"^^http://www.w3.org/2001/XMLSchema#string + 'transglutaminase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acral peeling skin syndrome' + 'transglutaminase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_168552 Label: Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism - 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_238666 Label: Isolated congenital hypogonadotropic hypogonadism - 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139564 Label: Hereditary sensory and autonomic neuropathy type 1B - 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_324307 Label: Severe lateral tibial bowing with short stature - 'Severe lateral tibial bowing with short stature' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe lateral tibial bowing with short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe lateral tibial bowing with short stature' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Severe lateral tibial bowing with short stature' SubClassOf 'disease' + 'Severe lateral tibial bowing with short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Severe lateral tibial bowing with short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe lateral tibial bowing with short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe lateral tibial bowing with short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Severe lateral tibial bowing with short stature' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402082 Label: Progressive myoclonic epilepsy type 5 - 'Progressive myoclonic epilepsy type 5' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Progressive myoclonic epilepsy type 5' SubClassOf 'disease' + 'Progressive myoclonic epilepsy type 5' SubClassOf 'disease' + 'Progressive myoclonic epilepsy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_292035 Label: basic helix-loop-helix family, member a9 - 'basic helix-loop-helix family, member a9' SubClassOf 'gene' - 'basic helix-loop-helix family, member a9' SubClassOf 'Major susceptibility factor in' some 'Tibial aplasia - ectrodactyly' + 'basic helix-loop-helix family, member a9' SubClassOf 'Major susceptibility factor in' some 'Tibial aplasia - ectrodactyly' + 'basic helix-loop-helix family, member a9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'basic helix-loop-helix family, member a9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_262182 Label: Partial deletion of the long arm of chromosome 22 - 'Partial deletion of the long arm of chromosome 22' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 22' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159976 Label: lens intrinsic membrane protein 2, 19kDa - 'lens intrinsic membrane protein 2, 19kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' - 'lens intrinsic membrane protein 2, 19kDa' SubClassOf 'gene' + 'lens intrinsic membrane protein 2, 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lens intrinsic membrane protein 2, 19kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'lens intrinsic membrane protein 2, 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3293 Label: Telecanthus - hypertelorism - strabismus - pes cavus - 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'malformation syndrome' - 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3294 Label: Extensor tendons of finger anomalies - 'Extensor tendons of finger anomalies' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' - 'Extensor tendons of finger anomalies' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' - 'Extensor tendons of finger anomalies' SubClassOf 'malformation syndrome' + 'Extensor tendons of finger anomalies' SubClassOf 'malformation syndrome' + 'Extensor tendons of finger anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Extensor tendons of finger anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3299 Label: Tetanus - 'Tetanus' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Tetanus' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Tetanus' SubClassOf 'disease' + 'Tetanus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Tetanus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.014"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetanus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Tetanus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3292 Label: Tel Hashomer camptodactyly syndrome - 'Tel Hashomer camptodactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tel Hashomer camptodactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tel Hashomer camptodactyly syndrome' SubClassOf 'malformation syndrome' - 'Tel Hashomer camptodactyly syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' + 'Tel Hashomer camptodactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tel Hashomer camptodactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tel Hashomer camptodactyly syndrome' SubClassOf 'malformation syndrome' + 'Tel Hashomer camptodactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tel Hashomer camptodactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tel Hashomer camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_3291 Label: Teebi-Shaltout syndrome - 'Teebi-Shaltout syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Teebi-Shaltout syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Teebi-Shaltout syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Teebi-Shaltout syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Teebi-Shaltout syndrome' SubClassOf 'malformation syndrome' - 'Teebi-Shaltout syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Teebi-Shaltout syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Teebi-Shaltout syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Teebi-Shaltout syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Teebi-Shaltout syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Teebi-Shaltout syndrome' SubClassOf 'malformation syndrome' + 'Teebi-Shaltout syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Teebi-Shaltout syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_139536 Label: Distal hereditary motor neuropathy type 5 - 'Distal hereditary motor neuropathy type 5' SubClassOf 'disease' - 'Distal hereditary motor neuropathy type 5' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' - 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Distal hereditary motor neuropathy type 5' SubClassOf 'disease' + 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal hereditary motor neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal hereditary motor neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_79501 Label: Punctate palmoplantar keratoderma type 1 - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'disease' - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'part_of' some 'Isolated punctate palmoplantar keratoderma' - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Punctate palmoplantar keratoderma type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'disease' + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Punctate palmoplantar keratoderma type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Punctate palmoplantar keratoderma type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated punctate palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79500 Label: Autosomal recessive deafness-onychodystrophy syndrome - 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'clinical subtype' - 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'part_of' some 'Deafness - onychodystrophy' - 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'clinical subtype' + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deafness - onychodystrophy' + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_79503 Label: Ichthyosis hystrix of Curth-Macklin - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'disease' - 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_inheritance' some 'sporadic' + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79502 Label: Punctate palmoplantar keratoderma type 2 - 'Punctate palmoplantar keratoderma type 2' SubClassOf 'part_of' some 'Isolated punctate palmoplantar keratoderma' - 'Punctate palmoplantar keratoderma type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Punctate palmoplantar keratoderma type 2' SubClassOf 'disease' + 'Punctate palmoplantar keratoderma type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Punctate palmoplantar keratoderma type 2' SubClassOf 'disease' + 'Punctate palmoplantar keratoderma type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated punctate palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_238637 Label: Megacystis-megaureter syndrome - 'Megacystis-megaureter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megacystis-megaureter syndrome' SubClassOf 'disease' - 'Megacystis-megaureter syndrome' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' + 'Megacystis-megaureter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Megacystis-megaureter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megacystis-megaureter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Megacystis-megaureter syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79504 Label: Ichthyosis hystrix gravior - 'Ichthyosis hystrix gravior' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Ichthyosis hystrix gravior' SubClassOf 'disease' + 'Ichthyosis hystrix gravior' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Ichthyosis hystrix gravior' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262173 Label: Partial deletion of the long arm of chromosome 21 - 'Partial deletion of the long arm of chromosome 21' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 21' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140874 Label: Joubert syndrome and related disorders - 'Joubert syndrome and related disorders' SubClassOf 'group of disorders' + 'Joubert syndrome and related disorders' SubClassOf 'group of disorders' + 'Joubert syndrome and related disorders' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome and related disorders' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome and related disorders' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409986) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "666.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Joubert syndrome and related disorders' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Joubert syndrome and related disorders' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Joubert syndrome and related disorders' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome and related disorders' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Joubert syndrome and related disorders' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3282 Label: Multifocal atrial tachycardia - 'Multifocal atrial tachycardia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multifocal atrial tachycardia' SubClassOf 'part_of' some 'Non-genetic cardiac rhythm disease' - 'Multifocal atrial tachycardia' SubClassOf 'has_inheritance' some 'sporadic' - 'Multifocal atrial tachycardia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Multifocal atrial tachycardia' SubClassOf 'disease' + 'Multifocal atrial tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multifocal atrial tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multifocal atrial tachycardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-genetic cardiac rhythm disease' + 'Multifocal atrial tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Multifocal atrial tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multifocal atrial tachycardia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159980 Label: lipase, hepatic - 'lipase, hepatic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' - 'lipase, hepatic' SubClassOf 'gene' + 'lipase, hepatic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' + 'lipase, hepatic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, hepatic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3283 Label: His bundle tachycardia - 'His bundle tachycardia' SubClassOf 'disease' - 'His bundle tachycardia' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'His bundle tachycardia' SubClassOf 'has_prevalence' some 'Unknown' - 'His bundle tachycardia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'His bundle tachycardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'His bundle tachycardia' SubClassOf 'disease' + 'His bundle tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'His bundle tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'His bundle tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3286 Label: Catecholaminergic polymorphic ventricular tachycardia - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'disease' + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'disease' + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159984 Label: paroxysmal nonkinesigenic dyskinesia - 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' - 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'gene' + 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'paroxysmal nonkinesigenic dyskinesia' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paroxysmal nonkinesigenic dyskinesia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3287 Label: Takayasu arteritis - 'Takayasu arteritis' SubClassOf 'disease' - 'Takayasu arteritis' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Takayasu arteritis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Takayasu arteritis' SubClassOf 'part_of' some 'Rare vascular disease' - 'Takayasu arteritis' SubClassOf 'has_inheritance' some 'sporadic' - 'Takayasu arteritis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Takayasu arteritis' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf 'disease' + 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410119) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410110) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410110) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.78"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Takayasu arteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_159982 Label: insulin-like growth factor binding protein, acid labile subunit - 'insulin-like growth factor binding protein, acid labile subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to primary acid-labile subunit deficiency' - 'insulin-like growth factor binding protein, acid labile subunit' SubClassOf 'gene' + 'insulin-like growth factor binding protein, acid labile subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to primary acid-labile subunit deficiency' + 'insulin-like growth factor binding protein, acid labile subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor binding protein, acid labile subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3289 Label: Taurodontism - 'Taurodontism' SubClassOf 'morphological anomaly' - 'Taurodontism' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Taurodontism' SubClassOf 'morphological anomaly' + 'Taurodontism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_238642 Label: Primary megaureter, adult-onset form - 'Primary megaureter, adult-onset form' SubClassOf 'part_of' some 'Congenital primary megaureter' - 'Primary megaureter, adult-onset form' SubClassOf 'clinical subtype' - 'Primary megaureter, adult-onset form' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary megaureter, adult-onset form' SubClassOf 'has_prevalence' some 'Unknown' + 'Primary megaureter, adult-onset form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary megaureter, adult-onset form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary megaureter, adult-onset form' SubClassOf 'clinical subtype' + 'Primary megaureter, adult-onset form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_3280 Label: Syringomyelia - 'Syringomyelia' SubClassOf 'has_inheritance' some 'sporadic' - 'Syringomyelia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syringomyelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Syringomyelia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Syringomyelia' SubClassOf 'group of disorders' - 'Syringomyelia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Syringomyelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.94"^^http://www.w3.org/2001/XMLSchema#string) + 'Syringomyelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Syringomyelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syringomyelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Syringomyelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Syringomyelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Syringomyelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Syringomyelia' SubClassOf 'group of disorders' + 'Syringomyelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syringomyelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_367631 Label: sperm associated antigen 1 - 'sperm associated antigen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'sperm associated antigen 1' SubClassOf 'gene' + 'sperm associated antigen 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sperm associated antigen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'sperm associated antigen 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139547 Label: Distal spinal muscular atrophy type 3 - 'Distal spinal muscular atrophy type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Distal spinal muscular atrophy type 3' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' - 'Distal spinal muscular atrophy type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal spinal muscular atrophy type 3' SubClassOf 'disease' + 'Distal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal hereditary motor neuropathy' + 'Distal spinal muscular atrophy type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Distal spinal muscular atrophy type 3' SubClassOf 'disease' + 'Distal spinal muscular atrophy type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_324321 Label: Sinoatrial node dysfunction and deafness - 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sinoatrial node dysfunction and deafness' SubClassOf 'disease' - 'Sinoatrial node dysfunction and deafness' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sinoatrial node dysfunction and deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sinoatrial node dysfunction and deafness' SubClassOf 'disease' + 'Sinoatrial node dysfunction and deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sinoatrial node dysfunction and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Sinoatrial node dysfunction and deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sinoatrial node dysfunction and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_238646 Label: Congenital primary megaureter, obstructed form - 'Congenital primary megaureter, obstructed form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital primary megaureter, obstructed form' SubClassOf 'clinical subtype' - 'Congenital primary megaureter, obstructed form' SubClassOf 'part_of' some 'Congenital primary megaureter' - 'Congenital primary megaureter, obstructed form' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital primary megaureter, obstructed form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital primary megaureter, obstructed form' SubClassOf 'clinical subtype' + 'Congenital primary megaureter, obstructed form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary megaureter' + 'Congenital primary megaureter, obstructed form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital primary megaureter, obstructed form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_325976 Label: sodium channel, voltage-gated, type X, alpha subunit - 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' - 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sodium channelopathy-related small fiber neuropathy' - 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' - 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.2"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Sodium channelopathy-related small fiber neuropathy' + 'sodium channel, voltage-gated, type X, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' Class: http://www.orpha.net/ORDO/Orphanet_314950 Label: Primary hypereosinophilic syndrome - 'Primary hypereosinophilic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary hypereosinophilic syndrome' SubClassOf 'clinical subtype' - 'Primary hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary hypereosinophilic syndrome' SubClassOf 'part_of' some 'Hypereosinophilic syndrome' + 'Primary hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary hypereosinophilic syndrome' SubClassOf 'clinical subtype' + 'Primary hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypereosinophilic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_331190 Label: Immunodeficiency due to ficolin3 deficiency - 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'disease' + 'Immunodeficiency due to ficolin3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314946 Label: Mycobacterium xenopi infection - 'Mycobacterium xenopi infection' SubClassOf 'has_prevalence' some 'Unknown' - 'Mycobacterium xenopi infection' SubClassOf 'disease' - 'Mycobacterium xenopi infection' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Mycobacterium xenopi infection' SubClassOf 'has_inheritance' some 'sporadic' - 'Mycobacterium xenopi infection' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mycobacterium xenopi infection' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycobacterium xenopi infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Mycobacterium xenopi infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mycobacterium xenopi infection' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363245 Label: Genetic progeroid syndrome - 'Genetic progeroid syndrome' SubClassOf 'group of disorders' + 'Genetic progeroid syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331193 Label: Other immunodeficiency syndromes due to defects in innate immunity - 'Other immunodeficiency syndromes due to defects in innate immunity' SubClassOf 'group of disorders' + 'Other immunodeficiency syndromes due to defects in innate immunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314970 Label: Lymphoid hypereosinophilic syndrome - 'Lymphoid hypereosinophilic syndrome' SubClassOf 'clinical subtype' - 'Lymphoid hypereosinophilic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphoid hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Lymphoid hypereosinophilic syndrome' SubClassOf 'clinical subtype' + 'Lymphoid hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_261501 Label: Atypical Norrie disease due to monosomy Xp11.3 - 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'has_prevalence' some 'Unknown' - 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome X' - 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'malformation syndrome' + 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome X' + 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314978 Label: X-linked non progressive cerebellar ataxia - 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked non progressive cerebellar ataxia' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked non progressive cerebellar ataxia' SubClassOf 'disease' - 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked non progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked non progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked non progressive cerebellar ataxia' SubClassOf 'disease' + 'X-linked non progressive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_58220 Label: Microscopic colitis - 'Microscopic colitis' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' - 'Microscopic colitis' SubClassOf 'disease' - 'Microscopic colitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Microscopic colitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Microscopic colitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microscopic colitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Microscopic colitis' SubClassOf 'disease' + 'Microscopic colitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' + 'Microscopic colitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98580 Label: Palpebral tumor - 'Palpebral tumor' SubClassOf 'group of disorders' + 'Palpebral tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98582 Label: Benign tumor of palpebral epidermis - 'Benign tumor of palpebral epidermis' SubClassOf 'group of disorders' + 'Benign tumor of palpebral epidermis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98581 Label: Palpebral epidermal tumor - 'Palpebral epidermal tumor' SubClassOf 'group of disorders' + 'Palpebral epidermal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269008 Label: Isolated focal cortical dysplasia type IIb - 'Isolated focal cortical dysplasia type IIb' SubClassOf 'histopathological subtype' - 'Isolated focal cortical dysplasia type IIb' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type IIb' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia type II' + 'Isolated focal cortical dysplasia type IIb' SubClassOf 'histopathological subtype' + 'Isolated focal cortical dysplasia type IIb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia type II' Class: http://www.orpha.net/ORDO/Orphanet_296690 Label: dynein, axonemal, assembly factor 3 - 'dynein, axonemal, assembly factor 3' SubClassOf 'gene' - 'dynein, axonemal, assembly factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, assembly factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.42"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, assembly factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, assembly factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_98588 Label: Palpebral nevus - 'Palpebral nevus' SubClassOf 'group of disorders' + 'Palpebral nevus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98587 Label: Palpebral lentiginosis - 'Palpebral lentiginosis' SubClassOf 'group of disorders' + 'Palpebral lentiginosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98589 Label: Palpebral malignant melanoma - 'Palpebral malignant melanoma' SubClassOf 'group of disorders' + 'Palpebral malignant melanoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_240371 Label: Syndromic obesity - 'Syndromic obesity' SubClassOf 'group of disorders' + 'Syndromic obesity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98584 Label: Malignant tumor of palpebral epidermis - 'Malignant tumor of palpebral epidermis' SubClassOf 'group of disorders' + 'Malignant tumor of palpebral epidermis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98583 Label: Precancerous lesion of palpebral epidermis - 'Precancerous lesion of palpebral epidermis' SubClassOf 'group of disorders' + 'Precancerous lesion of palpebral epidermis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269001 Label: Isolated focal cortical dysplasia type IIa - 'Isolated focal cortical dysplasia type IIa' SubClassOf 'part_of' some 'Isolated focal cortical dysplasia type II' - 'Isolated focal cortical dysplasia type IIa' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated focal cortical dysplasia type IIa' SubClassOf 'histopathological subtype' + 'Isolated focal cortical dysplasia type IIa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal cortical dysplasia type II' + 'Isolated focal cortical dysplasia type IIa' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98586 Label: Pigmented palpebral tumor - 'Pigmented palpebral tumor' SubClassOf 'group of disorders' + 'Pigmented palpebral tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98585 Label: Palpebral sebaceous gland tumor - 'Palpebral sebaceous gland tumor' SubClassOf 'group of disorders' + 'Palpebral sebaceous gland tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_296697 Label: RNA binding motif protein 8A - 'RNA binding motif protein 8A' SubClassOf 'gene' - 'RNA binding motif protein 8A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia - absent radius' + 'RNA binding motif protein 8A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RNA binding motif protein 8A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 8A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia - absent radius' Class: http://www.orpha.net/ORDO/Orphanet_244305 Label: Dominant hypophosphatemia with nephrolithiasis or osteoporosis - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'disease' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'disease' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_314962 Label: Secondary hypereosinophilic syndrome - 'Secondary hypereosinophilic syndrome' SubClassOf 'part_of' some 'Hypereosinophilic syndrome' - 'Secondary hypereosinophilic syndrome' SubClassOf 'clinical subtype' - 'Secondary hypereosinophilic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Secondary hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Secondary hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypereosinophilic syndrome' + 'Secondary hypereosinophilic syndrome' SubClassOf 'clinical subtype' + 'Secondary hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_302903 Label: NOP2/Sun RNA methyltransferase family, member 2 - 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' - 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf 'gene' + 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' + 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.32"^^http://www.w3.org/2001/XMLSchema#string + 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NOP2/Sun RNA methyltransferase family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98593 Label: Neurogenic palpebral tumor - 'Neurogenic palpebral tumor' SubClassOf 'group of disorders' + 'Neurogenic palpebral tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98592 Label: Palpebral tumor with a vascular malformation - 'Palpebral tumor with a vascular malformation' SubClassOf 'group of disorders' + 'Palpebral tumor with a vascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98591 Label: Mesenchymatous palpebral tumor - 'Mesenchymatous palpebral tumor' SubClassOf 'group of disorders' + 'Mesenchymatous palpebral tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98590 Label: Palpebral piliary tumor - 'Palpebral piliary tumor' SubClassOf 'group of disorders' + 'Palpebral piliary tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98599 Label: Eyebrow/eyelashes structural anomaly - 'Eyebrow/eyelashes structural anomaly' SubClassOf 'group of disorders' + 'Eyebrow/eyelashes structural anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98598 Label: Congenital absence of the eyebrow/eyelashes - 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'group of disorders' + 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98597 Label: Eyelashes hypertrophy - 'Eyelashes hypertrophy' SubClassOf 'group of disorders' + 'Eyelashes hypertrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98596 Label: Eyebrow hypertrophy - 'Eyebrow hypertrophy' SubClassOf 'group of disorders' + 'Eyebrow hypertrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98595 Label: Eyebrow/eyelashes hypertrichosis - 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'group of disorders' + 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98594 Label: Rare eyebrow/eyelashes anomaly - 'Rare eyebrow/eyelashes anomaly' SubClassOf 'group of disorders' + 'Rare eyebrow/eyelashes anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100980 Label: Autosomal dominant pure spastic paraplegia - 'Autosomal dominant pure spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal dominant pure spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autosomal dominant pure spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant pure spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant pure spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal dominant pure spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98559 Label: Rare palpebral, lacrimal system and conjunctival disease - 'Rare palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' + 'Rare palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100985 Label: Autosomal dominant spastic paraplegia type 4 - 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.91"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_199630 Label: Isolated cerebellar vermis hypoplasia - 'Isolated cerebellar vermis hypoplasia' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' - 'Isolated cerebellar vermis hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated cerebellar vermis hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar vermis' + 'Isolated cerebellar vermis hypoplasia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_261524 Label: Paternal uniparental disomy of chromosome X - 'Paternal uniparental disomy of chromosome X' SubClassOf 'has_prevalence' some 'Unknown' - 'Paternal uniparental disomy of chromosome X' SubClassOf 'malformation syndrome' - 'Paternal uniparental disomy of chromosome X' SubClassOf 'part_of' some 'Uniparental disomy of chromosome X' + 'Paternal uniparental disomy of chromosome X' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_100986 Label: Autosomal recessive spastic paraplegia type 5A - 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 5A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 5A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98558 Label: Rare eye disease due to a differentiation anomaly - 'Rare eye disease due to a differentiation anomaly' SubClassOf 'group of disorders' + 'Rare eye disease due to a differentiation anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314993 Label: Cataract-congenital heart disease-neural tube defect syndrome - 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'malformation syndrome' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'malformation syndrome' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_58208 Label: Pericarditis - 'Pericarditis' SubClassOf 'disease' - 'Pericarditis' SubClassOf 'part_of' some 'Rare cardiac disease' - 'Pericarditis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pericarditis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pericarditis' SubClassOf 'has_prevalence' some 'Unknown' + 'Pericarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac disease' + 'Pericarditis' SubClassOf 'disease' + 'Pericarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pericarditis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_100988 Label: Autosomal dominant spastic paraplegia type 6 - 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100981 Label: Autosomal recessive complex spastic paraplegia - 'Autosomal recessive complex spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal recessive complex spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199633 Label: Cerebral malformation - 'Cerebral malformation' SubClassOf 'group of disorders' + 'Cerebral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100982 Label: Autosomal recessive pure spastic paraplegia - 'Autosomal recessive pure spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal recessive pure spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100984 Label: Autosomal dominant spastic paraplegia type 3 - 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant spastic paraplegia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_261529 Label: Ring chromosome Y - 'Ring chromosome Y' SubClassOf 'malformation syndrome' - 'Ring chromosome Y' SubClassOf 'has_prevalence' some 'Unknown' - 'Ring chromosome Y' SubClassOf 'part_of' some 'Chromosome Y structural anomaly' + 'Ring chromosome Y' SubClassOf 'malformation syndrome' + 'Ring chromosome Y' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosome Y structural anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98561 Label: Eyelid malformation - 'Eyelid malformation' SubClassOf 'group of disorders' + 'Eyelid malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98562 Label: Cryptophthalmia - 'Cryptophthalmia' SubClassOf 'group of disorders' + 'Cryptophthalmia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3201 Label: Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'malformation syndrome' - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'malformation syndrome' + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199627 Label: Atypical autism - 'Atypical autism' SubClassOf 'part_of' some 'Rare pervasive developmental disorder' - 'Atypical autism' SubClassOf 'disease' + 'Atypical autism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pervasive developmental disorder' + 'Atypical autism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98563 Label: Microblepharon - ablephara - 'Microblepharon - ablephara' SubClassOf 'group of disorders' + 'Microblepharon - ablephara' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98564 Label: Eyelid border anomaly - 'Eyelid border anomaly' SubClassOf 'group of disorders' + 'Eyelid border anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98565 Label: Syndromic ankyloblepharon - 'Syndromic ankyloblepharon' SubClassOf 'group of disorders' + 'Syndromic ankyloblepharon' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100979 Label: Autosomal dominant complex spastic paraplegia - 'Autosomal dominant complex spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal dominant complex spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant complex spastic paraplegia' SubClassOf 'group of disorders' + 'Autosomal dominant complex spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autosomal dominant complex spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98566 Label: Syndromic palpebral coloboma - 'Syndromic palpebral coloboma' SubClassOf 'group of disorders' + 'Syndromic palpebral coloboma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100978 Label: Cloverleaf skull - asphyxiating thoracic dysplasia - 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'malformation syndrome' - 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98567 Label: Eyelids malposition disorder - 'Eyelids malposition disorder' SubClassOf 'group of disorders' + 'Eyelids malposition disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98568 Label: Congenital entropion - 'Congenital entropion' SubClassOf 'group of disorders' + 'Congenital entropion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3208 Label: Isolated succinate-CoQ reductase deficiency - 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' - 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'disease' - 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'disease' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3206 Label: St�ve-Wiedemann syndrome - 'St�ve-Wiedemann syndrome' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'St�ve-Wiedemann syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'St�ve-Wiedemann syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'St�ve-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'St�ve-Wiedemann syndrome' SubClassOf 'malformation syndrome' + 'St�ve-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'St�ve-Wiedemann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'St�ve-Wiedemann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'St�ve-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'St�ve-Wiedemann syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3207 Label: White matter hypoplasia - corpus callosum agenesis - intellectual disability - 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'malformation syndrome' - 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3204 Label: Stormorken-Sjaastad-Langslet syndrome - 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'disease' - 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'disease' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_3205 Label: Sturge-Weber syndrome - 'Sturge-Weber syndrome' SubClassOf 'malformation syndrome' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Sturge-Weber syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sturge-Weber syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Palpebral tumor with a vascular malformation' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Sturge-Weber syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Cerebral diseases of vascular origin with epilepsy' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Conjunctival hemangioma or hemolymphangioma' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral diseases of vascular origin with epilepsy' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conjunctival hemangioma or hemolymphangioma' + 'Sturge-Weber syndrome' SubClassOf 'malformation syndrome' + 'Sturge-Weber syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Sturge-Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sturge-Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Sturge-Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sturge-Weber syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sturge-Weber syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor with a vascular malformation' + 'Sturge-Weber syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_3202 Label: Dehydrated hereditary stomatocytosis - 'Dehydrated hereditary stomatocytosis' SubClassOf 'disease' - 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dehydrated hereditary stomatocytosis' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dehydrated hereditary stomatocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Dehydrated hereditary stomatocytosis' SubClassOf 'disease' + 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dehydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98560 Label: Rare palpebral disease - 'Rare palpebral disease' SubClassOf 'group of disorders' + 'Rare palpebral disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3203 Label: Overhydrated hereditary stomatocytosis - 'Overhydrated hereditary stomatocytosis' SubClassOf 'disease' - 'Overhydrated hereditary stomatocytosis' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Overhydrated hereditary stomatocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Overhydrated hereditary stomatocytosis' SubClassOf 'disease' + 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Overhydrated hereditary stomatocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Overhydrated hereditary stomatocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_100990 Label: Autosomal dominant spastic paraplegia type 9 - 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 9' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_302925 Label: splicing factor 3b, subunit 4, 49kDa - 'splicing factor 3b, subunit 4, 49kDa' SubClassOf 'gene' - 'splicing factor 3b, subunit 4, 49kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nager syndrome' + 'splicing factor 3b, subunit 4, 49kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nager syndrome' + 'splicing factor 3b, subunit 4, 49kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'splicing factor 3b, subunit 4, 49kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100991 Label: Autosomal dominant spastic paraplegia type 10 - 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_363203 Label: Ring chromosome - 'Ring chromosome' SubClassOf 'group of disorders' + 'Ring chromosome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_302923 Label: phospholipase C, beta 4 - 'phospholipase C, beta 4' SubClassOf 'gene' - 'phospholipase C, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' + 'phospholipase C, beta 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' + 'phospholipase C, beta 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase C, beta 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_302920 Label: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 - 'guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3' SubClassOf 'gene' - 'guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' + 'guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Auriculocondylar syndrome' + 'guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100998 Label: Autosomal dominant spastic paraplegia type 17 - 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' - 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_100999 Label: Autosomal dominant spastic paraplegia type 19 - 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 19' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 19' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_199642 Label: Isolated congenital microcephaly - 'Isolated congenital microcephaly' SubClassOf 'group of disorders' + 'Isolated congenital microcephaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100996 Label: Autosomal recessive spastic paraplegia type 15 - 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 15' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98569 Label: Secondary entropion - 'Secondary entropion' SubClassOf 'group of disorders' + 'Secondary entropion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100997 Label: X-linked spastic paraplegia type 16 - 'X-linked spastic paraplegia type 16' SubClassOf 'part_of' some 'Pure or complex X-linked spastic paraplegia' - 'X-linked spastic paraplegia type 16' SubClassOf 'disease' - 'X-linked spastic paraplegia type 16' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spastic paraplegia type 16' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked spastic paraplegia type 16' SubClassOf 'disease' + 'X-linked spastic paraplegia type 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex X-linked spastic paraplegia' + 'X-linked spastic paraplegia type 16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spastic paraplegia type 16' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100994 Label: Autosomal dominant spastic paraplegia type 13 - 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant spastic paraplegia type 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_199647 Label: Isolated encephalocele - 'Isolated encephalocele' SubClassOf 'morphological anomaly' - 'Isolated encephalocele' SubClassOf 'part_of' some 'Cephalocele' + 'Isolated encephalocele' SubClassOf 'morphological anomaly' + 'Isolated encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cephalocele' Class: http://www.orpha.net/ORDO/Orphanet_261519 Label: Maternal uniparental disomy of chromosome X - 'Maternal uniparental disomy of chromosome X' SubClassOf 'malformation syndrome' - 'Maternal uniparental disomy of chromosome X' SubClassOf 'has_prevalence' some 'Unknown' - 'Maternal uniparental disomy of chromosome X' SubClassOf 'part_of' some 'Uniparental disomy of chromosome X' + 'Maternal uniparental disomy of chromosome X' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_100995 Label: Autosomal recessive spastic paraplegia type 14 - 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 14' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100993 Label: Autosomal dominant spastic paraplegia type 12 - 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 12' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98574 Label: Syndromic epicanthus - 'Syndromic epicanthus' SubClassOf 'group of disorders' + 'Syndromic epicanthus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199639 Label: Syndrome with corpus callosum agenesis /dysgenesis as a major feature - 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' SubClassOf 'group of disorders' + 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98575 Label: Telecanthus - 'Telecanthus' SubClassOf 'group of disorders' + 'Telecanthus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3210 Label: Summitt syndrome - 'Summitt syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Summitt syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Summitt syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Summitt syndrome' SubClassOf 'malformation syndrome' - 'Summitt syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Summitt syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Summitt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Summitt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Summitt syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Summitt syndrome' SubClassOf 'malformation syndrome' + 'Summitt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_98572 Label: Canthal anomaly - 'Canthal anomaly' SubClassOf 'group of disorders' + 'Canthal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98573 Label: Epicanthal fold - 'Epicanthal fold' SubClassOf 'group of disorders' + 'Epicanthal fold' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98578 Label: Ptosis - 'Ptosis' SubClassOf 'group of disorders' + 'Ptosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98579 Label: Congenital upper palpebral retraction - 'Congenital upper palpebral retraction' SubClassOf 'group of disorders' + 'Congenital upper palpebral retraction' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98576 Label: Malposition of external canthus - 'Malposition of external canthus' SubClassOf 'group of disorders' + 'Malposition of external canthus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_296684 Label: DnaJ (Hsp40) homolog, subfamily B, member 6 - 'DnaJ (Hsp40) homolog, subfamily B, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1D' - 'DnaJ (Hsp40) homolog, subfamily B, member 6' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily B, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily B, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'DnaJ (Hsp40) homolog, subfamily B, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1D' Class: http://www.orpha.net/ORDO/Orphanet_98577 Label: Kinetic eyelid anomaly - 'Kinetic eyelid anomaly' SubClassOf 'group of disorders' + 'Kinetic eyelid anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100989 Label: Autosomal dominant spastic paraplegia type 8 - 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 8' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_3217 Label: Deafness - small bowel diverticulosis - neuropathy - 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'disease' + 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3218 Label: Deafness - epiphyseal dysplasia - short stature - 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'malformation syndrome' - 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'malformation syndrome' + 'Deafness - epiphyseal dysplasia - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3219 Label: Fountain syndrome - 'Fountain syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Fountain syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fountain syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Fountain syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fountain syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fountain syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fountain syndrome' SubClassOf 'malformation syndrome' - 'Fountain syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fountain syndrome' SubClassOf 'malformation syndrome' + 'Fountain syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fountain syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fountain syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fountain syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98570 Label: Congenital ectropion - 'Congenital ectropion' SubClassOf 'group of disorders' + 'Congenital ectropion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98571 Label: Secondary ectropion - 'Secondary ectropion' SubClassOf 'group of disorders' + 'Secondary ectropion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3214 Label: Deaf blind hypopigmentation syndrome, Yemenite type - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'malformation syndrome' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'malformation syndrome' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_360484 Label: dyslexia susceptibility 1 candidate 1 - 'dyslexia susceptibility 1 candidate 1' SubClassOf 'gene' - 'dyslexia susceptibility 1 candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dyslexia susceptibility 1 candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'dyslexia susceptibility 1 candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dyslexia susceptibility 1 candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_360481 Label: armadillo repeat containing 4 - 'armadillo repeat containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'armadillo repeat containing 4' SubClassOf 'gene' + 'armadillo repeat containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'armadillo repeat containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'armadillo repeat containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1-p11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_302951 Label: potassium voltage-gated channel, Shal-related subfamily, member 3 - 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 19/22' - 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf 'gene' - 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 19/22' + 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Brugada syndrome' + 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, Shal-related subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98539 Label: Early-onset ataxia with dementia - 'Early-onset ataxia with dementia' SubClassOf 'group of disorders' + 'Early-onset ataxia with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98538 Label: Ataxia with dementia - 'Ataxia with dementia' SubClassOf 'group of disorders' + 'Ataxia with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98543 Label: Metabolic disease with dementia - 'Metabolic disease with dementia' SubClassOf 'group of disorders' + 'Metabolic disease with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261552 Label: Mowat-Wilson syndrome due to a point mutation - 'Mowat-Wilson syndrome due to a point mutation' SubClassOf 'part_of' some 'Mowat-Wilson syndrome' - 'Mowat-Wilson syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Mowat-Wilson syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mowat-Wilson syndrome' + 'Mowat-Wilson syndrome due to a point mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98544 Label: Cerebral lipidosis with dementia - 'Cerebral lipidosis with dementia' SubClassOf 'group of disorders' + 'Cerebral lipidosis with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331187 Label: Immunodeficiency due to MASP-2 deficiency - 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'disease' + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'disease' + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3222 Label: Phosphoribosylpyrophosphate synthetase superactivity - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'part_of' some 'Disorder of purine metabolism' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98540 Label: Late-onset ataxia with dementia - 'Late-onset ataxia with dementia' SubClassOf 'group of disorders' + 'Late-onset ataxia with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331184 Label: Constitutional neutropenia with extra-haematopoietic manifestations - 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'group of disorders' + 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3220 Label: Deafness - enamel hypoplasia - nail defects - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'malformation syndrome' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Deafness - enamel hypoplasia - nail defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'malformation syndrome' + 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deafness - enamel hypoplasia - nail defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - enamel hypoplasia - nail defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Deafness - enamel hypoplasia - nail defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Deafness - enamel hypoplasia - nail defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_98542 Label: Infectious disease with dementia - 'Infectious disease with dementia' SubClassOf 'group of disorders' + 'Infectious disease with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3221 Label: Generalized resistance to thyroid hormone - 'Generalized resistance to thyroid hormone' SubClassOf 'disease' - 'Generalized resistance to thyroid hormone' SubClassOf 'part_of' some 'Rare hyperthyroidism' - 'Generalized resistance to thyroid hormone' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Generalized resistance to thyroid hormone' SubClassOf 'disease' + 'Generalized resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Generalized resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_3226 Label: Deafness - lymphedema - leukemia - 'Deafness - lymphedema - leukemia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - lymphedema - leukemia' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Deafness - lymphedema - leukemia' SubClassOf 'part_of' some 'Tumor of hematopoietic and lymphoid tissues' - 'Deafness - lymphedema - leukemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Deafness - lymphedema - leukemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - lymphedema - leukemia' SubClassOf 'malformation syndrome' - 'Deafness - lymphedema - leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - lymphedema - leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Deafness - lymphedema - leukemia' SubClassOf 'malformation syndrome' + 'Deafness - lymphedema - leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Deafness - lymphedema - leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of hematopoietic and lymphoid tissues' Class: http://www.orpha.net/ORDO/Orphanet_3224 Label: Deafness - genital anomalies - metacarpal and metatarsal synostosis - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'malformation syndrome' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'malformation syndrome' + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3225 Label: Hearing loss - familial salivary gland insensitivity to aldosterone - 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'malformation syndrome' - 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364399 Label: ceramide synthase 3 - 'ceramide synthase 3' SubClassOf 'Role in the phenotype of' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' - 'ceramide synthase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' - 'ceramide synthase 3' SubClassOf 'gene' + 'ceramide synthase 3' SubClassOf 'Role in the phenotype of' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ceramide synthase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'ceramide synthase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'ceramide synthase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_302946 Label: UV-stimulated scaffold protein A - 'UV-stimulated scaffold protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' - 'UV-stimulated scaffold protein A' SubClassOf 'gene' + 'UV-stimulated scaffold protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'UV-sensitive syndrome' + 'UV-stimulated scaffold protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UV-stimulated scaffold protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_364390 Label: THO complex 6 homolog (Drosophila) - 'THO complex 6 homolog (Drosophila)' SubClassOf 'gene' - 'THO complex 6 homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' + 'THO complex 6 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'THO complex 6 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'THO complex 6 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' Class: http://www.orpha.net/ORDO/Orphanet_100973 Label: FRAXE intellectual disability - 'FRAXE intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'FRAXE intellectual disability' SubClassOf 'disease' - 'FRAXE intellectual disability' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'FRAXE intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'FRAXE intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'FRAXE intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'FRAXE intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'FRAXE intellectual disability' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_360491 Label: radial spoke head 1 homolog (Chlamydomonas) - 'radial spoke head 1 homolog (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'radial spoke head 1 homolog (Chlamydomonas)' SubClassOf 'gene' + 'radial spoke head 1 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'radial spoke head 1 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'radial spoke head 1 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_100976 Label: Bathing suit ichthyosis - 'Bathing suit ichthyosis' SubClassOf 'disease' - 'Bathing suit ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bathing suit ichthyosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bathing suit ichthyosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bathing suit ichthyosis' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' + 'Bathing suit ichthyosis' SubClassOf 'disease' + 'Bathing suit ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bathing suit ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bathing suit ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bathing suit ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bathing suit ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_261537 Label: Mowat-Wilson syndrome due to monosomy 2q22 - 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'part_of' some 'Mowat-Wilson syndrome' - 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'etiological subtype' + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mowat-Wilson syndrome' + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98549 Label: Cerebrovascular dementia - 'Cerebrovascular dementia' SubClassOf 'group of disorders' + 'Cerebrovascular dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100974 Label: FRAXF syndrome - 'FRAXF syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'FRAXF syndrome' SubClassOf 'disease' - 'FRAXF syndrome' SubClassOf 'part_of' some 'Rare genetic disease' + 'FRAXF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' + 'FRAXF syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_261534 Label: 49,XXXYY syndrome - '49,XXXYY syndrome' SubClassOf 'malformation syndrome' - '49,XXXYY syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '49,XXXYY syndrome' SubClassOf 'part_of' some 'X and Y chromosomal anomaly' + '49,XXXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X and Y chromosomal anomaly' + '49,XXXYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '49,XXXYY syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98557 Label: Syndromic aniridia - 'Syndromic aniridia' SubClassOf 'group of disorders' + 'Syndromic aniridia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331176 Label: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency - 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia' - 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'disease' + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'disease' + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_98554 Label: Major induction processes eye anomaly - 'Major induction processes eye anomaly' SubClassOf 'group of disorders' + 'Major induction processes eye anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3230 Label: Deafness - oligodontia - 'Deafness - oligodontia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Deafness - oligodontia' SubClassOf 'malformation syndrome' - 'Deafness - oligodontia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - oligodontia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Deafness - oligodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - oligodontia' SubClassOf 'malformation syndrome' + 'Deafness - oligodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Deafness - oligodontia' SubClassOf 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onychodystrophy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Deafness - onychodystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Deafness - onychodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Deafness - onychodystrophy' SubClassOf 'malformation syndrome' + 'Deafness - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Deafness - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Deafness - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Deafness - onychodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deafness - onychodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - onychodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Deafness - onychodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_262001 Label: Partial deletion of the long arm of chromosome 1 - 'Partial deletion of the long arm of chromosome 1' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3232 Label: Deafness - ear malformation - facial palsy - 'Deafness - ear malformation - facial palsy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - ear malformation - facial palsy' SubClassOf 'malformation syndrome' + 'Deafness - ear malformation - facial palsy' SubClassOf 'malformation syndrome' + 'Deafness - ear malformation - facial palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_98553 Label: Developmental defect of the eye - 'Developmental defect of the eye' SubClassOf 'group of disorders' + 'Developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3233 Label: Cochleosaccular degeneration - cataract - 'Cochleosaccular degeneration - cataract' SubClassOf 'malformation syndrome' - 'Cochleosaccular degeneration - cataract' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cochleosaccular degeneration - cataract' SubClassOf 'part_of' some 'Syndromic cataract' + 'Cochleosaccular degeneration - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cochleosaccular degeneration - cataract' SubClassOf 'malformation syndrome' + 'Cochleosaccular degeneration - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3235 Label: Progressive deafness with stapes fixation - 'Progressive deafness with stapes fixation' SubClassOf 'malformation syndrome' - 'Progressive deafness with stapes fixation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive deafness with stapes fixation' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive deafness with stapes fixation' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Progressive deafness with stapes fixation' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Progressive deafness with stapes fixation' SubClassOf 'malformation syndrome' + 'Progressive deafness with stapes fixation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Progressive deafness with stapes fixation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive deafness with stapes fixation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3236 Label: Conductive deafness - ptosis - skeletal anomalies - 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3237 Label: Multiple synostoses syndrome - 'Multiple synostoses syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Multiple synostoses syndrome' SubClassOf 'malformation syndrome' - 'Multiple synostoses syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple synostoses syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multiple synostoses syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple synostoses syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' + 'Multiple synostoses syndrome' SubClassOf 'malformation syndrome' + 'Multiple synostoses syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple synostoses syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Multiple synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Multiple synostoses syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_302938 Label: isoprenoid synthase domain containing - 'isoprenoid synthase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'isoprenoid synthase domain containing' SubClassOf 'gene' - 'isoprenoid synthase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' - 'isoprenoid synthase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' + 'isoprenoid synthase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital muscular dystrophy without intellectual disability' + 'isoprenoid synthase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isoprenoid synthase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'isoprenoid synthase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'isoprenoid synthase domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' Class: http://www.orpha.net/ORDO/Orphanet_3238 Label: Cardiospondylocarpofacial syndrome - 'Cardiospondylocarpofacial syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cardiospondylocarpofacial syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cardiospondylocarpofacial syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cardiospondylocarpofacial syndrome' SubClassOf 'malformation syndrome' - 'Cardiospondylocarpofacial syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cardiospondylocarpofacial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiospondylocarpofacial syndrome' SubClassOf 'malformation syndrome' + 'Cardiospondylocarpofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cardiospondylocarpofacial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cardiospondylocarpofacial syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3239 Label: Deafness - vitiligo - achalasia - 'Deafness - vitiligo - achalasia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - vitiligo - achalasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - vitiligo - achalasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness - vitiligo - achalasia' SubClassOf 'malformation syndrome' - 'Deafness - vitiligo - achalasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Deafness - vitiligo - achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - vitiligo - achalasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deafness - vitiligo - achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - vitiligo - achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - vitiligo - achalasia' SubClassOf 'malformation syndrome' + 'Deafness - vitiligo - achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1962 Label: Exostoses - anetodermia - brachydactyly type E - 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'malformation syndrome' + 'Exostoses - anetodermia - brachydactyly type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_279914 Label: Intermediate uveitis - 'Intermediate uveitis' SubClassOf 'group of disorders' + 'Intermediate uveitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intermediate uveitis' SubClassOf 'group of disorders' + 'Intermediate uveitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_261572 Label: Blepharophimosis - epicanthus inversus - ptosis due to a point mutation - 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'part_of' some 'Blepharophimosis - epicanthus inversus - ptosis' - 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'etiological subtype' + 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'etiological subtype' + 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis - epicanthus inversus - ptosis' Class: http://www.orpha.net/ORDO/Orphanet_279911 Label: Primary organ-specific lymphoma - 'Primary organ-specific lymphoma' SubClassOf 'group of disorders' + 'Primary organ-specific lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95702 Label: Cytomegalic congenital adrenal hypoplasia - 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'disease' - 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' + 'Cytomegalic congenital adrenal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Cytomegalic congenital adrenal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95701 Label: Congenital adrenal hypoplasia of maternal cause - 'Congenital adrenal hypoplasia of maternal cause' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Congenital adrenal hypoplasia of maternal cause' SubClassOf 'disease' + 'Congenital adrenal hypoplasia of maternal cause' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' + 'Congenital adrenal hypoplasia of maternal cause' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279904 Label: Primary intraocular lymphoma - 'Primary intraocular lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary intraocular lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary intraocular lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary intraocular lymphoma' SubClassOf 'disease' - 'Primary intraocular lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary intraocular lymphoma' SubClassOf 'part_of' some 'Rare eye tumor' + 'Primary intraocular lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' + 'Primary intraocular lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary intraocular lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' + 'Primary intraocular lymphoma' SubClassOf 'disease' + 'Primary intraocular lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_95700 Label: Familial adrenal hypoplasia with absent pituitary luteinizing hormone - 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'disease' - 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'disease' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_1959 Label: Evans syndrome - 'Evans syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Evans syndrome' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Evans syndrome' SubClassOf 'disease' - 'Evans syndrome' SubClassOf 'part_of' some 'Autoimmune thrombocytopenia' - 'Evans syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Evans syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Evans syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Evans syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Evans syndrome' SubClassOf 'disease' + 'Evans syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune thrombocytopenia' + 'Evans syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Evans syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Evans syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_65743 Label: Autosomal dominant multiple pterygium syndrome - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'malformation syndrome' - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple pterygium syndrome' + 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple pterygium syndrome' + 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'malformation syndrome' + 'Autosomal dominant multiple pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_1957 Label: Esthesioneuroblastoma - 'Esthesioneuroblastoma' SubClassOf 'disease' - 'Esthesioneuroblastoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Esthesioneuroblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Esthesioneuroblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Esthesioneuroblastoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Esthesioneuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Esthesioneuroblastoma' SubClassOf 'disease' + 'Esthesioneuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Esthesioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Esthesioneuroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Esthesioneuroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1956 Label: Erythromelalgia - 'Erythromelalgia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Erythromelalgia' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Erythromelalgia' SubClassOf 'disease' - 'Erythromelalgia' SubClassOf 'has_prevalence' some 'Unknown' - 'Erythromelalgia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Erythromelalgia' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Erythromelalgia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Erythromelalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Erythromelalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Erythromelalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Erythromelalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Erythromelalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Erythromelalgia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Erythromelalgia' SubClassOf 'disease' + 'Erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_95707 Label: Isolated micropenis - 'Isolated micropenis' SubClassOf 'morphological anomaly' - 'Isolated micropenis' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' + 'Isolated micropenis' SubClassOf 'morphological anomaly' + 'Isolated micropenis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_95706 Label: Posterior hypospadias - 'Posterior hypospadias' SubClassOf 'morphological anomaly' - 'Posterior hypospadias' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' + 'Posterior hypospadias' SubClassOf 'morphological anomaly' + 'Posterior hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_95709 Label: Acquired premature ovarian failure - 'Acquired premature ovarian failure' SubClassOf 'group of disorders' + 'Acquired premature ovarian failure' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317857 Label: cAMP responsive element binding protein 3-like 3 - 'cAMP responsive element binding protein 3-like 3' SubClassOf 'gene' - 'cAMP responsive element binding protein 3-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'cAMP responsive element binding protein 3-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cAMP responsive element binding protein 3-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cAMP responsive element binding protein 3-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' Class: http://www.orpha.net/ORDO/Orphanet_95708 Label: Precocious puberty - 'Precocious puberty' SubClassOf 'group of disorders' + 'Precocious puberty' SubClassOf 'group of disorders' + 'Precocious puberty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1970 Label: Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'malformation syndrome' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'malformation syndrome' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_157946 Label: Huntington disease-like 3 - 'Huntington disease-like 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Huntington disease-like 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Huntington disease-like 3' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Huntington disease-like 3' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Huntington disease-like 3' SubClassOf 'disease' - 'Huntington disease-like 3' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Huntington disease-like 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Huntington disease-like 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Huntington disease-like 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Huntington disease-like 3' SubClassOf 'disease' + 'Huntington disease-like 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_1972 Label: Lethal faciocardiomelic dysplasia - 'Lethal faciocardiomelic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'malformation syndrome' - 'Lethal faciocardiomelic dysplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Lethal faciocardiomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Lethal faciocardiomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Lethal faciocardiomelic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal faciocardiomelic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1973 Label: Faciocardiorenal syndrome - 'Faciocardiorenal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Faciocardiorenal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Faciocardiorenal syndrome' SubClassOf 'malformation syndrome' - 'Faciocardiorenal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Faciocardiorenal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Faciocardiorenal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Faciocardiorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Faciocardiorenal syndrome' SubClassOf 'malformation syndrome' + 'Faciocardiorenal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Faciocardiorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Faciocardiorenal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Faciocardiorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_157941 Label: Huntington disease-like 1 - 'Huntington disease-like 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Huntington disease-like 1' SubClassOf 'disease' - 'Huntington disease-like 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Huntington disease-like 1' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' - 'Huntington disease-like 1' SubClassOf 'part_of' some 'Inherited prion disease' + 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' + 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Huntington disease-like 1' SubClassOf 'disease' + 'Huntington disease-like 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Huntington disease-like 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1974 Label: Autosomal recessive facio-digito-genital syndrome - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'malformation syndrome' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'malformation syndrome' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_95716 Label: Familial thyroid dyshormonogenesis - 'Familial thyroid dyshormonogenesis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Familial thyroid dyshormonogenesis' SubClassOf 'part_of' some 'Primary congenital hypothyroidism without thyroid developmental anomaly' - 'Familial thyroid dyshormonogenesis' SubClassOf 'disease' + 'Familial thyroid dyshormonogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial thyroid dyshormonogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial thyroid dyshormonogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial thyroid dyshormonogenesis' SubClassOf 'disease' + 'Familial thyroid dyshormonogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary congenital hypothyroidism without thyroid developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95715 Label: Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies - 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf 'disease' - 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to maternal factor' + 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to maternal factor' + 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf 'disease' + 'Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_95714 Label: Primary congenital hypothyroidism without thyroid developmental anomaly - 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'group of disorders' + 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244368 Label: zinc finger protein 592 - 'zinc finger protein 592' SubClassOf 'Disease-causing germline mutation(s) in' some 'CAMOS syndrome' - 'zinc finger protein 592' SubClassOf 'gene' + 'zinc finger protein 592' SubClassOf 'Disease-causing germline mutation(s) in' some 'CAMOS syndrome' + 'zinc finger protein 592' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.2"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 592' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95713 Label: Athyreosis - 'Athyreosis' SubClassOf 'part_of' some 'Congenital hypothyroidism due to developmental anomaly' - 'Athyreosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Athyreosis' SubClassOf 'morphological anomaly' - 'Athyreosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Athyreosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Athyreosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism due to developmental anomaly' + 'Athyreosis' SubClassOf 'morphological anomaly' + 'Athyreosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_59306 Label: McLeod neuroacanthocytosis syndrome - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'part_of' some 'Constitutional hemolytic anemia due to acanthocytosis' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'disease' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'McLeod neuroacanthocytosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' + 'McLeod neuroacanthocytosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'McLeod neuroacanthocytosis syndrome' SubClassOf 'disease' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional hemolytic anemia due to acanthocytosis' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'McLeod neuroacanthocytosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'McLeod neuroacanthocytosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_261559 Label: Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion - 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' - 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'part_of' some 'Blepharophimosis - epicanthus inversus - ptosis' - 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'etiological subtype' + 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis - epicanthus inversus - ptosis' + 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_95712 Label: Thyroid ectopia - 'Thyroid ectopia' SubClassOf 'part_of' some 'Congenital hypothyroidism due to developmental anomaly' - 'Thyroid ectopia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thyroid ectopia' SubClassOf 'morphological anomaly' - 'Thyroid ectopia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Thyroid ectopia' SubClassOf 'morphological anomaly' + 'Thyroid ectopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thyroid ectopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thyroid ectopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism due to developmental anomaly' + 'Thyroid ectopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_59305 Label: Gestational trophoblastic neoplasm - 'Gestational trophoblastic neoplasm' SubClassOf 'has_prevalence' some 'Unknown' - 'Gestational trophoblastic neoplasm' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gestational trophoblastic neoplasm' SubClassOf 'has_inheritance' some 'sporadic' - 'Gestational trophoblastic neoplasm' SubClassOf 'group of disorders' + 'Gestational trophoblastic neoplasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gestational trophoblastic neoplasm' SubClassOf 'group of disorders' + 'Gestational trophoblastic neoplasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_95711 Label: Congenital hypothyroidism due to developmental anomaly - 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'group of disorders' + 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'group of disorders' + 'Congenital hypothyroidism due to developmental anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_95710 Label: Non-acquired premature ovarian failure - 'Non-acquired premature ovarian failure' SubClassOf 'group of disorders' + 'Non-acquired premature ovarian failure' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_59303 Label: Ichthyosis - hypotrichosis - sclerosing cholangitis - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'disease' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'part_of' some 'Genetic biliary tract disease' + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'disease' + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic biliary tract disease' + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_95719 Label: Thyroid hemiagenesis - 'Thyroid hemiagenesis' SubClassOf 'part_of' some 'Congenital thyroid malformation without hypothyroidism' - 'Thyroid hemiagenesis' SubClassOf 'morphological anomaly' - 'Thyroid hemiagenesis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Thyroid hemiagenesis' SubClassOf 'part_of' some 'Congenital hypothyroidism due to developmental anomaly' + 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital thyroid malformation without hypothyroidism' + 'Thyroid hemiagenesis' SubClassOf 'morphological anomaly' + 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism due to developmental anomaly' + 'Thyroid hemiagenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_95718 Label: Congenital thyroid malformation without hypothyroidism - 'Congenital thyroid malformation without hypothyroidism' SubClassOf 'group of disorders' + 'Congenital thyroid malformation without hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244364 Label: serologically defined colon cancer antigen 8 - 'serologically defined colon cancer antigen 8' SubClassOf 'gene' - 'serologically defined colon cancer antigen 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' - 'serologically defined colon cancer antigen 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'serologically defined colon cancer antigen 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'serologically defined colon cancer antigen 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serologically defined colon cancer antigen 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'serologically defined colon cancer antigen 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95717 Label: Idiopathic congenital hypothyroidism - 'Idiopathic congenital hypothyroidism' SubClassOf 'part_of' some 'Primary congenital hypothyroidism without thyroid developmental anomaly' - 'Idiopathic congenital hypothyroidism' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic congenital hypothyroidism' SubClassOf 'disease' + 'Idiopathic congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary congenital hypothyroidism without thyroid developmental anomaly' + 'Idiopathic congenital hypothyroidism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1943 Label: Infant epilepsy with migrant focal crisis - 'Infant epilepsy with migrant focal crisis' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Infant epilepsy with migrant focal crisis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Infant epilepsy with migrant focal crisis' SubClassOf 'disease' - 'Infant epilepsy with migrant focal crisis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infant epilepsy with migrant focal crisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Infant epilepsy with migrant focal crisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infant epilepsy with migrant focal crisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Infant epilepsy with migrant focal crisis' SubClassOf 'disease' + 'Infant epilepsy with migrant focal crisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_280774 Label: Generalized essential telangiectasia - 'Generalized essential telangiectasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Generalized essential telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Generalized essential telangiectasia' SubClassOf 'part_of' some 'Skin vascular disease' - 'Generalized essential telangiectasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized essential telangiectasia' SubClassOf 'disease' + 'Generalized essential telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Generalized essential telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Generalized essential telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Generalized essential telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Generalized essential telangiectasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1941 Label: Juvenile absence epilepsy - 'Juvenile absence epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile absence epilepsy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Juvenile absence epilepsy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Juvenile absence epilepsy' SubClassOf 'disease' - 'Juvenile absence epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile absence epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Juvenile absence epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Juvenile absence epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Juvenile absence epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile absence epilepsy' SubClassOf 'disease' + 'Juvenile absence epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Juvenile absence epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1942 Label: Myoclonic-astastic epilepsy - 'Myoclonic-astastic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myoclonic-astastic epilepsy' SubClassOf 'disease' - 'Myoclonic-astastic epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Myoclonic-astastic epilepsy' SubClassOf 'has_prevalence' some 'Unknown' + 'Myoclonic-astastic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myoclonic-astastic epilepsy' SubClassOf 'disease' + 'Myoclonic-astastic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Myoclonic-astastic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1940 Label: Shoulder and thorax deformity - congenital heart disease - 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'malformation syndrome' - 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'part_of' some 'Thoracic malformation' + 'Shoulder and thorax deformity - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'malformation syndrome' + 'Shoulder and thorax deformity - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Shoulder and thorax deformity - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_280779 Label: Cutaneous collagenous vasculopathy - 'Cutaneous collagenous vasculopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cutaneous collagenous vasculopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cutaneous collagenous vasculopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cutaneous collagenous vasculopathy' SubClassOf 'disease' - 'Cutaneous collagenous vasculopathy' SubClassOf 'part_of' some 'Skin vascular disease' + 'Cutaneous collagenous vasculopathy' SubClassOf 'disease' + 'Cutaneous collagenous vasculopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Cutaneous collagenous vasculopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cutaneous collagenous vasculopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous collagenous vasculopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_330810 Label: T cell receptor beta locus - 'T cell receptor beta locus' SubClassOf 'gene' - 'T cell receptor beta locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T cell receptor beta locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T cell receptor beta locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'T cell receptor beta locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_95720 Label: Thyroid hypoplasia - 'Thyroid hypoplasia' SubClassOf 'part_of' some 'Congenital thyroid malformation without hypothyroidism' - 'Thyroid hypoplasia' SubClassOf 'part_of' some 'Congenital hypothyroidism due to developmental anomaly' - 'Thyroid hypoplasia' SubClassOf 'morphological anomaly' - 'Thyroid hypoplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital thyroid malformation without hypothyroidism' + 'Thyroid hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid hypoplasia' SubClassOf 'morphological anomaly' + 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism due to developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_67048 Label: 3-methylglutaconic aciduria type 4 - '3-methylglutaconic aciduria type 4' SubClassOf 'disease' - '3-methylglutaconic aciduria type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3-methylglutaconic aciduria type 4' SubClassOf 'has_prevalence' some 'Unknown' - '3-methylglutaconic aciduria type 4' SubClassOf 'part_of' some '3-methylglutaconic aciduria' - '3-methylglutaconic aciduria type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' + '3-methylglutaconic aciduria type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3-methylglutaconic aciduria type 4' SubClassOf 'disease' + '3-methylglutaconic aciduria type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-methylglutaconic aciduria type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_67047 Label: 3-methylglutaconic aciduria type 3 - '3-methylglutaconic aciduria type 3' SubClassOf 'disease' - '3-methylglutaconic aciduria type 3' SubClassOf 'has_prevalence' some 'Unknown' - '3-methylglutaconic aciduria type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '3-methylglutaconic aciduria type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-methylglutaconic aciduria type 3' SubClassOf 'part_of' some '3-methylglutaconic aciduria' - '3-methylglutaconic aciduria type 3' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + '3-methylglutaconic aciduria type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '3-methylglutaconic aciduria type 3' SubClassOf 'disease' + '3-methylglutaconic aciduria type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-methylglutaconic aciduria type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_67046 Label: 3-methylglutaconic aciduria type 1 - '3-methylglutaconic aciduria type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-methylglutaconic aciduria type 1' SubClassOf 'disease' - '3-methylglutaconic aciduria type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3-methylglutaconic aciduria type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3-methylglutaconic aciduria type 1' SubClassOf 'part_of' some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 1' SubClassOf 'disease' + '3-methylglutaconic aciduria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '3-methylglutaconic aciduria type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-methylglutaconic aciduria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3-methylglutaconic aciduria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363294 Label: Genetic syndromic Pierre Robin syndrome - 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244378 Label: solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 1' SubClassOf 'gene' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_67041 Label: Hyaluronidase deficiency - 'Hyaluronidase deficiency' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Hyaluronidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyaluronidase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyaluronidase deficiency' SubClassOf 'part_of' some 'Mucopolysaccharidosis' - 'Hyaluronidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyaluronidase deficiency' SubClassOf 'disease' + 'Hyaluronidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Hyaluronidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyaluronidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyaluronidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis' + 'Hyaluronidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyaluronidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_244375 Label: FAD-dependent oxidoreductase domain containing 1 - 'FAD-dependent oxidoreductase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'FAD-dependent oxidoreductase domain containing 1' SubClassOf 'gene' + 'FAD-dependent oxidoreductase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'FAD-dependent oxidoreductase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FAD-dependent oxidoreductase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1939 Label: Envenomization by Bothrops lanceolatus - 'Envenomization by Bothrops lanceolatus' SubClassOf 'disease' - 'Envenomization by Bothrops lanceolatus' SubClassOf 'part_of' some 'Rare intoxication' + 'Envenomization by Bothrops lanceolatus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Envenomization by Bothrops lanceolatus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201085 Label: paired box 4 - 'paired box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'paired box 4' SubClassOf 'gene' + 'paired box 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'paired box 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_67045 Label: X-linked intellectual disability with isolated growth hormone deficiency - 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'clinical subtype' - 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'clinical subtype' + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_244371 Label: nucleotide binding protein-like - 'nucleotide binding protein-like' SubClassOf 'gene' - 'nucleotide binding protein-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'nucleotide binding protein-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleotide binding protein-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'nucleotide binding protein-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_67044 Label: Thrombocytopenia with congenital dyserythropoietic anemia - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'disease' - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'disease' + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_65720 Label: Arthrogryposis - severe scoliosis - 'Arthrogryposis - severe scoliosis' SubClassOf 'malformation syndrome' - 'Arthrogryposis - severe scoliosis' SubClassOf 'part_of' some 'Distal arthrogryposis' + 'Arthrogryposis - severe scoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Arthrogryposis - severe scoliosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_67043 Label: Acanthamoeba keratitis - 'Acanthamoeba keratitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acanthamoeba keratitis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Acanthamoeba keratitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acanthamoeba keratitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Acanthamoeba keratitis' SubClassOf 'disease' + 'Acanthamoeba keratitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acanthamoeba keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acanthamoeba keratitis' SubClassOf 'disease' + 'Acanthamoeba keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Acanthamoeba keratitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1935 Label: Early myoclonic encephalopathy - 'Early myoclonic encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early myoclonic encephalopathy' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Early myoclonic encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Early myoclonic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early myoclonic encephalopathy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Early myoclonic encephalopathy' SubClassOf 'disease' + 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' + 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' + 'Early myoclonic encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early myoclonic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early myoclonic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Early myoclonic encephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201089 Label: epidermal growth factor - 'epidermal growth factor' SubClassOf 'gene' - 'epidermal growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' - 'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Hepatocellular carcinoma' + 'epidermal growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' + 'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Adult hepatocellular carcinoma' + 'epidermal growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'epidermal growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_67042 Label: Late-onset retinal degeneration - 'Late-onset retinal degeneration' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Late-onset retinal degeneration' SubClassOf 'disease' - 'Late-onset retinal degeneration' SubClassOf 'has_prevalence' some 'Unknown' - 'Late-onset retinal degeneration' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Late-onset retinal degeneration' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Late-onset retinal degeneration' SubClassOf 'disease' + 'Late-onset retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Late-onset retinal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Late-onset retinal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1934 Label: Early infantile epileptic encephalopathy - 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Early infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Early infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Channelopathy with epilepsy' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Early infantile epileptic encephalopathy' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Early infantile epileptic encephalopathy' SubClassOf 'clinical syndrome' + 'Early infantile epileptic encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' + 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Early infantile epileptic encephalopathy' SubClassOf 'clinical syndrome' + 'Early infantile epileptic encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Channelopathy with epilepsy' + 'Early infantile epileptic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1952 Label: Pacman dysplasia - 'Pacman dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pacman dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pacman dysplasia' SubClassOf 'malformation syndrome' - 'Pacman dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pacman dysplasia' SubClassOf 'part_of' some 'Primary osteolysis' + 'Pacman dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Pacman dysplasia' SubClassOf 'malformation syndrome' + 'Pacman dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pacman dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pacman dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Pacman dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1954 Label: Congenital lethal erythroderma - 'Congenital lethal erythroderma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital lethal erythroderma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lethal erythroderma' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Congenital lethal erythroderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital lethal erythroderma' SubClassOf 'disease' + 'Congenital lethal erythroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital lethal erythroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital lethal erythroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Congenital lethal erythroderma' SubClassOf 'disease' + 'Congenital lethal erythroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_280763 Label: Severe intellectual disability and progressive spastic paraplegia - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'disease' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'disease' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1955 Label: Spinocerebellar ataxia type 34 - 'Spinocerebellar ataxia type 34' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinocerebellar ataxia type 34' SubClassOf 'part_of' some 'Genetic erythrokeratoderma' - 'Spinocerebellar ataxia type 34' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 34' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 34' SubClassOf 'disease' - 'Spinocerebellar ataxia type 34' SubClassOf 'part_of' some 'Erythrokeratoderma' - 'Spinocerebellar ataxia type 34' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 34' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic erythrokeratoderma' + 'Spinocerebellar ataxia type 34' SubClassOf 'disease' + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 34' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma' + 'Spinocerebellar ataxia type 34' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_201091 Label: neurexin 1 - 'neurexin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' - 'neurexin 1' SubClassOf 'gene' + 'neurexin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' + 'neurexin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neurexin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_201093 Label: BRCA1 associated RING domain 1 - 'BRCA1 associated RING domain 1' SubClassOf 'gene' - 'BRCA1 associated RING domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'BRCA1 associated RING domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1 associated RING domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'BRCA1 associated RING domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1951 Label: Epilepsy telangiectasia - 'Epilepsy telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Epilepsy telangiectasia' SubClassOf 'disease' - 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Epilepsy telangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Epilepsy telangiectasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Epilepsy telangiectasia' SubClassOf 'disease' + 'Epilepsy telangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epilepsy telangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Epilepsy telangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_261584 Label: Familial adenomatous polyposis due to 5q22.2 microdeletion - 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'etiological subtype' - 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Familial adenomatous polyposis' - 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'etiological subtype' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_67036 Label: Autosomal dominant optic atrophy and cataract - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'disease' - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant optic atrophy and cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy and cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy and cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant optic atrophy and cataract' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy and cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_67038 Label: B-cell chronic lymphocytic leukemia - 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'B-cell chronic lymphocytic leukemia' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' - 'B-cell chronic lymphocytic leukemia' SubClassOf 'disease' - 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_inheritance' some 'sporadic' - 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'B-cell chronic lymphocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'B-cell chronic lymphocytic leukemia' SubClassOf 'disease' + 'B-cell chronic lymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' + 'B-cell chronic lymphocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.05"^^http://www.w3.org/2001/XMLSchema#string) + 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_67037 Label: Squamous cell carcinoma of head and neck - 'Squamous cell carcinoma of head and neck' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Squamous cell carcinoma of head and neck' SubClassOf 'disease' - 'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Squamous cell carcinoma of head and neck' SubClassOf 'part_of' some 'Rare head and neck tumor' + 'Squamous cell carcinoma of head and neck' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare head and neck tumor' + 'Squamous cell carcinoma of head and neck' SubClassOf 'disease' + 'Squamous cell carcinoma of head and neck' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "49.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Squamous cell carcinoma of head and neck' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Squamous cell carcinoma of head and neck' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_67039 Label: Segmental odontomaxillary dysplasia - 'Segmental odontomaxillary dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Segmental odontomaxillary dysplasia' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' - 'Segmental odontomaxillary dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Segmental odontomaxillary dysplasia' SubClassOf 'disease' + 'Segmental odontomaxillary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Segmental odontomaxillary dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Segmental odontomaxillary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Segmental odontomaxillary dysplasia' SubClassOf 'disease' + 'Segmental odontomaxillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_261579 Label: Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion - 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf 'part_of' some 'Blepharophimosis - epicanthus inversus - ptosis' - 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf 'etiological subtype' + 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf 'etiological subtype' + 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis - epicanthus inversus - ptosis' Class: http://www.orpha.net/ORDO/Orphanet_1949 Label: Benign familial neonatal seizures - 'Benign familial neonatal seizures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Benign familial neonatal seizures' SubClassOf 'disease' - 'Benign familial neonatal seizures' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Benign familial neonatal seizures' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Benign familial neonatal seizures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign familial neonatal seizures' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Benign familial neonatal seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Benign familial neonatal seizures' SubClassOf 'disease' + 'Benign familial neonatal seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Benign familial neonatal seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Benign familial neonatal seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign familial neonatal seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Benign familial neonatal seizures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign familial neonatal seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201095 Label: guanylate cyclase activator 1B (retina) - 'guanylate cyclase activator 1B (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'guanylate cyclase activator 1B (retina)' SubClassOf 'gene' + 'guanylate cyclase activator 1B (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'guanylate cyclase activator 1B (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanylate cyclase activator 1B (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_244385 Label: cadherin-related family member 1 - 'cadherin-related family member 1' SubClassOf 'gene' - 'cadherin-related family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'cadherin-related family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cadherin-related family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'cadherin-related family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'cadherin-related family member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cadherin-related family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_1946 Label: Amelo-cerebro-hypohidrotic syndrome - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'malformation syndrome' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'malformation syndrome' + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1945 Label: Rolandic epilepsy - 'Rolandic epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'Rolandic epilepsy' SubClassOf 'disease' - 'Rolandic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rolandic epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rolandic epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Rolandic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Rolandic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rolandic epilepsy' SubClassOf 'disease' + 'Rolandic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1948 Label: Epilepsy - microcephaly - skeletal dysplasia - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'malformation syndrome' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'malformation syndrome' + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1947 Label: Progressive epilepsy - intellectual disability, Finnish type - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'disease' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'has_prevalence' some 'Unknown' + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'disease' + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1920 Label: Toluene embryopathy - 'Toluene embryopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Toluene embryopathy' SubClassOf 'malformation syndrome' - 'Toluene embryopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Toluene embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Toluene embryopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Toluene embryopathy' SubClassOf 'has_inheritance' some 'sporadic' + 'Toluene embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Toluene embryopathy' SubClassOf 'malformation syndrome' + 'Toluene embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Toluene embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Toluene embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Toluene embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1914 Label: Embryofetopathy due to oral anticoagulant therapy - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'malformation syndrome' - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_prevalence' some 'Unknown' - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_inheritance' some 'sporadic' - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'malformation syndrome' + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_1915 Label: Fetal alcohol syndrome - 'Fetal alcohol syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal alcohol syndrome' SubClassOf 'malformation syndrome' - 'Fetal alcohol syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal alcohol syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal alcohol syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Fetal alcohol syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6800.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf 'malformation syndrome' + 'Fetal alcohol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal alcohol syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal alcohol syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "80.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal alcohol syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1912 Label: Fetal hydantoin syndrome - 'Fetal hydantoin syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal hydantoin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal hydantoin syndrome' SubClassOf 'part_of' some 'Fetal anticonvulsant syndrome' - 'Fetal hydantoin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal hydantoin syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal hydantoin syndrome' SubClassOf 'malformation syndrome' + 'Fetal hydantoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fetal anticonvulsant syndrome' + 'Fetal hydantoin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal hydantoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal hydantoin syndrome' SubClassOf 'malformation syndrome' + 'Fetal hydantoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal hydantoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1913 Label: Fetal trimethadione syndrome - 'Fetal trimethadione syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal trimethadione syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal trimethadione syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal trimethadione syndrome' SubClassOf 'part_of' some 'Fetal anticonvulsant syndrome' - 'Fetal trimethadione syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal trimethadione syndrome' SubClassOf 'malformation syndrome' + 'Fetal trimethadione syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fetal anticonvulsant syndrome' + 'Fetal trimethadione syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal trimethadione syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal trimethadione syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal trimethadione syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal trimethadione syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363279 Label: protein kinase, cGMP-dependent, type I - 'protein kinase, cGMP-dependent, type I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'protein kinase, cGMP-dependent, type I' SubClassOf 'gene' + 'protein kinase, cGMP-dependent, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial thoracic aortic aneurysm and aortic dissection' + 'protein kinase, cGMP-dependent, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase, cGMP-dependent, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1918 Label: Fetal minoxidil syndrome - 'Fetal minoxidil syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal minoxidil syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal minoxidil syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Fetal minoxidil syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal minoxidil syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal minoxidil syndrome' SubClassOf 'malformation syndrome' + 'Fetal minoxidil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal minoxidil syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal minoxidil syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Fetal minoxidil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal minoxidil syndrome' SubClassOf 'malformation syndrome' + 'Fetal minoxidil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_244310 Label: RFT1-CDG - 'RFT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'RFT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'RFT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'RFT1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'RFT1-CDG' SubClassOf 'disease' - 'RFT1-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'RFT1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'RFT1-CDG' SubClassOf 'disease' + 'RFT1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1919 Label: Phenobarbital embryopathy - 'Phenobarbital embryopathy' SubClassOf 'part_of' some 'Fetal anticonvulsant syndrome' - 'Phenobarbital embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phenobarbital embryopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Phenobarbital embryopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Phenobarbital embryopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Phenobarbital embryopathy' SubClassOf 'malformation syndrome' + 'Phenobarbital embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Phenobarbital embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phenobarbital embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fetal anticonvulsant syndrome' + 'Phenobarbital embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Phenobarbital embryopathy' SubClassOf 'malformation syndrome' + 'Phenobarbital embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_310793 Label: nicotinamide nucleotide adenylyltransferase 1 - 'nicotinamide nucleotide adenylyltransferase 1' SubClassOf 'gene' - 'nicotinamide nucleotide adenylyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'nicotinamide nucleotide adenylyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'nicotinamide nucleotide adenylyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nicotinamide nucleotide adenylyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1916 Label: Diethylstilbestrol syndrome - 'Diethylstilbestrol syndrome' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Diethylstilbestrol syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Diethylstilbestrol syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Diethylstilbestrol syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Diethylstilbestrol syndrome' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' - 'Diethylstilbestrol syndrome' SubClassOf 'disease' - 'Diethylstilbestrol syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' + 'Diethylstilbestrol syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' + 'Diethylstilbestrol syndrome' SubClassOf 'disease' + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' + 'Diethylstilbestrol syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_363276 Label: cytochrome c-1 - 'cytochrome c-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'cytochrome c-1' SubClassOf 'gene' + 'cytochrome c-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1917 Label: Fetal methylmercury syndrome - 'Fetal methylmercury syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal methylmercury syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal methylmercury syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal methylmercury syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal methylmercury syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Fetal methylmercury syndrome' SubClassOf 'malformation syndrome' + 'Fetal methylmercury syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal methylmercury syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal methylmercury syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Fetal methylmercury syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal methylmercury syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal methylmercury syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353741 Label: fibroblast growth factor 17 - 'fibroblast growth factor 17' SubClassOf 'gene' - 'fibroblast growth factor 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'fibroblast growth factor 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'fibroblast growth factor 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'fibroblast growth factor 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'fibroblast growth factor 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_353744 Label: dual specificity phosphatase 6 - 'dual specificity phosphatase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'dual specificity phosphatase 6' SubClassOf 'gene' - 'dual specificity phosphatase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'dual specificity phosphatase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'dual specificity phosphatase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dual specificity phosphatase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'dual specificity phosphatase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_293707 Label: Blepharophimosis-intellectual disability syndrome, MKB type - 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'malformation syndrome' - 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'malformation syndrome' + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_353728 Label: zinc finger, C4H2 domain containing - 'zinc finger, C4H2 domain containing' SubClassOf 'gene' - 'zinc finger, C4H2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-developmental delay-contractures syndrome' + 'zinc finger, C4H2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, C4H2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-developmental delay-contractures syndrome' + 'zinc finger, C4H2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1931 Label: Frontal encephalocele - 'Frontal encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' - 'Frontal encephalocele' SubClassOf 'clinical subtype' + 'Frontal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' + 'Frontal encephalocele' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1930 Label: Herpetic encephalitis - 'Herpetic encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Herpetic encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Herpetic encephalitis' SubClassOf 'disease' - 'Herpetic encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Herpetic encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Herpetic encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Herpetic encephalitis' SubClassOf 'part_of' some 'Infectious disease with dementia' - 'Herpetic encephalitis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Herpetic encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Herpetic encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Herpetic encephalitis' SubClassOf 'disease' + 'Herpetic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Herpetic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with dementia' + 'Herpetic encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Herpetic encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Herpetic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Herpetic encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Herpetic encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Herpetic encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_280785 Label: Bullous diffuse cutaneous mastocytosis - 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'clinical subtype' - 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'part_of' some 'Diffuse cutaneous mastocytosis' - 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bullous diffuse cutaneous mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'clinical subtype' + 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bullous diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bullous diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_1933 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'clinical subtype' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'clinical subtype' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_1923 Label: Methimazole embryofetopathy - 'Methimazole embryofetopathy' SubClassOf 'malformation syndrome' - 'Methimazole embryofetopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Methimazole embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Methimazole embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Methimazole embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Methimazole embryofetopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Methimazole embryofetopathy' SubClassOf 'malformation syndrome' + 'Methimazole embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Methimazole embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Methimazole embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Methimazole embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Methimazole embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Methimazole embryofetopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_223713 Label: Mitochondrial oxidative phosphorylation disorder - 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280794 Label: Pseudoxanthomatous diffuse cutaneous mastocytosis - 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'part_of' some 'Diffuse cutaneous mastocytosis' - 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'clinical subtype' - 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse cutaneous mastocytosis' + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf 'clinical subtype' + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1926 Label: Diabetic embryopathy - 'Diabetic embryopathy' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' - 'Diabetic embryopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Diabetic embryopathy' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Diabetic embryopathy' SubClassOf 'malformation syndrome' - 'Diabetic embryopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Diabetic embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diabetic embryopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Diabetic embryopathy' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' + 'Diabetic embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial hypertrophic cardiomyopathy' + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternal disease-related embryofetopathy' + 'Diabetic embryopathy' SubClassOf 'malformation syndrome' + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Diabetic embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diabetic embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1927 Label: Emery-Nelson syndrome - 'Emery-Nelson syndrome' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' - 'Emery-Nelson syndrome' SubClassOf 'malformation syndrome' - 'Emery-Nelson syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' + 'Emery-Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Emery-Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Emery-Nelson syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1928 Label: Congenital lobar emphysema - 'Congenital lobar emphysema' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Congenital lobar emphysema' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital lobar emphysema' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital lobar emphysema' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Congenital lobar emphysema' SubClassOf 'morphological anomaly' + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital lobar emphysema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Congenital lobar emphysema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital lobar emphysema' SubClassOf 'morphological anomaly' + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital lobar emphysema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1929 Label: Rasmussen subacute encephalitis - 'Rasmussen subacute encephalitis' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Rasmussen subacute encephalitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rasmussen subacute encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Rasmussen subacute encephalitis' SubClassOf 'disease' - 'Rasmussen subacute encephalitis' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Rasmussen subacute encephalitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Rasmussen subacute encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Rasmussen subacute encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' + 'Rasmussen subacute encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rasmussen subacute encephalitis' SubClassOf 'disease' + 'Rasmussen subacute encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_117573 Label: Syndromic anorectal malformation - 'Syndromic anorectal malformation' SubClassOf 'group of disorders' + 'Syndromic anorectal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_244322 Label: solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 - 'solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1' SubClassOf 'gene' - 'solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' + 'solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' + 'solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_353734 Label: interleukin 17 receptor D - 'interleukin 17 receptor D' SubClassOf 'gene' - 'interleukin 17 receptor D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'interleukin 17 receptor D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 17 receptor D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'interleukin 17 receptor D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1900 Label: Ehlers-Danlos syndrome, kyphoscoliotic type - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_prevalence' some 'Unknown' - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_46627 Label: Char syndrome - 'Char syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Char syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Char syndrome' SubClassOf 'malformation syndrome' - 'Char syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Char syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Char syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Char syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Char syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Char syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Char syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Char syndrome' SubClassOf 'malformation syndrome' + 'Char syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_363255 Label: SLIT-ROBO Rho GTPase activating protein 3 - 'SLIT-ROBO Rho GTPase activating protein 3' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'SLIT-ROBO Rho GTPase activating protein 3' SubClassOf 'gene' + 'SLIT-ROBO Rho GTPase activating protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SLIT-ROBO Rho GTPase activating protein 3' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'SLIT-ROBO Rho GTPase activating protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_32960 Label: TRAPS syndrome - 'TRAPS syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'TRAPS syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'TRAPS syndrome' SubClassOf 'disease' - 'TRAPS syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' - 'TRAPS syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'TRAPS syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'TRAPS syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'TRAPS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'TRAPS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'TRAPS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'TRAPS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'TRAPS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'TRAPS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'TRAPS syndrome' SubClassOf 'disease' + 'TRAPS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary periodic fever syndrome' + 'TRAPS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_369992 Label: Severe dermatitis-multiple allergies-metabolic wasting syndrome - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'part_of' some 'Rare allergic disease' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'disease' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare allergic disease' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117569 Label: Rare intestinal disease - 'Rare intestinal disease' SubClassOf 'group of disorders' + 'Rare intestinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_406382 Label: CAP-GLY domain containing linker protein 1 - 'CAP-GLY domain containing linker protein 1' SubClassOf 'gene' - 'CAP-GLY domain containing linker protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'CAP-GLY domain containing linker protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CAP-GLY domain containing linker protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'CAP-GLY domain containing linker protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_59315 Label: Rhombencephalosynapsis - 'Rhombencephalosynapsis' SubClassOf 'malformation syndrome' - 'Rhombencephalosynapsis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rhombencephalosynapsis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rhombencephalosynapsis' SubClassOf 'part_of' some 'Cerebellar malformation' - 'Rhombencephalosynapsis' SubClassOf 'has_inheritance' some 'sporadic' + 'Rhombencephalosynapsis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebellar malformation' + 'Rhombencephalosynapsis' SubClassOf 'malformation syndrome' + 'Rhombencephalosynapsis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rhombencephalosynapsis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rhombencephalosynapsis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rhombencephalosynapsis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_369999 Label: Diffuse palmoplantar keratoderma with painful fissures - 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' - 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_prevalence' some 'Unknown' - 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'disease' + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_353749 Label: sprouty homolog 4 (Drosophila) - 'sprouty homolog 4 (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Testicular non seminomatous germ cell tumor' - 'sprouty homolog 4 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'sprouty homolog 4 (Drosophila)' SubClassOf 'gene' - 'sprouty homolog 4 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'sprouty homolog 4 (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Testicular non seminomatous germ cell tumor' + 'sprouty homolog 4 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sprouty homolog 4 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'sprouty homolog 4 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'sprouty homolog 4 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_293725 Label: Blepharophimosis-intellectual disability syndrome, Verloes type - 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'malformation syndrome' + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'malformation syndrome' + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_223727 Label: Bone sarcoma - 'Bone sarcoma' SubClassOf 'group of disorders' + 'Bone sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bone sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Bone sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Bone sarcoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1911 Label: Cocaine embryofetopathy - 'Cocaine embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Cocaine embryofetopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Cocaine embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cocaine embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cocaine embryofetopathy' SubClassOf 'malformation syndrome' - 'Cocaine embryofetopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Cocaine embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Cocaine embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cocaine embryofetopathy' SubClassOf 'malformation syndrome' + 'Cocaine embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Cocaine embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cocaine embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_1910 Label: Fetal iodine syndrome - 'Fetal iodine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal iodine syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal iodine syndrome' SubClassOf 'malformation syndrome' - 'Fetal iodine syndrome' SubClassOf 'part_of' some 'Transient congenital hypothyroidism due to maternal factor' - 'Fetal iodine syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Fetal iodine syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal iodine syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Fetal iodine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal iodine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transient congenital hypothyroidism due to maternal factor' + 'Fetal iodine syndrome' SubClassOf 'malformation syndrome' + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal iodine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1906 Label: Fetal valproate syndrome - 'Fetal valproate syndrome' SubClassOf 'malformation syndrome' - 'Fetal valproate syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal valproate syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Fetal valproate syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Fetal valproate syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal valproate syndrome' SubClassOf 'part_of' some 'Fetal anticonvulsant syndrome' + 'Fetal valproate syndrome' SubClassOf 'malformation syndrome' + 'Fetal valproate syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fetal valproate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Fetal valproate syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fetal anticonvulsant syndrome' + 'Fetal valproate syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal valproate syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_1908 Label: Aminopterin/methotrexate embryofetopathy - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'malformation syndrome' - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aminopterin/methotrexate embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'malformation syndrome' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1901 Label: Ehlers-Danlos syndrome, dermatosparaxis type - 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_223735 Label: Lymphoma - 'Lymphoma' SubClassOf 'group of disorders' + 'Lymphoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1902 Label: Ehrlichiosis - 'Ehrlichiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ehrlichiosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehrlichiosis' SubClassOf 'disease' - 'Ehrlichiosis' SubClassOf 'part_of' some 'Rickettsial disease' + 'Ehrlichiosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehrlichiosis' SubClassOf 'disease' + 'Ehrlichiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ehrlichiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rickettsial disease' + 'Ehrlichiosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1909 Label: Indomethacin embryofetopathy - 'Indomethacin embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Indomethacin embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Indomethacin embryofetopathy' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Indomethacin embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Indomethacin embryofetopathy' SubClassOf 'malformation syndrome' - 'Indomethacin embryofetopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Indomethacin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Indomethacin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Indomethacin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Indomethacin embryofetopathy' SubClassOf 'malformation syndrome' + 'Indomethacin embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Indomethacin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_353751 Label: fibronectin leucine rich transmembrane protein 3 - 'fibronectin leucine rich transmembrane protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'fibronectin leucine rich transmembrane protein 3' SubClassOf 'gene' + 'fibronectin leucine rich transmembrane protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11"^^http://www.w3.org/2001/XMLSchema#string + 'fibronectin leucine rich transmembrane protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'fibronectin leucine rich transmembrane protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363263 Label: neurotrophic tyrosine kinase, receptor, type 2 - 'neurotrophic tyrosine kinase, receptor, type 2' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'neurotrophic tyrosine kinase, receptor, type 2' SubClassOf 'gene' + 'neurotrophic tyrosine kinase, receptor, type 2' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'neurotrophic tyrosine kinase, receptor, type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'neurotrophic tyrosine kinase, receptor, type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_64280 Label: Childhood absence epilepsy - 'Childhood absence epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Childhood absence epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Childhood absence epilepsy' SubClassOf 'disease' + 'Childhood absence epilepsy' SubClassOf 'disease' + 'Childhood absence epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_238557 Label: Chuvash erythrocytosis - 'Chuvash erythrocytosis' SubClassOf 'disease' - 'Chuvash erythrocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chuvash erythrocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Chuvash erythrocytosis' SubClassOf 'part_of' some 'Congenital secondary polycythemia' - 'Chuvash erythrocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Chuvash erythrocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital secondary polycythemia' + 'Chuvash erythrocytosis' SubClassOf 'disease' + 'Chuvash erythrocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chuvash erythrocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chuvash erythrocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_328676 Label: leucine-rich repeats and immunoglobulin-like domains 2 - 'leucine-rich repeats and immunoglobulin-like domains 2' SubClassOf 'gene' - 'leucine-rich repeats and immunoglobulin-like domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' + 'leucine-rich repeats and immunoglobulin-like domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'leucine-rich repeats and immunoglobulin-like domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich repeats and immunoglobulin-like domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' Class: http://www.orpha.net/ORDO/Orphanet_390869 Label: catenin (cadherin-associated protein), alpha 3 - 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'gene' - 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21"^^http://www.w3.org/2001/XMLSchema#string + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_139455 Label: Autosomal recessive bestrophinopathy - 'Autosomal recessive bestrophinopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Autosomal recessive bestrophinopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive bestrophinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive bestrophinopathy' SubClassOf 'disease' + 'Autosomal recessive bestrophinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive bestrophinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Autosomal recessive bestrophinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive bestrophinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive bestrophinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79665 Label: Gardner syndrome - 'Gardner syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Gardner syndrome' SubClassOf 'part_of' some 'Palpebral sebaceous gland tumor' - 'Gardner syndrome' SubClassOf 'clinical subtype' - 'Gardner syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Gardner syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Gardner syndrome' SubClassOf 'part_of' some 'Familial adenomatous polyposis' - 'Gardner syndrome' SubClassOf 'part_of' some 'Disease with potential neoplastic degeneration associated with ocular features' - 'Gardner syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Gardner syndrome' SubClassOf 'clinical subtype' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial adenomatous polyposis' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral sebaceous gland tumor' + 'Gardner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease with potential neoplastic degeneration associated with ocular features' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_120107 Label: translocase of inner mitochondrial membrane 8 homolog A (yeast) - 'translocase of inner mitochondrial membrane 8 homolog A (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mohr-Tranebjaerg syndrome' - 'translocase of inner mitochondrial membrane 8 homolog A (yeast)' SubClassOf 'gene' + 'translocase of inner mitochondrial membrane 8 homolog A (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22"^^http://www.w3.org/2001/XMLSchema#string + 'translocase of inner mitochondrial membrane 8 homolog A (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mohr-Tranebjaerg syndrome' + 'translocase of inner mitochondrial membrane 8 homolog A (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79669 Label: Autoimmune bullous skin disease - 'Autoimmune bullous skin disease' SubClassOf 'group of disorders' + 'Autoimmune bullous skin disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_403061 Label: epithelial membrane protein 2 - 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' - 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' - 'epithelial membrane protein 2' SubClassOf 'gene' - 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' - 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'epithelial membrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' + 'epithelial membrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' + 'epithelial membrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' Class: http://www.orpha.net/ORDO/Orphanet_168448 Label: Spondyloepimetaphyseal dysplasia, Bieganski type - 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120112 Label: TIMP metallopeptidase inhibitor 3 - 'TIMP metallopeptidase inhibitor 3' SubClassOf 'gene' - 'TIMP metallopeptidase inhibitor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sorsby's fundus dystrophy' + 'TIMP metallopeptidase inhibitor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'TIMP metallopeptidase inhibitor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sorsby's fundus dystrophy' + 'TIMP metallopeptidase inhibitor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_48818 Label: Aceruloplasminemia - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'Aceruloplasminemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Aceruloplasminemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Aceruloplasminemia' SubClassOf 'disease' - 'Aceruloplasminemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Aceruloplasminemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aceruloplasminemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Aceruloplasminemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Aceruloplasminemia' SubClassOf 'disease' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Aceruloplasminemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_404138 Label: guanylate cyclase 1, soluble, alpha 3 - 'guanylate cyclase 1, soluble, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease with early-onset achalasia' - 'guanylate cyclase 1, soluble, alpha 3' SubClassOf 'gene' + 'guanylate cyclase 1, soluble, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.3-q33"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase 1, soluble, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanylate cyclase 1, soluble, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Moyamoya disease with early-onset achalasia' Class: http://www.orpha.net/ORDO/Orphanet_166305 Label: Benign infantile seizures associated to mild gastroenteritis - 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'disease' + 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'disease' + 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_31837 Label: Pulmonary venoocclusive disease - 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary venoocclusive disease' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Pulmonary venoocclusive disease' SubClassOf 'part_of' some 'Pulmonary arterial hypertension' - 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pulmonary venoocclusive disease' SubClassOf 'disease' + 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary venoocclusive disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary arterial hypertension' + 'Pulmonary venoocclusive disease' SubClassOf 'disease' + 'Pulmonary venoocclusive disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_168443 Label: Spondyloepimetaphyseal dysplasia - hypotrichosis - 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_139450 Label: Microtia - eye coloboma - imperforation of the nasolacrimal duct - 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'malformation syndrome' + 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'malformation syndrome' + 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_166302 Label: Benign partial epilepsy with secondarily generalized seizures in infancy - 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'disease' - 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'part_of' some 'Benign non-familial infantile seizures' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign non-familial infantile seizures' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404135 Label: protein kinase, cAMP-dependent, catalytic, alpha - 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' - 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf 'gene' + 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' + 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166308 Label: Benign infantile focal epilepsy with midline spikes and wave during sleep - 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'disease' + 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign partial infantile seizures' + 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139466 Label: SERKAL syndrome - 'SERKAL syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SERKAL syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SERKAL syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'SERKAL syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - 'SERKAL syndrome' SubClassOf 'malformation syndrome' + 'SERKAL syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'SERKAL syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SERKAL syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SERKAL syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SERKAL syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'SERKAL syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_328666 Label: glucosidase, beta (bile acid) 2 - 'glucosidase, beta (bile acid) 2' SubClassOf 'gene' - 'glucosidase, beta (bile acid) 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 46' - 'glucosidase, beta (bile acid) 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia with late-onset spasticity' + 'glucosidase, beta (bile acid) 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive cerebellar ataxia with late-onset spasticity' + 'glucosidase, beta (bile acid) 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glucosidase, beta (bile acid) 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucosidase, beta (bile acid) 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive spastic paraplegia type 46' Class: http://www.orpha.net/ORDO/Orphanet_79651 Label: Mild hyperphenylalaninemia - 'Mild hyperphenylalaninemia' SubClassOf 'part_of' some 'Phenylketonuria' - 'Mild hyperphenylalaninemia' SubClassOf 'clinical subtype' - 'Mild hyperphenylalaninemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Mild hyperphenylalaninemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mild hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mild hyperphenylalaninemia' SubClassOf 'clinical subtype' + 'Mild hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mild hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mild hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phenylketonuria' + 'Mild hyperphenylalaninemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_238569 Label: Autosomal recessive early-onset inflammatory bowel disease - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'disease' - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'disease' + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_120101 Label: thyroid hormone receptor, beta - 'thyroid hormone receptor, beta' SubClassOf 'gene' - 'thyroid hormone receptor, beta' SubClassOf 'Role in the phenotype of' some 'Peripheral resistance to thyroid hormones' - 'thyroid hormone receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized resistance to thyroid hormone' - 'thyroid hormone receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Selective pituitary resistance to thyroid hormone' + 'thyroid hormone receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid hormone receptor, beta' SubClassOf 'Role in the phenotype of' some 'Peripheral resistance to thyroid hormones' + 'thyroid hormone receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'thyroid hormone receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized resistance to thyroid hormone' + 'thyroid hormone receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Selective pituitary resistance to thyroid hormone' Class: http://www.orpha.net/ORDO/Orphanet_262092 Label: Partial deletion of the long arm of chromosome 11 - 'Partial deletion of the long arm of chromosome 11' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31826 Label: Ethylene glycol poisoning - 'Ethylene glycol poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Ethylene glycol poisoning' SubClassOf 'disease' - 'Ethylene glycol poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Ethylene glycol poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Ethylene glycol poisoning' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ethylene glycol poisoning' SubClassOf 'disease' + 'Ethylene glycol poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Ethylene glycol poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ethylene glycol poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_31825 Label: Methanol poisoning - 'Methanol poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Methanol poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Methanol poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Methanol poisoning' SubClassOf 'disease' - 'Methanol poisoning' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Methanol poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methanol poisoning' SubClassOf 'disease' + 'Methanol poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Methanol poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_168454 Label: Spondyloepimetaphyseal dysplasia, Genevi�ve type - 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Genevi�ve type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_31828 Label: Digitalis poisoning - 'Digitalis poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' - 'Digitalis poisoning' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Digitalis poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Digitalis poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Digitalis poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Digitalis poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Digitalis poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Digitalis poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + 'Digitalis poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168451 Label: Spondyloepimetaphyseal dysplasia - abnormal dentition - 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_31827 Label: Paraquat poisoning - 'Paraquat poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Paraquat poisoning' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paraquat poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Paraquat poisoning' SubClassOf 'disease' - 'Paraquat poisoning' SubClassOf 'part_of' some 'Rare intoxication' + 'Paraquat poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Paraquat poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paraquat poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Paraquat poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_166311 Label: Benign partial infantile seizures - 'Benign partial infantile seizures' SubClassOf 'group of disorders' + 'Benign partial infantile seizures' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371200 Label: Congenital disorder of glycosylation with skin involvement - 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_31824 Label: Colchicine poisoning - 'Colchicine poisoning' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Colchicine poisoning' SubClassOf 'has_inheritance' some 'sporadic' - 'Colchicine poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Colchicine poisoning' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Colchicine poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' + 'Colchicine poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Colchicine poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Colchicine poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Colchicine poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + 'Colchicine poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_404144 Label: carbonic anhydrase VA, mitochondrial - 'carbonic anhydrase VA, mitochondrial' SubClassOf 'gene' - 'carbonic anhydrase VA, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' + 'carbonic anhydrase VA, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbonic anhydrase VA, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' + 'carbonic anhydrase VA, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_328699 Label: solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'gene' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171442 Label: Adult-onset nemaline myopathy - 'Adult-onset nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Adult-onset nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of nebulin' - 'Adult-onset nemaline myopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult-onset nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adult-onset nemaline myopathy' SubClassOf 'clinical subtype' - 'Adult-onset nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' + 'Adult-onset nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of nebulin' + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Adult-onset nemaline myopathy' SubClassOf 'clinical subtype' + 'Adult-onset nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_238578 Label: Familial clubfoot due to 17q23.1q23.2 microduplication - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'etiological subtype' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'part_of' some 'Familial clubfoot with or without associated lower limb anomalies' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'etiological subtype' + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial clubfoot with or without associated lower limb anomalies' + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_371207 Label: Congenital disorder of glycosylation with nephropathy as a major feature - 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139474 Label: 17q11.2 microduplication syndrome - '17q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' - '17q11.2 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '17q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '17q11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '17q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - '17q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + '17q11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '17q11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '17q11.2 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_404154 Label: karyopherin alpha 7 (importin alpha 8) - 'karyopherin alpha 7 (importin alpha 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' - 'karyopherin alpha 7 (importin alpha 8)' SubClassOf 'gene' + 'karyopherin alpha 7 (importin alpha 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' + 'karyopherin alpha 7 (importin alpha 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'karyopherin alpha 7 (importin alpha 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_65798 Label: Goodman syndrome - 'Goodman syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Goodman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Goodman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Goodman syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Goodman syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Goodman syndrome' SubClassOf 'malformation syndrome' - 'Goodman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Goodman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Goodman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Goodman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Goodman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Goodman syndrome' SubClassOf 'malformation syndrome' + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79643 Label: Autosomal recessive hyperinsulinism due to SUR1 deficiency - 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' - 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'part_of' some 'Diazoxide-resistant diffuse hyperinsulinism' + 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'disease' + 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-resistant diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_79644 Label: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'part_of' some 'Diazoxide-resistant diffuse hyperinsulinism' - 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' - 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' + 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-resistant diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_139471 Label: Microphthalmia with brain and digit anomalies - 'Microphthalmia with brain and digit anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia with brain and digit anomalies' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia with brain and digit anomalies' SubClassOf 'malformation syndrome' - 'Microphthalmia with brain and digit anomalies' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Microphthalmia with brain and digit anomalies' SubClassOf 'malformation syndrome' + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia with brain and digit anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_371212 Label: Congenital disorder of glycosylation with deafness as a major feature - 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_328691 Label: aldehyde dehydrogenase 1 family, member A3 - 'aldehyde dehydrogenase 1 family, member A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'aldehyde dehydrogenase 1 family, member A3' SubClassOf 'gene' + 'aldehyde dehydrogenase 1 family, member A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 1 family, member A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'aldehyde dehydrogenase 1 family, member A3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_330881 Label: T cell receptor alpha locus - 'T cell receptor alpha locus' SubClassOf 'gene' - 'T cell receptor alpha locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T cell receptor alpha locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T cell receptor alpha locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'T cell receptor alpha locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171439 Label: Childhood-onset nemaline myopathy - 'Childhood-onset nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin' - 'Childhood-onset nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of nebulin' - 'Childhood-onset nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' - 'Childhood-onset nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Childhood-onset nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Childhood-onset nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Childhood-onset nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood-onset nemaline myopathy' SubClassOf 'clinical subtype' + 'Childhood-onset nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Childhood-onset nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of nebulin' + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of tropomyosin' + 'Childhood-onset nemaline myopathy' SubClassOf 'clinical subtype' + 'Childhood-onset nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171433 Label: Intermediate nemaline myopathy - 'Intermediate nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of nebulin' - 'Intermediate nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Intermediate nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intermediate nemaline myopathy' SubClassOf 'clinical subtype' - 'Intermediate nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intermediate nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intermediate nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin' - 'Intermediate nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Intermediate nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' + 'Intermediate nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermediate nemaline myopathy' SubClassOf 'clinical subtype' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of tropomyosin' + 'Intermediate nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of nebulin' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Intermediate nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Intermediate nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intermediate nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_171436 Label: Typical nemaline myopathy - 'Typical nemaline myopathy' SubClassOf 'clinical subtype' - 'Typical nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Typical nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of nebulin' - 'Typical nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' - 'Typical nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Typical nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Typical nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Typical nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin' - 'Typical nemaline myopathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Typical nemaline myopathy' SubClassOf 'clinical subtype' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Typical nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Typical nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of nebulin' + 'Typical nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Typical nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Typical nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of tropomyosin' Class: http://www.orpha.net/ORDO/Orphanet_238583 Label: Hyperphenylalaninemia - 'Hyperphenylalaninemia' SubClassOf 'disease' - 'Hyperphenylalaninemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperphenylalaninemia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hyperphenylalaninemia' SubClassOf 'part_of' some 'Disorder of pterin metabolism' - 'Hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pterin metabolism' + 'Hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hyperphenylalaninemia' SubClassOf 'disease' + 'Hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperphenylalaninemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperphenylalaninemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Hyperphenylalaninemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_371219 Label: intraflagellar transport 172 - 'intraflagellar transport 172' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saldino-Mainzer syndrome' - 'intraflagellar transport 172' SubClassOf 'gene' - 'intraflagellar transport 172' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 172' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 172' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saldino-Mainzer syndrome' + 'intraflagellar transport 172' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string + 'intraflagellar transport 172' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171430 Label: Severe congenital nemaline myopathy - 'Severe congenital nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe congenital nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of nebulin' - 'Severe congenital nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Severe congenital nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' - 'Severe congenital nemaline myopathy' SubClassOf 'clinical subtype' - 'Severe congenital nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe congenital nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Severe congenital nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe congenital nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe congenital nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe congenital nemaline myopathy' SubClassOf 'clinical subtype' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of nebulin' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Severe congenital nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139485 Label: Autosomal recessive ataxia due to ubiquinone deficiency - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'disease' - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'disease' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_121299 Label: EGF containing fibulin-like extracellular matrix protein 2 - 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf 'gene' - 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 1' - 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' + 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 1' + 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' + 'EGF containing fibulin-like extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_157997 Label: Benign cephalic histiocytosis - 'Benign cephalic histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Benign cephalic histiocytosis' SubClassOf 'disease' - 'Benign cephalic histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Benign cephalic histiocytosis' SubClassOf 'disease' + 'Benign cephalic histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Benign cephalic histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_139480 Label: Autosomal recessive spastic paraplegia type 39 - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 39' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_404167 Label: DDB1 and CUL4 associated factor 8 - 'DDB1 and CUL4 associated factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' - 'DDB1 and CUL4 associated factor 8' SubClassOf 'gene' + 'DDB1 and CUL4 associated factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' + 'DDB1 and CUL4 associated factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DDB1 and CUL4 associated factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_157991 Label: Generalized eruptive histiocytosis - 'Generalized eruptive histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Generalized eruptive histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Generalized eruptive histiocytosis' SubClassOf 'disease' + 'Generalized eruptive histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Generalized eruptive histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Generalized eruptive histiocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_330897 Label: T cell receptor delta locus - 'T cell receptor delta locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'T cell receptor delta locus' SubClassOf 'gene' + 'T cell receptor delta locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'T cell receptor delta locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'T cell receptor delta locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121292 Label: EGF containing fibulin-like extracellular matrix protein 1 - 'EGF containing fibulin-like extracellular matrix protein 1' SubClassOf 'gene' - 'EGF containing fibulin-like extracellular matrix protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial drusen' + 'EGF containing fibulin-like extracellular matrix protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16"^^http://www.w3.org/2001/XMLSchema#string + 'EGF containing fibulin-like extracellular matrix protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EGF containing fibulin-like extracellular matrix protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial drusen' Class: http://www.orpha.net/ORDO/Orphanet_244283 Label: Biliary atresia with splenic malformation syndrome - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'malformation syndrome' - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Biliary atresia with splenic malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' + 'Biliary atresia with splenic malformation syndrome' SubClassOf 'malformation syndrome' + 'Biliary atresia with splenic malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Biliary atresia with splenic malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_863 Label: Trichinellosis - 'Trichinellosis' SubClassOf 'disease' - 'Trichinellosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Trichinellosis' SubClassOf 'part_of' some 'Parasitic myositis' - 'Trichinellosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Trichinellosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Trichinellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Trichinellosis' SubClassOf 'disease' + 'Trichinellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Parasitic myositis' + 'Trichinellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Trichinellosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Trichinellosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trichinellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_864 Label: Trichofolliculoma - 'Trichofolliculoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Trichofolliculoma' SubClassOf 'disease' - 'Trichofolliculoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Trichofolliculoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Trichofolliculoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Trichofolliculoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Trichofolliculoma' SubClassOf 'disease' + 'Trichofolliculoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Trichofolliculoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_860 Label: Congenitally uncorrected transposition of the great arteries - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Transposition of the great arteries' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'morphological anomaly' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenitally uncorrected transposition of the great arteries' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'morphological anomaly' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_861 Label: Treacher-Collins syndrome - 'Treacher-Collins syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Malposition of external canthus' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Treacher-Collins syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Treacher-Collins syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Treacher-Collins syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with branchial archs anomalies' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Mandibulofacial dysostosis' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Treacher-Collins syndrome' SubClassOf 'malformation syndrome' - 'Treacher-Collins syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Treacher-Collins syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Treacher-Collins syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malposition of external canthus' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibulofacial dysostosis' + 'Treacher-Collins syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Treacher-Collins syndrome' SubClassOf 'malformation syndrome' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with branchial archs anomalies' + 'Treacher-Collins syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_238593 Label: Sclerosing mesenteritis - 'Sclerosing mesenteritis' SubClassOf 'has_prevalence' some 'Unknown' - 'Sclerosing mesenteritis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sclerosing mesenteritis' SubClassOf 'has_inheritance' some 'sporadic' - 'Sclerosing mesenteritis' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Sclerosing mesenteritis' SubClassOf 'disease' + 'Sclerosing mesenteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sclerosing mesenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Sclerosing mesenteritis' SubClassOf 'disease' + 'Sclerosing mesenteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_279943 Label: Hereditary neutrophilia - 'Hereditary neutrophilia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary neutrophilia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary neutrophilia' SubClassOf 'part_of' some 'Rare immune disease' - 'Hereditary neutrophilia' SubClassOf 'disease' - 'Hereditary neutrophilia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary neutrophilia' SubClassOf 'part_of' some 'Rare genetic immune disease' + 'Hereditary neutrophilia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary neutrophilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic immune disease' + 'Hereditary neutrophilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' + 'Hereditary neutrophilia' SubClassOf 'disease' + 'Hereditary neutrophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary neutrophilia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_121282 Label: EDAR-associated death domain - 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' - 'EDAR-associated death domain' SubClassOf 'gene' - 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' - 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' + 'EDAR-associated death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EDAR-associated death domain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.3"^^http://www.w3.org/2001/XMLSchema#string + 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' + 'EDAR-associated death domain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' Class: http://www.orpha.net/ORDO/Orphanet_168486 Label: Congenital neuronal ceroid lipofuscinosis - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_857 Label: Townes-Brocks syndrome - 'Townes-Brocks syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Townes-Brocks syndrome' SubClassOf 'malformation syndrome' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Otomandibular dysplasia associated with monogenic syndromes' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Townes-Brocks syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Townes-Brocks syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Townes-Brocks syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Townes-Brocks syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Townes-Brocks syndrome' SubClassOf 'malformation syndrome' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Townes-Brocks syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otomandibular dysplasia associated with monogenic syndromes' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Townes-Brocks syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_279947 Label: Postorgasmic illness syndrome - 'Postorgasmic illness syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Postorgasmic illness syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' - 'Postorgasmic illness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Postorgasmic illness syndrome' SubClassOf 'clinical syndrome' + 'Postorgasmic illness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Postorgasmic illness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Postorgasmic illness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Postorgasmic illness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Postorgasmic illness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Postorgasmic illness syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_859 Label: Transcobalamin deficiency - 'Transcobalamin deficiency' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Transcobalamin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Transcobalamin deficiency' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Transcobalamin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Transcobalamin deficiency' SubClassOf 'disease' - 'Transcobalamin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Transcobalamin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Transcobalamin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Transcobalamin deficiency' SubClassOf 'disease' + 'Transcobalamin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transcobalamin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_858 Label: Congenital toxoplasmosis - 'Congenital toxoplasmosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital toxoplasmosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Congenital toxoplasmosis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital toxoplasmosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital toxoplasmosis' SubClassOf 'part_of' some 'Infectious embryofetopathy' - 'Congenital toxoplasmosis' SubClassOf 'disease' + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious embryofetopathy' + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Congenital toxoplasmosis' SubClassOf 'disease' + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "55.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "130.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital toxoplasmosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "113.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_371235 Label: Congenital disorder of glycosylation with developmental anomaly - 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139491 Label: Hemochromatosis type 4 - 'Hemochromatosis type 4' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hemochromatosis type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemochromatosis type 4' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' - 'Hemochromatosis type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemochromatosis type 4' SubClassOf 'disease' + 'Hemochromatosis type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemochromatosis type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemochromatosis type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hemochromatosis type 4' SubClassOf 'disease' + 'Hemochromatosis type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_120152 Label: tumor necrosis factor receptor superfamily, member 10b - 'tumor necrosis factor receptor superfamily, member 10b' SubClassOf 'gene' - 'tumor necrosis factor receptor superfamily, member 10b' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'tumor necrosis factor receptor superfamily, member 10b' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22-p21"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 10b' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'tumor necrosis factor receptor superfamily, member 10b' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121284 Label: endothelin 3 - 'endothelin 3' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'endothelin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' - 'endothelin 3' SubClassOf 'gene' - 'endothelin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' + 'endothelin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'endothelin 3' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'endothelin 3' SubClassOf 'Candidate gene tested in' some 'Ondine syndrome' + 'endothelin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121287 Label: endothelin receptor type B - 'endothelin receptor type B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' - 'endothelin receptor type B' SubClassOf 'gene' - 'endothelin receptor type B' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'endothelin receptor type B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q22"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin receptor type B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg-Shah syndrome' + 'endothelin receptor type B' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'endothelin receptor type B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_157987 Label: Non-Langerhans cell histiocytosis - 'Non-Langerhans cell histiocytosis' SubClassOf 'group of disorders' + 'Non-Langerhans cell histiocytosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_876 Label: Yolk sac tumor - 'Yolk sac tumor' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Yolk sac tumor' SubClassOf 'disease' + 'Yolk sac tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Yolk sac tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_877 Label: Endocrine tumor - 'Endocrine tumor' SubClassOf 'group of disorders' + 'Endocrine tumor' SubClassOf 'group of disorders' + 'Endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Endocrine tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.53"^^http://www.w3.org/2001/XMLSchema#string) + 'Endocrine tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_874 Label: Adult heart tumor - 'Adult heart tumor' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Adult heart tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult heart tumor' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult heart tumor' SubClassOf 'disease' - 'Adult heart tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Adult heart tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "140.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult heart tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult heart tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Adult heart tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult heart tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_875 Label: Heart tumor of the child - 'Heart tumor of the child' SubClassOf 'has_prevalence' some 'Unknown' - 'Heart tumor of the child' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Heart tumor of the child' SubClassOf 'disease' - 'Heart tumor of the child' SubClassOf 'has_inheritance' some 'sporadic' - 'Heart tumor of the child' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Heart tumor of the child' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Heart tumor of the child' SubClassOf 'disease' + 'Heart tumor of the child' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Heart tumor of the child' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_244279 Label: dimethylglycine dehydrogenase - 'dimethylglycine dehydrogenase' SubClassOf 'gene' - 'dimethylglycine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dimethylglycine dehydrogenase deficiency' + 'dimethylglycine dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dimethylglycine dehydrogenase deficiency' + 'dimethylglycine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'dimethylglycine dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_873 Label: Desmoid tumor - 'Desmoid tumor' SubClassOf 'disease' - 'Desmoid tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Desmoid tumor' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Desmoid tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Desmoid tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Desmoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Desmoid tumor' SubClassOf 'disease' + 'Desmoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Desmoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Desmoid tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Desmoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Desmoid tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Desmoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_870 Label: Down syndrome - 'Down syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Down syndrome' SubClassOf 'malformation syndrome' - 'Down syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Down syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Down syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Down syndrome' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'Down syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Down syndrome' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Down syndrome' SubClassOf 'part_of' some 'Malposition of external canthus' - 'Down syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Down syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Down syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Down syndrome' SubClassOf 'part_of' some 'Secondary ectropion' - 'Down syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Down syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Down syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Down syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_871 Label: Familial progressive cardiac conduction defect - 'Familial progressive cardiac conduction defect' SubClassOf 'disease' - 'Familial progressive cardiac conduction defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial progressive cardiac conduction defect' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Familial progressive cardiac conduction defect' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial progressive cardiac conduction defect' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial progressive cardiac conduction defect' SubClassOf 'disease' + 'Familial progressive cardiac conduction defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Familial progressive cardiac conduction defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial progressive cardiac conduction defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_869 Label: Triple A syndrome - 'Triple A syndrome' SubClassOf 'part_of' some 'Congenital alacrima' - 'Triple A syndrome' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' - 'Triple A syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Triple A syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Triple A syndrome' SubClassOf 'disease' - 'Triple A syndrome' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Triple A syndrome' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' - 'Triple A syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Triple A syndrome' SubClassOf 'part_of' some 'Syndromic esophageal malformation' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'Triple A syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Triple A syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Triple A syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Triple A syndrome' SubClassOf 'disease' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with peripheral neuropathy' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital alacrima' Class: http://www.orpha.net/ORDO/Orphanet_121273 Label: ectodysplasin A receptor - 'ectodysplasin A receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' - 'ectodysplasin A receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' - 'ectodysplasin A receptor' SubClassOf 'gene' + 'ectodysplasin A receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hypohidrotic ectodermal dysplasia' + 'ectodysplasin A receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' + 'ectodysplasin A receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string + 'ectodysplasin A receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_868 Label: Triose phosphate-isomerase deficiency - 'Triose phosphate-isomerase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Triose phosphate-isomerase deficiency' SubClassOf 'part_of' some 'Disorder of glycolysis' - 'Triose phosphate-isomerase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Triose phosphate-isomerase deficiency' SubClassOf 'disease' - 'Triose phosphate-isomerase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Triose phosphate-isomerase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Triose phosphate-isomerase deficiency' SubClassOf 'part_of' some 'Energy metabolism disorder with epilepsy' - 'Triose phosphate-isomerase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycolysis' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Energy metabolism disorder with epilepsy' + 'Triose phosphate-isomerase deficiency' SubClassOf 'disease' + 'Triose phosphate-isomerase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Triose phosphate-isomerase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Triose phosphate-isomerase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120140 Label: transmembrane protein 67 - 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Boichis syndrome' - 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' - 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'transmembrane protein 67' SubClassOf 'gene' + 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'transmembrane protein 67' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 67' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Boichis syndrome' + 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'transmembrane protein 67' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' Class: http://www.orpha.net/ORDO/Orphanet_867 Label: Familial multiple trichoepithelioma - 'Familial multiple trichoepithelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial multiple trichoepithelioma' SubClassOf 'clinical subtype' - 'Familial multiple trichoepithelioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial multiple trichoepithelioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial multiple trichoepithelioma' SubClassOf 'part_of' some 'Brooke-Spiegler syndrome' + 'Familial multiple trichoepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial multiple trichoepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial multiple trichoepithelioma' SubClassOf 'clinical subtype' + 'Familial multiple trichoepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brooke-Spiegler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168491 Label: Late infantile neuronal ceroid lipofuscinosis - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.78"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_120145 Label: transmembrane inner ear - 'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'transmembrane inner ear' SubClassOf 'gene' + 'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'transmembrane inner ear' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane inner ear' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_157973 Label: Congenital muscular dystrophy due to LMNA mutation - 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'disease' - 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'disease' + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_120148 Label: transmembrane protease, serine 3 - 'transmembrane protease, serine 3' SubClassOf 'gene' - 'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'transmembrane protease, serine 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'transmembrane protease, serine 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_65753 Label: Charcot-Marie-Tooth disease type 1 - 'Charcot-Marie-Tooth disease type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Charcot-Marie-Tooth disease type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Charcot-Marie-Tooth disease type 1' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Charcot-Marie-Tooth disease type 1' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Charcot-Marie-Tooth disease type 1' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Charcot-Marie-Tooth disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_57145 Label: SUNCT syndrome - 'SUNCT syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'SUNCT syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'SUNCT syndrome' SubClassOf 'part_of' some 'Rare headache' - 'SUNCT syndrome' SubClassOf 'disease' + 'SUNCT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'SUNCT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'SUNCT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'SUNCT syndrome' SubClassOf 'disease' + 'SUNCT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_881 Label: Turner syndrome - 'Turner syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Turner syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Turner syndrome' SubClassOf 'malformation syndrome' - 'Turner syndrome' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - 'Turner syndrome' SubClassOf 'part_of' some 'X chromosome number anomaly with female phenotype' - 'Turner syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Turner syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Turner syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Turner syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Turner syndrome' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Turner syndrome' SubClassOf 'part_of' some 'Rare endocrine growth disease' - 'Turner syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Turner syndrome' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - 'Turner syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Turner syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410026) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + 'Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare endocrine growth disease' + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Turner syndrome' SubClassOf 'malformation syndrome' + 'Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X chromosome number anomaly with female phenotype' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "70.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_882 Label: Tyrosinemia type 1 - 'Tyrosinemia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tyrosinemia type 1' SubClassOf 'disease' - 'Tyrosinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tyrosinemia type 1' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Tyrosinemia type 1' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Tyrosinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Tyrosinemia type 1' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Tyrosinemia type 1' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Tyrosinemia type 1' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Tyrosinemia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tyrosinemia type 1' SubClassOf 'disease' + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "54.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_883 Label: Teratoma - 'Teratoma' SubClassOf 'disease' - 'Teratoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Teratoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_57146 Label: Rare hepatic disease - 'Rare hepatic disease' SubClassOf 'group of disorders' + 'Rare hepatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_884 Label: Tetrasomy 12p - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Chromosomal disease with overgrowth' - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Tetrasomy 12p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Tetrasomy 12p' SubClassOf 'has_prevalence' some 'Unknown' - 'Tetrasomy 12p' SubClassOf 'has_inheritance' some 'sporadic' - 'Tetrasomy 12p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' - 'Tetrasomy 12p' SubClassOf 'malformation syndrome' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Tetrasomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Tetrasomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetrasomy 12p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tetrasomy 12p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal disease with overgrowth' + 'Tetrasomy 12p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tetrasomy 12p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_279919 Label: Infectious posterior uveitis - 'Infectious posterior uveitis' SubClassOf 'group of disorders' + 'Infectious posterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_321589 Label: tectonin beta-propeller repeat containing 2 - 'tectonin beta-propeller repeat containing 2' SubClassOf 'gene' - 'tectonin beta-propeller repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 49' + 'tectonin beta-propeller repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tectonin beta-propeller repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 49' + 'tectonin beta-propeller repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_886 Label: Usher syndrome - 'Usher syndrome' SubClassOf 'disease' - 'Usher syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Usher syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Usher syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Usher syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Usher syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf 'disease' + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410040) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Usher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Usher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Usher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Usher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_887 Label: VACTERL/VATER association - 'VACTERL/VATER association' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'VACTERL/VATER association' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'VACTERL/VATER association' SubClassOf 'malformation syndrome' - 'VACTERL/VATER association' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'VACTERL/VATER association' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'VACTERL/VATER association' SubClassOf 'has_inheritance' some 'sporadic' - 'VACTERL/VATER association' SubClassOf 'has_prevalence' some 'Unknown' - 'VACTERL/VATER association' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'VACTERL/VATER association' SubClassOf 'malformation syndrome' + 'VACTERL/VATER association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'VACTERL/VATER association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'VACTERL/VATER association' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.25"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_888 Label: Van der Woude syndrome - 'Van der Woude syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Van der Woude syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Van der Woude syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Van der Woude syndrome' SubClassOf 'malformation syndrome' - 'Van der Woude syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Van der Woude syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van der Woude syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van der Woude syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Van der Woude syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Van der Woude syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Van der Woude syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Van der Woude syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Van der Woude syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_879 Label: Tungiasis - 'Tungiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Tungiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tungiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tungiasis' SubClassOf 'disease' - 'Tungiasis' SubClassOf 'has_prevalence' some 'Unknown' + 'Tungiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Tungiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tungiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tungiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121263 Label: ectodysplasin A - 'ectodysplasin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'ectodysplasin A' SubClassOf 'gene' - 'ectodysplasin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypohidrotic ectodermal dysplasia' + 'ectodysplasin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12-q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'ectodysplasin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'ectodysplasin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ectodysplasin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_279925 Label: Infectious panuveitis - 'Infectious panuveitis' SubClassOf 'group of disorders' + 'Infectious panuveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_279922 Label: Infectious anterior uveitis - 'Infectious anterior uveitis' SubClassOf 'group of disorders' + 'Infectious anterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121261 Label: extracellular matrix protein 1 - 'extracellular matrix protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoid proteinosis' - 'extracellular matrix protein 1' SubClassOf 'gene' + 'extracellular matrix protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'extracellular matrix protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'extracellular matrix protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Lipoid proteinosis' Class: http://www.orpha.net/ORDO/Orphanet_120130 Label: transmembrane channel-like 1 - 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'transmembrane channel-like 1' SubClassOf 'gene' - 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'transmembrane channel-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'transmembrane channel-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158581 Label: TAR DNA binding protein - 'TAR DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' - 'TAR DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'TAR DNA binding protein' SubClassOf 'gene' + 'TAR DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'TAR DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'TAR DNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'TAR DNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158583 Label: HNF1 homeobox A - 'HNF1 homeobox A' SubClassOf 'gene' - 'HNF1 homeobox A' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'HNF1 homeobox A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to HNF1A deficiency' + 'HNF1 homeobox A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'HNF1 homeobox A' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'HNF1 homeobox A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HNF1 homeobox A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to HNF1A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120137 Label: anoctamin 5 - 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gnathodiaphyseal dysplasia' - 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Miyoshi myopathy' - 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2L' - 'anoctamin 5' SubClassOf 'gene' + 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gnathodiaphyseal dysplasia' + 'anoctamin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal anoctaminopathy' + 'anoctamin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'anoctamin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2L' Class: http://www.orpha.net/ORDO/Orphanet_1995 Label: Cleft lip - retinopathy - 'Cleft lip - retinopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cleft lip - retinopathy' SubClassOf 'malformation syndrome' - 'Cleft lip - retinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleft lip - retinopathy' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft lip - retinopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleft lip - retinopathy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cleft lip - retinopathy' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Cleft lip - retinopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Cleft lip - retinopathy' SubClassOf 'malformation syndrome' + 'Cleft lip - retinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip - retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip - retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_163209 Label: Non-syndromic cerebral malformation due to abnormal neuronal migration - 'Non-syndromic cerebral malformation due to abnormal neuronal migration' SubClassOf 'group of disorders' + 'Non-syndromic cerebral malformation due to abnormal neuronal migration' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157965 Label: Ehlers-Danlos syndrome, spondylocheirodysplastic type - 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1993 Label: Pai syndrome - 'Pai syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pai syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pai syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Pai syndrome' SubClassOf 'malformation syndrome' - 'Pai syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Pai syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Pai syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pai syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Pai syndrome' SubClassOf 'malformation syndrome' + 'Pai syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_158588 Label: HNF1 homeobox B - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral multicystic dysplastic kidney' - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral multicystic dysplastic kidney' - 'HNF1 homeobox B' SubClassOf 'gene' - 'HNF1 homeobox B' SubClassOf 'Candidate gene tested in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal cysts and diabetes syndrome' - 'HNF1 homeobox B' SubClassOf 'Candidate gene tested in' some 'MURCS association' - 'HNF1 homeobox B' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'HNF1 homeobox B' SubClassOf 'Role in the phenotype of' some '17q12 microdeletion syndrome' + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral multicystic dysplastic kidney' + 'HNF1 homeobox B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral multicystic dysplastic kidney' + 'HNF1 homeobox B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12"^^http://www.w3.org/2001/XMLSchema#string + 'HNF1 homeobox B' SubClassOf 'Candidate gene tested in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' + 'HNF1 homeobox B' SubClassOf 'Candidate gene tested in' some 'MURCS association' + 'HNF1 homeobox B' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal cysts and diabetes syndrome' + 'HNF1 homeobox B' SubClassOf 'Role in the phenotype of' some '17q12 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157962 Label: Oculoauricular syndrome, Schorderet type - 'Oculoauricular syndrome, Schorderet type' SubClassOf 'part_of' some 'Major induction processes eye anomaly' - 'Oculoauricular syndrome, Schorderet type' SubClassOf 'malformation syndrome' + 'Oculoauricular syndrome, Schorderet type' SubClassOf 'malformation syndrome' + 'Oculoauricular syndrome, Schorderet type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Major induction processes eye anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1997 Label: Blepharo-cheilo-odontic syndrome - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Congenital ectropion' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'malformation syndrome' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharo-cheilo-odontic syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharo-cheilo-odontic syndrome' SubClassOf 'malformation syndrome' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Blepharo-cheilo-odontic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Blepharo-cheilo-odontic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blepharo-cheilo-odontic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_65748 Label: Multiple keratoacanthoma, Ferguson-Smith type - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'part_of' some 'Benign tumor of palpebral epidermis' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease' + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign tumor of palpebral epidermis' + 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_1979 Label: Lipodystrophy due to peptidic growth factors deficiency - 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'disease' - 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'disease' + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_321573 Label: cytochrome P450, family 2, subfamily U, polypeptide 1 - 'cytochrome P450, family 2, subfamily U, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 2, subfamily U, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 56' + 'cytochrome P450, family 2, subfamily U, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 2, subfamily U, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 56' + 'cytochrome P450, family 2, subfamily U, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_890 Label: Hepatic veno-occlusive disease - 'Hepatic veno-occlusive disease' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Hepatic veno-occlusive disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hepatic veno-occlusive disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hepatic veno-occlusive disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Hepatic veno-occlusive disease' SubClassOf 'disease' + 'Hepatic veno-occlusive disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hepatic veno-occlusive disease' SubClassOf 'disease' + 'Hepatic veno-occlusive disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatic veno-occlusive disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hepatic veno-occlusive disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_157949 Label: Combined immunodeficiency with skin granulomas - 'Combined immunodeficiency with skin granulomas' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Combined immunodeficiency with skin granulomas' SubClassOf 'disease' - 'Combined immunodeficiency with skin granulomas' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Combined immunodeficiency with skin granulomas' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency with skin granulomas' SubClassOf 'disease' + 'Combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_891 Label: Familial exudative vitreoretinopathy - 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial exudative vitreoretinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial exudative vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Familial exudative vitreoretinopathy' SubClassOf 'disease' - 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial exudative vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial exudative vitreoretinopathy' SubClassOf 'disease' + 'Familial exudative vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Familial exudative vitreoretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_403096 Label: pre-mRNA processing factor 4 - 'pre-mRNA processing factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'pre-mRNA processing factor 4' SubClassOf 'gene' + 'pre-mRNA processing factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31-q33"^^http://www.w3.org/2001/XMLSchema#string + 'pre-mRNA processing factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_894 Label: Waardenburg syndrome type 1 - 'Waardenburg syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Waardenburg syndrome type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Waardenburg syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg syndrome type 1' SubClassOf 'part_of' some 'Waardenburg syndrome' - 'Waardenburg syndrome type 1' SubClassOf 'clinical subtype' + 'Waardenburg syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Waardenburg syndrome' + 'Waardenburg syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Waardenburg syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_895 Label: Waardenburg syndrome type 2 - 'Waardenburg syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Waardenburg syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg syndrome type 2' SubClassOf 'part_of' some 'Waardenburg syndrome' - 'Waardenburg syndrome type 2' SubClassOf 'clinical subtype' - 'Waardenburg syndrome type 2' SubClassOf 'has_prevalence' some 'Unknown' + 'Waardenburg syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Waardenburg syndrome' + 'Waardenburg syndrome type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_892 Label: Von Hippel-Lindau disease - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Multiple polyglandular tumor' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Von Hippel-Lindau disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Hippel-Lindau disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Von Hippel-Lindau disease' SubClassOf 'disease' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Von Hippel-Lindau disease' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Von Hippel-Lindau disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Von Hippel-Lindau disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Von Hippel-Lindau disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Von Hippel-Lindau disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Von Hippel-Lindau disease' SubClassOf 'disease' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' + 'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_893 Label: WAGR syndrome - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'WAGR syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'WAGR syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 11' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'WAGR syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'WAGR syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'WAGR syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'WAGR syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'WAGR syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' - 'WAGR syndrome' SubClassOf 'part_of' some 'Syndromic aniridia' - 'WAGR syndrome' SubClassOf 'malformation syndrome' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 11' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'WAGR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'WAGR syndrome' SubClassOf 'malformation syndrome' + 'WAGR syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_898 Label: Wagner disease - 'Wagner disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Wagner disease' SubClassOf 'part_of' some 'Syndromic myopia' - 'Wagner disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Wagner disease' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Wagner disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wagner disease' SubClassOf 'disease' + 'Wagner disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wagner disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Wagner disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Wagner disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wagner disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Wagner disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_899 Label: Walker-Warburg syndrome - 'Walker-Warburg syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Walker-Warburg syndrome' SubClassOf 'disease' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Walker-Warburg syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of fukutin' - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of FKRP' - 'Walker-Warburg syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Walker-Warburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Walker-Warburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Walker-Warburg syndrome' SubClassOf 'disease' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of FKRP' + 'Walker-Warburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Walker-Warburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Walker-Warburg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Walker-Warburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of fukutin' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Walker-Warburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_321575 Label: DDHD domain containing 2 - 'DDHD domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 54' - 'DDHD domain containing 2' SubClassOf 'gene' + 'DDHD domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'DDHD domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 54' + 'DDHD domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_896 Label: Waardenburg syndrome type 3 - 'Waardenburg syndrome type 3' SubClassOf 'part_of' some 'Waardenburg syndrome' - 'Waardenburg syndrome type 3' SubClassOf 'clinical subtype' - 'Waardenburg syndrome type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Waardenburg syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Waardenburg syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg syndrome type 3' SubClassOf 'clinical subtype' + 'Waardenburg syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Waardenburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_897 Label: Waardenburg-Shah syndrome - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Waardenburg-Shah syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Waardenburg-Shah syndrome' SubClassOf 'disease' - 'Waardenburg-Shah syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Waardenburg-Shah syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' + 'Waardenburg-Shah syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Waardenburg-Shah syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg-Shah syndrome' SubClassOf 'disease' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Waardenburg-Shah syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_279928 Label: Paraneoplastic uveitis - 'Paraneoplastic uveitis' SubClassOf 'group of disorders' + 'Paraneoplastic uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120120 Label: thymidine kinase 2, mitochondrial - 'thymidine kinase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, myopathic form' - 'thymidine kinase 2, mitochondrial' SubClassOf 'gene' - 'thymidine kinase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' + 'thymidine kinase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, myopathic form' + 'thymidine kinase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thymidine kinase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22-q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'thymidine kinase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_121250 Label: emopamil binding protein (sterol isomerase) - 'emopamil binding protein (sterol isomerase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digital anomalies - intellectual disability - short stature' - 'emopamil binding protein (sterol isomerase)' SubClassOf 'gene' - 'emopamil binding protein (sterol isomerase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dominant chondrodysplasia punctata' + 'emopamil binding protein (sterol isomerase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked dominant chondrodysplasia punctata' + 'emopamil binding protein (sterol isomerase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digital anomalies - intellectual disability - short stature' + 'emopamil binding protein (sterol isomerase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEND syndrome' + 'emopamil binding protein (sterol isomerase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'emopamil binding protein (sterol isomerase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_279934 Label: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_158595 Label: transcription factor 4 - 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'transcription factor 4' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' - 'transcription factor 4' SubClassOf 'gene' - 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins syndrome' - 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' + 'transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pitt-Hopkins syndrome' + 'transcription factor 4' SubClassOf 'Major susceptibility factor in' some 'Primary sclerosing cholangitis' + 'transcription factor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fuchs endothelial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_889 Label: Cutaneous leukocytoclastic angiitis - 'Cutaneous leukocytoclastic angiitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cutaneous leukocytoclastic angiitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cutaneous leukocytoclastic angiitis' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' - 'Cutaneous leukocytoclastic angiitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutaneous leukocytoclastic angiitis' SubClassOf 'disease' + 'Cutaneous leukocytoclastic angiitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous leukocytoclastic angiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Cutaneous leukocytoclastic angiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Cutaneous leukocytoclastic angiitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cutaneous leukocytoclastic angiitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1980 Label: Bilateral striopallidodentate calcinosis - 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'part_of' some 'Genetic dementia' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'part_of' some 'Rare dementia' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'disease' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'Bilateral striopallidodentate calcinosis' SubClassOf 'disease' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dementia' + 'Bilateral striopallidodentate calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_157954 Label: ANE syndrome - 'ANE syndrome' SubClassOf 'part_of' some 'Alopecia' - 'ANE syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'ANE syndrome' SubClassOf 'disease' - 'ANE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ANE syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'ANE syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'ANE syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'ANE syndrome' SubClassOf 'disease' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'ANE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1986 Label: Gollop-Wolfgang complex - 'Gollop-Wolfgang complex' SubClassOf 'malformation syndrome' - 'Gollop-Wolfgang complex' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Gollop-Wolfgang complex' SubClassOf 'has_prevalence' some 'Unknown' - 'Gollop-Wolfgang complex' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Gollop-Wolfgang complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gollop-Wolfgang complex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gollop-Wolfgang complex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gollop-Wolfgang complex' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Gollop-Wolfgang complex' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Gollop-Wolfgang complex' SubClassOf 'malformation syndrome' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Gollop-Wolfgang complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gollop-Wolfgang complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Gollop-Wolfgang complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_65759 Label: Carpenter syndrome - 'Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carpenter syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carpenter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carpenter syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Carpenter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carpenter syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Carpenter syndrome' SubClassOf 'malformation syndrome' - 'Carpenter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carpenter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Carpenter syndrome' SubClassOf 'malformation syndrome' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Carpenter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121255 Label: endothelin converting enzyme 1 - 'endothelin converting enzyme 1' SubClassOf 'gene' - 'endothelin converting enzyme 1' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'endothelin converting enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'endothelin converting enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.1"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin converting enzyme 1' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' Class: http://www.orpha.net/ORDO/Orphanet_1988 Label: Femoral-facial syndrome - 'Femoral-facial syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Femoral-facial syndrome' SubClassOf 'malformation syndrome' - 'Femoral-facial syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Femoral-facial syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Femoral-facial syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Femoral-facial syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Femoral-facial syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Femoral-facial syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Femoral-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Femoral-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Femoral-facial syndrome' SubClassOf 'malformation syndrome' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Femoral-facial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1987 Label: Femoral agenesis/hypoplasia - 'Femoral agenesis/hypoplasia' SubClassOf 'malformation syndrome' - 'Femoral agenesis/hypoplasia' SubClassOf 'part_of' some 'Non-syndromic limb reduction defect' + 'Femoral agenesis/hypoplasia' SubClassOf 'malformation syndrome' + 'Femoral agenesis/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_3138 Label: Ulnar-mammary syndrome - 'Ulnar-mammary syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ulnar-mammary syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Ulnar-mammary syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Ulnar-mammary syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Ulnar-mammary syndrome' SubClassOf 'malformation syndrome' + 'Ulnar-mammary syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulnar-mammary syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Ulnar-mammary syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Ulnar-mammary syndrome' SubClassOf 'malformation syndrome' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ulnar-mammary syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_3137 Label: Alpha-N-acetylgalactosaminidase deficiency - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'disease' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'disease' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_121246 Label: dysferlin - 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2B' - 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with anterior tibial onset' - 'dysferlin' SubClassOf 'gene' - 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Miyoshi myopathy' - 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy, Paradas type' + 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2B' + 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy with anterior tibial onset' + 'dysferlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Miyoshi myopathy' + 'dysferlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dysferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy, Paradas type' Class: http://www.orpha.net/ORDO/Orphanet_331235 Label: Selective IgM deficiency - 'Selective IgM deficiency' SubClassOf 'disease' - 'Selective IgM deficiency' SubClassOf 'part_of' some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' + 'Selective IgM deficiency' SubClassOf 'disease' + 'Selective IgM deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_818 Label: Smith-Lemli-Opitz syndrome - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Craniofacial anomaly with cataract' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some '46,XY disorder of sex development due to cholesterol synthesis defect' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Smith-Lemli-Opitz syndrome' SubClassOf 'disease' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Smith-Lemli-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Smith-Lemli-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Smith-Lemli-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Lemli-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to cholesterol synthesis defect' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Smith-Lemli-Opitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniofacial anomaly with cataract' + 'Smith-Lemli-Opitz syndrome' SubClassOf 'disease' + 'Smith-Lemli-Opitz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120192 Label: troponin T type 3 (skeletal, fast) - 'troponin T type 3 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' - 'troponin T type 3 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' - 'troponin T type 3 (skeletal, fast)' SubClassOf 'gene' + 'troponin T type 3 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' + 'troponin T type 3 (skeletal, fast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'troponin T type 3 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'troponin T type 3 (skeletal, fast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_819 Label: Smith-Magenis syndrome - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - 'Smith-Magenis syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Smith-Magenis syndrome' SubClassOf 'malformation syndrome' - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Smith-Magenis syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Smith-Magenis syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Smith-Magenis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Smith-Magenis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Smith-Magenis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Smith-Magenis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Smith-Magenis syndrome' SubClassOf 'malformation syndrome' + 'Smith-Magenis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Smith-Magenis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Smith-Magenis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Magenis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Smith-Magenis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Magenis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.35"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_816 Label: Sj�gren-Larsson syndrome - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Sj�gren-Larsson syndrome' SubClassOf 'disease' - 'Sj�gren-Larsson syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sj�gren-Larsson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Sj�gren-Larsson syndrome' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' - 'Sj�gren-Larsson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Sj�gren-Larsson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Sj�gren-Larsson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sj�gren-Larsson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sj�gren-Larsson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sj�gren-Larsson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' + 'Sj�gren-Larsson syndrome' SubClassOf 'disease' + 'Sj�gren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Sj�gren-Larsson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98535 Label: Frontotemporal degeneration with dementia - 'Frontotemporal degeneration with dementia' SubClassOf 'group of disorders' + 'Frontotemporal degeneration with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120190 Label: troponin T type 2 (cardiac) - 'troponin T type 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'troponin T type 2 (cardiac)' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'troponin T type 2 (cardiac)' SubClassOf 'gene' - 'troponin T type 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'troponin T type 2 (cardiac)' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'troponin T type 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'troponin T type 2 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'troponin T type 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'troponin T type 2 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98534 Label: Neurodegenerative disease with dementia - 'Neurodegenerative disease with dementia' SubClassOf 'group of disorders' + 'Neurodegenerative disease with dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_817 Label: Peeling skin syndrome - 'Peeling skin syndrome' SubClassOf 'group of disorders' - 'Peeling skin syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Peeling skin syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peeling skin syndrome' SubClassOf 'group of disorders' + 'Peeling skin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Peeling skin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_331232 Label: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells - 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'group of disorders' + 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3135 Label: Familial Scheuermann disease - 'Familial Scheuermann disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial Scheuermann disease' SubClassOf 'part_of' some 'Osteochondrosis' - 'Familial Scheuermann disease' SubClassOf 'part_of' some 'Osteochondrosis of genetic origin' - 'Familial Scheuermann disease' SubClassOf 'malformation syndrome' - 'Familial Scheuermann disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Familial Scheuermann disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial Scheuermann disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial Scheuermann disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Familial Scheuermann disease' SubClassOf 'malformation syndrome' + 'Familial Scheuermann disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_3134 Label: SCARF syndrome - 'SCARF syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'SCARF syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'SCARF syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SCARF syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SCARF syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'SCARF syndrome' SubClassOf 'malformation syndrome' - 'SCARF syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'SCARF syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'SCARF syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'SCARF syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'SCARF syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SCARF syndrome' SubClassOf 'malformation syndrome' + 'SCARF syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_812 Label: Sialidosis type 1 - 'Sialidosis type 1' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Sialidosis type 1' SubClassOf 'disease' - 'Sialidosis type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sialidosis type 1' SubClassOf 'part_of' some 'Sialidosis' - 'Sialidosis type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sialidosis type 1' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Sialidosis type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Sialidosis type 1' SubClassOf 'disease' + 'Sialidosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis' + 'Sialidosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3133 Label: Say-Field-Coldwell syndrome - 'Say-Field-Coldwell syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Say-Field-Coldwell syndrome' SubClassOf 'malformation syndrome' + 'Say-Field-Coldwell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Say-Field-Coldwell syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120194 Label: tenascin XB - 'tenascin XB' SubClassOf 'gene' - 'tenascin XB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome due to tenascin-X deficiency' - 'tenascin XB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, hypermobility type' + 'tenascin XB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tenascin XB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome due to tenascin-X deficiency' + 'tenascin XB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial vesicoureteral reflux' + 'tenascin XB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, hypermobility type' + 'tenascin XB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_813 Label: Silver-Russell syndrome - 'Silver-Russell syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Silver-Russell syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Silver-Russell syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Silver-Russell syndrome' SubClassOf 'disease' - 'Silver-Russell syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Silver-Russell syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Silver-Russell syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Silver-Russell syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Silver-Russell syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Silver-Russell syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Silver-Russell syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Silver-Russell syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Silver-Russell syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Silver-Russell syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Silver-Russell syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Silver-Russell syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Silver-Russell syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Silver-Russell syndrome' SubClassOf 'disease' + 'Silver-Russell syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3132 Label: Say-Barber-Miller syndrome - 'Say-Barber-Miller syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Say-Barber-Miller syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Say-Barber-Miller syndrome' SubClassOf 'malformation syndrome' - 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Say-Barber-Miller syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Say-Barber-Miller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Say-Barber-Miller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Say-Barber-Miller syndrome' SubClassOf 'malformation syndrome' + 'Say-Barber-Miller syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' Class: http://www.orpha.net/ORDO/Orphanet_121241 Label: dymeclin - 'dymeclin' SubClassOf 'gene' - 'dymeclin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' - 'dymeclin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyggve-Melchior-Clausen disease' + 'dymeclin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dymeclin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dyggve-Melchior-Clausen disease' + 'dymeclin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' + 'dymeclin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_822 Label: Hereditary spherocytosis - 'Hereditary spherocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary spherocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary spherocytosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hereditary spherocytosis' SubClassOf 'disease' - 'Hereditary spherocytosis' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' - 'Hereditary spherocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary spherocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary spherocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary spherocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary spherocytosis' SubClassOf 'disease' + 'Hereditary spherocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary spherocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_821 Label: Sotos syndrome - 'Sotos syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sotos syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sotos syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' - 'Sotos syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Sotos syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Sotos syndrome' SubClassOf 'part_of' some 'Cerebral disease with cataract' - 'Sotos syndrome' SubClassOf 'disease' - 'Sotos syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sotos syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Sotos syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sotos syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Sotos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sotos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Sotos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sotos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Sotos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Sotos syndrome' SubClassOf 'disease' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral disease with cataract' + 'Sotos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Sotos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_83628 Label: PELVIS syndrome - 'PELVIS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'PELVIS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PELVIS syndrome' SubClassOf 'malformation syndrome' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Vascular tumor' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PELVIS syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'PELVIS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PELVIS syndrome' SubClassOf 'malformation syndrome' + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'PELVIS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'PELVIS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PELVIS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_820 Label: Sneddon syndrome - 'Sneddon syndrome' SubClassOf 'disease' - 'Sneddon syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Sneddon syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sneddon syndrome' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' - 'Sneddon syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Sneddon syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sneddon syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sneddon syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Sneddon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Sneddon syndrome' SubClassOf 'disease' + 'Sneddon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sneddon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sneddon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_83629 Label: Leukoencephalopathy - metaphyseal chondrodysplasia - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'disease' - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'disease' + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262019 Label: Partial deletion of the long arm of chromosome 3 - 'Partial deletion of the long arm of chromosome 3' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324416 Label: Muscular hypertrophy - hepatomegaly - polyhydramnios - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'malformation syndrome' + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324410 Label: X-linked intellectual disability - cardiomegaly - congestive heart failure - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'disease' - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'disease' + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_292102 Label: centrosomal protein 63kDa - 'centrosomal protein 63kDa' SubClassOf 'gene' - 'centrosomal protein 63kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 63kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 63kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 63kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_83620 Label: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells - 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' - 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'disease' + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'disease' + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_391994 Label: nuclear mitotic apparatus protein 1 - 'nuclear mitotic apparatus protein 1' SubClassOf 'gene' - 'nuclear mitotic apparatus protein 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'nuclear mitotic apparatus protein 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'nuclear mitotic apparatus protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear mitotic apparatus protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166396 Label: cell adhesion molecule L1-like - 'cell adhesion molecule L1-like' SubClassOf 'gene' - 'cell adhesion molecule L1-like' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' + 'cell adhesion molecule L1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26"^^http://www.w3.org/2001/XMLSchema#string + 'cell adhesion molecule L1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cell adhesion molecule L1-like' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' Class: http://www.orpha.net/ORDO/Orphanet_120188 Label: troponin T type 1 (skeletal, slow) - 'troponin T type 1 (skeletal, slow)' SubClassOf 'gene' - 'troponin T type 1 (skeletal, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish nemaline myopathy' + 'troponin T type 1 (skeletal, slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'troponin T type 1 (skeletal, slow)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish nemaline myopathy' + 'troponin T type 1 (skeletal, slow)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3128 Label: Sakati-Nyhan syndrome - 'Sakati-Nyhan syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sakati-Nyhan syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sakati-Nyhan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sakati-Nyhan syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Sakati-Nyhan syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Sakati-Nyhan syndrome' SubClassOf 'malformation syndrome' - 'Sakati-Nyhan syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Sakati-Nyhan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sakati-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Sakati-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Sakati-Nyhan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sakati-Nyhan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sakati-Nyhan syndrome' SubClassOf 'malformation syndrome' + 'Sakati-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Sakati-Nyhan syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121233 Label: dual oxidase 2 - 'dual oxidase 2' SubClassOf 'gene' - 'dual oxidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' - 'dual oxidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic transient congenital hypothyroidism' + 'dual oxidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dual oxidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'dual oxidase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.3-q21"^^http://www.w3.org/2001/XMLSchema#string + 'dual oxidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic transient congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_331249 Label: Immunodeficiency syndrome with hypopigmentation - 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'group of disorders' + 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121239 Label: double homeobox 4 like 1 - 'double homeobox 4 like 1' SubClassOf 'gene' - 'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' + 'double homeobox 4 like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35.2"^^http://www.w3.org/2001/XMLSchema#string + 'double homeobox 4 like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_166392 Label: contactin 4 - 'contactin 4' SubClassOf 'gene' - 'contactin 4' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' + 'contactin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26.3"^^http://www.w3.org/2001/XMLSchema#string + 'contactin 4' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' + 'contactin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3129 Label: Sarcosinemia - 'Sarcosinemia' SubClassOf 'disease' - 'Sarcosinemia' SubClassOf 'part_of' some 'Disorder of serine or glycine metabolism' - 'Sarcosinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sarcosinemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Sarcosinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sarcosinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sarcosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Sarcosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcosinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sarcosinemia' SubClassOf 'disease' + 'Sarcosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sarcosinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of serine or glycine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_331244 Label: Other immunodeficiency syndrome with predominantly antibody defects - 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'group of disorders' + 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_827 Label: Stargardt disease - 'Stargardt disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Stargardt disease' SubClassOf 'part_of' some 'Familial flecked retinopathy' - 'Stargardt disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stargardt disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Stargardt disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Stargardt disease' SubClassOf 'disease' + 'Stargardt disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' + 'Stargardt disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Stargardt disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Stargardt disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Stargardt disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Stargardt disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Stargardt disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stargardt disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98523 Label: Non-syndromic pontocerebellar hypoplasia - 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'group of disorders' + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'group of disorders' + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_828 Label: Stickler syndrome - 'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Stickler syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'Stickler syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Stickler syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Stickler syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with collagen disease' - 'Stickler syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stickler syndrome' SubClassOf 'disease' - 'Stickler syndrome' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Stickler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Stickler syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Stickler syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Stickler syndrome' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'Stickler syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with collagen disease' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Stickler syndrome' SubClassOf 'disease' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Stickler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Stickler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Stickler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_829 Label: Adult-onset Still disease - 'Adult-onset Still disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult-onset Still disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Adult-onset Still disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Adult-onset Still disease' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Adult-onset Still disease' SubClassOf 'disease' - 'Adult-onset Still disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Adult-onset Still disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Adult-onset Still disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset Still disease' SubClassOf 'disease' + 'Adult-onset Still disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset Still disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult-onset Still disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_331240 Label: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells - 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'group of disorders' + 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120182 Label: troponin I type 2 (skeletal, fast) - 'troponin I type 2 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' - 'troponin I type 2 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' - 'troponin I type 2 (skeletal, fast)' SubClassOf 'gene' + 'troponin I type 2 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'troponin I type 2 (skeletal, fast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' + 'troponin I type 2 (skeletal, fast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'troponin I type 2 (skeletal, fast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98520 Label: Cystic malformation of the posterior fossa - 'Cystic malformation of the posterior fossa' SubClassOf 'group of disorders' + 'Cystic malformation of the posterior fossa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_823 Label: Isolated spina bifida - 'Isolated spina bifida' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated spina bifida' SubClassOf 'group of disorders' - 'Isolated spina bifida' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Isolated spina bifida' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated spina bifida' SubClassOf 'has_inheritance' some 'sporadic' + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf 'group of disorders' + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated spina bifida' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_824 Label: Myelofibrosis with myeloid metaplasia - 'Myelofibrosis with myeloid metaplasia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Myelofibrosis with myeloid metaplasia' SubClassOf 'disease' - 'Myelofibrosis with myeloid metaplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Myelofibrosis with myeloid metaplasia' SubClassOf 'part_of' some 'Rare acquired medullar aplasia' - 'Myelofibrosis with myeloid metaplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Myelofibrosis with myeloid metaplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired medullar aplasia' + 'Myelofibrosis with myeloid metaplasia' SubClassOf 'disease' + 'Myelofibrosis with myeloid metaplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelofibrosis with myeloid metaplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myelofibrosis with myeloid metaplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelofibrosis with myeloid metaplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_3121 Label: Ruvalcaba syndrome - 'Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ruvalcaba syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Ruvalcaba syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Ruvalcaba syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Ruvalcaba syndrome' SubClassOf 'malformation syndrome' - 'Ruvalcaba syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ruvalcaba syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ruvalcaba syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Ruvalcaba syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120184 Label: troponin I type 3 (cardiac) - 'troponin I type 3 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'troponin I type 3 (cardiac)' SubClassOf 'gene' - 'troponin I type 3 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'troponin I type 3 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'troponin I type 3 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'troponin I type 3 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'troponin I type 3 (cardiac)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3124 Label: Saccharopinuria - 'Saccharopinuria' SubClassOf 'disease' - 'Saccharopinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Saccharopinuria' SubClassOf 'part_of' some 'Disorder of lysine and hydroxylysine metabolism' - 'Saccharopinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Saccharopinuria' SubClassOf 'disease' + 'Saccharopinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Saccharopinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysine and hydroxylysine metabolism' + 'Saccharopinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_826 Label: Sporotrichosis - 'Sporotrichosis' SubClassOf 'disease' - 'Sporotrichosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporotrichosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Sporotrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Sporotrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Sporotrichosis' SubClassOf 'disease' + 'Sporotrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporotrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_71198 Label: Rare pulmonary hypertension - 'Rare pulmonary hypertension' SubClassOf 'group of disorders' + 'Rare pulmonary hypertension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262010 Label: Partial deletion of the long arm of chromosome 2 - 'Partial deletion of the long arm of chromosome 2' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_83639 Label: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'disease' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'disease' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_831 Label: Congenital narrowing of cervical spinal canal - 'Congenital narrowing of cervical spinal canal' SubClassOf 'part_of' some 'Medullar disease' - 'Congenital narrowing of cervical spinal canal' SubClassOf 'disease' + 'Congenital narrowing of cervical spinal canal' SubClassOf 'disease' + 'Congenital narrowing of cervical spinal canal' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_830 Label: Stuccokeratosis - 'Stuccokeratosis' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Stuccokeratosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Stuccokeratosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Stuccokeratosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Stuccokeratosis' SubClassOf 'disease' + 'Stuccokeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Stuccokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Stuccokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Stuccokeratosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_283988 Label: VANGL planar cell polarity protein 2 - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'gene' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'VANGL planar cell polarity protein 2' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_98518 Label: Cranial nerve and nuclear aplasia - 'Cranial nerve and nuclear aplasia' SubClassOf 'group of disorders' + 'Cranial nerve and nuclear aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_833 Label: Encephalopathy due to sulfite oxidase deficiency - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'disease' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Lens position anomaly' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amino acid or protein metabolism disease with epilepsy' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'disease' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_832 Label: Succinyl-CoA:3-ketoacid CoA transferase deficiency - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'part_of' some 'Disorder of ketone body metabolism' - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'disease' - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'disease' + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ketone body metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98519 Label: Posterior fossa malformation - 'Posterior fossa malformation' SubClassOf 'group of disorders' + 'Posterior fossa malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98516 Label: Malformation of the cerebellar hemispheres - 'Malformation of the cerebellar hemispheres' SubClassOf 'group of disorders' + 'Malformation of the cerebellar hemispheres' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98514 Label: Malformation of the cerebellar vermis - 'Malformation of the cerebellar vermis' SubClassOf 'group of disorders' + 'Malformation of the cerebellar vermis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_57196 Label: Medial condensing osteitis of the clavicle - 'Medial condensing osteitis of the clavicle' SubClassOf 'disease' - 'Medial condensing osteitis of the clavicle' SubClassOf 'part_of' some 'Osteochondrosis' + 'Medial condensing osteitis of the clavicle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Medial condensing osteitis of the clavicle' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391986 Label: zinc finger and BTB domain containing 16 - 'zinc finger and BTB domain containing 16' SubClassOf 'gene' - 'zinc finger and BTB domain containing 16' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'zinc finger and BTB domain containing 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger and BTB domain containing 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger and BTB domain containing 16' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_121227 Label: dystrobrevin binding protein 1 - 'dystrobrevin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 7' - 'dystrobrevin binding protein 1' SubClassOf 'gene' + 'dystrobrevin binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'dystrobrevin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 7' + 'dystrobrevin binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3157 Label: Septo-optic dysplasia - 'Septo-optic dysplasia' SubClassOf 'malformation syndrome' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Syndromic optic nerve hypoplasia' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Septo-optic dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Septo-optic dysplasia' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Septo-optic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic optic nerve hypoplasia' + 'Septo-optic dysplasia' SubClassOf 'malformation syndrome' + 'Septo-optic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Septo-optic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Septo-optic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Septo-optic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3156 Label: Senior-Loken syndrome - 'Senior-Loken syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Senior-Loken syndrome' SubClassOf 'disease' - 'Senior-Loken syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Senior-Loken syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Senior-Loken syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Senior-Loken syndrome' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' + 'Senior-Loken syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Senior-Loken syndrome' SubClassOf 'disease' + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Senior-Loken syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' Class: http://www.orpha.net/ORDO/Orphanet_834 Label: Free sialic acid storage disease - 'Free sialic acid storage disease' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Free sialic acid storage disease' SubClassOf 'part_of' some 'Disorder of lysosomal amino acid transport' - 'Free sialic acid storage disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Free sialic acid storage disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Free sialic acid storage disease' SubClassOf 'disease' - 'Free sialic acid storage disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Free sialic acid storage disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Free sialic acid storage disease' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' + 'Free sialic acid storage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Free sialic acid storage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' + 'Free sialic acid storage disease' SubClassOf 'disease' + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal amino acid transport' + 'Free sialic acid storage disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_120173 Label: tumor necrosis factor receptor superfamily, member 1A - 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf 'gene' - 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' - 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'TRAPS syndrome' + 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' + 'tumor necrosis factor receptor superfamily, member 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'TRAPS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3152 Label: Sclerosteosis - 'Sclerosteosis' SubClassOf 'malformation syndrome' - 'Sclerosteosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sclerosteosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Sclerosteosis' SubClassOf 'malformation syndrome' + 'Sclerosteosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sclerosteosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_100924 Label: Porphyria due to ALA dehydratase deficiency - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'disease' - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'part_of' some 'Acute hepatic porphyria' + 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'disease' + 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Porphyria due to ALA dehydratase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Porphyria due to ALA dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_262047 Label: Partial deletion of the long arm of chromosome 6 - 'Partial deletion of the long arm of chromosome 6' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_838 Label: Susac syndrome - 'Susac syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Susac syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Susac syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Susac syndrome' SubClassOf 'disease' + 'Susac syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Susac syndrome' SubClassOf 'disease' + 'Susac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3151 Label: Multiple sclerosis - ichthyosis - factor VIII deficiency - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'disease' - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'disease' + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_839 Label: Congenital nephrotic syndrome, Finnish type - 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'disease' - 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome' - 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'disease' + 'Congenital nephrotic syndrome, Finnish type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital nephrotic syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital and infantile nephrotic syndrome' + 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98503 Label: Motor neuron disease - 'Motor neuron disease' SubClassOf 'group of disorders' + 'Motor neuron disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_840 Label: Syringocystadenoma papilliferum - 'Syringocystadenoma papilliferum' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Syringocystadenoma papilliferum' SubClassOf 'has_prevalence' some 'Unknown' - 'Syringocystadenoma papilliferum' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Syringocystadenoma papilliferum' SubClassOf 'has_inheritance' some 'sporadic' - 'Syringocystadenoma papilliferum' SubClassOf 'disease' + 'Syringocystadenoma papilliferum' SubClassOf 'disease' + 'Syringocystadenoma papilliferum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Syringocystadenoma papilliferum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Syringocystadenoma papilliferum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_98505 Label: Genetic motor neuron disease - 'Genetic motor neuron disease' SubClassOf 'group of disorders' + 'Genetic motor neuron disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98506 Label: Acquired motor neuron disease - 'Acquired motor neuron disease' SubClassOf 'group of disorders' + 'Acquired motor neuron disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100932 Label: Nuclear oculomotor paralysis - 'Nuclear oculomotor paralysis' SubClassOf 'group of disorders' + 'Nuclear oculomotor paralysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_844 Label: Atrial tachyarrhythmia with short PR interval - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'disease' - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_inheritance' some 'sporadic' - 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Atrial tachyarrhythmia with short PR interval' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'disease' + 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atrial tachyarrhythmia with short PR interval' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_842 Label: Testicular seminomatous germ cell tumor - 'Testicular seminomatous germ cell tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Testicular seminomatous germ cell tumor' SubClassOf 'has_prevalence' some 'Unknown' - 'Testicular seminomatous germ cell tumor' SubClassOf 'disease' - 'Testicular seminomatous germ cell tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Testicular seminomatous germ cell tumor' SubClassOf 'part_of' some 'Testicular germ cell tumor' + 'Testicular seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "46.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular seminomatous germ cell tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Testicular seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular seminomatous germ cell tumor' SubClassOf 'disease' + 'Testicular seminomatous germ cell tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Testicular seminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_841 Label: Sebocystomatosis - 'Sebocystomatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Sebocystomatosis' SubClassOf 'part_of' some 'Sebaceous gland anomaly' - 'Sebocystomatosis' SubClassOf 'disease' - 'Sebocystomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sebocystomatosis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Sebocystomatosis' SubClassOf 'part_of' some 'Genetic sebaceous gland anomaly' - 'Sebocystomatosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Sebocystomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sebocystomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sebaceous gland anomaly' + 'Sebocystomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sebocystomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic sebaceous gland anomaly' + 'Sebocystomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Sebocystomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sebocystomatosis' SubClassOf 'disease' + 'Sebocystomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_140997 Label: Orofaciodigital syndrome - 'Orofaciodigital syndrome' SubClassOf 'group of disorders' + 'Orofaciodigital syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_83600 Label: Encephalitis lethargica - 'Encephalitis lethargica' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Encephalitis lethargica' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Encephalitis lethargica' SubClassOf 'has_inheritance' some 'sporadic' - 'Encephalitis lethargica' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Encephalitis lethargica' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Encephalitis lethargica' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Encephalitis lethargica' SubClassOf 'disease' + 'Encephalitis lethargica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Encephalitis lethargica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Encephalitis lethargica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Encephalitis lethargica' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_83601 Label: Steroid-responsive encephalopathy associated with autoimmune thyroiditis - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'part_of' some 'Acquired ataxia' - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'part_of' some 'Postinfectious encephalitis' - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'disease' - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'has_inheritance' some 'sporadic' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'disease' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired ataxia' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious encephalitis' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121219 Label: dystrobrevin, alpha - 'dystrobrevin, alpha' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'dystrobrevin, alpha' SubClassOf 'gene' + 'dystrobrevin, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystrobrevin, alpha' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'dystrobrevin, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120169 Label: tumor necrosis factor receptor superfamily, member 13B - 'tumor necrosis factor receptor superfamily, member 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'tumor necrosis factor receptor superfamily, member 13B' SubClassOf 'gene' + 'tumor necrosis factor receptor superfamily, member 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'tumor necrosis factor receptor superfamily, member 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_395960 Label: chromosome 11 open reading frame 95 - 'chromosome 11 open reading frame 95' SubClassOf 'gene' - 'chromosome 11 open reading frame 95' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' + 'chromosome 11 open reading frame 95' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 11 open reading frame 95' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 11 open reading frame 95' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_3148 Label: Malignant peripheral nerve sheath tumor - 'Malignant peripheral nerve sheath tumor' SubClassOf 'part_of' some 'Tumor of cranial and spinal nerves' - 'Malignant peripheral nerve sheath tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Malignant peripheral nerve sheath tumor' SubClassOf 'disease' - 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malignant peripheral nerve sheath tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Malignant peripheral nerve sheath tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Malignant peripheral nerve sheath tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peripheral nerve sheath tumor' SubClassOf 'disease' + 'Malignant peripheral nerve sheath tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of cranial and spinal nerves' Class: http://www.orpha.net/ORDO/Orphanet_845 Label: Tay-Sachs disease - 'Tay-Sachs disease' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Tay-Sachs disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Tay-Sachs disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tay-Sachs disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tay-Sachs disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Tay-Sachs disease' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Tay-Sachs disease' SubClassOf 'part_of' some 'GM2 gangliosidosis' - 'Tay-Sachs disease' SubClassOf 'disease' + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tay-Sachs disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM2 gangliosidosis' + 'Tay-Sachs disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Tay-Sachs disease' SubClassOf 'disease' + 'Tay-Sachs disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3144 Label: Schneckenbecken dysplasia - 'Schneckenbecken dysplasia' SubClassOf 'malformation syndrome' - 'Schneckenbecken dysplasia' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Schneckenbecken dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Schneckenbecken dysplasia' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Schneckenbecken dysplasia' SubClassOf 'part_of' some 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' + 'Schneckenbecken dysplasia' SubClassOf 'malformation syndrome' + 'Schneckenbecken dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_846 Label: Alpha-thalassemia - 'Alpha-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alpha-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-thalassemia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' - 'Alpha-thalassemia' SubClassOf 'group of disorders' - 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' + 'Alpha-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Alpha-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Alpha-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alpha-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia and related diseases' + 'Alpha-thalassemia' SubClassOf 'disease' + 'Alpha-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3143 Label: Autoimmune polyendocrinopathy type 2 - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'disease' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'part_of' some 'Autoimmune polyendocrinopathy' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Autoimmune polyendocrinopathy type 2' SubClassOf 'part_of' some 'Acquired premature ovarian failure' + 'Autoimmune polyendocrinopathy type 2' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired premature ovarian failure' + 'Autoimmune polyendocrinopathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_847 Label: Alpha-thalassemia - X-linked intellectual disability syndrome - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'part_of' some 'Alpha-thalassemia-related diseases' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'part_of' some 'ATR-X-related syndrome' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'disease' - 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia-related diseases' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ATR-X-related syndrome' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'disease' + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_848 Label: Beta-thalassemia - 'Beta-thalassemia' SubClassOf 'group of disorders' - 'Beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-thalassemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Beta-thalassemia' SubClassOf 'group of disorders' + 'Beta-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beta-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3145 Label: Nephrogenic diabetes insipidus - intracranial calcification - 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'disease' - 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'disease' + 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_120164 Label: tumor necrosis factor receptor superfamily, member 11b - 'tumor necrosis factor receptor superfamily, member 11b' SubClassOf 'gene' - 'tumor necrosis factor receptor superfamily, member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease' + 'tumor necrosis factor receptor superfamily, member 11b' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease' + 'tumor necrosis factor receptor superfamily, member 11b' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_849 Label: Glanzmann thrombasthenia - 'Glanzmann thrombasthenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glanzmann thrombasthenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Glanzmann thrombasthenia' SubClassOf 'has_prevalence' some 'Unknown' - 'Glanzmann thrombasthenia' SubClassOf 'disease' - 'Glanzmann thrombasthenia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glanzmann thrombasthenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Glanzmann thrombasthenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glanzmann thrombasthenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glanzmann thrombasthenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glanzmann thrombasthenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262038 Label: Partial deletion of the long arm of chromosome 5 - 'Partial deletion of the long arm of chromosome 5' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120160 Label: tumor necrosis factor receptor superfamily, member 11a, NFKB activator - 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf 'gene' - 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis - hypogammaglobulinemia' - 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial expansile osteolysis' + 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis - hypogammaglobulinemia' + 'tumor necrosis factor receptor superfamily, member 11a, NFKB activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial expansile osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_139402 Label: Drug rash with eosinophilia and systemic symptoms - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'has_prevalence' some 'Unknown' - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'part_of' some 'Rare urticaria' - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'disease' - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'has_inheritance' some 'sporadic' - 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'part_of' some 'Toxic dermatosis' + 'Drug rash with eosinophilia and systemic symptoms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Drug rash with eosinophilia and systemic symptoms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'disease' + 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Drug rash with eosinophilia and systemic symptoms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_86309 Label: DPAGT1-CDG - 'DPAGT1-CDG' SubClassOf 'disease' - 'DPAGT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'DPAGT1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DPAGT1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'DPAGT1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'DPAGT1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'DPAGT1-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'DPAGT1-CDG' SubClassOf 'disease' + 'DPAGT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DPAGT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'DPAGT1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DPAGT1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_851 Label: Paris-Trousseau thrombocytopenia - 'Paris-Trousseau thrombocytopenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Paris-Trousseau thrombocytopenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Paris-Trousseau thrombocytopenia' SubClassOf 'disease' - 'Paris-Trousseau thrombocytopenia' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 11' + 'Paris-Trousseau thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'Paris-Trousseau thrombocytopenia' SubClassOf 'disease' + 'Paris-Trousseau thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 11' + 'Paris-Trousseau thrombocytopenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paris-Trousseau thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paris-Trousseau thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_262029 Label: Partial deletion of the long arm of chromosome 4 - 'Partial deletion of the long arm of chromosome 4' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_853 Label: Fetal and neonatal alloimmune thrombocytopenia - 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'disease' - 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' - 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'has_prevalence' some 'Unknown' + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "112.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'disease' + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_83617 Label: Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'malformation syndrome' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic agammaglobulinemia' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'malformation syndrome' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_852 Label: X-linked thrombocytopenia with normal platelets - 'X-linked thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' - 'X-linked thrombocytopenia with normal platelets' SubClassOf 'part_of' some 'Hereditary thrombocytopenia with normal platelets' + 'X-linked thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' + 'X-linked thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_83619 Label: Macrostomia - preauricular tags - external ophthalmoplegia - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'malformation syndrome' - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_854 Label: Portal vein thrombosis - 'Portal vein thrombosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Portal vein thrombosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Portal vein thrombosis' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Portal vein thrombosis' SubClassOf 'disease' - 'Portal vein thrombosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Portal vein thrombosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' + 'Portal vein thrombosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Portal vein thrombosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Portal vein thrombosis' SubClassOf 'disease' + 'Portal vein thrombosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_238505 Label: Autosomal recessive lymphoproliferative disease - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'part_of' some 'Primary hemophagocytic lymphohistiocytosis' - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'disease' - 'Autosomal recessive lymphoproliferative disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hemophagocytic lymphohistiocytosis' + 'Autosomal recessive lymphoproliferative disease' SubClassOf 'disease' + 'Autosomal recessive lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'Autosomal recessive lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive lymphoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_83616 Label: Rubella panencephalitis - 'Rubella panencephalitis' SubClassOf 'disease' - 'Rubella panencephalitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rubella panencephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Rubella panencephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Rubella panencephalitis' SubClassOf 'part_of' some 'Chronic encephalitis' - 'Rubella panencephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Rubella panencephalitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Rubella panencephalitis' SubClassOf 'disease' + 'Rubella panencephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rubella panencephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic encephalitis' + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Rubella panencephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_139406 Label: Encephalopathy due to prosaposin deficiency - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'disease' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Encephalopathy due to prosaposin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Encephalopathy due to prosaposin deficiency' SubClassOf 'disease' + 'Encephalopathy due to prosaposin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' Class: http://www.orpha.net/ORDO/Orphanet_56044 Label: Carcinoma of the gallbladder - 'Carcinoma of the gallbladder' SubClassOf 'disease' - 'Carcinoma of the gallbladder' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Carcinoma of the gallbladder' SubClassOf 'has_inheritance' some 'sporadic' - 'Carcinoma of the gallbladder' SubClassOf 'part_of' some 'Rare biliary tract cancer' - 'Carcinoma of the gallbladder' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Carcinoma of the gallbladder' SubClassOf 'disease' + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Carcinoma of the gallbladder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Carcinoma of the gallbladder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Carcinoma of the gallbladder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract cancer' + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Carcinoma of the gallbladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C032 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_395954 Label: v-rel avian reticuloendotheliosis viral oncogene homolog A - 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'gene' - 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3175 Label: Spasticity - intellectual disability - X-linked epilepsy - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'disease' + 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'disease' + 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_3172 Label: Eyebrow duplication - syndactyly - 'Eyebrow duplication - syndactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Eyebrow duplication - syndactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Eyebrow duplication - syndactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Eyebrow duplication - syndactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Eyebrow duplication - syndactyly' SubClassOf 'malformation syndrome' + 'Eyebrow duplication - syndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Eyebrow duplication - syndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Eyebrow duplication - syndactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Eyebrow duplication - syndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Eyebrow duplication - syndactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Eyebrow duplication - syndactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3173 Label: Infantile spasms - broad thumbs - 'Infantile spasms - broad thumbs' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Infantile spasms - broad thumbs' SubClassOf 'disease' + 'Infantile spasms - broad thumbs' SubClassOf 'disease' + 'Infantile spasms - broad thumbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262065 Label: Partial deletion of the long arm of chromosome 8 - 'Partial deletion of the long arm of chromosome 8' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3176 Label: Spina bifida - hypospadias - 'Spina bifida - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Spina bifida - hypospadias' SubClassOf 'malformation syndrome' - 'Spina bifida - hypospadias' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' + 'Spina bifida - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Spina bifida - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Spina bifida - hypospadias' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3177 Label: Corneal-cerebellar syndrome - 'Corneal-cerebellar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal-cerebellar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Corneal-cerebellar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Corneal-cerebellar syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Corneal-cerebellar syndrome' SubClassOf 'malformation syndrome' - 'Corneal-cerebellar syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Corneal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Corneal-cerebellar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal-cerebellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corneal-cerebellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Corneal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Corneal-cerebellar syndrome' SubClassOf 'malformation syndrome' + 'Corneal-cerebellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121202 Label: dentin sialophosphoprotein - 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentin dysplasia type I' - 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentin dysplasia type II' - 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentinogenesis imperfecta type 3' - 'dentin sialophosphoprotein' SubClassOf 'gene' - 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentinogenesis imperfecta type 2' + 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentin dysplasia type I' + 'dentin sialophosphoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentin dysplasia type II' + 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentinogenesis imperfecta type 3' + 'dentin sialophosphoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dentin sialophosphoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentinogenesis imperfecta type 2' Class: http://www.orpha.net/ORDO/Orphanet_395930 Label: inhibin, beta A - 'inhibin, beta A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenocarcinoma of ovary' - 'inhibin, beta A' SubClassOf 'gene' + 'inhibin, beta A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenocarcinoma of ovary' + 'inhibin, beta A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15-p13"^^http://www.w3.org/2001/XMLSchema#string + 'inhibin, beta A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221016 Label: Rothmund-Thomson syndrome type 2 - 'Rothmund-Thomson syndrome type 2' SubClassOf 'clinical subtype' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'part_of' some 'Rothmund-Thomson syndrome' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'part_of' some 'Disease with potential neoplastic degeneration associated with ocular features' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rothmund-Thomson syndrome type 2' SubClassOf 'clinical subtype' + 'Rothmund-Thomson syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease with potential neoplastic degeneration associated with ocular features' + 'Rothmund-Thomson syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rothmund-Thomson syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rothmund-Thomson syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Rothmund-Thomson syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139417 Label: Acute transverse myelitis - 'Acute transverse myelitis' SubClassOf 'part_of' some 'Medullar disease' - 'Acute transverse myelitis' SubClassOf 'disease' - 'Acute transverse myelitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Acute transverse myelitis' SubClassOf 'disease' + 'Acute transverse myelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute transverse myelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_140976 Label: RHYNS syndrome - 'RHYNS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'RHYNS syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'RHYNS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'RHYNS syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'RHYNS syndrome' SubClassOf 'disease' + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'RHYNS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'RHYNS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'RHYNS syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_238517 Label: Hypotonia - cystinuria type 1 - 'Hypotonia - cystinuria type 1' SubClassOf 'group of disorders' + 'Hypotonia - cystinuria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotonia - cystinuria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia - cystinuria type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotonia - cystinuria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia - cystinuria type 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238510 Label: Lymphoproliferative syndrome - 'Lymphoproliferative syndrome' SubClassOf 'group of disorders' + 'Lymphoproliferative syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139411 Label: Carney triad - 'Carney triad' SubClassOf 'part_of' some 'Multiple polyglandular tumor' - 'Carney triad' SubClassOf 'disease' - 'Carney triad' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Carney triad' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Carney triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Carney triad' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Carney triad' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Carney triad' SubClassOf 'disease' + 'Carney triad' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_237464 Label: tolloid-like 1 - 'tolloid-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium primum type' - 'tolloid-like 1' SubClassOf 'gene' - 'tolloid-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'tolloid-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium primum type' + 'tolloid-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tolloid-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q32-q33"^^http://www.w3.org/2001/XMLSchema#string + 'tolloid-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' Class: http://www.orpha.net/ORDO/Orphanet_237462 Label: T-box 20 - 'T-box 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'T-box 20' SubClassOf 'gene' + 'T-box 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Atrial septal defect, ostium secundum type' + 'T-box 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Atrial septal defect, ostium secundum type' + 'T-box 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139414 Label: Congenital panfollicular nevus - 'Congenital panfollicular nevus' SubClassOf 'disease' - 'Congenital panfollicular nevus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital panfollicular nevus' SubClassOf 'part_of' some 'Rare nevus' - 'Congenital panfollicular nevus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital panfollicular nevus' SubClassOf 'disease' + 'Congenital panfollicular nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Congenital panfollicular nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital panfollicular nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital panfollicular nevus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3161 Label: Congenital pulmonary sequestration - 'Congenital pulmonary sequestration' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital pulmonary sequestration' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary sequestration' SubClassOf 'malformation syndrome' + 'Congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital pulmonary sequestration' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_172976 Label: Congenital myopathy with cores - 'Congenital myopathy with cores' SubClassOf 'group of disorders' + 'Congenital myopathy with cores' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3162 Label: S�zary syndrome - 'S�zary syndrome' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'S�zary syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'S�zary syndrome' SubClassOf 'disease' - 'S�zary syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'S�zary syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.012"^^http://www.w3.org/2001/XMLSchema#string) + 'S�zary syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'S�zary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'S�zary syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'S�zary syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3163 Label: SHORT syndrome - 'SHORT syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SHORT syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'SHORT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'SHORT syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'SHORT syndrome' SubClassOf 'part_of' some 'Syndromic hyperopia' - 'SHORT syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'SHORT syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'SHORT syndrome' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'SHORT syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'SHORT syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SHORT syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'SHORT syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'SHORT syndrome' SubClassOf 'malformation syndrome' - 'SHORT syndrome' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'SHORT syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'SHORT syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'SHORT syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'SHORT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'SHORT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SHORT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hyperopia' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'SHORT syndrome' SubClassOf 'malformation syndrome' + 'SHORT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_3164 Label: Omphalocele syndrome, Shprintzen-Goldberg type - 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'malformation syndrome' - 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'malformation syndrome' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_3165 Label: Eosinophilic fasciitis - 'Eosinophilic fasciitis' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Eosinophilic fasciitis' SubClassOf 'part_of' some 'Rare systemic disease' - 'Eosinophilic fasciitis' SubClassOf 'disease' - 'Eosinophilic fasciitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Eosinophilic fasciitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Eosinophilic fasciitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Eosinophilic fasciitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Eosinophilic fasciitis' SubClassOf 'disease' + 'Eosinophilic fasciitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Eosinophilic fasciitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_262056 Label: Partial deletion of the long arm of chromosome 7 - 'Partial deletion of the long arm of chromosome 7' SubClassOf 'group of disorders' + 'Partial deletion of the long arm of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3166 Label: Sialuria - 'Sialuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sialuria' SubClassOf 'part_of' some 'Disorder of sialic acid metabolism' - 'Sialuria' SubClassOf 'disease' + 'Sialuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of sialic acid metabolism' + 'Sialuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sialuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3167 Label: Siegler-Brewer-Carey syndrome - 'Siegler-Brewer-Carey syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Siegler-Brewer-Carey syndrome' SubClassOf 'malformation syndrome' - 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Siegler-Brewer-Carey syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Siegler-Brewer-Carey syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Siegler-Brewer-Carey syndrome' SubClassOf 'malformation syndrome' + 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Siegler-Brewer-Carey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3168 Label: Sillence syndrome - 'Sillence syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sillence syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sillence syndrome' SubClassOf 'malformation syndrome' - 'Sillence syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sillence syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Sillence syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Sillence syndrome' SubClassOf 'malformation syndrome' + 'Sillence syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sillence syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sillence syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sillence syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3169 Label: Sirenomelia - 'Sirenomelia' SubClassOf 'has_inheritance' some 'sporadic' - 'Sirenomelia' SubClassOf 'malformation syndrome' - 'Sirenomelia' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' - 'Sirenomelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sirenomelia' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Sirenomelia' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' - 'Sirenomelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410040) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sirenomelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf 'malformation syndrome' + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.009"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Sirenomelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.79"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_331206 Label: Severe combined immunodeficiency due to complete RAG1/2 deficiency - 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_168413 Label: alveolar soft part sarcoma chromosome region, candidate 1 - 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf 'Part of a fusion gene in' some 'Alveolar soft-tissue sarcoma' - 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf 'gene' + 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string + 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alveolar soft part sarcoma chromosome region, candidate 1' SubClassOf 'Part of a fusion gene in' some 'Alveolar soft-tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_139426 Label: Perioral myoclonia with absences - 'Perioral myoclonia with absences' SubClassOf 'disease' - 'Perioral myoclonia with absences' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Perioral myoclonia with absences' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Perioral myoclonia with absences' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Perioral myoclonia with absences' SubClassOf 'disease' + 'Perioral myoclonia with absences' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Perioral myoclonia with absences' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Perioral myoclonia with absences' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324442 Label: Autosomal recessive axonal neuropathy with neuromyotonia - 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'disease' - 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'disease' + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_292134 Label: thyroid hormone receptor, alpha - 'thyroid hormone receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral resistance to thyroid hormones' - 'thyroid hormone receptor, alpha' SubClassOf 'gene' + 'thyroid hormone receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral resistance to thyroid hormones' + 'thyroid hormone receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid hormone receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140989 Label: Primary central nervous system vasculitis - 'Primary central nervous system vasculitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary central nervous system vasculitis' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' - 'Primary central nervous system vasculitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary central nervous system vasculitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary central nervous system vasculitis' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Primary central nervous system vasculitis' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Primary central nervous system vasculitis' SubClassOf 'disease' + 'Primary central nervous system vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Primary central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Primary central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Primary central nervous system vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary central nervous system vasculitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary central nervous system vasculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168409 Label: platelet-derived growth factor beta polypeptide - 'platelet-derived growth factor beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' - 'platelet-derived growth factor beta polypeptide' SubClassOf 'gene' - 'platelet-derived growth factor beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Dermatofibrosarcoma protuberans' - 'platelet-derived growth factor beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' + 'platelet-derived growth factor beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-derived growth factor beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Dermatofibrosarcoma protuberans' + 'platelet-derived growth factor beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral striopallidodentate calcinosis' + 'platelet-derived growth factor beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-derived growth factor beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' Class: http://www.orpha.net/ORDO/Orphanet_221008 Label: Rothmund-Thomson syndrome type 1 - 'Rothmund-Thomson syndrome type 1' SubClassOf 'part_of' some 'Rothmund-Thomson syndrome' - 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rothmund-Thomson syndrome type 1' SubClassOf 'clinical subtype' - 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Rothmund-Thomson syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rothmund-Thomson syndrome type 1' SubClassOf 'clinical subtype' + 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rothmund-Thomson syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rothmund-Thomson syndrome' + 'Rothmund-Thomson syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_302892 Label: intraflagellar transport 140 - 'intraflagellar transport 140' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'intraflagellar transport 140' SubClassOf 'gene' - 'intraflagellar transport 140' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saldino-Mainzer syndrome' + 'intraflagellar transport 140' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 140' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'intraflagellar transport 140' SubClassOf 'Disease-causing germline mutation(s) in' some 'Saldino-Mainzer syndrome' + 'intraflagellar transport 140' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139420 Label: Secondary acute transverse myelitis - 'Secondary acute transverse myelitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Secondary acute transverse myelitis' SubClassOf 'part_of' some 'Acute transverse myelitis' - 'Secondary acute transverse myelitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Secondary acute transverse myelitis' SubClassOf 'clinical subtype' - 'Secondary acute transverse myelitis' SubClassOf 'has_prevalence' some 'Unknown' + 'Secondary acute transverse myelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Secondary acute transverse myelitis' SubClassOf 'clinical subtype' + 'Secondary acute transverse myelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute transverse myelitis' + 'Secondary acute transverse myelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_238523 Label: Atypical hypotonia - cystinuria syndrome - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'part_of' some 'Hypotonia - cystinuria type 1' - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'disease' - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Atypical hypotonia - cystinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypotonia - cystinuria type 1' + 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'disease' + 'Atypical hypotonia - cystinuria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139423 Label: Idiopathic acute transverse myelitis - 'Idiopathic acute transverse myelitis' SubClassOf 'part_of' some 'Acute transverse myelitis' - 'Idiopathic acute transverse myelitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic acute transverse myelitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic acute transverse myelitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic acute transverse myelitis' SubClassOf 'clinical subtype' + 'Idiopathic acute transverse myelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic acute transverse myelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute transverse myelitis' + 'Idiopathic acute transverse myelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic acute transverse myelitis' SubClassOf 'clinical subtype' + 'Idiopathic acute transverse myelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3198 Label: Stiff person syndrome - 'Stiff person syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Stiff person syndrome' SubClassOf 'part_of' some 'Rare movement disorder' - 'Stiff person syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Stiff person syndrome' SubClassOf 'disease' - 'Stiff person syndrome' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'Stiff person syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Stiff person syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare movement disorder' + 'Stiff person syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Stiff person syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Stiff person syndrome' SubClassOf 'disease' + 'Stiff person syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Stiff person syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_3199 Label: Stimmler syndrome - 'Stimmler syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Stimmler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Stimmler syndrome' SubClassOf 'malformation syndrome' - 'Stimmler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Stimmler syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Stimmler syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Stimmler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Stimmler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Stimmler syndrome' SubClassOf 'malformation syndrome' + 'Stimmler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Stimmler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Stimmler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3196 Label: Steroid dehydrogenase deficiency - dental anomalies - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'malformation syndrome' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3197 Label: Hereditary hyperekplexia - 'Hereditary hyperekplexia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary hyperekplexia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary hyperekplexia' SubClassOf 'part_of' some 'Rare genetic movement disorder' - 'Hereditary hyperekplexia' SubClassOf 'part_of' some 'Metabolic disease involving other neurotransmitter deficiency' - 'Hereditary hyperekplexia' SubClassOf 'disease' - 'Hereditary hyperekplexia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hereditary hyperekplexia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hyperekplexia' SubClassOf 'part_of' some 'Hyperekplexia' - 'Hereditary hyperekplexia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease involving other neurotransmitter deficiency' + 'Hereditary hyperekplexia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary hyperekplexia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hyperekplexia' SubClassOf 'disease' + 'Hereditary hyperekplexia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary hyperekplexia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic movement disorder' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperekplexia' + 'Hereditary hyperekplexia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3194 Label: Stern-Lubinsky-Durrie syndrome - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'malformation syndrome' - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Stern-Lubinsky-Durrie syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Stern-Lubinsky-Durrie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'malformation syndrome' + 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Stern-Lubinsky-Durrie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3195 Label: Sternal malformation - vascular dysplasia - 'Sternal malformation - vascular dysplasia' SubClassOf 'part_of' some 'Vascular anomaly or angioma' - 'Sternal malformation - vascular dysplasia' SubClassOf 'malformation syndrome' + 'Sternal malformation - vascular dysplasia' SubClassOf 'malformation syndrome' + 'Sternal malformation - vascular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular anomaly or angioma' Class: http://www.orpha.net/ORDO/Orphanet_262083 Label: Partial monosomy of the long arm of chromosome 10 - 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'group of disorders' + 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331217 Label: Other immunodeficiency syndrome due to defects in adaptive immunity - 'Other immunodeficiency syndrome due to defects in adaptive immunity' SubClassOf 'group of disorders' + 'Other immunodeficiency syndrome due to defects in adaptive immunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238536 Label: Congenital secondary polycythemia - 'Congenital secondary polycythemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital secondary polycythemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital secondary polycythemia' SubClassOf 'group of disorders' - 'Congenital secondary polycythemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital secondary polycythemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital secondary polycythemia' SubClassOf 'group of disorders' + 'Congenital secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_83648 Label: X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction - 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'disease' - 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140952 Label: Syndactyly - telecanthus - anogenital and renal malformations - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'malformation syndrome' + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221039 Label: Hereditary sclerosing poikiloderma, Weary type - 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'part_of' some 'Hereditary poikiloderma' - 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'disease' + 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' + 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140957 Label: Autosomal dominant macrothrombocytopenia - 'Autosomal dominant macrothrombocytopenia' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Autosomal dominant macrothrombocytopenia' SubClassOf 'disease' - 'Autosomal dominant macrothrombocytopenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant macrothrombocytopenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant macrothrombocytopenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant macrothrombocytopenia' SubClassOf 'disease' + 'Autosomal dominant macrothrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'Autosomal dominant macrothrombocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_83642 Label: Microcytic anemia with liver iron overload - 'Microcytic anemia with liver iron overload' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' - 'Microcytic anemia with liver iron overload' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'Microcytic anemia with liver iron overload' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcytic anemia with liver iron overload' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcytic anemia with liver iron overload' SubClassOf 'disease' + 'Microcytic anemia with liver iron overload' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcytic anemia with liver iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'Microcytic anemia with liver iron overload' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcytic anemia with liver iron overload' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcytic anemia with liver iron overload' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Microcytic anemia with liver iron overload' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcytic anemia with liver iron overload' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3193 Label: Supravalvular aortic stenosis - 'Supravalvular aortic stenosis' SubClassOf 'morphological anomaly' - 'Supravalvular aortic stenosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Supravalvular aortic stenosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Supravalvular aortic stenosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Supravalvular aortic stenosis' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Supravalvular aortic stenosis' SubClassOf 'part_of' some 'Aortic malformation' + 'Supravalvular aortic stenosis' SubClassOf 'morphological anomaly' + 'Supravalvular aortic stenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Supravalvular aortic stenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Supravalvular aortic stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Supravalvular aortic stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3192 Label: Supravalvular pulmonary stenosis - 'Supravalvular pulmonary stenosis' SubClassOf 'clinical subtype' - 'Supravalvular pulmonary stenosis' SubClassOf 'part_of' some 'Congenital pulmonary valve stenosis' + 'Supravalvular pulmonary stenosis' SubClassOf 'clinical subtype' + 'Supravalvular pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary valve stenosis' Class: http://www.orpha.net/ORDO/Orphanet_3191 Label: Subaortic stenosis - short stature - 'Subaortic stenosis - short stature' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Subaortic stenosis - short stature' SubClassOf 'malformation syndrome' + 'Subaortic stenosis - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Subaortic stenosis - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3190 Label: Subpulmonary stenosis - 'Subpulmonary stenosis' SubClassOf 'clinical subtype' - 'Subpulmonary stenosis' SubClassOf 'part_of' some 'Congenital pulmonary valve stenosis' + 'Subpulmonary stenosis' SubClassOf 'clinical subtype' + 'Subpulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary valve stenosis' Class: http://www.orpha.net/ORDO/Orphanet_139436 Label: Multicentric reticulohistiocytosis - 'Multicentric reticulohistiocytosis' SubClassOf 'disease' - 'Multicentric reticulohistiocytosis' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Multicentric reticulohistiocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Multicentric reticulohistiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' - 'Multicentric reticulohistiocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multicentric reticulohistiocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Multicentric reticulohistiocytosis' SubClassOf 'disease' + 'Multicentric reticulohistiocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multicentric reticulohistiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multicentric reticulohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Multicentric reticulohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_800 Label: Schwartz-Jampel syndrome - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Congenital myotonia' - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'Schwartz-Jampel syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schwartz-Jampel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Schwartz-Jampel syndrome' SubClassOf 'disease' - 'Schwartz-Jampel syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Perlecan-related bone disorder' - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of perlecan' - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Progressive muscular dystrophy' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perlecan-related bone disorder' + 'Schwartz-Jampel syndrome' SubClassOf 'disease' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Schwartz-Jampel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schwartz-Jampel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of perlecan' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myotonia' + 'Schwartz-Jampel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139431 Label: Jeavons syndrome - 'Jeavons syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Jeavons syndrome' SubClassOf 'disease' - 'Jeavons syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Jeavons syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Jeavons syndrome' SubClassOf 'disease' + 'Jeavons syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Jeavons syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Jeavons syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_801 Label: Scleroderma - 'Scleroderma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Scleroderma' SubClassOf 'has_inheritance' some 'sporadic' - 'Scleroderma' SubClassOf 'group of disorders' - 'Scleroderma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.41"^^http://www.w3.org/2001/XMLSchema#string) + 'Scleroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "472.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Scleroderma' SubClassOf 'group of disorders' + 'Scleroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3188 Label: Congenital pulmonary veins atresia or stenosis - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'group of disorders' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'group of disorders' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3189 Label: Congenital pulmonary valve stenosis - 'Congenital pulmonary valve stenosis' SubClassOf 'morphological anomaly' - 'Congenital pulmonary valve stenosis' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Congenital pulmonary valve stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pulmonary valve stenosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Congenital pulmonary valve stenosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital pulmonary valve stenosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf 'morphological anomaly' + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "63.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "63.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital pulmonary valve stenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "59.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary valve stenosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "98.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_803 Label: Amyotrophic lateral sclerosis - 'Amyotrophic lateral sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Amyotrophic lateral sclerosis' SubClassOf 'part_of' some 'Motor neuron disease' - 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amyotrophic lateral sclerosis' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Amyotrophic lateral sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Amyotrophic lateral sclerosis' SubClassOf 'disease' + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf 'disease' + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410227) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor neuron disease' + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410227) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410063) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.57"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.97"^^http://www.w3.org/2001/XMLSchema#string) + 'Amyotrophic lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_806 Label: Scott syndrome - 'Scott syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Scott syndrome' SubClassOf 'disease' - 'Scott syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Scott syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Scott syndrome' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'Scott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Scott syndrome' SubClassOf 'disease' + 'Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'Scott syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_805 Label: Tuberous sclerosis - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Tuberous sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' - 'Tuberous sclerosis' SubClassOf 'disease' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Tuberous sclerosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' - 'Tuberous sclerosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Rare disease with autism' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Phakomatosis with eye involvement' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Tuberous sclerosis' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Tuberous sclerosis' SubClassOf 'disease' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phakomatosis with eye involvement' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurocutaneous syndrome with epilepsy' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Tuberous sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tuberous sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_331220 Label: Immunodeficiency due to absence of thymus - 'Immunodeficiency due to absence of thymus' SubClassOf 'group of disorders' + 'Immunodeficiency due to absence of thymus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3184 Label: Steatocystoma multiplex - natal teeth - 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'part_of' some 'Sebaceous gland anomaly' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'part_of' some 'Genetic sebaceous gland anomaly' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'malformation syndrome' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Steatocystoma multiplex - natal teeth' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Steatocystoma multiplex - natal teeth' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Steatocystoma multiplex - natal teeth' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic sebaceous gland anomaly' + 'Steatocystoma multiplex - natal teeth' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Steatocystoma multiplex - natal teeth' SubClassOf 'malformation syndrome' + 'Steatocystoma multiplex - natal teeth' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Steatocystoma multiplex - natal teeth' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sebaceous gland anomaly' + 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Steatocystoma multiplex - natal teeth' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_808 Label: Seckel syndrome - 'Seckel syndrome' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Seckel syndrome' SubClassOf 'malformation syndrome' - 'Seckel syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Seckel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Seckel syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Seckel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Seckel syndrome' SubClassOf 'malformation syndrome' + 'Seckel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Seckel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Seckel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_404128 Label: DnaJ (Hsp40) homolog, subfamily B, member 1 - 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf 'gene' - 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' + 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string + 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_172996 Label: transmembrane protein 185A - 'transmembrane protein 185A' SubClassOf 'gene' - 'transmembrane protein 185A' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXF syndrome' + 'transmembrane protein 185A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 185A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 185A' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3186 Label: Holoprosencephaly - radial heart renal anomalies - 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'malformation syndrome' - 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_809 Label: Mixed connective tissue disease - 'Mixed connective tissue disease' SubClassOf 'part_of' some 'Overlapping connective tissue disease' - 'Mixed connective tissue disease' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Mixed connective tissue disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Mixed connective tissue disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mixed connective tissue disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Mixed connective tissue disease' SubClassOf 'disease' - 'Mixed connective tissue disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mixed connective tissue disease' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overlapping connective tissue disease' + 'Mixed connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mixed connective tissue disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Mixed connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Mixed connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Mixed connective tissue disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Mixed connective tissue disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mixed connective tissue disease' SubClassOf 'disease' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_331223 Label: Hyper-IgE syndrome - 'Hyper-IgE syndrome' SubClassOf 'group of disorders' + 'Hyper-IgE syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262074 Label: Partial monosomy of the long arm of chromosome 9 - 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'group of disorders' + 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331226 Label: Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency - 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive hyper-IgE syndrome' - 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'disease' + 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'clinical subtype' + 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_140966 Label: Palmoplantar keratoderma, Nagashima type - 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'disease' - 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' - 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Palmoplantar keratoderma, Nagashima type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'disease' + 'Palmoplantar keratoderma, Nagashima type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_238547 Label: Acquired secondary polycythemia - 'Acquired secondary polycythemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired secondary polycythemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acquired secondary polycythemia' SubClassOf 'group of disorders' - 'Acquired secondary polycythemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Acquired secondary polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acquired secondary polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired secondary polycythemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140963 Label: Bilateral microtia - deafness - cleft palate - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'malformation syndrome' - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bilateral microtia - deafness - cleft palate' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Bilateral microtia - deafness - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Bilateral microtia - deafness - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Bilateral microtia - deafness - cleft palate' SubClassOf 'malformation syndrome' + 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bilateral microtia - deafness - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bilateral microtia - deafness - cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324422 Label: ALG13-CDG - 'ALG13-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG13-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG13-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG13-CDG' SubClassOf 'disease' - 'ALG13-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'ALG13-CDG' SubClassOf 'has_inheritance' some 'x linked recessive' - 'ALG13-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'ALG13-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG13-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG13-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG13-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'ALG13-CDG' SubClassOf 'disease' + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_140969 Label: Saldino-Mainzer syndrome - 'Saldino-Mainzer syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Saldino-Mainzer syndrome' SubClassOf 'disease' - 'Saldino-Mainzer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Saldino-Mainzer syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Saldino-Mainzer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Saldino-Mainzer syndrome' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Saldino-Mainzer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Saldino-Mainzer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Saldino-Mainzer syndrome' SubClassOf 'disease' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_3180 Label: Spondylocamptodactyly syndrome - 'Spondylocamptodactyly syndrome' SubClassOf 'malformation syndrome' - 'Spondylocamptodactyly syndrome' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' + 'Spondylocamptodactyly syndrome' SubClassOf 'malformation syndrome' + 'Spondylocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_139447 Label: Progressive cavitating leukoencephalopathy - 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive cavitating leukoencephalopathy' SubClassOf 'disease' - 'Progressive cavitating leukoencephalopathy' SubClassOf 'part_of' some 'Leukodystrophy' + 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive cavitating leukoencephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive cavitating leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive cavitating leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Progressive cavitating leukoencephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139444 Label: Leukoencephalopathy with bilateral anterior temporal lobe cysts - 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'disease' - 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'part_of' some 'Leukodystrophy' + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'disease' + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3181 Label: Sprengel deformity - 'Sprengel deformity' SubClassOf 'morphological anomaly' - 'Sprengel deformity' SubClassOf 'part_of' some 'Thoracic malformation' + 'Sprengel deformity' SubClassOf 'morphological anomaly' + 'Sprengel deformity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_290194 Label: zinc finger protein 711 - 'zinc finger protein 711' SubClassOf 'gene' - 'zinc finger protein 711' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 711' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 711' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 711' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_810 Label: Shigellosis - 'Shigellosis' SubClassOf 'disease' - 'Shigellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Shigellosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Shigellosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Shigellosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Shigellosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Shigellosis' SubClassOf 'disease' + 'Shigellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Shigellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_811 Label: Shwachman-Diamond syndrome - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Shwachman-Diamond syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Shwachman-Diamond syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Shwachman-Diamond syndrome' SubClassOf 'disease' - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Genetic pancreatic disease' - 'Shwachman-Diamond syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf 'disease' + 'Shwachman-Diamond syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Shwachman-Diamond syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Shwachman-Diamond syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410170) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pancreatic disease' + 'Shwachman-Diamond syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Shwachman-Diamond syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_139441 Label: Hypomyelination with atrophy of basal ganglia and cerebellum - 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'disease' - 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'disease' + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_238544 Label: tetratricopeptide repeat domain 37 - 'tetratricopeptide repeat domain 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' - 'tetratricopeptide repeat domain 37' SubClassOf 'gene' + 'tetratricopeptide repeat domain 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' + 'tetratricopeptide repeat domain 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q15"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat domain 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3105 Label: Robinow-like syndrome - 'Robinow-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Robinow-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Robinow-like syndrome' SubClassOf 'malformation syndrome' - 'Robinow-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Robinow-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Robinow-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Robinow-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Robinow-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Robinow-like syndrome' SubClassOf 'malformation syndrome' + 'Robinow-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Robinow-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Robinow-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Robinow-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3103 Label: Roberts syndrome - 'Roberts syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Roberts syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Roberts syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Roberts syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Roberts syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Roberts syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Roberts syndrome' SubClassOf 'part_of' some 'Musculoskeletal disease with cataract' - 'Roberts syndrome' SubClassOf 'malformation syndrome' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Roberts syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Roberts syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Roberts syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Roberts syndrome' SubClassOf 'malformation syndrome' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Musculoskeletal disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_3104 Label: Robin sequence - oligodactyly - 'Robin sequence - oligodactyly' SubClassOf 'malformation syndrome' - 'Robin sequence - oligodactyly' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Robin sequence - oligodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Robin sequence - oligodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3109 Label: Mayer-Rokitansky-K�ster-Hauser syndrome - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Partial bilateral aplasia of the M�llerian ducts' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'malformation syndrome' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some 'Female infertility due to an implantation defect of genetic origin' - 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial bilateral aplasia of the M�llerian ducts' + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect of genetic origin' + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'malformation syndrome' + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' Class: http://www.orpha.net/ORDO/Orphanet_280615 Label: Hemoglobinopathy Toms River - 'Hemoglobinopathy Toms River' SubClassOf 'disease' - 'Hemoglobinopathy Toms River' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemoglobinopathy Toms River' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemoglobinopathy Toms River' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobinopathy Toms River' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hemoglobinopathy Toms River' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemoglobinopathy Toms River' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Hemoglobinopathy Toms River' SubClassOf 'disease' + 'Hemoglobinopathy Toms River' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemoglobinopathy Toms River' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_3107 Label: Autosomal dominant Robinow syndrome - 'Autosomal dominant Robinow syndrome' SubClassOf 'part_of' some 'Robinow syndrome' - 'Autosomal dominant Robinow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant Robinow syndrome' SubClassOf 'clinical subtype' - 'Autosomal dominant Robinow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Robinow syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Robinow syndrome' + 'Autosomal dominant Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant Robinow syndrome' SubClassOf 'clinical subtype' + 'Autosomal dominant Robinow syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Robinow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98664 Label: Genetic macular dystrophy - 'Genetic macular dystrophy' SubClassOf 'group of disorders' + 'Genetic macular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98665 Label: Colobomatous and areolar dystrophy - 'Colobomatous and areolar dystrophy' SubClassOf 'group of disorders' + 'Colobomatous and areolar dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98666 Label: Unclassified primitive or secondary maculopathy - 'Unclassified primitive or secondary maculopathy' SubClassOf 'group of disorders' + 'Unclassified primitive or secondary maculopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98667 Label: Disease predisposing to age-related macular degeneration - 'Disease predisposing to age-related macular degeneration' SubClassOf 'group of disorders' + 'Disease predisposing to age-related macular degeneration' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3101 Label: Richieri Costa-da Silva syndrome - 'Richieri Costa-da Silva syndrome' SubClassOf 'malformation syndrome' - 'Richieri Costa-da Silva syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Richieri Costa-da Silva syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Richieri Costa-da Silva syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Richieri Costa-da Silva syndrome' SubClassOf 'malformation syndrome' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98661 Label: Syndromic retinitis pigmentosa - 'Syndromic retinitis pigmentosa' SubClassOf 'group of disorders' + 'Syndromic retinitis pigmentosa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3102 Label: Richieri Costa-Pereira syndrome - 'Richieri Costa-Pereira syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Richieri Costa-Pereira syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Richieri Costa-Pereira syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Richieri Costa-Pereira syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Richieri Costa-Pereira syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Richieri Costa-Pereira syndrome' SubClassOf 'malformation syndrome' - 'Richieri Costa-Pereira syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-Pereira syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Richieri Costa-Pereira syndrome' SubClassOf 'malformation syndrome' + 'Richieri Costa-Pereira syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-Pereira syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Richieri Costa-Pereira syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_230857 Label: Ehlers-Danlos/osteogenesis imperfecta syndrome - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease' - 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98662 Label: Unclassified familial retinal dystrophy - 'Unclassified familial retinal dystrophy' SubClassOf 'group of disorders' + 'Unclassified familial retinal dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_292309 Label: Snf2-related CREBBP activator protein - 'Snf2-related CREBBP activator protein' SubClassOf 'gene' - 'Snf2-related CREBBP activator protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Floating-Harbor syndrome' + 'Snf2-related CREBBP activator protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'Snf2-related CREBBP activator protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Floating-Harbor syndrome' + 'Snf2-related CREBBP activator protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251014 Label: 2q31.1 microdeletion syndrome - '2q31.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q31.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q31.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q31.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q31.1 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' + '2q31.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q31.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q31.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q31.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q31.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q31.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_251009 Label: Maternal uniparental disomy of chromosome 1 - 'Maternal uniparental disomy of chromosome 1' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternal uniparental disomy of chromosome 1' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 1' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Maternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98658 Label: Color-vision disease - 'Color-vision disease' SubClassOf 'group of disorders' + 'Color-vision disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98657 Label: Genetic vitreous-retinal disease - 'Genetic vitreous-retinal disease' SubClassOf 'group of disorders' + 'Genetic vitreous-retinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314894 Label: vesicle-associated membrane protein 1 (synaptobrevin 1) - 'vesicle-associated membrane protein 1 (synaptobrevin 1)' SubClassOf 'gene' - 'vesicle-associated membrane protein 1 (synaptobrevin 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic ataxia type 1' + 'vesicle-associated membrane protein 1 (synaptobrevin 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vesicle-associated membrane protein 1 (synaptobrevin 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p"^^http://www.w3.org/2001/XMLSchema#string + 'vesicle-associated membrane protein 1 (synaptobrevin 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic ataxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_329813 Label: Mosaic genome-wide paternal uniparental disomy - 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'part_of' some 'Autosomal uniparental disomy' - 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'malformation syndrome' + 'Mosaic genome-wide paternal uniparental disomy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal uniparental disomy' + 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_117602 Label: PHD finger protein 6 - 'PHD finger protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Borjeson-Forssman-Lehmann syndrome' - 'PHD finger protein 6' SubClassOf 'gene' + 'PHD finger protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PHD finger protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string + 'PHD finger protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Borjeson-Forssman-Lehmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294456 Label: transient receptor potential cation channel, subfamily V, member 3 - 'transient receptor potential cation channel, subfamily V, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' - 'transient receptor potential cation channel, subfamily V, member 3' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily V, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' + 'transient receptor potential cation channel, subfamily V, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily V, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117605 Label: septin 9 - 'septin 9' SubClassOf 'gene' - 'septin 9' SubClassOf 'Major susceptibility factor in' some 'Neuralgic amyotrophy' + 'septin 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'septin 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'septin 9' SubClassOf 'Major susceptibility factor in' some 'Neuralgic amyotrophy' Class: http://www.orpha.net/ORDO/Orphanet_360362 Label: complement component 1, r subcomponent - 'complement component 1, r subcomponent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 1, r subcomponent' SubClassOf 'gene' + 'complement component 1, r subcomponent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 1, r subcomponent' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 1, r subcomponent' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98670 Label: Vitreoretinal degeneration - 'Vitreoretinal degeneration' SubClassOf 'group of disorders' + 'Vitreoretinal degeneration' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3115 Label: Roussy-L�vy syndrome - 'Roussy-L�vy syndrome' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' - 'Roussy-L�vy syndrome' SubClassOf 'disease' + 'Roussy-L�vy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Roussy-L�vy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98677 Label: Autosomal recessive syndromic optic atrophy - 'Autosomal recessive syndromic optic atrophy' SubClassOf 'group of disorders' + 'Autosomal recessive syndromic optic atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98678 Label: X-linked recessive optic atrophy - 'X-linked recessive optic atrophy' SubClassOf 'group of disorders' + 'X-linked recessive optic atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98675 Label: Autosomal recessive optic atrophy - 'Autosomal recessive optic atrophy' SubClassOf 'group of disorders' + 'Autosomal recessive optic atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98676 Label: Autosomal recessive isolated optic atrophy - 'Autosomal recessive isolated optic atrophy' SubClassOf 'group of disorders' + 'Autosomal recessive isolated optic atrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98673 Label: Autosomal dominant optic atrophy, classic type - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'disease' - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant optic atrophy, classic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy, classic type' SubClassOf 'disease' + 'Autosomal dominant optic atrophy, classic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant optic atrophy, classic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_3110 Label: Rombo syndrome - 'Rombo syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rombo syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rombo syndrome' SubClassOf 'disease' - 'Rombo syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Rombo syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' + 'Rombo syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Rombo syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Rombo syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rombo syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Rombo syndrome' SubClassOf 'disease' + 'Rombo syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_230845 Label: Ehlers-Danlos syndrome, vascular-like type - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'part_of' some 'Rare genetic vascular disease' - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic vascular disease' + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3111 Label: Rotor syndrome - 'Rotor syndrome' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Rotor syndrome' SubClassOf 'disease' - 'Rotor syndrome' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' - 'Rotor syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rotor syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rotor syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Rotor syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rotor syndrome' SubClassOf 'disease' + 'Rotor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Rotor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rotor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rotor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' Class: http://www.orpha.net/ORDO/Orphanet_251004 Label: Paternal uniparental disomy of chromosome 1 - 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Paternal uniparental disomy of chromosome 1' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Paternal uniparental disomy of chromosome 1' SubClassOf 'malformation syndrome' - 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paternal uniparental disomy of chromosome 1' SubClassOf 'malformation syndrome' + 'Paternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' + 'Paternal uniparental disomy of chromosome 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_98671 Label: Optic neuropathy - 'Optic neuropathy' SubClassOf 'group of disorders' + 'Optic neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98672 Label: Autosomal dominant optic atrophy - 'Autosomal dominant optic atrophy' SubClassOf 'group of disorders' + 'Autosomal dominant optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant optic atrophy' SubClassOf 'group of disorders' + 'Autosomal dominant optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "83.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_230851 Label: Ehlers-Danlos syndrome, cardiac valvular type - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98669 Label: Congenital vitreoretinal dysplasia - 'Congenital vitreoretinal dysplasia' SubClassOf 'group of disorders' + 'Congenital vitreoretinal dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98668 Label: Vitreoretinopathy - 'Vitreoretinopathy' SubClassOf 'group of disorders' + 'Vitreoretinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314889 Label: Autosomal dominant proximal renal tubular acidosis - 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'part_of' some 'Proximal renal tubular acidosis' - 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'clinical subtype' - 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal renal tubular acidosis' + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'clinical subtype' + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_292321 Label: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa - 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_403310 Label: ADP-ribosylation factor-like 6 interacting protein 1 - 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf 'gene' - 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 61' + 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 61' + 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12-p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98681 Label: Rare strabismus and restriction syndrome - 'Rare strabismus and restriction syndrome' SubClassOf 'group of disorders' + 'Rare strabismus and restriction syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98682 Label: Essential strabismus - 'Essential strabismus' SubClassOf 'part_of' some 'Rare strabismus and restriction syndrome' - 'Essential strabismus' SubClassOf 'disease' + 'Essential strabismus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare strabismus and restriction syndrome' + 'Essential strabismus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251038 Label: 3q29 microduplication - '3q29 microduplication' SubClassOf 'malformation syndrome' - '3q29 microduplication' SubClassOf 'has_prevalence' some 'Unknown' - '3q29 microduplication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3q29 microduplication' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 3' - '3q29 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - '3q29 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + '3q29 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 3' + '3q29 microduplication' SubClassOf 'malformation syndrome' + '3q29 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '3q29 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '3q29 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3q29 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98683 Label: Syndrome with a symptomatic strabismus - 'Syndrome with a symptomatic strabismus' SubClassOf 'group of disorders' + 'Syndrome with a symptomatic strabismus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98684 Label: Craniostenosis associated with a strabismus - 'Craniostenosis associated with a strabismus' SubClassOf 'group of disorders' + 'Craniostenosis associated with a strabismus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_260361 Label: tectonic family member 2 - 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'tectonic family member 2' SubClassOf 'gene' - 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'tectonic family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'tectonic family member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98685 Label: Oculomotor palsy - 'Oculomotor palsy' SubClassOf 'group of disorders' + 'Oculomotor palsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98686 Label: Congenital trochlear nerve palsy - 'Congenital trochlear nerve palsy' SubClassOf 'group of disorders' + 'Congenital trochlear nerve palsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98687 Label: Supranuclear oculomotor palsy - 'Supranuclear oculomotor palsy' SubClassOf 'group of disorders' + 'Supranuclear oculomotor palsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_230839 Label: Ehlers-Danlos syndrome due to tenascin-X deficiency - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'part_of' some 'Rare systemic disease' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'disease' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'disease' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98688 Label: Oculomotor apraxia or related oculomotor disease - 'Oculomotor apraxia or related oculomotor disease' SubClassOf 'group of disorders' + 'Oculomotor apraxia or related oculomotor disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98689 Label: Myopathy with eye involvement - 'Myopathy with eye involvement' SubClassOf 'group of disorders' + 'Myopathy with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_260358 Label: tetratricopeptide repeat domain 19 - 'tetratricopeptide repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'tetratricopeptide repeat domain 19' SubClassOf 'gene' + 'tetratricopeptide repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetratricopeptide repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_117620 Label: ATP-binding cassette, sub-family A (ABC1), member 12 - 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'gene' - 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Harlequin ichthyosis' - 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Harlequin ichthyosis' + 'ATP-binding cassette, sub-family A (ABC1), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' Class: http://www.orpha.net/ORDO/Orphanet_117623 Label: ATP-binding cassette, sub-family A (ABC1), member 4 - 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' - 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'gene' - 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' + 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221083 Label: Clonic hemifacial spasm - 'Clonic hemifacial spasm' SubClassOf 'disease' - 'Clonic hemifacial spasm' SubClassOf 'part_of' some 'Acquired peripheral movement disorder' + 'Clonic hemifacial spasm' SubClassOf 'disease' + 'Clonic hemifacial spasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_98691 Label: Abnormal eye movements - 'Abnormal eye movements' SubClassOf 'group of disorders' + 'Abnormal eye movements' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156731 Label: Dyssegmental dysplasia, Rolland-Desbuquois type - 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'disease' - 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98692 Label: Nervous system anomaly with eye involvement - 'Nervous system anomaly with eye involvement' SubClassOf 'group of disorders' + 'Nervous system anomaly with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98690 Label: Myasthenic syndrome with eye involvement - 'Myasthenic syndrome with eye involvement' SubClassOf 'group of disorders' + 'Myasthenic syndrome with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98695 Label: Mitochondrial disease with eye involvement - 'Mitochondrial disease with eye involvement' SubClassOf 'group of disorders' + 'Mitochondrial disease with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98696 Label: Genodermatosis with ocular features - 'Genodermatosis with ocular features' SubClassOf 'group of disorders' + 'Genodermatosis with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98693 Label: Spinocerebellar ataxia with oculomotor anomaly - 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'group of disorders' + 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98694 Label: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly - 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'group of disorders' + 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221091 Label: Trigeminal neuralgia - 'Trigeminal neuralgia' SubClassOf 'part_of' some 'Cranial neuralgia' - 'Trigeminal neuralgia' SubClassOf 'disease' + 'Trigeminal neuralgia' SubClassOf 'disease' + 'Trigeminal neuralgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial neuralgia' Class: http://www.orpha.net/ORDO/Orphanet_251028 Label: 2q33.1 microdeletion syndrome - '2q33.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q33.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q33.1 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '2q33.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q33.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '2q33.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + '2q33.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q33.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q33.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q33.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q33.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_260351 Label: tetratricopeptide repeat domain 21B - 'tetratricopeptide repeat domain 21B' SubClassOf 'gene' - 'tetratricopeptide repeat domain 21B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'tetratricopeptide repeat domain 21B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'tetratricopeptide repeat domain 21B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'tetratricopeptide repeat domain 21B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat domain 21B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'tetratricopeptide repeat domain 21B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98699 Label: Syndromic ichthyosis associated with ocular features - 'Syndromic ichthyosis associated with ocular features' SubClassOf 'group of disorders' + 'Syndromic ichthyosis associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98697 Label: Genetic keratinization disorder associated with ocular features - 'Genetic keratinization disorder associated with ocular features' SubClassOf 'group of disorders' + 'Genetic keratinization disorder associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98698 Label: Ichthyosis associated with ocular features - 'Ichthyosis associated with ocular features' SubClassOf 'group of disorders' + 'Ichthyosis associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329802 Label: 5p13 microduplication syndrome - '5p13 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '5p13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '5p13 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '5p13 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '5p13 microduplication syndrome' SubClassOf 'malformation syndrome' - '5p13 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '5p13 microduplication syndrome' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' + '5p13 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '5p13 microduplication syndrome' SubClassOf 'malformation syndrome' + '5p13 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '5p13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '5p13 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '5p13 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_221098 Label: Glossopharyngeal neuralgia - 'Glossopharyngeal neuralgia' SubClassOf 'part_of' some 'Cranial neuralgia' - 'Glossopharyngeal neuralgia' SubClassOf 'disease' + 'Glossopharyngeal neuralgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial neuralgia' + 'Glossopharyngeal neuralgia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_248401 Label: Rare thrombotic disorder due to a constitutional platelet anomaly - 'Rare thrombotic disorder due to a constitutional platelet anomaly' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to a constitutional platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251019 Label: 2q32q33 microdeletion syndrome - '2q32q33 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q32q33 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q32q33 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q32q33 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q32q33 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '2q32q33 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q32q33 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q32q33 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q32q33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + '2q32q33 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q32q33 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q32q33 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_353699 Label: SLIT and NTRK-like family, member 6 - 'SLIT and NTRK-like family, member 6' SubClassOf 'gene' - 'SLIT and NTRK-like family, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'High myopia-sensorineural deafness syndrome' - 'SLIT and NTRK-like family, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'SLIT and NTRK-like family, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'SLIT and NTRK-like family, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'High myopia-sensorineural deafness syndrome' + 'SLIT and NTRK-like family, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'SLIT and NTRK-like family, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_248408 Label: Familial hypodysfibrinogenemia - 'Familial hypodysfibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial hypodysfibrinogenemia' SubClassOf 'clinical subtype' + 'Familial hypodysfibrinogenemia' SubClassOf 'clinical subtype' + 'Familial hypodysfibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_117613 Label: achalasia, adrenocortical insufficiency, alacrimia - 'achalasia, adrenocortical insufficiency, alacrimia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triple A syndrome' - 'achalasia, adrenocortical insufficiency, alacrimia' SubClassOf 'gene' + 'achalasia, adrenocortical insufficiency, alacrimia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'achalasia, adrenocortical insufficiency, alacrimia' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'achalasia, adrenocortical insufficiency, alacrimia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triple A syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156728 Label: Spondyloepimetaphyseal dysplasia, matrilin-3 type - 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_248404 Label: Rare thrombotic disorder due to an acquired platelet anomaly - 'Rare thrombotic disorder due to an acquired platelet anomaly' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to an acquired platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117617 Label: 4-aminobutyrate aminotransferase - '4-aminobutyrate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-aminobutyric acid transaminase deficiency' - '4-aminobutyrate aminotransferase' SubClassOf 'gene' + '4-aminobutyrate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-aminobutyric acid transaminase deficiency' + '4-aminobutyrate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '4-aminobutyrate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251056 Label: 6q25 microdeletion syndrome - '6q25 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6q25 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 6' - '6q25 microdeletion syndrome' SubClassOf 'malformation syndrome' - '6q25 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '6q25 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '6q25 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '6q25 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6q25 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '6q25 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 6' + '6q25 microdeletion syndrome' SubClassOf 'malformation syndrome' + '6q25 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_117646 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 7 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 7' SubClassOf 'gene' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked sideroblastic anemia with ataxia' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family B (MDR/TAP), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked sideroblastic anemia with ataxia' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221061 Label: Hereditary cerebral cavernous malformation - 'Hereditary cerebral cavernous malformation' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hereditary cerebral cavernous malformation' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Hereditary cerebral cavernous malformation' SubClassOf 'part_of' some 'Capillary malformation' - 'Hereditary cerebral cavernous malformation' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'Hereditary cerebral cavernous malformation' SubClassOf 'malformation syndrome' - 'Hereditary cerebral cavernous malformation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary cerebral cavernous malformation' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Hereditary cerebral cavernous malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'Hereditary cerebral cavernous malformation' SubClassOf 'malformation syndrome' + 'Hereditary cerebral cavernous malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Hereditary cerebral cavernous malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary cerebral cavernous malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_100642 Label: Gonorrhea - 'Gonorrhea' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_251043 Label: Ring chromosome 5 - 'Ring chromosome 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring chromosome 5' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 5' SubClassOf 'has_prevalence' some 'Unknown' - 'Ring chromosome 5' SubClassOf 'malformation syndrome' - 'Ring chromosome 5' SubClassOf 'has_inheritance' some 'sporadic' + 'Ring chromosome 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ring chromosome 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring chromosome 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 5' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251046 Label: 6p22 microdeletion syndrome - '6p22 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6p22 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '6p22 microdeletion syndrome' SubClassOf 'malformation syndrome' - '6p22 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '6p22 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 6' + '6p22 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '6p22 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 6' + '6p22 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '6p22 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '6p22 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '6p22 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6p22 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_274023 Label: dicarbonyl/L-xylulose reductase - 'dicarbonyl/L-xylulose reductase' SubClassOf 'gene' - 'dicarbonyl/L-xylulose reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pentosuria' + 'dicarbonyl/L-xylulose reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'dicarbonyl/L-xylulose reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dicarbonyl/L-xylulose reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pentosuria' Class: http://www.orpha.net/ORDO/Orphanet_294415 Label: Renal-hepatic-pancreatic dysplasia - 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'malformation syndrome' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_252455 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_39044 Label: Uveal melanoma - 'Uveal melanoma' SubClassOf 'disease' - 'Uveal melanoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Uveal melanoma' SubClassOf 'part_of' some 'Rare eye tumor' + 'Uveal melanoma' SubClassOf 'disease' + 'Uveal melanoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Uveal melanoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye tumor' + 'Uveal melanoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Uveal melanoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_252458 Label: prenyl (decaprenyl) diphosphate synthase, subunit 1 - 'prenyl (decaprenyl) diphosphate synthase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness - encephaloneuropathy - obesity - valvulopathy' - 'prenyl (decaprenyl) diphosphate synthase, subunit 1' SubClassOf 'gene' + 'prenyl (decaprenyl) diphosphate synthase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prenyl (decaprenyl) diphosphate synthase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness - encephaloneuropathy - obesity - valvulopathy' + 'prenyl (decaprenyl) diphosphate synthase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117639 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 4 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'gene' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 3' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Low phospholipid associated cholelithiasis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Low phospholipid associated cholelithiasis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 3' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_39041 Label: Omenn syndrome - 'Omenn syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Omenn syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Omenn syndrome' SubClassOf 'disease' - 'Omenn syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Omenn syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Omenn syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Omenn syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Omenn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Omenn syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Omenn syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Omenn syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_294422 Label: Chronic intestinal failure - 'Chronic intestinal failure' SubClassOf 'clinical syndrome' - 'Chronic intestinal failure' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Chronic intestinal failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "86.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic intestinal failure' SubClassOf 'clinical syndrome' + 'Chronic intestinal failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_117631 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 11 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign recurrent intrahepatic cholestasis type 2' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'gene' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign recurrent intrahepatic cholestasis type 2' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' Class: http://www.orpha.net/ORDO/Orphanet_221074 Label: Marchiafava-Bignami disease - 'Marchiafava-Bignami disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Marchiafava-Bignami disease' SubClassOf 'disease' + 'Marchiafava-Bignami disease' SubClassOf 'disease' + 'Marchiafava-Bignami disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_118766 Label: solute carrier family 19 (thiamine transporter), member 3 - 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotin-responsive basal ganglia disease' - 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'gene' - 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' - 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive encephalopathy' + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotin-responsive basal ganglia disease' + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive encephalopathy' + 'solute carrier family 19 (thiamine transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221078 Label: Combined hyperactive dysfunction syndrome of the cranial nerves - 'Combined hyperactive dysfunction syndrome of the cranial nerves' SubClassOf 'disease' - 'Combined hyperactive dysfunction syndrome of the cranial nerves' SubClassOf 'part_of' some 'Cranial neuralgia' + 'Combined hyperactive dysfunction syndrome of the cranial nerves' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial neuralgia' + 'Combined hyperactive dysfunction syndrome of the cranial nerves' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118762 Label: solute carrier family 19 (thiamine transporter), member 2 - 'solute carrier family 19 (thiamine transporter), member 2' SubClassOf 'gene' - 'solute carrier family 19 (thiamine transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive megaloblastic anemia syndrome' + 'solute carrier family 19 (thiamine transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive megaloblastic anemia syndrome' + 'solute carrier family 19 (thiamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 19 (thiamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_318860 Label: GATA zinc finger domain containing 2B - 'GATA zinc finger domain containing 2B' SubClassOf 'gene' - 'GATA zinc finger domain containing 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' + 'GATA zinc finger domain containing 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA zinc finger domain containing 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'GATA zinc finger domain containing 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251076 Label: 8p23.1 microduplication syndrome - '8p23.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '8p23.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8p23.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '8p23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8p23.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 8' + '8p23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8p23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 8' + '8p23.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '8p23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8p23.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.72"^^http://www.w3.org/2001/XMLSchema#string) + '8p23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8p23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_251071 Label: 8p23.1 microdeletion syndrome - '8p23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8p23.1 microdeletion syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - '8p23.1 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '8p23.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 8' - '8p23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '8p23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '8p23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8p23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8p23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8p23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '8p23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8p23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '8p23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_221046 Label: Poikiloderma with neutropenia - 'Poikiloderma with neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Poikiloderma with neutropenia' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Poikiloderma with neutropenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Poikiloderma with neutropenia' SubClassOf 'part_of' some 'Hereditary poikiloderma' - 'Poikiloderma with neutropenia' SubClassOf 'disease' + 'Poikiloderma with neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Poikiloderma with neutropenia' SubClassOf 'disease' + 'Poikiloderma with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' + 'Poikiloderma with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Poikiloderma with neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_199310 Label: Tetragametic chimerism - 'Tetragametic chimerism' SubClassOf 'has_inheritance' some 'sporadic' - 'Tetragametic chimerism' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - 'Tetragametic chimerism' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Tetragametic chimerism' SubClassOf 'part_of' some 'X and Y chromosomal anomaly' - 'Tetragametic chimerism' SubClassOf 'malformation syndrome' - 'Tetragametic chimerism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X and Y chromosomal anomaly' + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Tetragametic chimerism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tetragametic chimerism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tetragametic chimerism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + 'Tetragametic chimerism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tetragametic chimerism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118794 Label: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 - 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive demyelinating neuropathy with bilateral striatal necrosis' - 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish lethal microcephaly' - 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf 'gene' + 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive demyelinating neuropathy with bilateral striatal necrosis' + 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish lethal microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_221043 Label: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'disease' - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' - 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'part_of' some 'Hereditary poikiloderma' + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'disease' + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_52047 Label: Braddock syndrome - 'Braddock syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Braddock syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Braddock syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Braddock syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Braddock syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' - 'Braddock syndrome' SubClassOf 'malformation syndrome' - 'Braddock syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Braddock syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Braddock syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Braddock syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Braddock syndrome' SubClassOf 'malformation syndrome' + 'Braddock syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with pulmonary hypertension as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_318865 Label: TANK-binding kinase 1 - 'TANK-binding kinase 1' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' - 'TANK-binding kinase 1' SubClassOf 'gene' + 'TANK-binding kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'TANK-binding kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TANK-binding kinase 1' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_118799 Label: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 - 'solute carrier family 25 (carnitine/acylcarnitine translocase), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine-acylcarnitine translocase deficiency' - 'solute carrier family 25 (carnitine/acylcarnitine translocase), member 20' SubClassOf 'gene' + 'solute carrier family 25 (carnitine/acylcarnitine translocase), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (carnitine/acylcarnitine translocase), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (carnitine/acylcarnitine translocase), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carnitine-acylcarnitine translocase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_117665 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 8 - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'DEND syndrome' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'gene' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'DEND syndrome' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_199315 Label: Familial clubfoot with or without associated lower limb anomalies - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'malformation syndrome' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some 'Dysostosis of genetic origin with limb anomaly as a major feature' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some 'Dysostosis with limb anomaly as a major feature' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'malformation syndrome' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with limb anomaly as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_199318 Label: 15q13.3 microdeletion syndrome - '15q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '15q13.3 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '15q13.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '15q13.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '15q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - '15q13.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '15q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '15q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - '15q13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + '15q13.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q13.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q13.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_251066 Label: 8p11.2 deletion syndrome - '8p11.2 deletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8p11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8p11.2 deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8p11.2 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 8' - '8p11.2 deletion syndrome' SubClassOf 'malformation syndrome' + '8p11.2 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8p11.2 deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8p11.2 deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8p11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 8' + '8p11.2 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8p11.2 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8p11.2 deletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118781 Label: solute carrier family 22 (organic cation/carnitine transporter), member 5 - 'solute carrier family 22 (organic cation/carnitine transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Systemic primary carnitine deficiency' - 'solute carrier family 22 (organic cation/carnitine transporter), member 5' SubClassOf 'gene' + 'solute carrier family 22 (organic cation/carnitine transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Systemic primary carnitine deficiency' + 'solute carrier family 22 (organic cation/carnitine transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 22 (organic cation/carnitine transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251061 Label: 7q31 microdeletion syndrome - '7q31 microdeletion syndrome' SubClassOf 'malformation syndrome' - '7q31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '7q31 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 7' - '7q31 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '7q31 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '7q31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 7' + '7q31 microdeletion syndrome' SubClassOf 'malformation syndrome' + '7q31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '7q31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '7q31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '7q31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '7q31 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117658 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 6 - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized arterial calcification of infancy' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoxanthoma elasticum' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf 'gene' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized arterial calcification of infancy' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoxanthoma elasticum' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_314822 Label: Primary renal tubular acidosis - 'Primary renal tubular acidosis' SubClassOf 'group of disorders' + 'Primary renal tubular acidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199323 Label: Endophthalmitis - 'Endophthalmitis' SubClassOf 'disease' - 'Endophthalmitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' + 'Endophthalmitis' SubClassOf 'disease' + 'Endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' Class: http://www.orpha.net/ORDO/Orphanet_221054 Label: Acrocephalopolydactyly - 'Acrocephalopolydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrocephalopolydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrocephalopolydactyly' SubClassOf 'malformation syndrome' - 'Acrocephalopolydactyly' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Acrocephalopolydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrocephalopolydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acrocephalopolydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Acrocephalopolydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acrocephalopolydactyly' SubClassOf 'malformation syndrome' + 'Acrocephalopolydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocephalopolydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_117652 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 2' SubClassOf 'gene' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubin-Johnson syndrome' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubin-Johnson syndrome' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_52054 Label: Craniosynostosis - intracranial calcifications - 'Craniosynostosis - intracranial calcifications' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - intracranial calcifications' SubClassOf 'malformation syndrome' - 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniosynostosis - intracranial calcifications' SubClassOf 'malformation syndrome' + 'Craniosynostosis - intracranial calcifications' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis - intracranial calcifications' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - intracranial calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118786 Label: solute carrier family 25 (aspartate/glutamate carrier), member 13 - 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf 'gene' - 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal intrahepatic cholestasis due to citrin deficiency' - 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Citrullinemia type II' + 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal intrahepatic cholestasis due to citrin deficiency' + 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (aspartate/glutamate carrier), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Citrullinemia type II' Class: http://www.orpha.net/ORDO/Orphanet_52055 Label: Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'malformation syndrome' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'malformation syndrome' + 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_118789 Label: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 - 'solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' SubClassOf 'gene' - 'solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperornithinemia-hyperammonemia-homocitrullinuria' + 'solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperornithinemia-hyperammonemia-homocitrullinuria' Class: http://www.orpha.net/ORDO/Orphanet_52056 Label: Ulnar/fibula ray defect - brachydactyly - 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'malformation syndrome' - 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'malformation syndrome' + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Ulnar/fibula ray defect - brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_199326 Label: Isolated autosomal dominant hypomagnesemia, Glaudemans type - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'disease' - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with normocalcuria' - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'disease' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with normocalcuria' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79273 Label: Hereditary coproporphyria - 'Hereditary coproporphyria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary coproporphyria' SubClassOf 'disease' - 'Hereditary coproporphyria' SubClassOf 'part_of' some 'Acute hepatic porphyria' - 'Hereditary coproporphyria' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hereditary coproporphyria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hereditary coproporphyria' SubClassOf 'disease' + 'Hereditary coproporphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute hepatic porphyria' + 'Hereditary coproporphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hereditary coproporphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary coproporphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary coproporphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_48652 Label: Monosomy 22q13 - 'Monosomy 22q13' SubClassOf 'has_prevalence' some 'Unknown' - 'Monosomy 22q13' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Monosomy 22q13' SubClassOf 'malformation syndrome' - 'Monosomy 22q13' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 22q13' SubClassOf 'has_inheritance' some 'sporadic' - 'Monosomy 22q13' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 22' + 'Monosomy 22q13' SubClassOf 'malformation syndrome' + 'Monosomy 22q13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 22' + 'Monosomy 22q13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 22q13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Monosomy 22q13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Monosomy 22q13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Monosomy 22q13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79272 Label: Sanfilippo syndrome type D - 'Sanfilippo syndrome type D' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sanfilippo syndrome type D' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 3' - 'Sanfilippo syndrome type D' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanfilippo syndrome type D' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118732 Label: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 - 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2' SubClassOf 'gene' - 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcytic anemia with liver iron overload' + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcytic anemia with liver iron overload' + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79271 Label: Sanfilippo syndrome type C - 'Sanfilippo syndrome type C' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sanfilippo syndrome type C' SubClassOf 'etiological subtype' - 'Sanfilippo syndrome type C' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanfilippo syndrome type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type C' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type C' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_284979 Label: Neonatal Marfan syndrome - 'Neonatal Marfan syndrome' SubClassOf 'disease' - 'Neonatal Marfan syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Neonatal Marfan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal Marfan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neonatal Marfan syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Neonatal Marfan syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Neonatal Marfan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal Marfan syndrome' SubClassOf 'disease' + 'Neonatal Marfan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neonatal Marfan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Neonatal Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' Class: http://www.orpha.net/ORDO/Orphanet_117687 Label: abhydrolase domain containing 5 - 'abhydrolase domain containing 5' SubClassOf 'gene' - 'abhydrolase domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dorfman-Chanarin disease' + 'abhydrolase domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'abhydrolase domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.33"^^http://www.w3.org/2001/XMLSchema#string + 'abhydrolase domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dorfman-Chanarin disease' Class: http://www.orpha.net/ORDO/Orphanet_206594 Label: Subacute inflammatory demyelinating polyneuropathy - 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf 'disease' - 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf 'part_of' some 'Acute and subacute inflammatory demyelinating polyneuropathy' - 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf 'disease' + 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute and subacute inflammatory demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79270 Label: Sanfilippo syndrome type B - 'Sanfilippo syndrome type B' SubClassOf 'etiological subtype' - 'Sanfilippo syndrome type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sanfilippo syndrome type B' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 3' - 'Sanfilippo syndrome type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sanfilippo syndrome type B' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sanfilippo syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sanfilippo syndrome type B' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.42"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sanfilippo syndrome type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanfilippo syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_52022 Label: Potocki-Shaffer syndrome - 'Potocki-Shaffer syndrome' SubClassOf 'malformation syndrome' - 'Potocki-Shaffer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Potocki-Shaffer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Potocki-Shaffer syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 11' - 'Potocki-Shaffer syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Potocki-Shaffer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Potocki-Shaffer syndrome' SubClassOf 'malformation syndrome' + 'Potocki-Shaffer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 11' + 'Potocki-Shaffer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Potocki-Shaffer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Potocki-Shaffer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79277 Label: Congenital erythropoietic porphyria - 'Congenital erythropoietic porphyria' SubClassOf 'disease' - 'Congenital erythropoietic porphyria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital erythropoietic porphyria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Congenital erythropoietic porphyria' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to an enzyme disorder' - 'Congenital erythropoietic porphyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital erythropoietic porphyria' SubClassOf 'part_of' some 'Porphyria' + 'Congenital erythropoietic porphyria' SubClassOf 'disease' + 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia due to an enzyme disorder' + 'Congenital erythropoietic porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital erythropoietic porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.065"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porphyria' + 'Congenital erythropoietic porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital erythropoietic porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_117685 Label: ATP-binding cassette, sub-family G (WHITE), member 8 - 'ATP-binding cassette, sub-family G (WHITE), member 8' SubClassOf 'Major susceptibility factor in' some 'Sitosterolemia' - 'ATP-binding cassette, sub-family G (WHITE), member 8' SubClassOf 'gene' + 'ATP-binding cassette, sub-family G (WHITE), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family G (WHITE), member 8' SubClassOf 'Major susceptibility factor in' some 'Sitosterolemia' + 'ATP-binding cassette, sub-family G (WHITE), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79276 Label: Acute intermittent porphyria - 'Acute intermittent porphyria' SubClassOf 'disease' - 'Acute intermittent porphyria' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Acute intermittent porphyria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute intermittent porphyria' SubClassOf 'part_of' some 'Nuclear oculomotor paralysis' - 'Acute intermittent porphyria' SubClassOf 'part_of' some 'Acute hepatic porphyria' - 'Acute intermittent porphyria' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.051"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.012"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nuclear oculomotor paralysis' + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.016"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.014"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.011"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf 'disease' + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute intermittent porphyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.013"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.013"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.59"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute hepatic porphyria' + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.99"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.018"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.022"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.014"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute intermittent porphyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.016"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_117683 Label: ATP-binding cassette, sub-family G (WHITE), member 5 - 'ATP-binding cassette, sub-family G (WHITE), member 5' SubClassOf 'gene' - 'ATP-binding cassette, sub-family G (WHITE), member 5' SubClassOf 'Major susceptibility factor in' some 'Sitosterolemia' + 'ATP-binding cassette, sub-family G (WHITE), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family G (WHITE), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family G (WHITE), member 5' SubClassOf 'Major susceptibility factor in' some 'Sitosterolemia' Class: http://www.orpha.net/ORDO/Orphanet_309347 Label: Disorder of protein N-glycosylation - 'Disorder of protein N-glycosylation' SubClassOf 'group of disorders' + 'Disorder of protein N-glycosylation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_310451 Label: coiled-coil domain containing 78 - 'coiled-coil domain containing 78' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy with internal nuclei and atypical cores' - 'coiled-coil domain containing 78' SubClassOf 'gene' + 'coiled-coil domain containing 78' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy with internal nuclei and atypical cores' + 'coiled-coil domain containing 78' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 78' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79279 Label: Alpha-N-acetylgalactosaminidase deficiency type 1 - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'part_of' some 'Alpha-N-acetylgalactosaminidase deficiency' - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'clinical subtype' - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-N-acetylgalactosaminidase deficiency' + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'has_AgeOfOnset' some 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(sodium/potassium/chloride transporter), member 1' SubClassOf 'gene' - 'solute carrier family 12 (sodium/potassium/chloride transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antenatal Bartter syndrome' + 'solute carrier family 12 (sodium/potassium/chloride transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15-q21"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 12 (sodium/potassium/chloride transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Antenatal Bartter syndrome' + 'solute carrier family 12 (sodium/potassium/chloride transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_124107 Label: pyruvate carboxylase - 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, benign type' - 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, severe neonatal type' - 'pyruvate carboxylase' SubClassOf 'gene' - 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, infantile type' + 'pyruvate carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4-q13.5"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, severe neonatal type' + 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, benign type' + 'pyruvate carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate carboxylase deficiency, infantile type' + 'pyruvate carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99792 Label: Dentin dysplasia - sclerotic bones - 'Dentin dysplasia - sclerotic bones' SubClassOf 'part_of' some 'Rare genetic odontologic disease' - 'Dentin dysplasia - sclerotic bones' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Dentin dysplasia - sclerotic bones' SubClassOf 'disease' + 'Dentin dysplasia - sclerotic bones' SubClassOf 'disease' + 'Dentin dysplasia - sclerotic bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic odontologic disease' + 'Dentin dysplasia - sclerotic bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_309340 Label: Disorder of lysosomal-related organelles - 'Disorder of lysosomal-related organelles' SubClassOf 'group of disorders' + 'Disorder of lysosomal-related organelles' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_208999 Label: Paraneoplastic sensory ganglionopathy - 'Paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' + 'Paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99791 Label: Dentin dysplasia type II - 'Dentin dysplasia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dentin dysplasia type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dentin dysplasia type II' SubClassOf 'part_of' some 'Dentin dysplasia' - 'Dentin dysplasia type II' SubClassOf 'disease' + 'Dentin dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentin dysplasia' + 'Dentin dysplasia type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dentin dysplasia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentin dysplasia type II' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124103 Label: paired box 8 - 'paired box 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' - 'paired box 8' SubClassOf 'gene' - 'paired box 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'paired box 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'paired box 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'paired box 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124105 Label: paired box 9 - 'paired box 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' - 'paired box 9' SubClassOf 'gene' + 'paired box 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oligodontia' + 'paired box 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99798 Label: Oligodontia - 'Oligodontia' SubClassOf 'morphological anomaly' - 'Oligodontia' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' - 'Oligodontia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Oligodontia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Oligodontia' SubClassOf 'has_prevalence' some 'Unknown' - 'Oligodontia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oligodontia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Oligodontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Oligodontia' SubClassOf 'morphological anomaly' + 'Oligodontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oligodontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oligodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Oligodontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_124100 Label: paired box 7 - 'paired box 7' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' - 'paired box 7' SubClassOf 'gene' + 'paired box 7' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' + 'paired box 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_206599 Label: Isolated asymptomatic elevation of creatine phosphokinase - 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'part_of' some 'Qualitative or quantitative defects of caveolin-3' - 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'biological anomaly' + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of caveolin-3' + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'biological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99797 Label: Anodontia - 'Anodontia' SubClassOf 'morphological anomaly' - 'Anodontia' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Anodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Anodontia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_284984 Label: Aneurysm - osteoarthritis syndrome - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'disease' - 'Aneurysm - osteoarthritis syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' + 'Aneurysm - osteoarthritis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aneurysm - osteoarthritis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Aneurysm - osteoarthritis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aneurysm - osteoarthritis syndrome' SubClassOf 'disease' + 'Aneurysm - osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Aneurysm - osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_99796 Label: Subcortical band heterotopia - 'Subcortical band heterotopia' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Subcortical band heterotopia' SubClassOf 'morphological anomaly' + 'Subcortical band heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Subcortical band heterotopia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_75110 Label: Myiasis - 'Myiasis' SubClassOf 'group of disorders' + 'Myiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79282 Label: Methylmalonic acidemia with homocystinuria, type cblC - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_prevalence' some 'Unknown' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'clinical subtype' - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79281 Label: Alpha-N-acetylgalactosaminidase deficiency type 3 - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'clinical subtype' - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'part_of' some 'Alpha-N-acetylgalactosaminidase deficiency' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-N-acetylgalactosaminidase deficiency' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_118723 Label: SIX homeobox 1 - 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' - 'SIX homeobox 1' SubClassOf 'gene' - 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-otic syndrome' + 'SIX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'BOR syndrome' + 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'SIX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Branchio-otic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79284 Label: Methylmalonic acidemia with homocystinuria type cblF - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'clinical subtype' - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'part_of' some 'Methylmalonic acidemia with homocystinuria' - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79283 Label: Methylmalonic acidemia with homocystinuria, type cblD - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'clinical subtype' - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'part_of' some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_117677 Label: ATP-binding cassette, sub-family D (ALD), member 1 - 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'gene' - 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Role in the phenotype of' some 'CADDS' - 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked cerebral adrenoleukodystrophy' - 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adrenomyeloneuropathy' + 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked cerebral adrenoleukodystrophy' + 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Role in the phenotype of' some 'CADDS' + 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family D (ALD), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adrenomyeloneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_247378 Label: Autosomal recessive secondary polycythemia not associated with VHL gene - 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'part_of' some 'Congenital secondary polycythemia' - 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'disease' + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital secondary polycythemia' + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'disease' + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_117673 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 9 - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromegaloid facial appearance syndrome' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'gene' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrichotic osteochondrodysplasia, Cantu type' - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_966 + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromegaloid facial appearance syndrome' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrichotic osteochondrodysplasia, Cantu type' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_309337 Label: Lysosomal glycogen storage disease - 'Lysosomal glycogen storage disease' SubClassOf 'group of disorders' + 'Lysosomal glycogen storage disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118728 Label: SIX homeobox 6 - 'SIX homeobox 6' SubClassOf 'gene' - 'SIX homeobox 6' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' - 'SIX homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' + 'SIX homeobox 6' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' + 'SIX homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SIX homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' + 'SIX homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118725 Label: SIX homeobox 3 - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'gene' - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'SIX homeobox 3' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'SIX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'SIX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'SIX homeobox 3' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_124119 Label: protocadherin-related 15 - 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'protocadherin-related 15' SubClassOf 'gene' + 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'protocadherin-related 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'protocadherin-related 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protocadherin-related 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_124117 Label: propionyl CoA carboxylase, beta polypeptide - 'propionyl CoA carboxylase, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Propionic acidemia' - 'propionyl CoA carboxylase, beta polypeptide' SubClassOf 'gene' + 'propionyl CoA carboxylase, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Propionic acidemia' + 'propionyl CoA carboxylase, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'propionyl CoA carboxylase, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309334 Label: Salla disease - 'Salla disease' SubClassOf 'clinical subtype' - 'Salla disease' SubClassOf 'part_of' some 'Free sialic acid storage disease' + 'Salla disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Free sialic acid storage disease' + 'Salla disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309331 Label: Intermediate severe Salla disease - 'Intermediate severe Salla disease' SubClassOf 'clinical subtype' - 'Intermediate severe Salla disease' SubClassOf 'part_of' some 'Free sialic acid storage disease' + 'Intermediate severe Salla disease' SubClassOf 'clinical subtype' + 'Intermediate severe Salla disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Free sialic acid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_124115 Label: propionyl CoA carboxylase, alpha polypeptide - 'propionyl CoA carboxylase, alpha polypeptide' SubClassOf 'gene' - 'propionyl CoA carboxylase, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Propionic acidemia' + 'propionyl CoA carboxylase, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32"^^http://www.w3.org/2001/XMLSchema#string + 'propionyl CoA carboxylase, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'propionyl CoA carboxylase, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Propionic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_263413 Label: Angiosarcoma - 'Angiosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Angiosarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Angiosarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Angiosarcoma' SubClassOf 'disease' - 'Angiosarcoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Angiosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angiosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Angiosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Angiosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Angiosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Angiosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Angiosarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284973 Label: Marfan syndrome type 2 - 'Marfan syndrome type 2' SubClassOf 'clinical subtype' - 'Marfan syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marfan syndrome type 2' SubClassOf 'part_of' some 'Marfan syndrome' - 'Marfan syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Marfan syndrome type 2' SubClassOf 'clinical subtype' + 'Marfan syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan syndrome' + 'Marfan syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Marfan syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_124110 Label: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha - 'pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydratase deficiency' - 'pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha' SubClassOf 'gene' + 'pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydratase deficiency' + 'pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_328770 Label: ubiquinol-cytochrome c reductase core protein II - 'ubiquinol-cytochrome c reductase core protein II' SubClassOf 'gene' - 'ubiquinol-cytochrome c reductase core protein II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase core protein II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquinol-cytochrome c reductase core protein II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'ubiquinol-cytochrome c reductase core protein II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_255182 Label: Pyruvate dehydrogenase E3-binding protein deficiency - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_263410 Label: Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'disease' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'disease' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_50809 Label: Talo-patello-scaphoid osteolysis - 'Talo-patello-scaphoid osteolysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Talo-patello-scaphoid osteolysis' SubClassOf 'part_of' some 'Primary osteolysis' - 'Talo-patello-scaphoid osteolysis' SubClassOf 'malformation syndrome' - 'Talo-patello-scaphoid osteolysis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Talo-patello-scaphoid osteolysis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Talo-patello-scaphoid osteolysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Talo-patello-scaphoid osteolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Talo-patello-scaphoid osteolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Talo-patello-scaphoid osteolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Talo-patello-scaphoid osteolysis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79280 Label: Alpha-N-acetylgalactosaminidase deficiency type 2 - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'part_of' some 'Alpha-N-acetylgalactosaminidase deficiency' - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'clinical subtype' - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-N-acetylgalactosaminidase deficiency' + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79299 Label: Hyperinsulinism due to glucokinase deficiency - 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'part_of' some 'Disorder of glycolysis' - 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycolysis' + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_79298 Label: Diazoxide-resistant focal hyperinsulinism - 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364667 Label: transmembrane protease, serine 4 - 'transmembrane protease, serine 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebral atrophy' - 'transmembrane protease, serine 4' SubClassOf 'gene' + 'transmembrane protease, serine 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebral atrophy' + 'transmembrane protease, serine 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protease, serine 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_328743 Label: spectrin repeat containing, nuclear envelope family member 4 - 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf 'gene' - 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_310433 Label: potassium inwardly-rectifying channel, subfamily J, member 18 - 'potassium inwardly-rectifying channel, subfamily J, member 18' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 18' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' + 'potassium inwardly-rectifying channel, subfamily J, member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 18' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' + 'potassium inwardly-rectifying channel, subfamily J, member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171695 Label: Parkinsonian-pyramidal syndrome - 'Parkinsonian-pyramidal syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Parkinsonian-pyramidal syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Parkinsonian-pyramidal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Parkinsonian-pyramidal syndrome' SubClassOf 'disease' - 'Parkinsonian-pyramidal syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Parkinsonian-pyramidal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Parkinsonian-pyramidal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Parkinsonian-pyramidal syndrome' SubClassOf 'disease' + 'Parkinsonian-pyramidal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_118753 Label: solute carrier family 17 (acidic sugar transporter), member 5 - 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'gene' - 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Free sialic acid storage disease, infantile form' - 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate severe Salla disease' - 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Salla disease' + 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Free sialic acid storage disease, infantile form' + 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate severe Salla disease' + 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 17 (acidic sugar transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Salla disease' Class: http://www.orpha.net/ORDO/Orphanet_171690 Label: Metabolic myopathy due to lactate transporter defect - 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'disease' - 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'part_of' some 'Metabolic myopathy' + 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'disease' + 'Metabolic myopathy due to lactate transporter defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_79293 Label: Familial LCAT deficiency - 'Familial LCAT deficiency' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Familial LCAT deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Familial LCAT deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial LCAT deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial LCAT deficiency' SubClassOf 'clinical subtype' - 'Familial LCAT deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial LCAT deficiency' SubClassOf 'part_of' some 'LCAT deficiency' + 'Familial LCAT deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Familial LCAT deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial LCAT deficiency' SubClassOf 'clinical subtype' + 'Familial LCAT deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial LCAT deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'LCAT deficiency' Class: http://www.orpha.net/ORDO/Orphanet_206572 Label: Overlap myositis - 'Overlap myositis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Overlap myositis' SubClassOf 'has_prevalence' some 'Unknown' - 'Overlap myositis' SubClassOf 'group of disorders' + 'Overlap myositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Overlap myositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Overlap myositis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79292 Label: Fish-eye disease - 'Fish-eye disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fish-eye disease' SubClassOf 'part_of' some 'LCAT deficiency' - 'Fish-eye disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Fish-eye disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fish-eye disease' SubClassOf 'clinical subtype' + 'Fish-eye disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'LCAT deficiency' + 'Fish-eye disease' SubClassOf 'clinical subtype' + 'Fish-eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Fish-eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fish-eye disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fish-eye disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_309324 Label: Free sialic acid storage disease, infantile form - 'Free sialic acid storage disease, infantile form' SubClassOf 'part_of' some 'Free sialic acid storage disease' - 'Free sialic acid storage disease, infantile form' SubClassOf 'clinical subtype' + 'Free sialic acid storage disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Free sialic acid storage disease' + 'Free sialic acid storage disease, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280679 Label: Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'disease' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'disease' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_280675 Label: choline kinase beta - 'choline kinase beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' - 'choline kinase beta' SubClassOf 'gene' + 'choline kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'choline kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'choline kinase beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_206575 Label: Rippling muscle disease with myasthenia gravis - 'Rippling muscle disease with myasthenia gravis' SubClassOf 'part_of' some 'Acquired neuromuscular junction disease' - 'Rippling muscle disease with myasthenia gravis' SubClassOf 'disease' + 'Rippling muscle disease with myasthenia gravis' SubClassOf 'disease' + 'Rippling muscle disease with myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neuromuscular junction disease' Class: http://www.orpha.net/ORDO/Orphanet_261494 Label: Kleefstra syndrome - 'Kleefstra syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kleefstra syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kleefstra syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kleefstra syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Kleefstra syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kleefstra syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Kleefstra syndrome' SubClassOf 'malformation syndrome' + 'Kleefstra syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kleefstra syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Kleefstra syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kleefstra syndrome' SubClassOf 'malformation syndrome' + 'Kleefstra syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284963 Label: Marfan syndrome type 1 - 'Marfan syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Marfan syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Marfan syndrome type 1' SubClassOf 'clinical subtype' - 'Marfan syndrome type 1' SubClassOf 'part_of' some 'Marfan syndrome' + 'Marfan syndrome type 1' SubClassOf 'clinical subtype' + 'Marfan syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan syndrome' + 'Marfan syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Marfan syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_118740 Label: solute carrier family 12 (sodium/chloride transporter), member 3 - 'solute carrier family 12 (sodium/chloride transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gitelman syndrome' - 'solute carrier family 12 (sodium/chloride transporter), member 3' SubClassOf 'gene' + 'solute carrier family 12 (sodium/chloride transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 12 (sodium/chloride transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 12 (sodium/chloride transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Gitelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101000 Label: Autosomal recessive spastic paraplegia type 20 - 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_227976 Label: Autosomal recessive optic atrophy, OPA7 type - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'disease' - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'part_of' some 'Autosomal recessive isolated optic atrophy' - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'disease' + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated optic atrophy' + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_248487 Label: high mobility group AT-hook 2 - 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' - 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' - 'high mobility group AT-hook 2' SubClassOf 'gene' - 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' + 'high mobility group AT-hook 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q15"^^http://www.w3.org/2001/XMLSchema#string + 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' + 'high mobility group AT-hook 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' + 'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_101001 Label: Autosomal recessive spastic paraplegia type 21 - 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_206583 Label: Adult polyglucosan body disease - 'Adult polyglucosan body disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult polyglucosan body disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult polyglucosan body disease' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Adult polyglucosan body disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Adult polyglucosan body disease' SubClassOf 'clinical subtype' - 'Adult polyglucosan body disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Adult polyglucosan body disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Adult polyglucosan body disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult polyglucosan body disease' SubClassOf 'clinical subtype' + 'Adult polyglucosan body disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult polyglucosan body disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Adult polyglucosan body disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_247353 Label: Generalized pustular psoriasis - 'Generalized pustular psoriasis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Generalized pustular psoriasis' SubClassOf 'disease' - 'Generalized pustular psoriasis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized pustular psoriasis' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Generalized pustular psoriasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Generalized pustular psoriasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Generalized pustular psoriasis' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Generalized pustular psoriasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Generalized pustular psoriasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Generalized pustular psoriasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized pustular psoriasis' SubClassOf 'disease' + 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Generalized pustular psoriasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Generalized pustular psoriasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_310425 Label: profilin 1 - 'profilin 1' SubClassOf 'gene' - 'profilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'profilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'profilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'profilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_118742 Label: solute carrier family 12 (potassium/chloride transporter), member 6 - 'solute carrier family 12 (potassium/chloride transporter), member 6' SubClassOf 'gene' - 'solute carrier family 12 (potassium/chloride transporter), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corpus callosum agenesis - neuronopathy' + 'solute carrier family 12 (potassium/chloride transporter), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 12 (potassium/chloride transporter), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 12 (potassium/chloride transporter), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corpus callosum agenesis - neuronopathy' Class: http://www.orpha.net/ORDO/Orphanet_206580 Label: Autosomal recessive lower motor neuron disease with childhood onset - 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'disease' - 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'part_of' some 'Generalized bulbospinal muscular atrophy' - 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'disease' + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized bulbospinal muscular atrophy' + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_101008 Label: Autosomal recessive spastic paraplegia type 28 - 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 28' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_309319 Label: Disorder of sialic acid metabolism - 'Disorder of sialic acid metabolism' SubClassOf 'group of disorders' + 'Disorder of sialic acid metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101007 Label: Autosomal recessive spastic paraplegia type 27 - 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 27' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 27' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_118746 Label: solute carrier family 16, member 2 (thyroid hormone transporter) - 'solute carrier family 16, member 2 (thyroid hormone transporter)' SubClassOf 'gene' - 'solute carrier family 16, member 2 (thyroid hormone transporter)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Allan-Herndon-Dudley syndrome' + 'solute carrier family 16, member 2 (thyroid hormone transporter)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 16, member 2 (thyroid hormone transporter)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 16, member 2 (thyroid hormone transporter)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Allan-Herndon-Dudley syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280671 Label: Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'disease' - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'disease' + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_101009 Label: Autosomal dominant spastic paraplegia type 29 - 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 29' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 29' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101004 Label: Autosomal recessive spastic paraplegia type 24 - 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 24' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 24' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_227972 Label: Toxic oil syndrome - 'Toxic oil syndrome' SubClassOf 'disease' - 'Toxic oil syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Toxic oil syndrome' SubClassOf 'part_of' some 'Rare intoxication' - 'Toxic oil syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Toxic oil syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Toxic oil syndrome' SubClassOf 'disease' + 'Toxic oil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic oil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_101003 Label: Autosomal recessive spastic paraplegia type 23 - 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 23' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 23' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101006 Label: Autosomal recessive spastic paraplegia type 26 - 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 26' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 26' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_101005 Label: Autosomal recessive spastic paraplegia type 25 - 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 25' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 25' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_280669 Label: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin - 'biogenesis of lysosomal organelles complex-1, subunit 6, pallidin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 9' - 'biogenesis of lysosomal organelles complex-1, subunit 6, pallidin' SubClassOf 'gene' + 'biogenesis of lysosomal organelles complex-1, subunit 6, pallidin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'biogenesis of lysosomal organelles complex-1, subunit 6, pallidin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 9' + 'biogenesis of lysosomal organelles complex-1, subunit 6, pallidin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_309310 Label: Mucopolysaccharidosis type 4B - 'Mucopolysaccharidosis type 4B' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 4' - 'Mucopolysaccharidosis type 4B' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 4B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 4' + 'Mucopolysaccharidosis type 4B' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280663 Label: Hermansky-Pudlak syndrome type 9 - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'clinical subtype' - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hermansky-Pudlak syndrome type 9' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 9' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hermansky-Pudlak syndrome type 9' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hermansky-Pudlak syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206586 Label: Neurolymphomatosis - 'Neurolymphomatosis' SubClassOf 'disease' - 'Neurolymphomatosis' SubClassOf 'part_of' some 'Malignant lymphoma with peripheral neuropathy' + 'Neurolymphomatosis' SubClassOf 'disease' + 'Neurolymphomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant lymphoma with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_261483 Label: Xq27.3q28 duplication syndrome - 'Xq27.3q28 duplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Xq27.3q28 duplication syndrome' SubClassOf 'malformation syndrome' - 'Xq27.3q28 duplication syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Xq27.3q28 duplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xq27.3q28 duplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X' + 'Xq27.3q28 duplication syndrome' SubClassOf 'malformation syndrome' + 'Xq27.3q28 duplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xq27.3q28 duplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Xq27.3q28 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Xq27.3q28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome X' + 'Xq27.3q28 duplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_248481 Label: histone deacetylase 6 - 'histone deacetylase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' - 'histone deacetylase 6' SubClassOf 'gene' + 'histone deacetylase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' + 'histone deacetylase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117691 Label: ABL proto-oncogene 1, non-receptor tyrosine kinase - 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'gene' - 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' - 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_79237 Label: Galactokinase deficiency - 'Galactokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Galactokinase deficiency' SubClassOf 'part_of' some 'Galactosemia' - 'Galactokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Galactokinase deficiency' SubClassOf 'disease' - 'Galactokinase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Galactokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Galactosemia' + 'Galactokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Galactokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Galactokinase deficiency' SubClassOf 'disease' + 'Galactokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79234 Label: Crigler-Najjar syndrome type 1 - 'Crigler-Najjar syndrome type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Crigler-Najjar syndrome type 1' SubClassOf 'clinical subtype' - 'Crigler-Najjar syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Crigler-Najjar syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Crigler-Najjar syndrome type 1' SubClassOf 'part_of' some 'Crigler-Najjar syndrome' + 'Crigler-Najjar syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Crigler-Najjar syndrome' + 'Crigler-Najjar syndrome type 1' SubClassOf 'clinical subtype' + 'Crigler-Najjar syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crigler-Najjar syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Crigler-Najjar syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79235 Label: Crigler-Najjar syndrome type 2 - 'Crigler-Najjar syndrome type 2' SubClassOf 'clinical subtype' - 'Crigler-Najjar syndrome type 2' SubClassOf 'part_of' some 'Crigler-Najjar syndrome' - 'Crigler-Najjar syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Crigler-Najjar syndrome type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Crigler-Najjar syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Crigler-Najjar syndrome type 2' SubClassOf 'clinical subtype' + 'Crigler-Najjar syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Crigler-Najjar syndrome' + 'Crigler-Najjar syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crigler-Najjar syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_227982 Label: Autoimmune polyendocrinopathy type 3 - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'part_of' some 'Rare adult hypothyroidism' - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'disease' - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'part_of' some 'Autoimmune polyendocrinopathy' - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autoimmune polyendocrinopathy type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autoimmune polyendocrinopathy type 3' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare adult hypothyroidism' + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 1' Class: http://www.orpha.net/ORDO/Orphanet_79238 Label: Galactose epimerase deficiency - 'Galactose epimerase deficiency' SubClassOf 'disease' - 'Galactose epimerase deficiency' SubClassOf 'part_of' some 'Galactosemia' - 'Galactose epimerase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Galactose epimerase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Galactose epimerase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Galactose epimerase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Galactose epimerase deficiency' SubClassOf 'disease' + 'Galactose epimerase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Galactosemia' + 'Galactose epimerase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79239 Label: Classic galactosemia - 'Classic galactosemia' SubClassOf 'part_of' some 'Galactosemia' - 'Classic galactosemia' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Classic galactosemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic galactosemia' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Classic galactosemia' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Classic galactosemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classic galactosemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Classic galactosemia' SubClassOf 'disease' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf 'disease' + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Galactosemia' + 'Classic galactosemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic galactosemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122857 Label: KISS1 receptor - 'KISS1 receptor' SubClassOf 'gene' - 'KISS1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'KISS1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'KISS1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KISS1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'KISS1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'KISS1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_260339 Label: origin recognition complex, subunit 6 - 'origin recognition complex, subunit 6' SubClassOf 'gene' - 'origin recognition complex, subunit 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' + 'origin recognition complex, subunit 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'origin recognition complex, subunit 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' + 'origin recognition complex, subunit 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79233 Label: Hypoxanthine guanine phosphoribosyltransferase partial deficiency - 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'part_of' some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' - 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'disease' - 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' + 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'disease' + 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_260335 Label: origin recognition complex, subunit 4 - 'origin recognition complex, subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' - 'origin recognition complex, subunit 4' SubClassOf 'gene' + 'origin recognition complex, subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'origin recognition complex, subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'origin recognition complex, subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99749 Label: Kostmann syndrome - 'Kostmann syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kostmann syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Kostmann syndrome' SubClassOf 'disease' - 'Kostmann syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kostmann syndrome' SubClassOf 'part_of' some 'Severe congenital neutropenia' + 'Kostmann syndrome' SubClassOf 'disease' + 'Kostmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kostmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kostmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe congenital neutropenia' + 'Kostmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79230 Label: Hemochromatosis type 2 - 'Hemochromatosis type 2' SubClassOf 'disease' - 'Hemochromatosis type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hemochromatosis type 2' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' - 'Hemochromatosis type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemochromatosis type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hemochromatosis type 2' SubClassOf 'disease' + 'Hemochromatosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemochromatosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemochromatosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemochromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_99748 Label: Pontiac fever - 'Pontiac fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Pontiac fever' SubClassOf 'clinical subtype' - 'Pontiac fever' SubClassOf 'part_of' some 'Legionellosis' - 'Pontiac fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pontiac fever' SubClassOf 'has_inheritance' some 'sporadic' + 'Pontiac fever' SubClassOf 'clinical subtype' + 'Pontiac fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Legionellosis' + 'Pontiac fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pontiac fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_261476 Label: Monosomy Xp21 - 'Monosomy Xp21' SubClassOf 'disease' - 'Monosomy Xp21' SubClassOf 'has_prevalence' some 'Unknown' - 'Monosomy Xp21' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome X' - 'Monosomy Xp21' SubClassOf 'part_of' some 'Glycerol kinase deficiency' + 'Monosomy Xp21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycerol kinase deficiency' + 'Monosomy Xp21' SubClassOf 'disease' + 'Monosomy Xp21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_99756 Label: Alveolar rhabdomyosarcoma - 'Alveolar rhabdomyosarcoma' SubClassOf 'part_of' some 'Rhabdomyosarcoma' - 'Alveolar rhabdomyosarcoma' SubClassOf 'clinical subtype' + 'Alveolar rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhabdomyosarcoma' + 'Alveolar rhabdomyosarcoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_240094 Label: Progressive supranuclear palsy - pure akinesia with gait freezing - 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'clinical subtype' - 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'clinical subtype' + 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_260345 Label: cell division cycle 6 - 'cell division cycle 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' - 'cell division cycle 6' SubClassOf 'gene' + 'cell division cycle 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'cell division cycle 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' + 'cell division cycle 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263440 Label: Neuroacanthocytosis - 'Neuroacanthocytosis' SubClassOf 'group of disorders' + 'Neuroacanthocytosis' SubClassOf 'group of disorders' + 'Neuroacanthocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2013 Label: Cleft palate - large ears - small head - 'Cleft palate - large ears - small head' SubClassOf 'malformation syndrome' - 'Cleft palate - large ears - small head' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Cleft palate - large ears - small head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Cleft palate - large ears - small head' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99750 Label: Atypical progressive supranuclear palsy - 'Atypical progressive supranuclear palsy' SubClassOf 'clinical subtype' - 'Atypical progressive supranuclear palsy' SubClassOf 'part_of' some 'Progressive supranuclear palsy' - 'Atypical progressive supranuclear palsy' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Atypical progressive supranuclear palsy' SubClassOf 'clinical subtype' + 'Atypical progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Atypical progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive supranuclear palsy' Class: http://www.orpha.net/ORDO/Orphanet_2010 Label: Cleft palate - stapes fixation - oligodontia - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'malformation syndrome' - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft palate - stapes fixation - oligodontia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cleft palate - stapes fixation - oligodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'malformation syndrome' + 'Cleft palate - stapes fixation - oligodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_260341 Label: chromatin licensing and DNA replication factor 1 - 'chromatin licensing and DNA replication factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' - 'chromatin licensing and DNA replication factor 1' SubClassOf 'gene' + 'chromatin licensing and DNA replication factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'chromatin licensing and DNA replication factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ear-patella-short stature syndrome' + 'chromatin licensing and DNA replication factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2016 Label: Cleft palate-lateral synechia syndrome - 'Cleft palate-lateral synechia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'malformation syndrome' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleft palate-lateral synechia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft palate-lateral synechia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft palate-lateral synechia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleft palate-lateral synechia syndrome' SubClassOf 'malformation syndrome' + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2017 Label: Sternal cleft - 'Sternal cleft' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sternal cleft' SubClassOf 'group of disorders' - 'Sternal cleft' SubClassOf 'has_inheritance' some 'sporadic' - 'Sternal cleft' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Sternal cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Sternal cleft' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sternal cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sternal cleft' SubClassOf 'group of disorders' + 'Sternal cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Sternal cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_280654 Label: Autosomal recessive nail dysplasia - 'Autosomal recessive nail dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive nail dysplasia' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Autosomal recessive nail dysplasia' SubClassOf 'disease' - 'Autosomal recessive nail dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive nail dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Autosomal recessive nail dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive nail dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive nail dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169802 Label: Severe hemophilia A - 'Severe hemophilia A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe hemophilia A' SubClassOf 'part_of' some 'Hemophilia A' - 'Severe hemophilia A' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Severe hemophilia A' SubClassOf 'clinical subtype' - 'Severe hemophilia A' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Severe hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe hemophilia A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe hemophilia A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia A' + 'Severe hemophilia A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2014 Label: Cleft palate - 'Cleft palate' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cleft palate' SubClassOf 'morphological anomaly' - 'Cleft palate' SubClassOf 'has_inheritance' some 'sporadic' - 'Cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleft palate' SubClassOf 'part_of' some 'Rare maxillo-facial surgical disease' - 'Cleft palate' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Cleft palate' SubClassOf 'part_of' some 'Rare head and neck malformation' + 'Cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 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(http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf 'morphological anomaly' + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410019) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "101.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleft palate' SubClassOf 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(http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "56.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2015 Label: Cleft palate - short stature - vertebral anomalies - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'malformation syndrome' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'malformation syndrome' + 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cleft palate - short stature - vertebral anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122862 Label: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Isolated bone marrow mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Plaque-form urticaria pigmentosa' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphoadenopathic mastocytosis with eosinophilia' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'gene' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoxanthomatous diffuse cutaneous mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Smouldering systemic mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical urticaria pigmentosa' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Aleukemic mast cell leukemia' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Telangiectasia macularis eruptiva perstans' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutaneous mastocytoma' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Classic mast cell leukemia' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodular urticaria pigmentosa' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bullous diffuse cutaneous mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Piebaldism' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Isolated bone marrow mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Plaque-form urticaria pigmentosa' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphoadenopathic mastocytosis with eosinophilia' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudoxanthomatous diffuse cutaneous mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Smouldering systemic mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical urticaria pigmentosa' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Aleukemic mast cell leukemia' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Telangiectasia macularis eruptiva perstans' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutaneous mastocytoma' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Classic mast cell leukemia' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodular urticaria pigmentosa' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Piebaldism' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bullous diffuse cutaneous mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_280659 Label: frizzled class receptor 6 - 'frizzled class receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nail dysplasia' - 'frizzled class receptor 6' SubClassOf 'gene' + 'frizzled class receptor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nail dysplasia' + 'frizzled class receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'frizzled class receptor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.3-q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2019 Label: Femur-fibula-ulna complex - 'Femur-fibula-ulna complex' SubClassOf 'has_inheritance' some 'sporadic' - 'Femur-fibula-ulna complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Femur-fibula-ulna complex' SubClassOf 'malformation syndrome' - 'Femur-fibula-ulna complex' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Femur-fibula-ulna complex' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Femur-fibula-ulna complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Femur-fibula-ulna complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Femur-fibula-ulna complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Femur-fibula-ulna complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Femur-fibula-ulna complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Femur-fibula-ulna complex' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79246 Label: Pyruvate dehydrogenase phosphatase deficiency - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_280651 Label: Acrodysostosis with multiple hormone resistance - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'disease' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Mandibulofacial dysostosis' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Polyendocrinopathy' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Acrodysostosis with multiple hormone resistance' SubClassOf 'disease' + 'Acrodysostosis with multiple hormone resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Acrodysostosis with multiple hormone resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acrodysostosis with multiple hormone resistance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibulofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_122868 Label: Kruppel-like factor 11 - 'Kruppel-like factor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'Kruppel-like factor 11' SubClassOf 'gene' + 'Kruppel-like factor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'Kruppel-like factor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Kruppel-like factor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_227990 Label: Autoimmune polyendocrinopathy type 4 - 'Autoimmune polyendocrinopathy type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune polyendocrinopathy type 4' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autoimmune polyendocrinopathy type 4' SubClassOf 'part_of' some 'Autoimmune polyendocrinopathy' - 'Autoimmune polyendocrinopathy type 4' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoimmune polyendocrinopathy type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 4' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_310406 Label: recombination signal binding protein for immunoglobulin kappa J region - 'recombination signal binding protein for immunoglobulin kappa J region' SubClassOf 'gene' - 'recombination signal binding protein for immunoglobulin kappa J region' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' + 'recombination signal binding protein for immunoglobulin kappa J region' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'recombination signal binding protein for immunoglobulin kappa J region' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' + 'recombination signal binding protein for immunoglobulin kappa J region' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_48686 Label: Primary effusion lymphoma - 'Primary effusion lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Primary effusion lymphoma' SubClassOf 'disease' - 'Primary effusion lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary effusion lymphoma' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'Primary effusion lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary effusion lymphoma' SubClassOf 'part_of' some 'HHV-8 related disorders' + 'Primary effusion lymphoma' SubClassOf 'disease' + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HHV-8 related disorders' + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Primary effusion lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79240 Label: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_79241 Label: Biotinidase deficiency - 'Biotinidase deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Biotinidase deficiency' SubClassOf 'disease' - 'Biotinidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Biotinidase deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Biotinidase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Biotinidase deficiency' SubClassOf 'part_of' some 'Multiple carboxylase deficiency' - 'Biotinidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple carboxylase deficiency' + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Biotinidase deficiency' SubClassOf 'disease' + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biotinidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Biotinidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Biotinidase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_310402 Label: chromosome 4 open reading frame 26 - 'chromosome 4 open reading frame 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' - 'chromosome 4 open reading frame 26' SubClassOf 'gene' + 'chromosome 4 open reading frame 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 4 open reading frame 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypomaturation amelogenesis imperfecta' + 'chromosome 4 open reading frame 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79242 Label: Holocarboxylase synthetase deficiency - 'Holocarboxylase synthetase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Holocarboxylase synthetase deficiency' SubClassOf 'part_of' some 'Multiple carboxylase deficiency' - 'Holocarboxylase synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holocarboxylase synthetase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Holocarboxylase synthetase deficiency' SubClassOf 'disease' + 'Holocarboxylase synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple carboxylase deficiency' + 'Holocarboxylase synthetase deficiency' SubClassOf 'disease' + 'Holocarboxylase synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Holocarboxylase synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holocarboxylase synthetase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Holocarboxylase synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_313795 Label: Jawad syndrome - 'Jawad syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Jawad syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Jawad syndrome' SubClassOf 'malformation syndrome' - 'Jawad syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jawad syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Jawad syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Jawad syndrome' SubClassOf 'malformation syndrome' + 'Jawad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Jawad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Jawad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Jawad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Jawad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Jawad syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79243 Label: Pyruvate dehydrogenase E1-alpha deficiency - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99757 Label: Embryonal rhabdomyosarcoma - 'Embryonal rhabdomyosarcoma' SubClassOf 'part_of' some 'Rhabdomyosarcoma' - 'Embryonal rhabdomyosarcoma' SubClassOf 'clinical subtype' + 'Embryonal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhabdomyosarcoma' + 'Embryonal rhabdomyosarcoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79244 Label: Pyruvate dehydrogenase E2 deficiency - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_263458 Label: Hyperinsulinism due to INSR deficiency - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'part_of' some 'Familial hyperinsulinism' - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hyperinsulinism due to INSR deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperinsulinism due to INSR deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperinsulinism' + 'Hyperinsulinism due to INSR deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99764 Label: Familial hyperreninemic hypoaldosteronism type 2 - 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'etiological subtype' - 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'part_of' some 'Familial hypoaldosteronism' + 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'etiological subtype' + 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_260331 Label: SMAD family member 3 - 'SMAD family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'SMAD family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aneurysm - osteoarthritis syndrome' - 'SMAD family member 3' SubClassOf 'gene' + 'SMAD family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'SMAD family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'SMAD family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SMAD family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aneurysm - osteoarthritis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263455 Label: Hyperinsulinism due to HNF4A deficiency - 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2020 Label: Congenital fiber-type disproportion myopathy - 'Congenital fiber-type disproportion myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'disease' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of selenoprotein N1' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital fiber-type disproportion myopathy' SubClassOf 'disease' + 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of tropomyosin' + 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of selenoprotein N1' + 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital fiber-type disproportion myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2021 Label: Fibrochondrogenesis - 'Fibrochondrogenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fibrochondrogenesis' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Fibrochondrogenesis' SubClassOf 'disease' - 'Fibrochondrogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fibrochondrogenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fibrochondrogenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibrochondrogenesis' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' + 'Fibrochondrogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fibrochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Fibrochondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fibrochondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fibrochondrogenesis' SubClassOf 'disease' + 'Fibrochondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fibrochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_99763 Label: Familial hyperreninemic hypoaldosteronism type 1 - 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'etiological subtype' - 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'part_of' some 'Familial hypoaldosteronism' + 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypoaldosteronism' + 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2022 Label: Endomyocardial fibroelastosis - 'Endomyocardial fibroelastosis' SubClassOf 'part_of' some 'Familial dilated cardiomyopathy' - 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Endomyocardial fibroelastosis' SubClassOf 'disease' - 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Endomyocardial fibroelastosis' SubClassOf 'part_of' some 'Dilated cardiomyopathy' - 'Endomyocardial fibroelastosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Endomyocardial fibroelastosis' SubClassOf 'part_of' some 'Restrictive cardiomyopathy' - 'Endomyocardial fibroelastosis' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Endomyocardial fibroelastosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Endomyocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Endomyocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dilated cardiomyopathy' + 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Endomyocardial fibroelastosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Endomyocardial fibroelastosis' SubClassOf 'disease' + 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Endomyocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Restrictive cardiomyopathy' + 'Endomyocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial dilated cardiomyopathy' + 'Endomyocardial fibroelastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_230800 Label: Toxin-mediated infectious botulism - 'Toxin-mediated infectious botulism' SubClassOf 'clinical subtype' - 'Toxin-mediated infectious botulism' SubClassOf 'part_of' some 'Botulism' + 'Toxin-mediated infectious botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' + 'Toxin-mediated infectious botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Toxin-mediated infectious botulism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2023 Label: Malignant fibrous histiocytoma - 'Malignant fibrous histiocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Malignant fibrous histiocytoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malignant fibrous histiocytoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Malignant fibrous histiocytoma' SubClassOf 'part_of' some 'Bone sarcoma' - 'Malignant fibrous histiocytoma' SubClassOf 'disease' - 'Malignant fibrous histiocytoma' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Malignant fibrous histiocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant fibrous histiocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Malignant fibrous histiocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Malignant fibrous histiocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant fibrous histiocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Malignant fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Malignant fibrous histiocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Malignant fibrous histiocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant fibrous histiocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26348 Label: Acquired prothrombin deficiency - 'Acquired prothrombin deficiency' SubClassOf 'disease' - 'Acquired prothrombin deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired prothrombin deficiency' SubClassOf 'disease' + 'Acquired prothrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_2024 Label: Hereditary gingival fibromatosis - 'Hereditary gingival fibromatosis' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' - 'Hereditary gingival fibromatosis' SubClassOf 'malformation syndrome' - 'Hereditary gingival fibromatosis' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Hereditary gingival fibromatosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary gingival fibromatosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary gingival fibromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary gingival fibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary gingival fibromatosis' SubClassOf 'malformation syndrome' + 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Hereditary gingival fibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_26349 Label: Protein S acquired deficiency - 'Protein S acquired deficiency' SubClassOf 'disease' - 'Protein S acquired deficiency' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Protein S acquired deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Protein S acquired deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122875 Label: kininogen 1 - 'kininogen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital high-molecular-weight kininogen deficiency' - 'kininogen 1' SubClassOf 'gene' + 'kininogen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital high-molecular-weight kininogen deficiency' + 'kininogen 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'kininogen 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2025 Label: Gingival fibromatosis - facial dysmorphism - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'malformation syndrome' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'malformation syndrome' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gingival fibromatosis - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2026 Label: Gingival fibromatosis-hypertrichosis syndrome - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'part_of' some 'Hypertrichosis' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'malformation syndrome' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'malformation syndrome' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2027 Label: Gingival fibromatosis - progressive deafness - 'Gingival fibromatosis - progressive deafness' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Gingival fibromatosis - progressive deafness' SubClassOf 'malformation syndrome' + 'Gingival fibromatosis - progressive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Gingival fibromatosis - progressive deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gingival fibromatosis - progressive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis - progressive deafness' SubClassOf 'malformation syndrome' + 'Gingival fibromatosis - progressive deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gingival fibromatosis - progressive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis - progressive deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2028 Label: Juvenile hyaline fibromatosis - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Juvenile hyaline fibromatosis' SubClassOf 'disease' - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Primary osteolysis' - 'Juvenile hyaline fibromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile hyaline fibromatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile hyaline fibromatosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Juvenile hyaline fibromatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Juvenile hyaline fibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile hyaline fibromatosis' SubClassOf 'disease' + 'Juvenile hyaline fibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Juvenile hyaline fibromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_280647 Label: laminin, gamma 3 - 'laminin, gamma 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital pachygyria and polymicrogyria' - 'laminin, gamma 3' SubClassOf 'gene' + 'laminin, gamma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31-q34"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, gamma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, gamma 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital pachygyria and polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_2029 Label: Multiple non-ossifying fibromatosis - 'Multiple non-ossifying fibromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Multiple non-ossifying fibromatosis' SubClassOf 'malformation syndrome' + 'Multiple non-ossifying fibromatosis' SubClassOf 'malformation syndrome' + 'Multiple non-ossifying fibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_122872 Label: kallikrein B, plasma (Fletcher factor) 1 - 'kallikrein B, plasma (Fletcher factor) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital prekallikrein deficiency' - 'kallikrein B, plasma (Fletcher factor) 1' SubClassOf 'gene' + 'kallikrein B, plasma (Fletcher factor) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital prekallikrein deficiency' + 'kallikrein B, plasma (Fletcher factor) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string + 'kallikrein B, plasma (Fletcher factor) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118713 Label: shroom family member 4 - 'shroom family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Stocco Dos Santos type' - 'shroom family member 4' SubClassOf 'gene' + 'shroom family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'shroom family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Stocco Dos Santos type' + 'shroom family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280640 Label: Occipital pachygyria and polymicrogyria - 'Occipital pachygyria and polymicrogyria' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Occipital pachygyria and polymicrogyria' SubClassOf 'malformation syndrome' + 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Occipital pachygyria and polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Occipital pachygyria and polymicrogyria' SubClassOf 'malformation syndrome' + 'Occipital pachygyria and polymicrogyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Occipital pachygyria and polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_118716 Label: sucrase-isomaltase (alpha-glucosidase) - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch intolerance' - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without starch intolerance' - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' - 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'gene' + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch intolerance' + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without starch intolerance' + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.2-q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'sucrase-isomaltase (alpha-glucosidase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' Class: http://www.orpha.net/ORDO/Orphanet_122879 Label: Kirsten rat sarcoma viral oncogene homolog - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Hereditary nonpolyposis colon cancer' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Linear nevus sebaceus syndrome' - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'gene' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Modifying somatic mutation in' some 'Hereditary nonpolyposis colon cancer' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Linear nevus sebaceus syndrome' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79258 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency type a - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'part_of' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_46532 Label: Hereditary persistence of fetal hemoglobin - beta-thalassemia - 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'disease' - 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'disease' + 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_118718 Label: SIL1 nucleotide exchange factor - 'SIL1 nucleotide exchange factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marinesco-Sj�gren syndrome' - 'SIL1 nucleotide exchange factor' SubClassOf 'gene' + 'SIL1 nucleotide exchange factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string + 'SIL1 nucleotide exchange factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Marinesco-Sj�gren syndrome' + 'SIL1 nucleotide exchange factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79259 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency type b - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'part_of' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79256 Label: GM1 gangliosidosis type 2 - 'GM1 gangliosidosis type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GM1 gangliosidosis type 2' SubClassOf 'part_of' some 'GM1 gangliosidosis' - 'GM1 gangliosidosis type 2' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'GM1 gangliosidosis type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GM1 gangliosidosis type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'GM1 gangliosidosis type 2' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'GM1 gangliosidosis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GM1 gangliosidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM1 gangliosidosis' + 'GM1 gangliosidosis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GM1 gangliosidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79257 Label: GM1 gangliosidosis type 3 - 'GM1 gangliosidosis type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GM1 gangliosidosis type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'GM1 gangliosidosis type 3' SubClassOf 'clinical subtype' - 'GM1 gangliosidosis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GM1 gangliosidosis type 3' SubClassOf 'part_of' some 'GM1 gangliosidosis' + 'GM1 gangliosidosis type 3' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'GM1 gangliosidosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM1 gangliosidosis' + 'GM1 gangliosidosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GM1 gangliosidosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79254 Label: Classical phenylketonuria - 'Classical phenylketonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classical phenylketonuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classical phenylketonuria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Classical phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' - 'Classical phenylketonuria' SubClassOf 'clinical subtype' + 'Classical phenylketonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classical phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classical phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phenylketonuria' + 'Classical phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classical phenylketonuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79255 Label: GM1 gangliosidosis type 1 - 'GM1 gangliosidosis type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GM1 gangliosidosis type 1' SubClassOf 'clinical subtype' - 'GM1 gangliosidosis type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GM1 gangliosidosis type 1' SubClassOf 'part_of' some 'GM1 gangliosidosis' - 'GM1 gangliosidosis type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'GM1 gangliosidosis type 1' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM1 gangliosidosis' + 'GM1 gangliosidosis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GM1 gangliosidosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_79253 Label: Mild phenylketonuria - 'Mild phenylketonuria' SubClassOf 'clinical subtype' - 'Mild phenylketonuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Mild phenylketonuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mild phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' - 'Mild phenylketonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mild phenylketonuria' SubClassOf 'clinical subtype' + 'Mild phenylketonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mild phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mild phenylketonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mild phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_263417 Label: Bartter syndrome with hypocalcemia - 'Bartter syndrome with hypocalcemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bartter syndrome with hypocalcemia' SubClassOf 'clinical subtype' - 'Bartter syndrome with hypocalcemia' SubClassOf 'part_of' some 'Bartter syndrome' - 'Bartter syndrome with hypocalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Bartter syndrome with hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Bartter syndrome with hypocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bartter syndrome with hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Bartter syndrome with hypocalcemia' SubClassOf 'clinical subtype' + 'Bartter syndrome with hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bartter syndrome with hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bartter syndrome with hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Bartter syndrome with hypocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_313781 Label: 20p13 microdeletion syndrome - '20p13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '20p13 microdeletion syndrome' SubClassOf 'malformation syndrome' - '20p13 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '20p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '20p13 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '20p13 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '20p13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 20' - '20p13 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + '20p13 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '20p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '20p13 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '20p13 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20p13 microdeletion syndrome' SubClassOf 'malformation syndrome' + '20p13 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 20' + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99771 Label: Bifid uvula - 'Bifid uvula' SubClassOf 'has_inheritance' some 'sporadic' - 'Bifid uvula' SubClassOf 'has_prevalence' some 'Unknown' - 'Bifid uvula' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bifid uvula' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Bifid uvula' SubClassOf 'clinical subtype' - 'Bifid uvula' SubClassOf 'part_of' some 'Cleft palate' + 'Bifid uvula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Bifid uvula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bifid uvula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bifid uvula' SubClassOf 'clinical subtype' + 'Bifid uvula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft palate' + 'Bifid uvula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_240071 Label: Classical progressive supranuclear palsy - 'Classical progressive supranuclear palsy' SubClassOf 'has_inheritance' some 'sporadic' - 'Classical progressive supranuclear palsy' SubClassOf 'clinical subtype' - 'Classical progressive supranuclear palsy' SubClassOf 'part_of' some 'Progressive supranuclear palsy' - 'Classical progressive supranuclear palsy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Classical progressive supranuclear palsy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Classical progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive supranuclear palsy' + 'Classical progressive supranuclear palsy' SubClassOf 'clinical subtype' + 'Classical progressive supranuclear palsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Classical progressive supranuclear palsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Classical progressive supranuclear palsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_99772 Label: Cleft velum - 'Cleft velum' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cleft velum' SubClassOf 'part_of' some 'Cleft palate' - 'Cleft velum' SubClassOf 'has_inheritance' some 'sporadic' - 'Cleft velum' SubClassOf 'clinical subtype' - 'Cleft velum' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Cleft velum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cleft velum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Cleft velum' SubClassOf 'clinical subtype' + 'Cleft velum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft velum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cleft velum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cleft velum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cleft velum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_289276 Label: glutamate receptor, ionotropic, N-methyl D-aspartate 2A - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy - speech dyspraxia' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'gene' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Landau-Kleffner syndrome' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Continuous spikes and waves during sleep' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy - speech dyspraxia' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Landau-Kleffner syndrome' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Continuous spikes and waves during sleep' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_99776 Label: Mosaic trisomy 9 - 'Mosaic trisomy 9' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 9' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 9' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_263425 Label: Nevus of Ota - 'Nevus of Ota' SubClassOf 'has_prevalence' some 'Unknown' - 'Nevus of Ota' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nevus of Ota' SubClassOf 'part_of' some 'Rare nevus' - 'Nevus of Ota' SubClassOf 'disease' - 'Nevus of Ota' SubClassOf 'has_inheritance' some 'sporadic' + 'Nevus of Ota' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Nevus of Ota' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nevus of Ota' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nevus of Ota' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307064 Label: Rare genetic myoclonus - 'Rare genetic myoclonus' SubClassOf 'group of disorders' + 'Rare genetic myoclonus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280636 Label: phosphatidylinositol glycan anchor biosynthesis, class N - 'phosphatidylinositol glycan anchor biosynthesis, class N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple congenital anomalies - hypotonia - seizures syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class N' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class N' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class N' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class N' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple congenital anomalies - hypotonia - seizures syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307061 Label: Rare genetic tremor disorder - 'Rare genetic tremor disorder' SubClassOf 'group of disorders' + 'Rare genetic tremor disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122883 Label: KRIT1, ankyrin repeat containing - 'KRIT1, ankyrin repeat containing' SubClassOf 'gene' - 'KRIT1, ankyrin repeat containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' + 'KRIT1, ankyrin repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'KRIT1, ankyrin repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KRIT1, ankyrin repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hereditary cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_307067 Label: Rare genetic disease with myoclonus as a major feature - 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'group of disorders' + 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1600 Label: Monosomy 18q - 'Monosomy 18q' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Monosomy 18q' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 18q' SubClassOf 'disease' - 'Monosomy 18q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 18' + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 18q' SubClassOf 'disease' + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 18' Class: http://www.orpha.net/ORDO/Orphanet_280633 Label: Multiple congenital anomalies - hypotonia - seizures syndrome - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'malformation syndrome' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122887 Label: keratin 1 - 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Annular epidermolytic ichthyosis' - 'keratin 1' SubClassOf 'gene' - 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis hystrix of Curth-Macklin' - 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic ichthyosis' - 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' - 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' + 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Annular epidermolytic ichthyosis' + 'keratin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Epidermolytic palmoplantar keratoderma' + 'keratin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis hystrix of Curth-Macklin' + 'keratin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic ichthyosis' + 'keratin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis palmoplantaris striata' Class: http://www.orpha.net/ORDO/Orphanet_307058 Label: Miscellaneous movement disorder due to genetic neurodegenerative disease - 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'group of disorders' + 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118703 Label: sonic hedgehog - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'sonic hedgehog' SubClassOf 'gene' - 'sonic hedgehog' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Solitary median maxillary central incisor syndrome' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'sonic hedgehog' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Solitary median maxillary central incisor syndrome' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'sonic hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sonic hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36"^^http://www.w3.org/2001/XMLSchema#string + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_1606 Label: 1p36 deletion syndrome - '1p36 deletion syndrome' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - '1p36 deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '1p36 deletion syndrome' SubClassOf 'malformation syndrome' - '1p36 deletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '1p36 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' - '1p36 deletion syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - '1p36 deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '1p36 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '1p36 deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 1' + '1p36 deletion syndrome' SubClassOf 'malformation syndrome' + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + '1p36 deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '1p36 deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + '1p36 deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79269 Label: Sanfilippo syndrome type A - 'Sanfilippo syndrome type A' SubClassOf 'etiological subtype' - 'Sanfilippo syndrome type A' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sanfilippo syndrome type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sanfilippo syndrome type A' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type A' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 3' + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.88"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Sanfilippo syndrome type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.62"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_118707 Label: short stature homeobox - 'short stature homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'SHOX-related short stature' - 'short stature homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'L�ri-Weill dyschondrosteosis' - 'short stature homeobox' SubClassOf 'gene' - 'short stature homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Langer mesomelic dysplasia' + 'short stature homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'SHOX-related short stature' + 'short stature homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'L�ri-Weill dyschondrosteosis' + 'short stature homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'short stature homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.32"^^http://www.w3.org/2001/XMLSchema#string + 'short stature homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.33"^^http://www.w3.org/2001/XMLSchema#string + 'short stature homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Langer mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79263 Label: Infantile neuronal ceroid lipofuscinosis - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_313772 Label: Early-onset spastic ataxia-neuropathy syndrome - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'disease' - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'disease' + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_260305 Label: Autosomal recessive sideroblastic anemia - 'Autosomal recessive sideroblastic anemia' SubClassOf 'disease' - 'Autosomal recessive sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Autosomal recessive sideroblastic anemia' SubClassOf 'disease' + 'Autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_79264 Label: Juvenile neuronal ceroid lipofuscinosis - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79262 Label: Adult neuronal ceroid lipofuscinosis - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal ceroid lipofuscinosis' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289266 Label: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'disease' - 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'disease' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_263432 Label: Nevus of Ito - 'Nevus of Ito' SubClassOf 'part_of' some 'Rare nevus' - 'Nevus of Ito' SubClassOf 'has_prevalence' some 'Unknown' - 'Nevus of Ito' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nevus of Ito' SubClassOf 'disease' - 'Nevus of Ito' SubClassOf 'has_inheritance' some 'sporadic' + 'Nevus of Ito' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Nevus of Ito' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Nevus of Ito' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nevus of Ito' SubClassOf 'disease' + 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_2001 Label: Cleft lip/palate - intestinal malrotation - cardiopathy - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'malformation syndrome' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'malformation syndrome' + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_284993 Label: Marfan and Marfan-related disorder - 'Marfan and Marfan-related disorder' SubClassOf 'group of disorders' + 'Marfan and Marfan-related disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263435 Label: Congenital smooth muscle hamartoma - 'Congenital smooth muscle hamartoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital smooth muscle hamartoma' SubClassOf 'disease' - 'Congenital smooth muscle hamartoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital smooth muscle hamartoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Congenital smooth muscle hamartoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital smooth muscle hamartoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Congenital smooth muscle hamartoma' SubClassOf 'disease' + 'Congenital smooth muscle hamartoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital smooth muscle hamartoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital smooth muscle hamartoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital smooth muscle hamartoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99789 Label: Dentin dysplasia type I - 'Dentin dysplasia type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dentin dysplasia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dentin dysplasia type I' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Dentin dysplasia type I' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dentin dysplasia type I' SubClassOf 'part_of' some 'Dentin dysplasia' - 'Dentin dysplasia type I' SubClassOf 'disease' + 'Dentin dysplasia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dentin dysplasia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dentin dysplasia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentin dysplasia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dentin dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentin dysplasia' + 'Dentin dysplasia type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122891 Label: keratin 10 - 'keratin 10' SubClassOf 'gene' - 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital reticular ichthyosiform erythroderma' - 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic ichthyosis' - 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Annular epidermolytic ichthyosis' + 'keratin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital reticular ichthyosiform erythroderma' + 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic ichthyosis' + 'keratin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Annular epidermolytic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_280628 Label: Familial progressive hyper- and hypopigmentation - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'part_of' some 'Genetic pigmentation anomaly of the skin' - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'disease' - 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial progressive hyper- and hypopigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial progressive hyper- and hypopigmentation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial progressive hyper- and hypopigmentation' SubClassOf 'disease' + 'Familial progressive hyper- and hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation anomaly of the skin' + 'Familial progressive hyper- and hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_240085 Label: Progressive supranuclear palsy - parkinsonism - 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'clinical subtype' - 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2007 Label: Alar cartilages hypoplasia - coloboma - telecanthus - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'malformation syndrome' - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'malformation syndrome' + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122894 Label: keratin 12 - 'keratin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meesmann corneal dystrophy' - 'keratin 12' SubClassOf 'gene' + 'keratin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meesmann corneal dystrophy' + 'keratin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2008 Label: Acro-cardio-facial syndrome - 'Acro-cardio-facial syndrome' SubClassOf 'malformation syndrome' - 'Acro-cardio-facial syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acro-cardio-facial syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Acro-cardio-facial syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-cardio-facial syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Acro-cardio-facial syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Acro-cardio-facial syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-cardio-facial syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Acro-cardio-facial syndrome' SubClassOf 'malformation syndrome' + 'Acro-cardio-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-cardio-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acro-cardio-facial syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Acro-cardio-facial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_280623 Label: golgi SNAP receptor complex member 2 - 'golgi SNAP receptor complex member 2' SubClassOf 'gene' - 'golgi SNAP receptor complex member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 6' + 'golgi SNAP receptor complex member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'golgi SNAP receptor complex member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'golgi SNAP receptor complex member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 6' Class: http://www.orpha.net/ORDO/Orphanet_307052 Label: Rare genetic parkinsonian disorder - 'Rare genetic parkinsonian disorder' SubClassOf 'group of disorders' + 'Rare genetic parkinsonian disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_307055 Label: Rare parkinsonian syndrome due to genetic neurodegenerative disease - 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'group of disorders' + 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122897 Label: keratin 14 - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with mottled pigmentation' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive epidermolysis bullosa simplex' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Dowling-Meara type' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized epidermolysis bullosa simplex' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dermatopathia pigmentosa reticularis' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' - 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Naegeli-Franceschetti-Jadassohn syndrome' - 'keratin 14' SubClassOf 'gene' + 'keratin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with mottled pigmentation' + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive epidermolysis bullosa simplex' + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Dowling-Meara type' + 'keratin 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized epidermolysis bullosa simplex' + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dermatopathia pigmentosa reticularis' + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' + 'keratin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Naegeli-Franceschetti-Jadassohn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2003 Label: Cleft lip/palate - deafness - sacral lipoma - 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'malformation syndrome' - 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'malformation syndrome' + 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2004 Label: Laryngo-tracheo-esophageal cleft - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'part_of' some 'Larynx anomaly' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'morphological anomaly' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'part_of' some 'Respiratory malformation' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_prevalence' some 'Unknown' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_inheritance' some 'sporadic' - 'Laryngo-tracheo-esophageal cleft' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' + 'Laryngo-tracheo-esophageal cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Laryngo-tracheo-esophageal cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Laryngo-tracheo-esophageal cleft' SubClassOf 'morphological anomaly' + 'Laryngo-tracheo-esophageal cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Laryngo-tracheo-esophageal cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Laryngo-tracheo-esophageal cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2005 Label: Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia - 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'malformation syndrome' - 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'part_of' some 'Tracheal anomaly' - 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'part_of' some 'Respiratory malformation' + 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'malformation syndrome' + 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_280620 Label: Progressive myoclonic epilepsy type 6 - 'Progressive myoclonic epilepsy type 6' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Progressive myoclonic epilepsy type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive myoclonic epilepsy type 6' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive myoclonic epilepsy type 6' SubClassOf 'disease' - 'Progressive myoclonic epilepsy type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive myoclonic epilepsy type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive myoclonic epilepsy type 6' SubClassOf 'disease' + 'Progressive myoclonic epilepsy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive myoclonic epilepsy type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2006 Label: Median cleft lip/mandibule - 'Median cleft lip/mandibule' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Median cleft lip/mandibule' SubClassOf 'part_of' some 'Median facial cleft' - 'Median cleft lip/mandibule' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Median cleft lip/mandibule' SubClassOf 'morphological anomaly' + 'Median cleft lip/mandibule' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Median cleft lip/mandibule' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Median cleft lip/mandibule' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Median cleft lip/mandibule' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Median cleft lip/mandibule' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_332465 Label: contactin 2 (axonal) - 'contactin 2 (axonal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy' - 'contactin 2 (axonal)' SubClassOf 'gene' + 'contactin 2 (axonal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy' + 'contactin 2 (axonal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'contactin 2 (axonal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293326 Label: leucine zipper-EF-hand containing transmembrane protein 1 - 'leucine zipper-EF-hand containing transmembrane protein 1' SubClassOf 'Role in the phenotype of' some 'Wolf-Hirschhorn syndrome' - 'leucine zipper-EF-hand containing transmembrane protein 1' SubClassOf 'gene' + 'leucine zipper-EF-hand containing transmembrane protein 1' SubClassOf 'Role in the phenotype of' some 'Wolf-Hirschhorn syndrome' + 'leucine zipper-EF-hand containing transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'leucine zipper-EF-hand containing transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309294 Label: Sialidosis - 'Sialidosis' SubClassOf 'group of disorders' + 'Sialidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sialidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sialidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Sialidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sialidosis' SubClassOf 'group of disorders' + 'Sialidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sialidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1636 Label: Distal monosomy 7q36 - 'Distal monosomy 7q36' SubClassOf 'malformation syndrome' - 'Distal monosomy 7q36' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 7' + 'Distal monosomy 7q36' SubClassOf 'malformation syndrome' + 'Distal monosomy 7q36' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_122834 Label: KIAA1279 - 'KIAA1279' SubClassOf 'Disease-causing germline mutation(s) in' some 'Goldberg-Shprintzen megacolon syndrome' - 'KIAA1279' SubClassOf 'gene' + 'KIAA1279' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA1279' SubClassOf 'Disease-causing germline mutation(s) in' some 'Goldberg-Shprintzen megacolon syndrome' + 'KIAA1279' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121388 Label: apolipoprotein C-II - 'apolipoprotein C-II' SubClassOf 'gene' - 'apolipoprotein C-II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial apolipoprotein C-II deficiency' + 'apolipoprotein C-II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial apolipoprotein C-II deficiency' + 'apolipoprotein C-II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein C-II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_255229 Label: Navajo neurohepatopathy - 'Navajo neurohepatopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Navajo neurohepatopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Navajo neurohepatopathy' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' - 'Navajo neurohepatopathy' SubClassOf 'disease' - 'Navajo neurohepatopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Navajo neurohepatopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Navajo neurohepatopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Navajo neurohepatopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Navajo neurohepatopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Navajo neurohepatopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79319 Label: MPI-CDG - 'MPI-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MPI-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'MPI-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with intestinal involvement' - 'MPI-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'MPI-CDG' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'MPI-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MPI-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MPI-CDG' SubClassOf 'disease' + 'MPI-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'MPI-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MPI-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with intestinal involvement' + 'MPI-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'MPI-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121386 Label: apolipoprotein B - 'apolipoprotein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' - 'apolipoprotein B' SubClassOf 'gene' + 'apolipoprotein B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apolipoprotein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'apolipoprotein B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24-p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_263494 Label: DPM3-CDG - 'DPM3-CDG' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'DPM3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'DPM3-CDG' SubClassOf 'disease' - 'DPM3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'DPM3-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'DPM3-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DPM3-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'DPM3-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'DPM3-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'DPM3-CDG' SubClassOf 'disease' + 'DPM3-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'DPM3-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_309297 Label: Mucopolysaccharidosis type 4A - 'Mucopolysaccharidosis type 4A' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Mucopolysaccharidosis type 4A' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 4' - 'Mucopolysaccharidosis type 4A' SubClassOf 'clinical subtype' - 'Mucopolysaccharidosis type 4A' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Mucopolysaccharidosis type 4A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Mucopolysaccharidosis type 4A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 4' + 'Mucopolysaccharidosis type 4A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 4A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_122831 Label: KIAA0196 - 'KIAA0196' SubClassOf 'Disease-causing germline mutation(s) in' some '3C syndrome' - 'KIAA0196' SubClassOf 'gene' - 'KIAA0196' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 8' + 'KIAA0196' SubClassOf 'Disease-causing germline mutation(s) in' some '3C syndrome' + 'KIAA0196' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA0196' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.13"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA0196' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 8' Class: http://www.orpha.net/ORDO/Orphanet_999 Label: Ermine phenotype - 'Ermine phenotype' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ermine phenotype' SubClassOf 'malformation syndrome' - 'Ermine phenotype' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ermine phenotype' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ermine phenotype' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ermine phenotype' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ermine phenotype' SubClassOf 'malformation syndrome' + 'Ermine phenotype' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ermine phenotype' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Ermine phenotype' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139393 Label: Syndromic craniosynostosis - 'Syndromic craniosynostosis' SubClassOf 'group of disorders' + 'Syndromic craniosynostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121382 Label: apolipoprotein A-V - 'apolipoprotein A-V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 4' - 'apolipoprotein A-V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' - 'apolipoprotein A-V' SubClassOf 'gene' + 'apolipoprotein A-V' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apolipoprotein A-V' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein A-V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 4' + 'apolipoprotein A-V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' Class: http://www.orpha.net/ORDO/Orphanet_166002 Label: Multiple epiphyseal dysplasia due to collagen 9 anomaly - 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_121380 Label: apolipoprotein A-I - 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to Apolipoprotein AI variant' - 'apolipoprotein A-I' SubClassOf 'gene' - 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' - 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary systemic amyloidosis' + 'apolipoprotein A-I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to Apolipoprotein AI variant' + 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' + 'apolipoprotein A-I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary systemic amyloidosis' + 'apolipoprotein A-I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139390 Label: Isolated craniosynostosis - 'Isolated craniosynostosis' SubClassOf 'group of disorders' + 'Isolated craniosynostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124077 Label: 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, Pakistani type' - '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachyolmia type 1, Toledo type' - '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf 'gene' + '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachyolmia type 1, Toledo type' + '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, Pakistani type' + '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '3'-phosphoadenosine 5'-phosphosulfate synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99723 Label: Familial esophageal achalasia - 'Familial esophageal achalasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial esophageal achalasia' SubClassOf 'part_of' some 'Idiopathic achalasia' - 'Familial esophageal achalasia' SubClassOf 'clinical subtype' - 'Familial esophageal achalasia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Familial esophageal achalasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial esophageal achalasia' SubClassOf 'clinical subtype' + 'Familial esophageal achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Familial esophageal achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic achalasia' Class: http://www.orpha.net/ORDO/Orphanet_99722 Label: Sporadic achalasia - 'Sporadic achalasia' SubClassOf 'clinical subtype' - 'Sporadic achalasia' SubClassOf 'part_of' some 'Idiopathic achalasia' + 'Sporadic achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic achalasia' + 'Sporadic achalasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79321 Label: ALG3-CDG - 'ALG3-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG3-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG3-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG3-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG3-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG3-CDG' SubClassOf 'disease' + 'ALG3-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG3-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG3-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG3-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG3-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79320 Label: ALG6-CDG - 'ALG6-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG6-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG6-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG6-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG6-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG6-CDG' SubClassOf 'disease' - 'ALG6-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with intestinal involvement' + 'ALG6-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG6-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG6-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with intestinal involvement' + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG6-CDG' SubClassOf 'disease' + 'ALG6-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_282786 Label: glutamate receptor, ionotropic, N-methyl D-aspartate 1 - 'glutamate receptor, ionotropic, N-methyl D-aspartate 1' SubClassOf 'gene' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor, ionotropic, N-methyl D-aspartate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99718 Label: Leber plus disease - 'Leber plus disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leber plus disease' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Leber plus disease' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Leber plus disease' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' - 'Leber plus disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Leber plus disease' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Leber plus disease' SubClassOf 'part_of' some 'Optic neuropathy' - 'Leber plus disease' SubClassOf 'disease' - 'Leber plus disease' SubClassOf 'part_of' some 'Mitochondrial disease with eye involvement' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with eye involvement' + 'Leber plus disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with dilated cardiomyopathy' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Leber plus disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Leber plus disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leber plus disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leber plus disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Leber plus disease' SubClassOf 'disease' + 'Leber plus disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_87503 Label: Mal de Meleda - 'Mal de Meleda' SubClassOf 'disease' - 'Mal de Meleda' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'Mal de Meleda' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'Mal de Meleda' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139399 Label: Adrenomyeloneuropathy - 'Adrenomyeloneuropathy' SubClassOf 'clinical subtype' - 'Adrenomyeloneuropathy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Adrenomyeloneuropathy' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Adrenomyeloneuropathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adrenomyeloneuropathy' SubClassOf 'part_of' some 'X-linked adrenoleukodystrophy' + 'Adrenomyeloneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Adrenomyeloneuropathy' SubClassOf 'clinical subtype' + 'Adrenomyeloneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adrenomyeloneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked adrenoleukodystrophy' + 'Adrenomyeloneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_124070 Label: pantothenate kinase 2 - 'pantothenate kinase 2' SubClassOf 'gene' - 'pantothenate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic pantothenate kinase-associated neurodegeneration' - 'pantothenate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical pantothenate kinase-associated neurodegeneration' + 'pantothenate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pantothenate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic pantothenate kinase-associated neurodegeneration' + 'pantothenate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'pantothenate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_139396 Label: X-linked cerebral adrenoleukodystrophy - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'clinical subtype' - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'part_of' some 'X-linked adrenoleukodystrophy' - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'clinical subtype' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked adrenoleukodystrophy' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked cerebral adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_404076 Label: lipoic acid synthetase - 'lipoic acid synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoic acid synthetase deficiency' - 'lipoic acid synthetase' SubClassOf 'gene' + 'lipoic acid synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoic acid synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoic acid synthetase deficiency' + 'lipoic acid synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_264935 Label: Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder - 'Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder' SubClassOf 'group of disorders' + 'Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79329 Label: MGAT2-CDG - 'MGAT2-CDG' SubClassOf 'disease' - 'MGAT2-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MGAT2-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MGAT2-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'MGAT2-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MGAT2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'MGAT2-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'MGAT2-CDG' SubClassOf 'disease' + 'MGAT2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MGAT2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'MGAT2-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MGAT2-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79328 Label: ALG9-CDG - 'ALG9-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG9-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG9-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'ALG9-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG9-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG9-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG9-CDG' SubClassOf 'disease' + 'ALG9-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG9-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG9-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG9-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG9-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79327 Label: ALG1-CDG - 'ALG1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG1-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG1-CDG' SubClassOf 'disease' + 'ALG1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG1-CDG' SubClassOf 'disease' + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79326 Label: ALG2-CDG - 'ALG2-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG2-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG2-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'ALG2-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG2-CDG' SubClassOf 'disease' - 'ALG2-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'ALG2-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG2-CDG' SubClassOf 'disease' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG2-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1627 Label: Distal monosomy 5q - 'Distal monosomy 5q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' - 'Distal monosomy 5q' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 5q' SubClassOf 'malformation syndrome' - 'Distal monosomy 5q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 5q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Distal monosomy 5q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Distal monosomy 5q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal monosomy 5q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal monosomy 5q' SubClassOf 'malformation syndrome' + 'Distal monosomy 5q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Distal monosomy 5q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' + 'Distal monosomy 5q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122825 Label: keratocan - 'keratocan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cornea plana' - 'keratocan' SubClassOf 'gene' + 'keratocan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cornea plana' + 'keratocan' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratocan' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79325 Label: ALG8-CDG - 'ALG8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'ALG8-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG8-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG8-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with nephropathy as a major feature' - 'ALG8-CDG' SubClassOf 'disease' - 'ALG8-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with intestinal involvement' - 'ALG8-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG8-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG8-CDG' SubClassOf 'disease' + 'ALG8-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'ALG8-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with intestinal involvement' + 'ALG8-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_79324 Label: ALG12-CDG - 'ALG12-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'ALG12-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG12-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'ALG12-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG12-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG12-CDG' SubClassOf 'disease' + 'ALG12-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'ALG12-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG12-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG12-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ALG12-CDG' SubClassOf 'disease' + 'ALG12-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG12-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79323 Label: MPDU1-CDG - 'MPDU1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'MPDU1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MPDU1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'MPDU1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'MPDU1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'MPDU1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MPDU1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MPDU1-CDG' SubClassOf 'disease' + 'MPDU1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'MPDU1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MPDU1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'MPDU1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'MPDU1-CDG' SubClassOf 'disease' + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_79322 Label: DPM1-CDG - 'DPM1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'DPM1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DPM1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'DPM1-CDG' SubClassOf 'disease' - 'DPM1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'DPM1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' + 'DPM1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'DPM1-CDG' SubClassOf 'disease' + 'DPM1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DPM1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'DPM1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DPM1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DPM1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122829 Label: ketohexokinase (fructokinase) - 'ketohexokinase (fructokinase)' SubClassOf 'gene' - 'ketohexokinase (fructokinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Essential fructosuria' + 'ketohexokinase (fructokinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ketohexokinase (fructokinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Essential fructosuria' + 'ketohexokinase (fructokinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3-p23.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_255235 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'clinical subtype' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'clinical subtype' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_395886 Label: adrenoceptor alpha 2B - 'adrenoceptor alpha 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy' - 'adrenoceptor alpha 2B' SubClassOf 'gene' + 'adrenoceptor alpha 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Benign adult familial myoclonic epilepsy' + 'adrenoceptor alpha 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adrenoceptor alpha 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1621 Label: 3q13 microdeletion syndrome - '3q13 microdeletion syndrome' SubClassOf 'malformation syndrome' - '3q13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' + '3q13 microdeletion syndrome' SubClassOf 'malformation syndrome' + '3q13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_293315 Label: SH2B adaptor protein 1 - 'SH2B adaptor protein 1' SubClassOf 'Role in the phenotype of' some 'Proximal 16p11.2 microdeletion syndrome' - 'SH2B adaptor protein 1' SubClassOf 'gene' - 'SH2B adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' - 'SH2B adaptor protein 1' SubClassOf 'Role in the phenotype of' some 'Distal 16p11.2 microdeletion syndrome' + 'SH2B adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH2B adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'SH2B adaptor protein 1' SubClassOf 'Role in the phenotype of' some 'Proximal 16p11.2 microdeletion syndrome' + 'SH2B adaptor protein 1' SubClassOf 'Role in the phenotype of' some 'Distal 16p11.2 microdeletion syndrome' + 'SH2B adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1620 Label: Distal monosomy 3p - 'Distal monosomy 3p' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Distal monosomy 3p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 3' - 'Distal monosomy 3p' SubClassOf 'malformation syndrome' + 'Distal monosomy 3p' SubClassOf 'malformation syndrome' + 'Distal monosomy 3p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 3' + 'Distal monosomy 3p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122821 Label: potassium voltage-gated channel, KQT-like subfamily, member 4 - 'potassium voltage-gated channel, KQT-like subfamily, member 4' SubClassOf 'gene' - 'potassium voltage-gated channel, KQT-like subfamily, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'potassium voltage-gated channel, KQT-like subfamily, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, KQT-like subfamily, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'potassium voltage-gated channel, KQT-like subfamily, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263482 Label: Spondyloepiphyseal dysplasia, Maroteaux type - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'disease' - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some 'sporadic' - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_166011 Label: Multiple epiphyseal dysplasia, Beighton type - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_263487 Label: COG5-CDG - 'COG5-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' - 'COG5-CDG' SubClassOf 'disease' - 'COG5-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'COG5-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'COG5-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG5-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'COG5-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' + 'COG5-CDG' SubClassOf 'disease' + 'COG5-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG5-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'COG5-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG5-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_166016 Label: Multiple epiphyseal dysplasia, Lowry type - 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289176 Label: Autosomal recessive hypophosphatemic rickets - 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'disease' - 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'part_of' some 'Hypophosphatemic rickets' - 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'disease' + 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal recessive hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatemic rickets' + 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_124062 Label: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) - 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'gene' - 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' - 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' - 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to LIS1 mutation' - 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Subcortical band heterotopia' + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to LIS1 mutation' + 'platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Subcortical band heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_121374 Label: adaptor-related protein complex 3, beta 1 subunit - 'adaptor-related protein complex 3, beta 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with neutropenia' - 'adaptor-related protein complex 3, beta 1 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 3, beta 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome with neutropenia' + 'adaptor-related protein complex 3, beta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'adaptor-related protein complex 3, beta 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_264930 Label: Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder - 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' SubClassOf 'group of disorders' + 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124068 Label: phenylalanine hydroxylase - 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternal hyperphenylalaninemia' - 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' - 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild phenylketonuria' - 'phenylalanine hydroxylase' SubClassOf 'gene' - 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical phenylketonuria' - 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hyperphenylalaninemia' + 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternal hyperphenylalaninemia' + 'phenylalanine hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' + 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild phenylketonuria' + 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical phenylketonuria' + 'phenylalanine hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22-q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'phenylalanine hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild hyperphenylalaninemia' Class: http://www.orpha.net/ORDO/Orphanet_364602 Label: growth differentiation factor 2 - 'growth differentiation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' - 'growth differentiation factor 2' SubClassOf 'gene' + 'growth differentiation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' + 'growth differentiation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_102069 Label: Hepatic amyloidosis with intrahepatic cholestasis - 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf 'disease' - 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf 'disease' + 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_79310 Label: Vitamin B12-responsive methylmalonic acidemia type cblA - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'part_of' some 'Vitamin B12-responsive methylmalonic acidemia' - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'clinical subtype' - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-responsive methylmalonic acidemia' + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99706 Label: Progeria-associated arthropathy - 'Progeria-associated arthropathy' SubClassOf 'disease' - 'Progeria-associated arthropathy' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Progeria-associated arthropathy' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Progeria-associated arthropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Progeria-associated arthropathy' SubClassOf 'disease' + 'Progeria-associated arthropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_79316 Label: Phosphoenolpyruvate carboxykinase 1 deficiency - 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'etiological subtype' - 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'part_of' some 'Phosphoenolpyruvate carboxykinase deficiency' + 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'etiological subtype' + 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79315 Label: D-2-hydroxyglutaric aciduria - 'D-2-hydroxyglutaric aciduria' SubClassOf 'part_of' some '2-hydroxyglutaric aciduria' - 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'D-2-hydroxyglutaric aciduria' SubClassOf 'disease' - 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'D-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '2-hydroxyglutaric aciduria' + 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'D-2-hydroxyglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'D-2-hydroxyglutaric aciduria' SubClassOf 'disease' + 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'D-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_79318 Label: PMM2-CDG - 'PMM2-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PMM2-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'PMM2-CDG' SubClassOf 'disease' - 'PMM2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'PMM2-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'PMM2-CDG' SubClassOf 'has_prevalence' some 'Unknown' - 'PMM2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'PMM2-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'PMM2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'PMM2-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'PMM2-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'PMM2-CDG' SubClassOf 'disease' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'PMM2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PMM2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1617 Label: 2q24 microdeletion syndrome - '2q24 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q24 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q24 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q24 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q24 microdeletion syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - '2q24 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '2q24 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q24 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q24 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + '2q24 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q24 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79317 Label: Phosphoenolpyruvate carboxykinase 2 deficiency - 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'etiological subtype' - 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'part_of' some 'Phosphoenolpyruvate carboxykinase deficiency' + 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'etiological subtype' + 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79312 Label: Vitamin B12-unresponsive methylmalonic acidemia type mut- - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'part_of' some 'Vitamin B12-unresponsive methylmalonic acidemia' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'part_of' some 'Vitamin B12-responsive methylmalonic acidemia' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'clinical subtype' - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_prevalence' some 'Unknown' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-responsive methylmalonic acidemia' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-unresponsive methylmalonic acidemia' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'clinical subtype' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_51890 Label: Komar syndrome - 'Komar syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Komar syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Komar syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Komar syndrome' SubClassOf 'malformation syndrome' + 'Komar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Komar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Komar syndrome' SubClassOf 'malformation syndrome' + 'Komar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_122817 Label: potassium voltage-gated channel, KQT-like subfamily, member 3 - 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'gene' - 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' - 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' - 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal seizures' + 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' + 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' + 'potassium voltage-gated channel, KQT-like subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal seizures' Class: http://www.orpha.net/ORDO/Orphanet_79311 Label: Vitamin B12-responsive methylmalonic acidemia type cblB - 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'part_of' some 'Vitamin B12-responsive methylmalonic acidemia' - 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'clinical subtype' + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12-responsive methylmalonic acidemia' + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79314 Label: L-2-hydroxyglutaric aciduria - 'L-2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'L-2-hydroxyglutaric aciduria' SubClassOf 'part_of' some '2-hydroxyglutaric aciduria' - 'L-2-hydroxyglutaric aciduria' SubClassOf 'disease' - 'L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'L-2-hydroxyglutaric aciduria' SubClassOf 'disease' + 'L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '2-hydroxyglutaric aciduria' + 'L-2-hydroxyglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_313800 Label: Optic nerve edema-splenomegaly syndrome - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'part_of' some 'Optic neuropathy' - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'clinical syndrome' + 'Optic nerve edema-splenomegaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Optic nerve edema-splenomegaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' + 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'clinical syndrome' + 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Optic nerve edema-splenomegaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1658 Label: Absence of fingerprints - congenital milia - 'Absence of fingerprints - congenital milia' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Absence of fingerprints - congenital milia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Absence of fingerprints - congenital milia' SubClassOf 'disease' - 'Absence of fingerprints - congenital milia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Absence of fingerprints - congenital milia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Absence of fingerprints - congenital milia' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Absence of fingerprints - congenital milia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Absence of fingerprints - congenital milia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Absence of fingerprints - congenital milia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Absence of fingerprints - congenital milia' SubClassOf 'disease' + 'Absence of fingerprints - congenital milia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Absence of fingerprints - congenital milia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_158687 Label: Lethal acantholytic epidermolysis bullosa - 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'disease' - 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'part_of' some 'Suprabasal epidermolysis bullosa simplex' - 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lethal acantholytic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Suprabasal epidermolysis bullosa simplex' + 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal acantholytic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1657 Label: Dermatoosteolysis, Kirghizian type - 'Dermatoosteolysis, Kirghizian type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dermatoosteolysis, Kirghizian type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dermatoosteolysis, Kirghizian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dermatoosteolysis, Kirghizian type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dermatoosteolysis, Kirghizian type' SubClassOf 'malformation syndrome' + 'Dermatoosteolysis, Kirghizian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dermatoosteolysis, Kirghizian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dermatoosteolysis, Kirghizian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dermatoosteolysis, Kirghizian type' SubClassOf 'malformation syndrome' + 'Dermatoosteolysis, Kirghizian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1656 Label: Dermatitis herpetiformis - 'Dermatitis herpetiformis' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Dermatitis herpetiformis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dermatitis herpetiformis' SubClassOf 'disease' - 'Dermatitis herpetiformis' SubClassOf 'has_inheritance' some 'sporadic' - 'Dermatitis herpetiformis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf 'disease' + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "75.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dermatitis herpetiformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1655 Label: M�llerian derivatives - lymphangiectasia - polydactyly - 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'malformation syndrome' - 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'M�llerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218439 Label: Non-genetic cardiac rhythm disease - 'Non-genetic cardiac rhythm disease' SubClassOf 'group of disorders' + 'Non-genetic cardiac rhythm disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1654 Label: Natal teeth - intestinal pseudoobstruction - patent ductus - 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'malformation syndrome' - 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'malformation syndrome' + 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1653 Label: Dentin dysplasia - 'Dentin dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Dentin dysplasia' SubClassOf 'group of disorders' - 'Dentin dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Dentin dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dentin dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dentin dysplasia' SubClassOf 'group of disorders' + 'Dentin dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122851 Label: kinesin family member 5A - 'kinesin family member 5A' SubClassOf 'gene' - 'kinesin family member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 10' - 'kinesin family member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' + 'kinesin family member 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' + 'kinesin family member 5A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 5A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 10' Class: http://www.orpha.net/ORDO/Orphanet_293303 Label: cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' - 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' + 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_1652 Label: Dent disease - 'Dent disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Dent disease' SubClassOf 'disease' - 'Dent disease' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Dent disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dent disease' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Dent disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Dent disease' SubClassOf 'disease' + 'Dent disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dent disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dent disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Dent disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_309279 Label: Glycoproteinosis - 'Glycoproteinosis' SubClassOf 'group of disorders' + 'Glycoproteinosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124056 Label: PARK2 co-regulated - 'PARK2 co-regulated' SubClassOf 'gene' - 'PARK2 co-regulated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'PARK2 co-regulated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q26"^^http://www.w3.org/2001/XMLSchema#string + 'PARK2 co-regulated' SubClassOf 'Candidate gene tested in' some 'Young adult-onset Parkinsonism' + 'PARK2 co-regulated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99742 Label: Amish lethal microcephaly - 'Amish lethal microcephaly' SubClassOf 'malformation syndrome' - 'Amish lethal microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amish lethal microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amish lethal microcephaly' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Amish lethal microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Amish lethal microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Amish lethal microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amish lethal microcephaly' SubClassOf 'malformation syndrome' + 'Amish lethal microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Amish lethal microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amish lethal microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "200.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Amish lethal microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99745 Label: Typhoid - 'Typhoid' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Typhoid' SubClassOf 'has_prevalence' some 'Unknown' - 'Typhoid' SubClassOf 'disease' - 'Typhoid' SubClassOf 'has_inheritance' some 'sporadic' - 'Typhoid' SubClassOf 'part_of' some 'Rare form of salmonellosis' + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409986) + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409985) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare form of salmonellosis' + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409989) and (http://www.orpha.net/ORDO/Orphanet_C032 value "274.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "53.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C032 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Typhoid' SubClassOf 'disease' + 'Typhoid' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_158681 Label: Epidermolysis bullosa simplex with circinate migratory erythema - 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168365 Label: doublesex and mab-3 related transcription factor 2 - 'doublesex and mab-3 related transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' - 'doublesex and mab-3 related transcription factor 2' SubClassOf 'gene' + 'doublesex and mab-3 related transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'doublesex and mab-3 related transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'doublesex and mab-3 related transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263479 Label: Fuchs heterochromic iridocyclitis - 'Fuchs heterochromic iridocyclitis' SubClassOf 'disease' - 'Fuchs heterochromic iridocyclitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Fuchs heterochromic iridocyclitis' SubClassOf 'part_of' some 'Non-infectious anterior uveitis' + 'Fuchs heterochromic iridocyclitis' SubClassOf 'disease' + 'Fuchs heterochromic iridocyclitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fuchs heterochromic iridocyclitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Fuchs heterochromic iridocyclitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious anterior uveitis' + 'Fuchs heterochromic iridocyclitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_978 Label: ADULT syndrome - 'ADULT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'ADULT syndrome' SubClassOf 'malformation syndrome' - 'ADULT syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'ADULT syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'ADULT syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ADULT syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'ADULT syndrome' SubClassOf 'part_of' some 'EEC syndrome and related syndrome' - 'ADULT syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'ADULT syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'EEC syndrome and related syndrome' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'ADULT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'ADULT syndrome' SubClassOf 'malformation syndrome' + 'ADULT syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'ADULT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_139373 Label: Recessive hereditary methemoglobinemia type 1 - 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'part_of' some 'Hereditary methemoglobinemia' - 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'clinical subtype' - 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Recessive hereditary methemoglobinemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary methemoglobinemia' + 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'clinical subtype' + 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_168360 Label: lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) - 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'gene' - 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' Class: http://www.orpha.net/ORDO/Orphanet_977 Label: Adrenomyodystrophy - 'Adrenomyodystrophy' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Adrenomyodystrophy' SubClassOf 'disease' + 'Adrenomyodystrophy' SubClassOf 'disease' + 'Adrenomyodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_158684 Label: Epidermolysis bullosa simplex with pyloric atresia - 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_124051 Label: poly(A) binding protein, nuclear 1 - 'poly(A) binding protein, nuclear 1' SubClassOf 'gene' - 'poly(A) binding protein, nuclear 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculopharyngeal muscular dystrophy' + 'poly(A) binding protein, nuclear 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'poly(A) binding protein, nuclear 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculopharyngeal muscular dystrophy' + 'poly(A) binding protein, nuclear 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99741 Label: King-Denborough syndrome - 'King-Denborough syndrome' SubClassOf 'malformation syndrome' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Congenital myopathy' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'King-Denborough syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'King-Denborough syndrome' SubClassOf 'malformation syndrome' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_218436 Label: Rare cardiac rhythm disease - 'Rare cardiac rhythm disease' SubClassOf 'group of disorders' + 'Rare cardiac rhythm disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168362 Label: doublesex and mab-3 related transcription factor 1 - 'doublesex and mab-3 related transcription factor 1' SubClassOf 'gene' - 'doublesex and mab-3 related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'doublesex and mab-3 related transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'doublesex and mab-3 related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'doublesex and mab-3 related transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309271 Label: Metachromatic leukodystrophy, adult form - 'Metachromatic leukodystrophy, adult form' SubClassOf 'part_of' some 'Metachromatic leukodystrophy' - 'Metachromatic leukodystrophy, adult form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, adult form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metachromatic leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_984 Label: Pulmonary agenesis - 'Pulmonary agenesis' SubClassOf 'morphological anomaly' - 'Pulmonary agenesis' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Pulmonary agenesis' SubClassOf 'part_of' some 'Respiratory malformation' + 'Pulmonary agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Pulmonary agenesis' SubClassOf 'morphological anomaly' + 'Pulmonary agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_99739 Label: Rare familial disorder with hypertrophic cardiomyopathy - 'Rare familial disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Rare familial disorder with hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare familial disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99735 Label: Myotonia permanens - 'Myotonia permanens' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myotonia permanens' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myotonia permanens' SubClassOf 'disease' - 'Myotonia permanens' SubClassOf 'has_prevalence' some 'Unknown' - 'Myotonia permanens' SubClassOf 'part_of' some 'Potassium-aggravated myotonia' + 'Myotonia permanens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myotonia permanens' SubClassOf 'disease' + 'Myotonia permanens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Potassium-aggravated myotonia' + 'Myotonia permanens' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_980 Label: Absence of the pulmonary artery - 'Absence of the pulmonary artery' SubClassOf 'has_inheritance' some 'sporadic' - 'Absence of the pulmonary artery' SubClassOf 'has_prevalence' some 'Unknown' - 'Absence of the pulmonary artery' SubClassOf 'morphological anomaly' - 'Absence of the pulmonary artery' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Absence of the pulmonary artery' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' + 'Absence of the pulmonary artery' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Absence of the pulmonary artery' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Absence of the pulmonary artery' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Absence of the pulmonary artery' SubClassOf 'morphological anomaly' + 'Absence of the pulmonary artery' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_99736 Label: Acetazolamide-responsive myotonia - 'Acetazolamide-responsive myotonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acetazolamide-responsive myotonia' SubClassOf 'disease' - 'Acetazolamide-responsive myotonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acetazolamide-responsive myotonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acetazolamide-responsive myotonia' SubClassOf 'part_of' some 'Potassium-aggravated myotonia' + 'Acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Potassium-aggravated myotonia' + 'Acetazolamide-responsive myotonia' SubClassOf 'disease' + 'Acetazolamide-responsive myotonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acetazolamide-responsive myotonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acetazolamide-responsive myotonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_981 Label: Internal carotid agenesis - 'Internal carotid agenesis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Internal carotid agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Internal carotid agenesis' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Internal carotid agenesis' SubClassOf 'has_inheritance' some 'sporadic' - 'Internal carotid agenesis' SubClassOf 'morphological anomaly' - 'Internal carotid agenesis' SubClassOf 'part_of' some 'Vascular anomaly or angioma' + 'Internal carotid agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Internal carotid agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular anomaly or angioma' + 'Internal carotid agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Internal carotid agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Internal carotid agenesis' SubClassOf 'morphological anomaly' + 'Internal carotid agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_982 Label: Pulmonary valve agenesis - 'Pulmonary valve agenesis' SubClassOf 'group of disorders' - 'Pulmonary valve agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary valve agenesis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary valve agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pulmonary valve agenesis' SubClassOf 'group of disorders' + 'Pulmonary valve agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary valve agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pulmonary valve agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_983 Label: Testicular regression syndrome - 'Testicular regression syndrome' SubClassOf 'morphological anomaly' - 'Testicular regression syndrome' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - 'Testicular regression syndrome' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - 'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Testicular regression syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Testicular regression syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Testicular regression syndrome' SubClassOf 'morphological anomaly' + 'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Testicular regression syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Testicular regression syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + 'Testicular regression syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_79347 Label: Chondrodysplasia punctata, Toriello type - 'Chondrodysplasia punctata, Toriello type' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata' - 'Chondrodysplasia punctata, Toriello type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia punctata, Toriello type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia punctata, Toriello type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chondrodysplasia punctata, Toriello type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia punctata, Toriello type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_293311 Label: cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' + 'cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Multiple endocrine neoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_79346 Label: Chondrodysplasia punctata, tibial-metacarpal type - 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata' - 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'malformation syndrome' - 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-rhizomelic chondrodysplasia punctata' + 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_79345 Label: Brachytelephalangic chondrodysplasia punctata - 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata' - 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'part_of' some 'Other metabolic disease' - 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'malformation syndrome' - 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'malformation syndrome' + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_79344 Label: Autosomal dominant chondrodysplasia punctata - 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'malformation syndrome' - 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata' - 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'malformation syndrome' + 'Autosomal dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_169808 Label: Mild hemophilia A - 'Mild hemophilia A' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mild hemophilia A' SubClassOf 'clinical subtype' - 'Mild hemophilia A' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mild hemophilia A' SubClassOf 'part_of' some 'Hemophilia A' - 'Mild hemophilia A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mild hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mild hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mild hemophilia A' SubClassOf 'clinical subtype' + 'Mild hemophilia A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia A' + 'Mild hemophilia A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_122847 Label: kinesin family member 21A - 'kinesin family member 21A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' - 'kinesin family member 21A' SubClassOf 'gene' + 'kinesin family member 21A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' + 'kinesin family member 21A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 21A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_169805 Label: Moderately severe hemophilia A - 'Moderately severe hemophilia A' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Moderately severe hemophilia A' SubClassOf 'clinical subtype' - 'Moderately severe hemophilia A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Moderately severe hemophilia A' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Moderately severe hemophilia A' SubClassOf 'part_of' some 'Hemophilia A' + 'Moderately severe hemophilia A' SubClassOf 'clinical subtype' + 'Moderately severe hemophilia A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Moderately severe hemophilia A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia A' + 'Moderately severe hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Moderately severe hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1647 Label: Oculocerebrocutaneous syndrome - 'Oculocerebrocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocerebrocutaneous syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Oculocerebrocutaneous syndrome' SubClassOf 'malformation syndrome' - 'Oculocerebrocutaneous syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Oculocerebrocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocerebrocutaneous syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocerebrocutaneous syndrome' SubClassOf 'malformation syndrome' + 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Oculocerebrocutaneous syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_332459 Label: tumor necrosis factor (ligand) superfamily, member 12 - 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf 'gene' + 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Common variable immunodeficiency' + 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor (ligand) superfamily, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_1646 Label: Partial chromosome Y deletion - 'Partial chromosome Y deletion' SubClassOf 'part_of' some 'Chromosome Y structural anomaly' - 'Partial chromosome Y deletion' SubClassOf 'malformation syndrome' - 'Partial chromosome Y deletion' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Partial chromosome Y deletion' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder' - 'Partial chromosome Y deletion' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Partial chromosome Y deletion' SubClassOf 'has_inheritance' some 'sporadic' + 'Partial chromosome Y deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosome Y structural anomaly' + 'Partial chromosome Y deletion' SubClassOf 'malformation syndrome' + 'Partial chromosome Y deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with spermatogenesis disorder' + 'Partial chromosome Y deletion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial chromosome Y deletion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "41.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial chromosome Y deletion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Partial chromosome Y deletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409938 + 'Partial chromosome Y deletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_169826 Label: Congenital vitamin K-dependent coagulation factors deficiency - 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'group of disorders' + 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1643 Label: Xp22.3 microdeletion syndrome - 'Xp22.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome X' - 'Xp22.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Xp22.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome X' + 'Xp22.3 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309288 Label: Alpha-mannosidosis, adult form - 'Alpha-mannosidosis, adult form' SubClassOf 'part_of' some 'Alpha-mannosidosis' - 'Alpha-mannosidosis, adult form' SubClassOf 'clinical subtype' + 'Alpha-mannosidosis, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-mannosidosis' + 'Alpha-mannosidosis, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_307141 Label: Diffuse palmoplantar keratoderma - 'Diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1642 Label: Distal monosomy 9p - 'Distal monosomy 9p' SubClassOf 'malformation syndrome' - 'Distal monosomy 9p' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Distal monosomy 9p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 9' - 'Distal monosomy 9p' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Distal monosomy 9p' SubClassOf 'malformation syndrome' + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_122840 Label: kinesin family member 1B - 'kinesin family member 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' - 'kinesin family member 1B' SubClassOf 'gene' + 'kinesin family member 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' Class: http://www.orpha.net/ORDO/Orphanet_99734 Label: Myotonia fluctuans - 'Myotonia fluctuans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myotonia fluctuans' SubClassOf 'part_of' some 'Potassium-aggravated myotonia' - 'Myotonia fluctuans' SubClassOf 'disease' - 'Myotonia fluctuans' SubClassOf 'has_prevalence' some 'Unknown' - 'Myotonia fluctuans' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Myotonia fluctuans' SubClassOf 'disease' + 'Myotonia fluctuans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myotonia fluctuans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Potassium-aggravated myotonia' + 'Myotonia fluctuans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_124046 Label: purinergic receptor P2Y, G-protein coupled, 12 - 'purinergic receptor P2Y, G-protein coupled, 12' SubClassOf 'gene' - 'purinergic receptor P2Y, G-protein coupled, 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'P2Y12 defect' + 'purinergic receptor P2Y, G-protein coupled, 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'purinergic receptor P2Y, G-protein coupled, 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24-q25"^^http://www.w3.org/2001/XMLSchema#string + 'purinergic receptor P2Y, G-protein coupled, 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'P2Y12 defect' Class: http://www.orpha.net/ORDO/Orphanet_121390 Label: apolipoprotein E - 'apolipoprotein E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sea-blue histiocytosis' - 'apolipoprotein E' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 3' - 'apolipoprotein E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoprotein glomerulopathy' - 'apolipoprotein E' SubClassOf 'gene' + 'apolipoprotein E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.31"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sea-blue histiocytosis' + 'apolipoprotein E' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 3' + 'apolipoprotein E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoprotein glomerulopathy' + 'apolipoprotein E' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99732 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'clinical subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'part_of' some 'Encephalopathy due to sulfite oxidase deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'clinical subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephalopathy due to sulfite oxidase deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_139380 Label: Recessive hereditary methemoglobinemia type 2 - 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'part_of' some 'Hereditary methemoglobinemia' - 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'clinical subtype' - 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recessive hereditary methemoglobinemia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'clinical subtype' + 'Recessive hereditary methemoglobinemia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary methemoglobinemia' + 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_255210 Label: Maternally-inherited Leigh syndrome - 'Maternally-inherited Leigh syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Maternally-inherited Leigh syndrome' SubClassOf 'disease' - 'Maternally-inherited Leigh syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited Leigh syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited Leigh syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Maternally-inherited Leigh syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maternally-inherited Leigh syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Maternally-inherited Leigh syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Maternally-inherited Leigh syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited Leigh syndrome' SubClassOf 'disease' + 'Maternally-inherited Leigh syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99731 Label: Isolated sulfite oxidase deficiency - 'Isolated sulfite oxidase deficiency' SubClassOf 'part_of' some 'Encephalopathy due to sulfite oxidase deficiency' - 'Isolated sulfite oxidase deficiency' SubClassOf 'clinical subtype' + 'Isolated sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephalopathy due to sulfite oxidase deficiency' + 'Isolated sulfite oxidase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121393 Label: amyloid beta (A4) precursor protein - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' - 'amyloid beta (A4) precursor protein' SubClassOf 'gene' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' - 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' + 'amyloid beta (A4) precursor protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' + 'amyloid beta (A4) precursor protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amyloid beta (A4) precursor protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' Class: http://www.orpha.net/ORDO/Orphanet_309282 Label: Alpha-mannosidosis, infantile form - 'Alpha-mannosidosis, infantile form' SubClassOf 'part_of' some 'Alpha-mannosidosis' - 'Alpha-mannosidosis, infantile form' SubClassOf 'clinical subtype' + 'Alpha-mannosidosis, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-mannosidosis' + 'Alpha-mannosidosis, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_124042 Label: 3-oxoacid CoA transferase 1 - '3-oxoacid CoA transferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' - '3-oxoacid CoA transferase 1' SubClassOf 'gene' + '3-oxoacid CoA transferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '3-oxoacid CoA transferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13"^^http://www.w3.org/2001/XMLSchema#string + '3-oxoacid CoA transferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_989 Label: Hypoglossia - hypodactyly - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Oromandibular-limb hypogenesis syndrome' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Hypoglossia - hypodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Hypoglossia - hypodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoglossia - hypodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoglossia - hypodactyly' SubClassOf 'malformation syndrome' - 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oromandibular-limb hypogenesis syndrome' + 'Hypoglossia - hypodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypoglossia - hypodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoglossia - hypodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Hypoglossia - hypodactyly' SubClassOf 'malformation syndrome' + 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypoglossia - hypodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_171723 Label: White sponge nevus - 'White sponge nevus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'White sponge nevus' SubClassOf 'part_of' some 'Genetic skin tumor' - 'White sponge nevus' SubClassOf 'part_of' some 'Rare nevus' - 'White sponge nevus' SubClassOf 'disease' + 'White sponge nevus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'White sponge nevus' SubClassOf 'disease' + 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_263463 Label: CHST3-related skeletal dysplasia - 'CHST3-related skeletal dysplasia' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'CHST3-related skeletal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'CHST3-related skeletal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CHST3-related skeletal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CHST3-related skeletal dysplasia' SubClassOf 'disease' - 'CHST3-related skeletal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CHST3-related skeletal dysplasia' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'CHST3-related skeletal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CHST3-related skeletal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CHST3-related skeletal dysplasia' SubClassOf 'disease' + 'CHST3-related skeletal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'CHST3-related skeletal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_988 Label: Absent tibia - polydactyly - 'Absent tibia - polydactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Absent tibia - polydactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Absent tibia - polydactyly' SubClassOf 'malformation syndrome' + 'Absent tibia - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Absent tibia - polydactyly' SubClassOf 'malformation syndrome' + 'Absent tibia - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_124040 Label: orthodenticle homeobox 2 - 'orthodenticle homeobox 2' SubClassOf 'gene' - 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic microphthalmia type 5' - 'orthodenticle homeobox 2' SubClassOf 'Modifying germline mutation in' some 'Agnathia - holoprosencephaly - situs inversus' - 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' - 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic microphthalmia type 5' + 'orthodenticle homeobox 2' SubClassOf 'Modifying germline mutation in' some 'Agnathia - holoprosencephaly - situs inversus' + 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'orthodenticle homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'orthodenticle homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'orthodenticle homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_998 Label: Albinism-deafness syndrome - 'Albinism-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Albinism-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Albinism-deafness syndrome' SubClassOf 'malformation syndrome' - 'Albinism-deafness syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Albinism-deafness syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Albinism-deafness syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Albinism-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Albinism-deafness syndrome' SubClassOf 'malformation syndrome' + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Albinism-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Albinism-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Albinism-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79330 Label: GCS1-CDG - 'GCS1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GCS1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GCS1-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'GCS1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'GCS1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GCS1-CDG' SubClassOf 'disease' - 'GCS1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'GCS1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'GCS1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GCS1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'GCS1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GCS1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'GCS1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'GCS1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GCS1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_994 Label: Fetal akinesia deformation sequence - 'Fetal akinesia deformation sequence' SubClassOf 'has_prevalence' some 'Unknown' - 'Fetal akinesia deformation sequence' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fetal akinesia deformation sequence' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fetal akinesia deformation sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal akinesia deformation sequence' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Fetal akinesia deformation sequence' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Fetal akinesia deformation sequence' SubClassOf 'malformation syndrome' - 'Fetal akinesia deformation sequence' SubClassOf 'part_of' some 'Thoracic malformation' - 'Fetal akinesia deformation sequence' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Fetal akinesia deformation sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fetal akinesia deformation sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal akinesia deformation sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fetal akinesia deformation sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Fetal akinesia deformation sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fetal akinesia deformation sequence' SubClassOf 'malformation syndrome' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_991 Label: PAGOD syndrome - 'PAGOD syndrome' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' - 'PAGOD syndrome' SubClassOf 'malformation syndrome' - 'PAGOD syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'PAGOD syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PAGOD syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'PAGOD syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PAGOD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PAGOD syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'PAGOD syndrome' SubClassOf 'malformation syndrome' + 'PAGOD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_79332 Label: B4GALT1-CDG - 'B4GALT1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'B4GALT1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'B4GALT1-CDG' SubClassOf 'disease' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'B4GALT1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'B4GALT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'B4GALT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'B4GALT1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'B4GALT1-CDG' SubClassOf 'disease' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'B4GALT1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'B4GALT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_99725 Label: Pituitary gigantism - 'Pituitary gigantism' SubClassOf 'part_of' some 'Somatotropic adenoma' - 'Pituitary gigantism' SubClassOf 'disease' + 'Pituitary gigantism' SubClassOf 'disease' + 'Pituitary gigantism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Somatotropic adenoma' Class: http://www.orpha.net/ORDO/Orphanet_990 Label: Agnathia - holoprosencephaly - situs inversus - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_inheritance' some 'sporadic' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'malformation syndrome' + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'malformation syndrome' + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79333 Label: COG7-CDG - 'COG7-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COG7-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' - 'COG7-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'COG7-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG7-CDG' SubClassOf 'disease' - 'COG7-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'COG7-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'COG7-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG7-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'COG7-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'COG7-CDG' SubClassOf 'disease' + 'COG7-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'COG7-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_307148 Label: Isolated diffuse palmoplantar keratoderma - 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122838 Label: KIAA2022 - 'KIAA2022' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cantagrel type' - 'KIAA2022' SubClassOf 'gene' + 'KIAA2022' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cantagrel type' + 'KIAA2022' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA2022' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_158661 Label: Suprabasal epidermolysis bullosa simplex - 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'group of disorders' + 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_206564 Label: Autosomal recessive limb-girdle muscular dystrophy type 2O - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_124033 Label: ornithine carbamoyltransferase - 'ornithine carbamoyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ornithine transcarbamylase deficiency' - 'ornithine carbamoyltransferase' SubClassOf 'gene' + 'ornithine carbamoyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ornithine transcarbamylase deficiency' + 'ornithine carbamoyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ornithine carbamoyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1671 Label: Diastematomyelia - 'Diastematomyelia' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Diastematomyelia' SubClassOf 'morphological anomaly' + 'Diastematomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Diastematomyelia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1672 Label: Diencephalic syndrome - 'Diencephalic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Diencephalic syndrome' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Diencephalic syndrome' SubClassOf 'disease' - 'Diencephalic syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Diencephalic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Diencephalic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Diencephalic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' + 'Diencephalic syndrome' SubClassOf 'disease' + 'Diencephalic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Diencephalic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_168342 Label: ribosomal protein S14 - 'ribosomal protein S14' SubClassOf 'gene' - 'ribosomal protein S14' SubClassOf 'Role in the phenotype of' some 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' + 'ribosomal protein S14' SubClassOf 'Role in the phenotype of' some 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' + 'ribosomal protein S14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124035 Label: otoferlin - 'otoferlin' SubClassOf 'gene' - 'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'otoferlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'otoferlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_206569 Label: Autoimmune necrotizing myopathy - 'Autoimmune necrotizing myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoimmune necrotizing myopathy' SubClassOf 'disease' - 'Autoimmune necrotizing myopathy' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Autoimmune necrotizing myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autoimmune necrotizing myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Autoimmune necrotizing myopathy' SubClassOf 'disease' + 'Autoimmune necrotizing myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoimmune necrotizing myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autoimmune necrotizing myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1670 Label: Chronic diarrhea with villous atrophy - 'Chronic diarrhea with villous atrophy' SubClassOf 'disease' - 'Chronic diarrhea with villous atrophy' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Chronic diarrhea with villous atrophy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Chronic diarrhea with villous atrophy' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Chronic diarrhea with villous atrophy' SubClassOf 'disease' + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_159716 Label: homeobox A2 - 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral microtia - deafness - cleft palate' - 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microtia' - 'homeobox A2' SubClassOf 'gene' - 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anotia' + 'homeobox A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral microtia - deafness - cleft palate' + 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microtia' + 'homeobox A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'homeobox A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anotia' Class: http://www.orpha.net/ORDO/Orphanet_1675 Label: Dihydropyrimidine dehydrogenase deficiency - 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'disease' - 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' + 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'disease' + 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_168345 Label: insulin - 'insulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'insulin' SubClassOf 'gene' - 'insulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'insulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'insulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'insulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'insulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83330 Label: Proximal spinal muscular atrophy type 1 - 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proximal spinal muscular atrophy type 1' SubClassOf 'part_of' some 'Proximal spinal muscular atrophy' - 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Proximal spinal muscular atrophy type 1' SubClassOf 'clinical subtype' + 'Proximal spinal muscular atrophy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proximal spinal muscular atrophy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal spinal muscular atrophy' + 'Proximal spinal muscular atrophy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy type 1' SubClassOf 'clinical subtype' + 'Proximal spinal muscular atrophy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1676 Label: Idiopathic pulmonary artery dilatation - 'Idiopathic pulmonary artery dilatation' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Idiopathic pulmonary artery dilatation' SubClassOf 'disease' + 'Idiopathic pulmonary artery dilatation' SubClassOf 'disease' + 'Idiopathic pulmonary artery dilatation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_168347 Label: thyroglobulin - 'thyroglobulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' - 'thyroglobulin' SubClassOf 'gene' + 'thyroglobulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'thyroglobulin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'thyroglobulin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309256 Label: Metachromatic leukodystrophy, late infantile form - 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'part_of' some 'Metachromatic leukodystrophy' - 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, late infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metachromatic leukodystrophy' + 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_287069 Label: bone morphogenetic protein 1 - 'bone morphogenetic protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'bone morphogenetic protein 1' SubClassOf 'gene' + 'bone morphogenetic protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'bone morphogenetic protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1679 Label: Diphtheria - 'Diphtheria' SubClassOf 'disease' - 'Diphtheria' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Diphtheria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Diphtheria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_158665 Label: Basal epidermolysis bullosa simplex - 'Basal epidermolysis bullosa simplex' SubClassOf 'group of disorders' + 'Basal epidermolysis bullosa simplex' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158668 Label: Epidermolysis bullosa simplex due to plakophilin deficiency - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'part_of' some 'Suprabasal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'disease' + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Suprabasal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'disease' + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1677 Label: Familial idiopathic dilatation of the right atrium - 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial idiopathic dilatation of the right atrium' SubClassOf 'morphological anomaly' - 'Familial idiopathic dilatation of the right atrium' SubClassOf 'part_of' some 'Rare genetic cardiac disease' - 'Familial idiopathic dilatation of the right atrium' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' + 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Familial idiopathic dilatation of the right atrium' SubClassOf 'morphological anomaly' + 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_309252 Label: Atypical Gaucher disease due to saposin C deficiency - 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'clinical subtype' - 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'part_of' some 'Gaucher disease' + 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'clinical subtype' + 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_313838 Label: Coats plus syndrome - 'Coats plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Coats plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Coats plus syndrome' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Coats plus syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Coats plus syndrome' SubClassOf 'disease' - 'Coats plus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coats plus syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Coats plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Coats plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Coats plus syndrome' SubClassOf 'disease' + 'Coats plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_313834 Label: centrosomal protein 164kDa - 'centrosomal protein 164kDa' SubClassOf 'gene' - 'centrosomal protein 164kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' + 'centrosomal protein 164kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 164kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 164kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Senior-Loken syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159708 Label: H6 family homeobox 1 - 'H6 family homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculoauricular syndrome, Schorderet type' - 'H6 family homeobox 1' SubClassOf 'gene' + 'H6 family homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'H6 family homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculoauricular syndrome, Schorderet type' + 'H6 family homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293375 Label: Grayson-Wilbrandt corneal dystrophy - 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'disease' - 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'disease' + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_206554 Label: Autosomal recessive limb-girdle muscular dystrophy type 2M - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Qualitative or quantitative defects of fukutin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of fukutin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_124021 Label: optineurin - 'optineurin' SubClassOf 'gene' - 'optineurin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'optineurin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p14"^^http://www.w3.org/2001/XMLSchema#string + 'optineurin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'optineurin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_168351 Label: RNA binding motif protein, Y-linked, family 1, member A1 - 'RNA binding motif protein, Y-linked, family 1, member A1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'RNA binding motif protein, Y-linked, family 1, member A1' SubClassOf 'gene' + 'RNA binding motif protein, Y-linked, family 1, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.23"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein, Y-linked, family 1, member A1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'RNA binding motif protein, Y-linked, family 1, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158673 Label: Acral dystrophic epidermolysis bullosa - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'disease' - 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acral dystrophic epidermolysis bullosa' SubClassOf 'disease' + 'Acral dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acral dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Acral dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1660 Label: Dermo-odonto dysplasia - 'Dermo-odonto dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dermo-odonto dysplasia' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Dermo-odonto dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dermo-odonto dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dermo-odonto dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dermo-odonto dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Dermo-odonto dysplasia' SubClassOf 'malformation syndrome' + 'Dermo-odonto dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dermo-odonto dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dermo-odonto dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Dermo-odonto dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dermo-odonto dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Dermo-odonto dysplasia' SubClassOf 'malformation syndrome' + 'Dermo-odonto dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1661 Label: X-linked corneal dermoid - 'X-linked corneal dermoid' SubClassOf 'disease' - 'X-linked corneal dermoid' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'X-linked corneal dermoid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'X-linked corneal dermoid' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159725 Label: intercellular adhesion molecule 1 - 'intercellular adhesion molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'intercellular adhesion molecule 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1662 Label: Lethal restrictive dermopathy - 'Lethal restrictive dermopathy' SubClassOf 'disease' - 'Lethal restrictive dermopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lethal restrictive dermopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal restrictive dermopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal restrictive dermopathy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Lethal restrictive dermopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal restrictive dermopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Lethal restrictive dermopathy' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' + 'Lethal restrictive dermopathy' SubClassOf 'disease' + 'Lethal restrictive dermopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Lethal restrictive dermopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Lethal restrictive dermopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Lethal restrictive dermopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal restrictive dermopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_124029 Label: osteopetrosis associated transmembrane protein 1 - 'osteopetrosis associated transmembrane protein 1' SubClassOf 'gene' - 'osteopetrosis associated transmembrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile osteopetrosis with neuroaxonal dysplasia' + 'osteopetrosis associated transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'osteopetrosis associated transmembrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile osteopetrosis with neuroaxonal dysplasia' + 'osteopetrosis associated transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_206559 Label: Autosomal recessive limb-girdle muscular dystrophy type 2N - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1666 Label: Dextrocardia - 'Dextrocardia' SubClassOf 'part_of' some 'Heterotaxia' - 'Dextrocardia' SubClassOf 'morphological anomaly' + 'Dextrocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' + 'Dextrocardia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_309263 Label: Metachromatic leukodystrophy, juvenile form - 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'part_of' some 'Metachromatic leukodystrophy' - 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, juvenile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metachromatic leukodystrophy' + 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1667 Label: Wolcott-Rallison syndrome - 'Wolcott-Rallison syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wolcott-Rallison syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Wolcott-Rallison syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Wolcott-Rallison syndrome' SubClassOf 'disease' - 'Wolcott-Rallison syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wolcott-Rallison syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wolcott-Rallison syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Wolcott-Rallison syndrome' SubClassOf 'disease' + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Wolcott-Rallison syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wolcott-Rallison syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wolcott-Rallison syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Wolcott-Rallison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_159723 Label: hydatidiform mole associated and imprinted (non-protein coding) - 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' - 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 6' - 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'gene' + 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' + 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_158676 Label: Dystrophic epidermolysis bullosa, nails only - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'disease' - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'disease' + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_313846 Label: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'disease' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'disease' + 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_65684 Label: Monomelic amyotrophy - 'Monomelic amyotrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Monomelic amyotrophy' SubClassOf 'disease' - 'Monomelic amyotrophy' SubClassOf 'part_of' some 'Acquired motor neuron disease' - 'Monomelic amyotrophy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Monomelic amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired motor neuron disease' + 'Monomelic amyotrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Monomelic amyotrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Monomelic amyotrophy' SubClassOf 'disease' + 'Monomelic amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_48736 Label: Embryonal carcinoma of the central nervous system - 'Embryonal carcinoma of the central nervous system' SubClassOf 'clinical subtype' - 'Embryonal carcinoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Embryonal carcinoma of the central nervous system' SubClassOf 'part_of' some 'Embryonal carcinoma' + 'Embryonal carcinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Embryonal carcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal carcinoma' + 'Embryonal carcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_65682 Label: Benign recurrent intrahepatic cholestasis - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'part_of' some 'Familial intrahepatic cholestasis' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'disease' - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Benign recurrent intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' + 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Benign recurrent intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial intrahepatic cholestasis' + 'Benign recurrent intrahepatic cholestasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign recurrent intrahepatic cholestasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65683 Label: Isolated focal cortical dysplasia - 'Isolated focal cortical dysplasia' SubClassOf 'disease' - 'Isolated focal cortical dysplasia' SubClassOf 'part_of' some 'Cerebral cortical dysplasia' + 'Isolated focal cortical dysplasia' SubClassOf 'disease' + 'Isolated focal cortical dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_65681 Label: Vaginal atresia - 'Vaginal atresia' SubClassOf 'morphological anomaly' - 'Vaginal atresia' SubClassOf 'has_prevalence' some 'Unknown' - 'Vaginal atresia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Vaginal atresia' SubClassOf 'part_of' some 'Rare vaginal malformation' - 'Vaginal atresia' SubClassOf 'has_inheritance' some 'sporadic' + 'Vaginal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Vaginal atresia' SubClassOf 'morphological anomaly' + 'Vaginal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vaginal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_3096 Label: Reye syndrome - 'Reye syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'Reye syndrome' SubClassOf 'disease' + 'Reye syndrome' SubClassOf 'disease' + 'Reye syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_3095 Label: Atypical Rett syndrome - 'Atypical Rett syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Atypical Rett syndrome' SubClassOf 'part_of' some 'Motor stereotypies' - 'Atypical Rett syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atypical Rett syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Atypical Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical Rett syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Atypical Rett syndrome' SubClassOf 'disease' - 'Atypical Rett syndrome' SubClassOf 'part_of' some 'Rare pervasive developmental disorder' - 'Atypical Rett syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Atypical Rett syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atypical Rett syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor stereotypies' + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pervasive developmental disorder' + 'Atypical Rett syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Atypical Rett syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atypical Rett syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124012 Label: opsin 1 (cone pigments), medium-wave-sensitive - 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blue cone monochromatism' - 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf 'gene' - 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blue cone monochromatism' + 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'opsin 1 (cone pigments), medium-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3098 Label: Rhizomelic syndrome, Urbach type - 'Rhizomelic syndrome, Urbach type' SubClassOf 'malformation syndrome' - 'Rhizomelic syndrome, Urbach type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Rhizomelic syndrome, Urbach type' SubClassOf 'malformation syndrome' + 'Rhizomelic syndrome, Urbach type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99701 Label: Mesial temporal lobe epilepsy with hippocampal sclerosis - 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'disease' + 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3097 Label: Meacham syndrome - 'Meacham syndrome' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Meacham syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Meacham syndrome' SubClassOf 'malformation syndrome' - 'Meacham syndrome' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Meacham syndrome' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Meacham syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Meacham syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Meacham syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Meacham syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Meacham syndrome' SubClassOf 'malformation syndrome' + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_168322 Label: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 - 'Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6' SubClassOf 'gene' - 'Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string + 'Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1692 Label: Mosaic trisomy 1 - 'Mosaic trisomy 1' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 1' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 1' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_206546 Label: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'disease' - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'part_of' some 'Duchenne and Becker muscular dystrophy' + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'disease' + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duchenne and Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_255241 Label: Leigh syndrome with leukodystrophy - 'Leigh syndrome with leukodystrophy' SubClassOf 'part_of' some 'Leigh syndrome' - 'Leigh syndrome with leukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leigh syndrome with leukodystrophy' SubClassOf 'disease' - 'Leigh syndrome with leukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Leigh syndrome with leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leigh syndrome' + 'Leigh syndrome with leukodystrophy' SubClassOf 'disease' + 'Leigh syndrome with leukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leigh syndrome with leukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leigh syndrome with leukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3099 Label: Rheumatic fever - 'Rheumatic fever' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rheumatic fever' SubClassOf 'part_of' some 'Rare systemic disease' - 'Rheumatic fever' SubClassOf 'disease' - 'Rheumatic fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Rheumatic fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C032 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf 'disease' + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rheumatic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C032 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_280586 Label: Chondrodysplasia with joint dislocations, gPAPP type - 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'malformation syndrome' - 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_313808 Label: Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia - 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'disease' - 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1699 Label: Trisomy 12p - 'Trisomy 12p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' - 'Trisomy 12p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trisomy 12p' SubClassOf 'malformation syndrome' - 'Trisomy 12p' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 12p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Trisomy 12p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 12p' SubClassOf 'malformation syndrome' + 'Trisomy 12p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' + 'Trisomy 12p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 12p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_208989 Label: Non-paraneoplastic sensory ganglionopathy - 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' + 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_255249 Label: Leigh syndrome with nephrotic syndrome - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Leigh syndrome' + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease' + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206549 Label: Autosomal recessive limb-girdle muscular dystrophy type 2L - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'part_of' some 'Qualitative or quantitative defects of fukutin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of fukutin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1698 Label: Mosaic trisomy 12 - 'Mosaic trisomy 12' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 12' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 12' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1695 Label: Non-distal trisomy 10q - 'Non-distal trisomy 10q' SubClassOf 'malformation syndrome' - 'Non-distal trisomy 10q' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Non-distal trisomy 10q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 10' + 'Non-distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Non-distal trisomy 10q' SubClassOf 'malformation syndrome' + 'Non-distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_124018 Label: opsin 1 (cone pigments), short-wave-sensitive - 'opsin 1 (cone pigments), short-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tritanopia' - 'opsin 1 (cone pigments), short-wave-sensitive' SubClassOf 'gene' + 'opsin 1 (cone pigments), short-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tritanopia' + 'opsin 1 (cone pigments), short-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'opsin 1 (cone pigments), short-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.3-q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_208984 Label: Acquired sensory ganglionopathy - 'Acquired sensory ganglionopathy' SubClassOf 'group of disorders' + 'Acquired sensory ganglionopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79302 Label: Congenital bile acid synthesis defect type 3 - 'Congenital bile acid synthesis defect type 3' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Congenital bile acid synthesis defect type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital bile acid synthesis defect type 3' SubClassOf 'disease' - 'Congenital bile acid synthesis defect type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital bile acid synthesis defect type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Congenital bile acid synthesis defect type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital bile acid synthesis defect type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital bile acid synthesis defect type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital bile acid synthesis defect type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_46488 Label: Linear IgA dermatosis - 'Linear IgA dermatosis' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Linear IgA dermatosis' SubClassOf 'disease' + 'Linear IgA dermatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410110) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.069"^^http://www.w3.org/2001/XMLSchema#string) + 'Linear IgA dermatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.026"^^http://www.w3.org/2001/XMLSchema#string) + 'Linear IgA dermatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Linear IgA dermatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Linear IgA dermatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79303 Label: Congenital bile acid synthesis defect type 2 - 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital bile acid synthesis defect type 2' SubClassOf 'disease' - 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital bile acid synthesis defect type 2' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital bile acid synthesis defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital bile acid synthesis defect type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Congenital bile acid synthesis defect type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_46487 Label: Acquired epidermolysis bullosa - 'Acquired epidermolysis bullosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired epidermolysis bullosa' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired epidermolysis bullosa' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Acquired epidermolysis bullosa' SubClassOf 'disease' + 'Acquired epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Acquired epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired epidermolysis bullosa' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293355 Label: Methylmalonic acidemia without homocystinuria - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'group of disorders' - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'group of disorders' + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic acidemia without homocystinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_122808 Label: potassium voltage-gated channel, KQT-like subfamily, member 2 - 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'gene' - 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' - 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal-infantile seizures' - 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal seizures' + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal-infantile seizures' + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' + 'potassium voltage-gated channel, KQT-like subfamily, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial neonatal seizures' Class: http://www.orpha.net/ORDO/Orphanet_79301 Label: Congenital bile acid synthesis defect type 1 - 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bile acid synthesis defect type 1' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital bile acid synthesis defect type 1' SubClassOf 'disease' - 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital bile acid synthesis defect type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Congenital bile acid synthesis defect type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital bile acid synthesis defect type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_46489 Label: Bullous systemic lupus erythematosus - 'Bullous systemic lupus erythematosus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bullous systemic lupus erythematosus' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Bullous systemic lupus erythematosus' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Bullous systemic lupus erythematosus' SubClassOf 'has_inheritance' some 'sporadic' - 'Bullous systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bullous systemic lupus erythematosus' SubClassOf 'disease' - 'Bullous systemic lupus erythematosus' SubClassOf 'part_of' some 'Acute cutaneous lupus erythematosus' + 'Bullous systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Bullous systemic lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bullous systemic lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bullous systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Bullous systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Bullous systemic lupus erythematosus' SubClassOf 'disease' + 'Bullous systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_309239 Label: Tay-Sachs disease, B1 variant - 'Tay-Sachs disease, B1 variant' SubClassOf 'clinical subtype' - 'Tay-Sachs disease, B1 variant' SubClassOf 'part_of' some 'Tay-Sachs disease' + 'Tay-Sachs disease, B1 variant' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B1 variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_280591 Label: inositol monophosphatase domain containing 1 - 'inositol monophosphatase domain containing 1' SubClassOf 'gene' - 'inositol monophosphatase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catel-Manzke syndrome' - 'inositol monophosphatase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia with joint dislocations, gPAPP type' + 'inositol monophosphatase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Catel-Manzke syndrome' + 'inositol monophosphatase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'inositol monophosphatase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia with joint dislocations, gPAPP type' + 'inositol monophosphatase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_208981 Label: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'disease' - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'part_of' some 'Chronic polyradiculoneuropathy' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'disease' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic polyradiculoneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79306 Label: Progressive familial intrahepatic cholestasis type 1 - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'part_of' some 'Progressive familial intrahepatic cholestasis' - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive familial intrahepatic cholestasis' + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_79304 Label: Progressive familial intrahepatic cholestasis type 2 - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'part_of' some 'Progressive familial intrahepatic cholestasis' - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_79305 Label: Progressive familial intrahepatic cholestasis type 3 - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'clinical subtype' - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'part_of' some 'Progressive familial intrahepatic cholestasis' - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive familial intrahepatic cholestasis' + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3090 Label: Congenital pulmonary venous return anomaly - 'Congenital pulmonary venous return anomaly' SubClassOf 'group of disorders' + 'Congenital pulmonary venous return anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_46484 Label: Oligodendroglial tumor - 'Oligodendroglial tumor' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Oligodendroglial tumor' SubClassOf 'group of disorders' - 'Oligodendroglial tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Oligodendroglial tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Oligodendroglial tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Oligodendroglial tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Oligodendroglial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Oligodendroglial tumor' SubClassOf 'group of disorders' + 'Oligodendroglial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oligodendroglial tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3091 Label: Congenital systemic veins anomaly - 'Congenital systemic veins anomaly' SubClassOf 'group of disorders' + 'Congenital systemic veins anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3092 Label: Fixed subaortic stenosis - 'Fixed subaortic stenosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fixed subaortic stenosis' SubClassOf 'part_of' some 'Aortic malformation' - 'Fixed subaortic stenosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Fixed subaortic stenosis' SubClassOf 'morphological anomaly' + 'Fixed subaortic stenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fixed subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Fixed subaortic stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_46486 Label: Mucous membrane pemphigoid - 'Mucous membrane pemphigoid' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucous membrane pemphigoid' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mucous membrane pemphigoid' SubClassOf 'disease' - 'Mucous membrane pemphigoid' SubClassOf 'part_of' some 'Autoimmune bullous skin disease' - 'Mucous membrane pemphigoid' SubClassOf 'has_inheritance' some 'sporadic' + 'Mucous membrane pemphigoid' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mucous membrane pemphigoid' SubClassOf 'disease' + 'Mucous membrane pemphigoid' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mucous membrane pemphigoid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune bullous skin disease' + 'Mucous membrane pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Mucous membrane pemphigoid' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3093 Label: Congenital aortic valve stenosis - 'Congenital aortic valve stenosis' SubClassOf 'morphological anomaly' - 'Congenital aortic valve stenosis' SubClassOf 'part_of' some 'Ascending aorta anomaly' - 'Congenital aortic valve stenosis' SubClassOf 'part_of' some 'Aortic malformation' + 'Congenital aortic valve stenosis' SubClassOf 'morphological anomaly' + 'Congenital aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Congenital aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' Class: http://www.orpha.net/ORDO/Orphanet_46485 Label: Superficial pemphigus - 'Superficial pemphigus' SubClassOf 'group of disorders' - 'Superficial pemphigus' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Superficial pemphigus' SubClassOf 'has_inheritance' some 'sporadic' - 'Superficial pemphigus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Superficial pemphigus' SubClassOf 'group of disorders' + 'Superficial pemphigus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Superficial pemphigus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Superficial pemphigus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3087 Label: Retinohepatoendocrinologic syndrome - 'Retinohepatoendocrinologic syndrome' SubClassOf 'malformation syndrome' - 'Retinohepatoendocrinologic syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Retinohepatoendocrinologic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Retinohepatoendocrinologic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Retinohepatoendocrinologic syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' + 'Retinohepatoendocrinologic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Retinohepatoendocrinologic syndrome' SubClassOf 'malformation syndrome' + 'Retinohepatoendocrinologic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Retinohepatoendocrinologic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Retinohepatoendocrinologic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Retinohepatoendocrinologic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1680 Label: Spastic diplegia, infantile type - 'Spastic diplegia, infantile type' SubClassOf 'disease' - 'Spastic diplegia, infantile type' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Spastic diplegia, infantile type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Spastic diplegia, infantile type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3086 Label: Autosomal dominant vitreoretinochoroidopathy - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'disease' + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124003 Label: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) - 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy and cataract' - 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf 'gene' - 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' + 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy and cataract' + 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' + 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3085 Label: Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'malformation syndrome' - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'malformation syndrome' + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_1682 Label: Arterial dissection - lentiginosis - 'Arterial dissection - lentiginosis' SubClassOf 'part_of' some 'Rare vascular disease' - 'Arterial dissection - lentiginosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Arterial dissection - lentiginosis' SubClassOf 'malformation syndrome' - 'Arterial dissection - lentiginosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Arterial dissection - lentiginosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arterial dissection - lentiginosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular disease' + 'Arterial dissection - lentiginosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arterial dissection - lentiginosis' SubClassOf 'malformation syndrome' + 'Arterial dissection - lentiginosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3088 Label: Retinopathy - anemia- central nervous system anomalies - 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'malformation syndrome' - 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'malformation syndrome' + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_208978 Label: Chronic polyradiculoneuropathy - 'Chronic polyradiculoneuropathy' SubClassOf 'group of disorders' + 'Chronic polyradiculoneuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159700 Label: angiogenin, ribonuclease, RNase A family, 5 - 'angiogenin, ribonuclease, RNase A family, 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'angiogenin, ribonuclease, RNase A family, 5' SubClassOf 'gene' + 'angiogenin, ribonuclease, RNase A family, 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'angiogenin, ribonuclease, RNase A family, 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiogenin, ribonuclease, RNase A family, 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.1-q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122800 Label: potassium voltage-gated channel, KQT-like subfamily, member 1 - 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jervell and Lange-Nielsen syndrome' - 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' - 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'gene' + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jervell and Lange-Nielsen syndrome' + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial short QT syndrome' + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial atrial fibrillation' + 'potassium voltage-gated channel, KQT-like subfamily, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280598 Label: Hereditary sensorimotor neuropathy with hyperelastic skin - 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' - 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'disease' - 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168339 Label: protocadherin 19 - 'protocadherin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'protocadherin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Female restricted epilepsy with intellectual disability' - 'protocadherin 19' SubClassOf 'gene' + 'protocadherin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'protocadherin 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.1"^^http://www.w3.org/2001/XMLSchema#string + 'protocadherin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Female restricted epilepsy with intellectual disability' + 'protocadherin 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309246 Label: GM2-gangliosidosis, AB variant - 'GM2-gangliosidosis, AB variant' SubClassOf 'disease' - 'GM2-gangliosidosis, AB variant' SubClassOf 'part_of' some 'GM2 gangliosidosis' + 'GM2-gangliosidosis, AB variant' SubClassOf 'disease' + 'GM2-gangliosidosis, AB variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'GM2 gangliosidosis' Class: http://www.orpha.net/ORDO/Orphanet_159703 Label: 3-hydroxyisobutyryl-CoA hydrolase - '3-hydroxyisobutyryl-CoA hydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' - '3-hydroxyisobutyryl-CoA hydrolase' SubClassOf 'gene' + '3-hydroxyisobutyryl-CoA hydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '3-hydroxyisobutyryl-CoA hydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' + '3-hydroxyisobutyryl-CoA hydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_208974 Label: Chronic acquired demyelinating polyneuropathy - 'Chronic acquired demyelinating polyneuropathy' SubClassOf 'group of disorders' + 'Chronic acquired demyelinating polyneuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124007 Label: opsin 1 (cone pigments), long-wave-sensitive - 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blue cone monochromatism' - 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf 'gene' + 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blue cone monochromatism' + 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'opsin 1 (cone pigments), long-wave-sensitive' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1685 Label: Distomatosis - 'Distomatosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Distomatosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Distomatosis' SubClassOf 'disease' - 'Distomatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Distomatosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Distomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Distomatosis' SubClassOf 'disease' + 'Distomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_159705 Label: hepatic leukemia factor - 'hepatic leukemia factor' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'hepatic leukemia factor' SubClassOf 'gene' + 'hepatic leukemia factor' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'hepatic leukemia factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22"^^http://www.w3.org/2001/XMLSchema#string + 'hepatic leukemia factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1686 Label: Cardiac diverticulum - 'Cardiac diverticulum' SubClassOf 'part_of' some 'Congenital heart malformation' - 'Cardiac diverticulum' SubClassOf 'morphological anomaly' - 'Cardiac diverticulum' SubClassOf 'has_inheritance' some 'sporadic' - 'Cardiac diverticulum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cardiac diverticulum' SubClassOf 'has_prevalence' some 'Unknown' + 'Cardiac diverticulum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cardiac diverticulum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cardiac diverticulum' SubClassOf 'morphological anomaly' + 'Cardiac diverticulum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital heart malformation' + 'Cardiac diverticulum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_206538 Label: Malignant nondysgerminomatous germ cell tumor - 'Malignant nondysgerminomatous germ cell tumor' SubClassOf 'disease' - 'Malignant nondysgerminomatous germ cell tumor' SubClassOf 'part_of' some 'Malignant germ cell tumor of ovary' + 'Malignant nondysgerminomatous germ cell tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malignant nondysgerminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant germ cell tumor of ovary' + 'Malignant nondysgerminomatous germ cell tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Malignant nondysgerminomatous germ cell tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168335 Label: zinc finger protein 81 - 'zinc finger protein 81' SubClassOf 'gene' - 'zinc finger protein 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_313822 Label: zinc finger protein 423 - 'zinc finger protein 423' SubClassOf 'gene' - 'zinc finger protein 423' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'zinc finger protein 423' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 423' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 423' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_292297 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'intellectual disability - sparse hair - brachydactyly' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf 'gene' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'intellectual disability - sparse hair - brachydactyly' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3082 Label: Intellectual disability - polydactyly - uncombable hair - 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'malformation syndrome' - 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - polydactyly - uncombable hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - polydactyly - uncombable hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'malformation syndrome' + 'Intellectual disability - polydactyly - uncombable hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3080 Label: Intellectual disability, Wolff type - 'Intellectual disability, Wolff type' SubClassOf 'malformation syndrome' - 'Intellectual disability, Wolff type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability, Wolff type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability, Wolff type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability, Wolff type' SubClassOf 'malformation syndrome' + 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3071 Label: Costello syndrome - 'Costello syndrome' SubClassOf 'malformation syndrome' - 'Costello syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Costello syndrome' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Costello syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Costello syndrome' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' - 'Costello syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Costello syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Costello syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Costello syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Costello syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Costello syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Costello syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Costello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Costello syndrome' SubClassOf 'malformation syndrome' + 'Costello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Costello syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Costello syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Costello syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_199343 Label: EAST syndrome - 'EAST syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'EAST syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'EAST syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'EAST syndrome' SubClassOf 'disease' - 'EAST syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'EAST syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'EAST syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'EAST syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'EAST syndrome' SubClassOf 'part_of' some 'Channelopathy with epilepsy' - 'EAST syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'EAST syndrome' SubClassOf 'disease' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'EAST syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Channelopathy with epilepsy' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'EAST syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'EAST syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'EAST syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_318853 Label: ATR interacting protein - 'ATR interacting protein' SubClassOf 'gene' - 'ATR interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'ATR interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.3-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'ATR interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'ATR interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_920 Label: Ablepharon macrostomia syndrome - 'Ablepharon macrostomia syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ablepharon macrostomia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ablepharon macrostomia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ablepharon macrostomia syndrome' SubClassOf 'part_of' some 'Microblepharon - ablephara' - 'Ablepharon macrostomia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ablepharon macrostomia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ablepharon macrostomia syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Ablepharon macrostomia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ablepharon macrostomia syndrome' SubClassOf 'malformation syndrome' + 'Ablepharon macrostomia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ablepharon macrostomia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ablepharon macrostomia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microblepharon - ablephara' + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ablepharon macrostomia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ablepharon macrostomia syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199348 Label: Thiamine-responsive encephalopathy - 'Thiamine-responsive encephalopathy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Thiamine-responsive encephalopathy' SubClassOf 'disease' - 'Thiamine-responsive encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thiamine-responsive encephalopathy' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Thiamine-responsive encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thiamine-responsive encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Thiamine-responsive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Thiamine-responsive encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thiamine-responsive encephalopathy' SubClassOf 'disease' + 'Thiamine-responsive encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thiamine-responsive encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thiamine-responsive encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thiamine-responsive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_221150 Label: Pitt-Hopkins-like syndrome - 'Pitt-Hopkins-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pitt-Hopkins-like syndrome' SubClassOf 'disease' - 'Pitt-Hopkins-like syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Pitt-Hopkins-like syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Pitt-Hopkins-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pitt-Hopkins-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pitt-Hopkins-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pitt-Hopkins-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pitt-Hopkins-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pitt-Hopkins-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Pitt-Hopkins-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pitt-Hopkins-like syndrome' SubClassOf 'disease' + 'Pitt-Hopkins-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_921 Label: Abruzzo-Erickson syndrome - 'Abruzzo-Erickson syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Abruzzo-Erickson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Abruzzo-Erickson syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Abruzzo-Erickson syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Abruzzo-Erickson syndrome' SubClassOf 'malformation syndrome' - 'Abruzzo-Erickson syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Abruzzo-Erickson syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Abruzzo-Erickson syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Abruzzo-Erickson syndrome' SubClassOf 'malformation syndrome' + 'Abruzzo-Erickson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Abruzzo-Erickson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Abruzzo-Erickson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_199340 Label: Muscular dystrophy, Selcen type - 'Muscular dystrophy, Selcen type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Muscular dystrophy, Selcen type' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Muscular dystrophy, Selcen type' SubClassOf 'disease' - 'Muscular dystrophy, Selcen type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muscular dystrophy, Selcen type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Muscular dystrophy, Selcen type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Muscular dystrophy, Selcen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Muscular dystrophy, Selcen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Muscular dystrophy, Selcen type' SubClassOf 'disease' + 'Muscular dystrophy, Selcen type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muscular dystrophy, Selcen type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_166081 Label: Von Willebrand disease type 2 - 'Von Willebrand disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Willebrand disease type 2' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Von Willebrand disease type 2' SubClassOf 'clinical subtype' - 'Von Willebrand disease type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Von Willebrand disease type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Von Willebrand disease type 2' SubClassOf 'part_of' some 'Von Willebrand disease' + 'Von Willebrand disease type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Von Willebrand disease type 2' SubClassOf 'clinical subtype' + 'Von Willebrand disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Von Willebrand disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Willebrand disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Von Willebrand disease' + 'Von Willebrand disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_121303 Label: EF-hand domain (C-terminal) containing 1 - 'EF-hand domain (C-terminal) containing 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile absence epilepsy' - 'EF-hand domain (C-terminal) containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' - 'EF-hand domain (C-terminal) containing 1' SubClassOf 'gene' + 'EF-hand domain (C-terminal) containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'EF-hand domain (C-terminal) containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EF-hand domain (C-terminal) containing 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' + 'EF-hand domain (C-terminal) containing 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile absence epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_403364 Label: ectonucleoside triphosphate diphosphohydrolase 1 - 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 64' - 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf 'gene' + 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 64' + 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121305 Label: ephrin-B1 - 'ephrin-B1' SubClassOf 'gene' - 'ephrin-B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofrontonasal dysplasia' + 'ephrin-B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ephrin-B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12"^^http://www.w3.org/2001/XMLSchema#string + 'ephrin-B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofrontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_166084 Label: Von Willebrand disease type 2A - 'Von Willebrand disease type 2A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Von Willebrand disease type 2A' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Willebrand disease type 2A' SubClassOf 'clinical subtype' - 'Von Willebrand disease type 2A' SubClassOf 'has_prevalence' some 'Unknown' + 'Von Willebrand disease type 2A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Willebrand disease type 2A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Willebrand disease type 2A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_166087 Label: Von Willebrand disease type 2B - 'Von Willebrand disease type 2B' SubClassOf 'has_prevalence' some 'Unknown' - 'Von Willebrand disease type 2B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Willebrand disease type 2B' SubClassOf 'clinical subtype' + 'Von Willebrand disease type 2B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Willebrand disease type 2B' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_314918 Label: Mild Canavan disease - 'Mild Canavan disease' SubClassOf 'clinical subtype' - 'Mild Canavan disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mild Canavan disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mild Canavan disease' SubClassOf 'part_of' some 'Canavan disease' - 'Mild Canavan disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mild Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mild Canavan disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mild Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Canavan disease' + 'Mild Canavan disease' SubClassOf 'clinical subtype' + 'Mild Canavan disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159756 Label: mucosa associated lymphoid tissue lymphoma translocation gene 1 - 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' - 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to MALT1 deficiency' - 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'gene' + 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'Part of a fusion gene in' some 'MALT lymphoma' + 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to MALT1 deficiency' + 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3079 Label: Intellectual disability, Buenos-Aires type - 'Intellectual disability, Buenos-Aires type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability, Buenos-Aires type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability, Buenos-Aires type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability, Buenos-Aires type' SubClassOf 'malformation syndrome' + 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability, Buenos-Aires type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_913 Label: Zollinger-Ellison syndrome - 'Zollinger-Ellison syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Zollinger-Ellison syndrome' SubClassOf 'part_of' some 'Duodenal endocrine tumor' - 'Zollinger-Ellison syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Zollinger-Ellison syndrome' SubClassOf 'disease' - 'Zollinger-Ellison syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Zollinger-Ellison syndrome' SubClassOf 'part_of' some 'Pancreatic endocrine tumor' + 'Zollinger-Ellison syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duodenal endocrine tumor' + 'Zollinger-Ellison syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Zollinger-Ellison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Zollinger-Ellison syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic endocrine tumor' + 'Zollinger-Ellison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Zollinger-Ellison syndrome' SubClassOf 'disease' + 'Zollinger-Ellison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Zollinger-Ellison syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Zollinger-Ellison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Zollinger-Ellison syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_912 Label: Zellweger syndrome - 'Zellweger syndrome' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Zellweger syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Craniofacial anomaly with cataract' - 'Zellweger syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' - 'Zellweger syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zellweger syndrome' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Zellweger syndrome' SubClassOf 'disease' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Zellweger syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Zellweger syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zellweger syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniofacial anomaly with cataract' + 'Zellweger syndrome' SubClassOf 'disease' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' Class: http://www.orpha.net/ORDO/Orphanet_3077 Label: X-linked intellectual disability - psychosis - macroorchidism - 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_911 Label: Combined immunodeficiency due to ZAP70 deficiency - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_3078 Label: Severe X-linked intellectual disability, Gustavson type - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'malformation syndrome' - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'malformation syndrome' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_159752 Label: low density lipoprotein receptor-related protein 6 - 'low density lipoprotein receptor-related protein 6' SubClassOf 'gene' - 'low density lipoprotein receptor-related protein 6' SubClassOf 'Major susceptibility factor in' some 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' + 'low density lipoprotein receptor-related protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor-related protein 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein 6' SubClassOf 'Major susceptibility factor in' some 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' Class: http://www.orpha.net/ORDO/Orphanet_916 Label: Aase-Smith syndrome - 'Aase-Smith syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aase-Smith syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aase-Smith syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Aase-Smith syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Aase-Smith syndrome' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Aase-Smith syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aase-Smith syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'Aase-Smith syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Aase-Smith syndrome' SubClassOf 'malformation syndrome' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Aase-Smith syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Aase-Smith syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Aase-Smith syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aase-Smith syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aase-Smith syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_915 Label: Aarskog-Scott syndrome - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aarskog-Scott syndrome' SubClassOf 'malformation syndrome' - 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aarskog-Scott syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aarskog-Scott syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aarskog-Scott syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Aarskog-Scott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aarskog-Scott syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aarskog-Scott syndrome' SubClassOf 'malformation syndrome' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Aarskog-Scott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3074 Label: Intellectual disability - short stature - hypertelorism - 'Intellectual disability - short stature - hypertelorism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - short stature - hypertelorism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - short stature - hypertelorism' SubClassOf 'malformation syndrome' - 'Intellectual disability - short stature - hypertelorism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - short stature - hypertelorism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - short stature - hypertelorism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - short stature - hypertelorism' SubClassOf 'malformation syndrome' + 'Intellectual disability - short stature - hypertelorism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_221142 Label: Confetti-like macular atrophy - 'Confetti-like macular atrophy' SubClassOf 'part_of' some 'Primary anetoderma' - 'Confetti-like macular atrophy' SubClassOf 'clinical subtype' + 'Confetti-like macular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary anetoderma' + 'Confetti-like macular atrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3061 Label: X-linked intellectual disability, Raynaud type - 'X-linked intellectual disability, Raynaud type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Raynaud type' SubClassOf 'disease' - 'X-linked intellectual disability, Raynaud type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Raynaud type' SubClassOf 'disease' + 'X-linked intellectual disability, Raynaud type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Raynaud type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_199332 Label: Endocrine-cerebro-osteodysplasia syndrome - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'malformation syndrome' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'part_of' some 'Dysostosis with limb and face anomalies as a major feature' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'malformation syndrome' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with limb and face anomalies as a major feature' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_930 Label: Idiopathic achalasia - 'Idiopathic achalasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Idiopathic achalasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Idiopathic achalasia' SubClassOf 'disease' - 'Idiopathic achalasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic achalasia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf 'disease' + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.73"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Idiopathic achalasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.82"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Idiopathic achalasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.59"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_931 Label: Acheiropodia - 'Acheiropodia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acheiropodia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acheiropodia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acheiropodia' SubClassOf 'morphological anomaly' - 'Acheiropodia' SubClassOf 'part_of' some 'Terminal limb defects' + 'Acheiropodia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acheiropodia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acheiropodia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acheiropodia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acheiropodia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Acheiropodia' SubClassOf 'morphological anomaly' + 'Acheiropodia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Terminal limb defects' Class: http://www.orpha.net/ORDO/Orphanet_329894 Label: Juvenile overlap myositis - 'Juvenile overlap myositis' SubClassOf 'disease' - 'Juvenile overlap myositis' SubClassOf 'part_of' some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile overlap myositis' SubClassOf 'disease' + 'Juvenile overlap myositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_199337 Label: Pancreatic insufficiency - anemia - hyperostosis - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'part_of' some 'Genetic pancreatic disease' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'part_of' some 'Constitutional dyserythropoietic anemia' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'disease' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional dyserythropoietic anemia' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pancreatic disease' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'disease' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_932 Label: Achondrogenesis - 'Achondrogenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Achondrogenesis' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Achondrogenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Achondrogenesis' SubClassOf 'disease' - 'Achondrogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondrogenesis' SubClassOf 'has_prevalence' some 'Unknown' + 'Achondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Achondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Achondrogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achondrogenesis' SubClassOf 'disease' + 'Achondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Achondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_168309 Label: GLIS family zinc finger 2 - 'GLIS family zinc finger 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'GLIS family zinc finger 2' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' - 'GLIS family zinc finger 2' SubClassOf 'gene' + 'GLIS family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLIS family zinc finger 2' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' + 'GLIS family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'GLIS family zinc finger 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Juvenile autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_314938 Label: thrombospondin-type laminin G domain and EAR repeats - 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf 'gene' + 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221145 Label: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'part_of' some 'Cutis laxa' - 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'malformation syndrome' + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'malformation syndrome' + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_403370 Label: arylsulfatase family, member I - 'arylsulfatase family, member I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 66' - 'arylsulfatase family, member I' SubClassOf 'gene' + 'arylsulfatase family, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'arylsulfatase family, member I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 66' + 'arylsulfatase family, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_166090 Label: Von Willebrand disease type 2M - 'Von Willebrand disease type 2M' SubClassOf 'has_prevalence' some 'Unknown' - 'Von Willebrand disease type 2M' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Willebrand disease type 2M' SubClassOf 'clinical subtype' + 'Von Willebrand disease type 2M' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Willebrand disease type 2M' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_166096 Label: Von Willebrand disease type 3 - 'Von Willebrand disease type 3' SubClassOf 'clinical subtype' - 'Von Willebrand disease type 3' SubClassOf 'part_of' some 'Von Willebrand disease' - 'Von Willebrand disease type 3' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Von Willebrand disease type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Von Willebrand disease type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Von Willebrand disease type 3' SubClassOf 'clinical subtype' + 'Von Willebrand disease type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Von Willebrand disease type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Von Willebrand disease type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Von Willebrand disease type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Von Willebrand disease' + 'Von Willebrand disease type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_168312 Label: nuclear receptor subfamily 5, group A, member 1 - 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'gene' - 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' - 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' - 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_403377 Label: post-GPI attachment to proteins 1 - 'post-GPI attachment to proteins 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 67' - 'post-GPI attachment to proteins 1' SubClassOf 'gene' + 'post-GPI attachment to proteins 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 67' + 'post-GPI attachment to proteins 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'post-GPI attachment to proteins 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159769 Label: achaete-scute family bHLH transcription factor 1 - 'achaete-scute family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' - 'achaete-scute family bHLH transcription factor 1' SubClassOf 'gene' - 'achaete-scute family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'achaete-scute family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'achaete-scute family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'achaete-scute family bHLH transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_166093 Label: Von Willebrand disease type 2N - 'Von Willebrand disease type 2N' SubClassOf 'clinical subtype' - 'Von Willebrand disease type 2N' SubClassOf 'has_prevalence' some 'Unknown' - 'Von Willebrand disease type 2N' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Von Willebrand disease type 2N' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Willebrand disease type 2N' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_314928 Label: Normal pressure hydrocephalus - 'Normal pressure hydrocephalus' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Normal pressure hydrocephalus' SubClassOf 'disease' - 'Normal pressure hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Normal pressure hydrocephalus' SubClassOf 'has_inheritance' some 'sporadic' - 'Normal pressure hydrocephalus' SubClassOf 'part_of' some 'Rare dementia' + 'Normal pressure hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Normal pressure hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Normal pressure hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Normal pressure hydrocephalus' SubClassOf 'disease' + 'Normal pressure hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Normal pressure hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Normal pressure hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Normal pressure hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' Class: http://www.orpha.net/ORDO/Orphanet_168319 Label: Jrk homolog (mouse) - 'Jrk homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'Jrk homolog (mouse)' SubClassOf 'Candidate gene tested in' some 'Juvenile myoclonic epilepsy' - 'Jrk homolog (mouse)' SubClassOf 'gene' + 'Jrk homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'Jrk homolog (mouse)' SubClassOf 'Candidate gene tested in' some 'Juvenile myoclonic epilepsy' + 'Jrk homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'Jrk homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159765 Label: mercaptopyruvate sulfurtransferase - 'mercaptopyruvate sulfurtransferase' SubClassOf 'gene' - 'mercaptopyruvate sulfurtransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' Class: http://www.orpha.net/ORDO/Orphanet_922 Label: Familial nasal acilia - 'Familial nasal acilia' SubClassOf 'disease' - 'Familial nasal acilia' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' + 'Familial nasal acilia' SubClassOf 'disease' + 'Familial nasal acilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_3067 Label: Intellectual disability - microcephaly - phalangeal - facial abnormalities - 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'malformation syndrome' + 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3068 Label: Intellectual disability - myopathy - short stature - endocrine defect - 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'part_of' some 'Congenital myopathy' - 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'disease' + 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_199329 Label: Congenital myopathy, Paradas type - 'Congenital myopathy, Paradas type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital myopathy, Paradas type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dysferlin' - 'Congenital myopathy, Paradas type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital myopathy, Paradas type' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital myopathy, Paradas type' SubClassOf 'disease' + 'Congenital myopathy, Paradas type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital myopathy, Paradas type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital myopathy, Paradas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dysferlin' + 'Congenital myopathy, Paradas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital myopathy, Paradas type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital myopathy, Paradas type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_924 Label: Acanthosis nigricans - 'Acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acanthosis nigricans' SubClassOf 'disease' - 'Acanthosis nigricans' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Acanthosis nigricans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acanthosis nigricans' SubClassOf 'part_of' some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_927 Label: Hyperammonemia due to N-acetylglutamate synthetase deficiency - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'disease' - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'disease' + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3062 Label: X-linked intellectual disability, Schutz type - 'X-linked intellectual disability, Schutz type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Schutz type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Schutz type' SubClassOf 'disease' + 'X-linked intellectual disability, Schutz type' SubClassOf 'disease' + 'X-linked intellectual disability, Schutz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Schutz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_926 Label: Acatalasemia - 'Acatalasemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acatalasemia' SubClassOf 'disease' - 'Acatalasemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acatalasemia' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' - 'Acatalasemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Acatalasemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Acatalasemia' SubClassOf 'disease' + 'Acatalasemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acatalasemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Acatalasemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3063 Label: X-linked intellectual disability, Snyder type - 'X-linked intellectual disability, Snyder type' SubClassOf 'disease' - 'X-linked intellectual disability, Snyder type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Snyder type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Snyder type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Snyder type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'X-linked intellectual disability, Snyder type' SubClassOf 'disease' + 'X-linked intellectual disability, Snyder type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked intellectual disability, Snyder type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Snyder type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Snyder type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Snyder type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_929 Label: Achalasia - microcephaly - 'Achalasia - microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Achalasia - microcephaly' SubClassOf 'malformation syndrome' - 'Achalasia - microcephaly' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'Achalasia - microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achalasia - microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Achalasia - microcephaly' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' + 'Achalasia - microcephaly' SubClassOf 'malformation syndrome' + 'Achalasia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' + 'Achalasia - microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achalasia - microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achalasia - microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Achalasia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_3064 Label: X-linked intellectual disability, Wittner type - 'X-linked intellectual disability, Wittner type' SubClassOf 'disease' - 'X-linked intellectual disability, Wittner type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Wittner type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Wittner type' SubClassOf 'disease' + 'X-linked intellectual disability, Wittner type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Wittner type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_329883 Label: Non-hypoproteinemic hypertrophic gastropathy - 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'disease' - 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'disease' + 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_98606 Label: Syndromic orbital border hypoplasia - 'Syndromic orbital border hypoplasia' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' - 'Syndromic orbital border hypoplasia' SubClassOf 'malformation syndrome' + 'Syndromic orbital border hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' + 'Syndromic orbital border hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_322975 Label: Usher syndrome 1K (autosomal recessive) - 'Usher syndrome 1K (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'Usher syndrome 1K (autosomal recessive)' SubClassOf 'gene' + 'Usher syndrome 1K (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'Usher syndrome 1K (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p11.21-q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'Usher syndrome 1K (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_102010 Label: Other syndrome with lissencephaly as a major feature - 'Other syndrome with lissencephaly as a major feature' SubClassOf 'group of disorders' + 'Other syndrome with lissencephaly as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98609 Label: EEC syndrome and related syndrome - 'EEC syndrome and related syndrome' SubClassOf 'group of disorders' + 'EEC syndrome and related syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98608 Label: Anomaly of the secretory and excretory apparatus of the lacrimal system - 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'group of disorders' + 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98603 Label: Secretory apparatus of the lacrimal system anomaly - 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'group of disorders' + 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3050 Label: Intellectual disability - hypotonia - skin hyperpigmentation - 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'disease' - 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'disease' + 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_102013 Label: Complex hereditary spastic paraplegia - 'Complex hereditary spastic paraplegia' SubClassOf 'group of disorders' + 'Complex hereditary spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98602 Label: Rare lacrimal system disease - 'Rare lacrimal system disease' SubClassOf 'group of disorders' + 'Rare lacrimal system disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329888 Label: Juvenile idiopathic inflammatory myopathy - 'Juvenile idiopathic inflammatory myopathy' SubClassOf 'group of disorders' + 'Juvenile idiopathic inflammatory myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102014 Label: Autosomal dominant limb-girdle muscular dystrophy - 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'group of disorders' + 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98605 Label: Excretory apparatus of the lacrimal system anomaly - 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'group of disorders' + 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102011 Label: Lissencephaly type 3 - 'Lissencephaly type 3' SubClassOf 'group of disorders' + 'Lissencephaly type 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98604 Label: Congenital alacrima - 'Congenital alacrima' SubClassOf 'group of disorders' + 'Congenital alacrima' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102012 Label: Pure hereditary spastic paraplegia - 'Pure hereditary spastic paraplegia' SubClassOf 'group of disorders' + 'Pure hereditary spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159729 Label: insulin-like growth factor 2 (somatomedin A) - 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to 11p15 microduplication' - 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' - 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' - 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'gene' - 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to imprinting defect of 11p15' + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to 11p15 microduplication' + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'insulin-like growth factor 2 (somatomedin A)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to imprinting defect of 11p15' Class: http://www.orpha.net/ORDO/Orphanet_121317 Label: eukaryotic translation initiation factor 2-alpha kinase 3 - 'eukaryotic translation initiation factor 2-alpha kinase 3' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2-alpha kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolcott-Rallison syndrome' + 'eukaryotic translation initiation factor 2-alpha kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolcott-Rallison syndrome' + 'eukaryotic translation initiation factor 2-alpha kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2-alpha kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_102015 Label: Autosomal recessive limb-girdle muscular dystrophy - 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'group of disorders' + 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_318839 Label: multiple EGF-like-domains 8 - 'multiple EGF-like-domains 8' SubClassOf 'gene' - 'multiple EGF-like-domains 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter syndrome' + 'multiple EGF-like-domains 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple EGF-like-domains 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'multiple EGF-like-domains 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221139 Label: Combined immunodeficiency with facio-oculo-skeletal anomalies - 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'disease' - 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'disease' + 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_121320 Label: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa - 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' - 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' - 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital or early infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile or adult CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3059 Label: X-linked intellectual disability, Gu type - 'X-linked intellectual disability, Gu type' SubClassOf 'disease' - 'X-linked intellectual disability, Gu type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Gu type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Gu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Gu type' SubClassOf 'disease' + 'X-linked intellectual disability, Gu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_159734 Label: interleukin 7 receptor - 'interleukin 7 receptor' SubClassOf 'gene' - 'interleukin 7 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' - 'interleukin 7 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'interleukin 7 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 7 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'interleukin 7 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' + 'interleukin 7 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401123 Label: solute carrier family 7, member 14 - 'solute carrier family 7, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'solute carrier family 7, member 14' SubClassOf 'gene' + 'solute carrier family 7, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 7, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 7, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_292259 Label: aldo-keto reductase family 1, member C4 - 'aldo-keto reductase family 1, member C4' SubClassOf 'gene' - 'aldo-keto reductase family 1, member C4' SubClassOf 'Modifying germline mutation in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'aldo-keto reductase family 1, member C4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldo-keto reductase family 1, member C4' SubClassOf 'Modifying germline mutation in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'aldo-keto reductase family 1, member C4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159737 Label: potassium voltage-gated channel, Shaw-related subfamily, member 3 - 'potassium voltage-gated channel, Shaw-related subfamily, member 3' SubClassOf 'gene' - 'potassium voltage-gated channel, Shaw-related subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 13' + 'potassium voltage-gated channel, Shaw-related subfamily, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 13' + 'potassium voltage-gated channel, Shaw-related subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, Shaw-related subfamily, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169896 Label: solute carrier family 17 (vesicular glutamate transporter), member 8 - 'solute carrier family 17 (vesicular glutamate transporter), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'solute carrier family 17 (vesicular glutamate transporter), member 8' SubClassOf 'gene' + 'solute carrier family 17 (vesicular glutamate transporter), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'solute carrier family 17 (vesicular glutamate transporter), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 17 (vesicular glutamate transporter), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83311 Label: Rocky Mountain spotted fever - 'Rocky Mountain spotted fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Rocky Mountain spotted fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rocky Mountain spotted fever' SubClassOf 'part_of' some 'Spotted fever rickettsiosis' - 'Rocky Mountain spotted fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Rocky Mountain spotted fever' SubClassOf 'disease' + 'Rocky Mountain spotted fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spotted fever rickettsiosis' + 'Rocky Mountain spotted fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rocky Mountain spotted fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rocky Mountain spotted fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Rocky Mountain spotted fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_403385 Label: fibronectin leucine rich transmembrane protein 1 - 'fibronectin leucine rich transmembrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 68' - 'fibronectin leucine rich transmembrane protein 1' SubClassOf 'gene' + 'fibronectin leucine rich transmembrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 68' + 'fibronectin leucine rich transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'fibronectin leucine rich transmembrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121326 Label: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa - 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' - 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' - 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile or adult CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital or early infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166063 Label: Pontocerebellar hypoplasia type 4 - 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 4' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 4' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 4' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98610 Label: Rare conjunctival disease - 'Rare conjunctival disease' SubClassOf 'group of disorders' + 'Rare conjunctival disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98611 Label: Conjunctival vascular anomaly - 'Conjunctival vascular anomaly' SubClassOf 'group of disorders' + 'Conjunctival vascular anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3051 Label: intellectual disability - sparse hair - brachydactyly - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'malformation syndrome' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'malformation syndrome' + 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'intellectual disability - sparse hair - brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98612 Label: Conjunctival hemangioma or hemolymphangioma - 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'group of disorders' + 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3052 Label: X-linked intellectual disability - seizures - psoriasis - 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'disease' + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3057 Label: Monoamine oxidase A deficiency - 'Monoamine oxidase A deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Monoamine oxidase A deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Monoamine oxidase A deficiency' SubClassOf 'part_of' some 'Disorder of neurotransmitter metabolism and transport' - 'Monoamine oxidase A deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Monoamine oxidase A deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Monoamine oxidase A deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Monoamine oxidase A deficiency' SubClassOf 'disease' + 'Monoamine oxidase A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neurotransmitter metabolism and transport' + 'Monoamine oxidase A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Monoamine oxidase A deficiency' SubClassOf 'disease' + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_166068 Label: Pontocerebellar hypoplasia type 5 - 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 5' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 5' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 5' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_3055 Label: X-linked intellectual disability - short stature - obesity - 'X-linked intellectual disability - short stature - obesity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - short stature - obesity' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - short stature - obesity' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - short stature - obesity' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - short stature - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - short stature - obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_3056 Label: X-linked intellectual disability, Brooks type - 'X-linked intellectual disability, Brooks type' SubClassOf 'disease' - 'X-linked intellectual disability, Brooks type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Brooks type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Brooks type' SubClassOf 'disease' + 'X-linked intellectual disability, Brooks type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Brooks type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_329874 Label: Idiopathic giant cell myocarditis - 'Idiopathic giant cell myocarditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic giant cell myocarditis' SubClassOf 'part_of' some 'Cardiomyopathy' - 'Idiopathic giant cell myocarditis' SubClassOf 'disease' - 'Idiopathic giant cell myocarditis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Idiopathic giant cell myocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic giant cell myocarditis' SubClassOf 'disease' + 'Idiopathic giant cell myocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Idiopathic giant cell myocarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_293381 Label: Epithelial recurrent erosion dystrophy - 'Epithelial recurrent erosion dystrophy' SubClassOf 'disease' - 'Epithelial recurrent erosion dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epithelial recurrent erosion dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Epithelial recurrent erosion dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Epithelial recurrent erosion dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Epithelial recurrent erosion dystrophy' SubClassOf 'disease' + 'Epithelial recurrent erosion dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Epithelial recurrent erosion dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epithelial recurrent erosion dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_910 Label: Xeroderma pigmentosum - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Xeroderma pigmentosum' SubClassOf 'disease' - 'Xeroderma pigmentosum' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Xeroderma pigmentosum' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Xeroderma pigmentosum' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.41"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Xeroderma pigmentosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf 'disease' + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410117) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Xeroderma pigmentosum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Xeroderma pigmentosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_102000 Label: Medullar disease - 'Medullar disease' SubClassOf 'group of disorders' + 'Medullar disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221120 Label: Pseudoaminopterin syndrome - 'Pseudoaminopterin syndrome' SubClassOf 'malformation syndrome' - 'Pseudoaminopterin syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Pseudoaminopterin syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Pseudoaminopterin syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Pseudoaminopterin syndrome' SubClassOf 'malformation syndrome' + 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_102002 Label: Rare ataxia - 'Rare ataxia' SubClassOf 'group of disorders' + 'Rare ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102003 Label: Rare movement disorder - 'Rare movement disorder' SubClassOf 'group of disorders' + 'Rare movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199354 Label: CARASIL - 'CARASIL' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'CARASIL' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'CARASIL' SubClassOf 'has_prevalence' some 'Unknown' - 'CARASIL' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CARASIL' SubClassOf 'disease' - 'CARASIL' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'CARASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'CARASIL' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CARASIL' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'CARASIL' SubClassOf 'disease' + 'CARASIL' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CARASIL' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_83313 Label: Boutonneuse fever - 'Boutonneuse fever' SubClassOf 'has_inheritance' some 'sporadic' - 'Boutonneuse fever' SubClassOf 'disease' - 'Boutonneuse fever' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Boutonneuse fever' SubClassOf 'part_of' some 'Spotted fever rickettsiosis' - 'Boutonneuse fever' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Boutonneuse fever' SubClassOf 'disease' + 'Boutonneuse fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spotted fever rickettsiosis' + 'Boutonneuse fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Boutonneuse fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Boutonneuse fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Boutonneuse fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Boutonneuse fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_83312 Label: Rickettsialpox - 'Rickettsialpox' SubClassOf 'has_prevalence' some 'Unknown' - 'Rickettsialpox' SubClassOf 'part_of' some 'Spotted fever rickettsiosis' - 'Rickettsialpox' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Rickettsialpox' SubClassOf 'disease' - 'Rickettsialpox' SubClassOf 'has_inheritance' some 'sporadic' + 'Rickettsialpox' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rickettsialpox' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rickettsialpox' SubClassOf 'disease' + 'Rickettsialpox' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_403392 Label: zinc finger RNA binding protein - 'zinc finger RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 71' - 'zinc finger RNA binding protein' SubClassOf 'gene' + 'zinc finger RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 71' + 'zinc finger RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_102005 Label: Brain inflammatory disease - 'Brain inflammatory disease' SubClassOf 'group of disorders' + 'Brain inflammatory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_83315 Label: Murine typhus - 'Murine typhus' SubClassOf 'has_prevalence' some 'Unknown' - 'Murine typhus' SubClassOf 'part_of' some 'Typhus-group rickettsiosis' - 'Murine typhus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Murine typhus' SubClassOf 'has_inheritance' some 'sporadic' - 'Murine typhus' SubClassOf 'disease' + 'Murine typhus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Murine typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Typhus-group rickettsiosis' + 'Murine typhus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Murine typhus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314911 Label: Severe Canavan disease - 'Severe Canavan disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Severe Canavan disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe Canavan disease' SubClassOf 'part_of' some 'Canavan disease' - 'Severe Canavan disease' SubClassOf 'clinical subtype' - 'Severe Canavan disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Severe Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe Canavan disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe Canavan disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe Canavan disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Canavan disease' + 'Severe Canavan disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_102006 Label: Neurovascular malformation - 'Neurovascular malformation' SubClassOf 'group of disorders' + 'Neurovascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_199351 Label: Adult-onset dystonia-parkinsonism - 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'PLA2G6-associated neurodegeneration' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'disease' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'PLA2G6-associated neurodegeneration' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Adult-onset dystonia-parkinsonism' SubClassOf 'disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_83314 Label: Epidemic typhus - 'Epidemic typhus' SubClassOf 'part_of' some 'Typhus-group rickettsiosis' - 'Epidemic typhus' SubClassOf 'has_inheritance' some 'sporadic' - 'Epidemic typhus' SubClassOf 'disease' - 'Epidemic typhus' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidemic typhus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Epidemic typhus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Epidemic typhus' SubClassOf 'disease' + 'Epidemic typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Typhus-group rickettsiosis' + 'Epidemic typhus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_221126 Label: Fowler syndrome - 'Fowler syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Fowler syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Fowler syndrome' SubClassOf 'malformation syndrome' + 'Fowler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Fowler syndrome' SubClassOf 'malformation syndrome' + 'Fowler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_83317 Label: Scrub typhus - 'Scrub typhus' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Scrub typhus' SubClassOf 'disease' - 'Scrub typhus' SubClassOf 'has_prevalence' some 'Unknown' - 'Scrub typhus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Scrub typhus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Scrub typhus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Scrub typhus' SubClassOf 'disease' + 'Scrub typhus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Scrub typhus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_83316 Label: Pseudotyphus of California - 'Pseudotyphus of California' SubClassOf 'disease' - 'Pseudotyphus of California' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pseudotyphus of California' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudotyphus of California' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudotyphus of California' SubClassOf 'part_of' some 'Typhus-group rickettsiosis' + 'Pseudotyphus of California' SubClassOf 'disease' + 'Pseudotyphus of California' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudotyphus of California' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pseudotyphus of California' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Typhus-group rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_102009 Label: Classic lissencephaly - 'Classic lissencephaly' SubClassOf 'group of disorders' + 'Classic lissencephaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401132 Label: fibroblast growth factor 20 - 'fibroblast growth factor 20' SubClassOf 'gene' - 'fibroblast growth factor 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' + 'fibroblast growth factor 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral renal agenesis' + 'fibroblast growth factor 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121311 Label: epidermal growth factor receptor - 'epidermal growth factor receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gliosarcoma' - 'epidermal growth factor receptor' SubClassOf 'gene' - 'epidermal growth factor receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Giant cell glioblastoma' - 'epidermal growth factor receptor' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' - 'epidermal growth factor receptor' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' + 'epidermal growth factor receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gliosarcoma' + 'epidermal growth factor receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p12"^^http://www.w3.org/2001/XMLSchema#string + 'epidermal growth factor receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Giant cell glioblastoma' + 'epidermal growth factor receptor' SubClassOf 'Part of a fusion gene in' some 'Giant cell glioblastoma' + 'epidermal growth factor receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'epidermal growth factor receptor' SubClassOf 'Part of a fusion gene in' some 'Gliosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_166078 Label: Von Willebrand disease type 1 - 'Von Willebrand disease type 1' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Von Willebrand disease type 1' SubClassOf 'clinical subtype' - 'Von Willebrand disease type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Willebrand disease type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Von Willebrand disease type 1' SubClassOf 'part_of' some 'Von Willebrand disease' + 'Von Willebrand disease type 1' SubClassOf 'clinical subtype' + 'Von Willebrand disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Von Willebrand disease' + 'Von Willebrand disease type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Von Willebrand disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Von Willebrand disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159744 Label: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase - 'LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase' SubClassOf 'gene' - 'LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_909 Label: Cerebrotendinous xanthomatosis - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Sterol metabolism disorder with epilepsy' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Leukodystrophy' - 'Cerebrotendinous xanthomatosis' SubClassOf 'disease' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Cerebrotendinous xanthomatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cerebrotendinous xanthomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Bile acid synthesis defect with cholestasis and malabsorption' - 'Cerebrotendinous xanthomatosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Rare syndromic dyslipidemia' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Cerebrotendinous xanthomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebrotendinous xanthomatosis' SubClassOf 'disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndromic dyslipidemia' + 'Cerebrotendinous xanthomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebrotendinous xanthomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Cerebrotendinous xanthomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' + 'Cerebrotendinous xanthomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol metabolism disorder with epilepsy' + 'Cerebrotendinous xanthomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_908 Label: Fragile X syndrome - 'Fragile X syndrome' SubClassOf 'part_of' some 'Motor stereotypies' - 'Fragile X syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Fragile X syndrome' SubClassOf 'malformation syndrome' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Fragile X syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Fragile X syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Fragile X syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - 'Fragile X syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fragile X syndrome' SubClassOf 'malformation syndrome' + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor stereotypies' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Fragile X syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fragile X syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Fragile X syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "32.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fragile X syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_292247 Label: aldo-keto reductase family 1, member C2 - 'aldo-keto reductase family 1, member C2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' - 'aldo-keto reductase family 1, member C2' SubClassOf 'gene' + 'aldo-keto reductase family 1, member C2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'aldo-keto reductase family 1, member C2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15-p14"^^http://www.w3.org/2001/XMLSchema#string + 'aldo-keto reductase family 1, member C2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_166073 Label: Pontocerebellar hypoplasia type 6 - 'Pontocerebellar hypoplasia type 6' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pontocerebellar hypoplasia type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_403398 Label: receptor accessory protein 2 - 'receptor accessory protein 2' SubClassOf 'gene' - 'receptor accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 72' + 'receptor accessory protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'receptor accessory protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string + 'receptor accessory protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive spastic paraplegia type 72' Class: http://www.orpha.net/ORDO/Orphanet_159747 Label: low density lipoprotein receptor-related protein 2 - 'low density lipoprotein receptor-related protein 2' SubClassOf 'gene' - 'low density lipoprotein receptor-related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Donnai-Barrow syndrome' + 'low density lipoprotein receptor-related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor-related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Donnai-Barrow syndrome' + 'low density lipoprotein receptor-related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121314 Label: early growth response 2 - 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' - 'early growth response 2' SubClassOf 'gene' - 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1D' - 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4E' + 'early growth response 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1D' + 'early growth response 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'early growth response 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4E' Class: http://www.orpha.net/ORDO/Orphanet_98600 Label: Eyebrow/eyelashes distichiasis - 'Eyebrow/eyelashes distichiasis' SubClassOf 'group of disorders' + 'Eyebrow/eyelashes distichiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_905 Label: Wilson disease - 'Wilson disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wilson disease' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Wilson disease' SubClassOf 'part_of' some 'Rare genetic tremor disorder' - 'Wilson disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Wilson disease' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Wilson disease' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Wilson disease' SubClassOf 'disease' - 'Wilson disease' SubClassOf 'part_of' some 'Supranuclear oculomotor palsy' - 'Wilson disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Wilson disease' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Wilson disease' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Wilson disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Wilson disease' SubClassOf 'part_of' some 'Disorder of copper metabolism' - 'Wilson disease' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' - 'Wilson disease' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Wilson disease' SubClassOf 'part_of' some 'Metal transport or utilization disorder with epilepsy' - 'Wilson disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic tremor disorder' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Supranuclear oculomotor palsy' + 'Wilson disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.94"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'Wilson disease' SubClassOf 'disease' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metal transport or utilization disorder with epilepsy' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Wilson disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98601 Label: Eyebrow/eyelashes pigmentation anomaly - 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'group of disorders' + 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_904 Label: Williams syndrome - 'Williams syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Williams syndrome' SubClassOf 'part_of' some 'Motor stereotypies' - 'Williams syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Williams syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Williams syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Williams syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Williams syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Williams syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Williams syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Williams syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Williams syndrome' SubClassOf 'malformation syndrome' - 'Williams syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 7' - 'Williams syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Williams syndrome' SubClassOf 'part_of' some 'Genetic hypertension' + 'Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410090) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Williams syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor stereotypies' + 'Williams syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Williams syndrome' SubClassOf 'malformation syndrome' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_3041 Label: Intellectual disability - balding - patella luxation - acromicria - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'malformation syndrome' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'malformation syndrome' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_264992 Label: Genetic interstitial lung disease - 'Genetic interstitial lung disease' SubClassOf 'group of disorders' + 'Genetic interstitial lung disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3042 Label: Intellectual disability - cataracts - calcified pinnae - myopathy - 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'malformation syndrome' - 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'malformation syndrome' + 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_906 Label: Wiskott-Aldrich syndrome - 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Dense granule disease' - 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Wiskott-Aldrich syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Wiskott-Aldrich syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wiskott-Aldrich syndrome' SubClassOf 'disease' + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wiskott-Aldrich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf 'disease' + 'Wiskott-Aldrich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' + 'Wiskott-Aldrich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dense granule disease' Class: http://www.orpha.net/ORDO/Orphanet_901 Label: Wells syndrome - 'Wells syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wells syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Wells syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Wells syndrome' SubClassOf 'disease' - 'Wells syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Wells syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Wells syndrome' SubClassOf 'disease' + 'Wells syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Wells syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3044 Label: Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'malformation syndrome' + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'malformation syndrome' + 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_900 Label: Granulomatosis with polyangiitis - 'Granulomatosis with polyangiitis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Granulomatosis with polyangiitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Granulomatosis with polyangiitis' SubClassOf 'disease' - 'Granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Granulomatosis with polyangiitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' - 'Granulomatosis with polyangiitis' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf 'disease' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.49"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Granulomatosis with polyangiitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_903 Label: Von Willebrand disease - 'Von Willebrand disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Von Willebrand disease' SubClassOf 'disease' - 'Von Willebrand disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Von Willebrand disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Von Willebrand disease' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Von Willebrand disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Von Willebrand disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Willebrand disease' SubClassOf 'disease' + 'Von Willebrand disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Willebrand disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Von Willebrand disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_159740 Label: potassium inwardly-rectifying channel, subfamily J, member 13 - 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Snowflake vitreoretinal degeneration' - 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Snowflake vitreoretinal degeneration' + 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'potassium inwardly-rectifying channel, subfamily J, member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_902 Label: Werner syndrome - 'Werner syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Werner syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Werner syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Werner syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Werner syndrome' SubClassOf 'part_of' some 'Hereditary poikiloderma' - 'Werner syndrome' SubClassOf 'disease' - 'Werner syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Werner syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Werner syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Werner syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Werner syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Werner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Werner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Werner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Werner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Werner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Werner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' + 'Werner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Werner syndrome' SubClassOf 'disease' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_3047 Label: Blepharophimosis-intellectual disability syndrome, SBBYS type - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'malformation syndrome' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'malformation syndrome' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_64542 Label: Acrofacial dysostosis, Kennedy-Teebi type - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'malformation syndrome' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'malformation syndrome' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64545 Label: Benign idiopathic neonatal seizures - 'Benign idiopathic neonatal seizures' SubClassOf 'disease' - 'Benign idiopathic neonatal seizures' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Benign idiopathic neonatal seizures' SubClassOf 'disease' + 'Benign idiopathic neonatal seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221117 Label: Gerstmann syndrome - 'Gerstmann syndrome' SubClassOf 'disease' - 'Gerstmann syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Gerstmann syndrome' SubClassOf 'disease' + 'Gerstmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_221114 Label: Acquired peripheral movement disorder - 'Acquired peripheral movement disorder' SubClassOf 'group of disorders' + 'Acquired peripheral movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_42062 Label: Iminoglycinuria - 'Iminoglycinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Iminoglycinuria' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Iminoglycinuria' SubClassOf 'disease' - 'Iminoglycinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Iminoglycinuria' SubClassOf 'part_of' some 'Disorder of neutral amino acid transport' + 'Iminoglycinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Iminoglycinuria' SubClassOf 'disease' + 'Iminoglycinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Iminoglycinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neutral amino acid transport' + 'Iminoglycinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Iminoglycinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.68"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98625 Label: Superficial corneal dystrophy - 'Superficial corneal dystrophy' SubClassOf 'group of disorders' + 'Superficial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Superficial corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Superficial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Superficial corneal dystrophy' SubClassOf 'group of disorders' + 'Superficial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_98626 Label: Stromal corneal dystrophy - 'Stromal corneal dystrophy' SubClassOf 'group of disorders' + 'Stromal corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Stromal corneal dystrophy' SubClassOf 'group of disorders' + 'Stromal corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stromal corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98627 Label: Posterior corneal dystrophy - 'Posterior corneal dystrophy' SubClassOf 'group of disorders' + 'Posterior corneal dystrophy' SubClassOf 'group of disorders' + 'Posterior corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Posterior corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Posterior corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Posterior corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98628 Label: Syndromic corneal dystrophy - 'Syndromic corneal dystrophy' SubClassOf 'group of disorders' + 'Syndromic corneal dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_965 Label: Acromegaloid facial appearance syndrome - 'Acromegaloid facial appearance syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Acromegaloid facial appearance syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acromegaloid facial appearance syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromegaloid facial appearance syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromegaloid facial appearance syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Acromegaloid facial appearance syndrome' SubClassOf 'malformation syndrome' + 'Acromegaloid facial appearance syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromegaloid facial appearance syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acromegaloid facial appearance syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acromegaloid facial appearance syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Acromegaloid facial appearance syndrome' SubClassOf 'malformation syndrome' + 'Acromegaloid facial appearance syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_963 Label: Acromegaly - 'Acromegaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acromegaly' SubClassOf 'part_of' some 'Somatotropic adenoma' - 'Acromegaly' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acromegaly' SubClassOf 'disease' - 'Acromegaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Acromegaly' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.39"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Acromegaly' SubClassOf 'disease' + 'Acromegaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acromegaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Somatotropic adenoma' + 'Acromegaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_264978 Label: Drug or radiation exposure-related interstitial lung disease - 'Drug or radiation exposure-related interstitial lung disease' SubClassOf 'group of disorders' + 'Drug or radiation exposure-related interstitial lung disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_957 Label: Acropectorovertebral dysplasia - 'Acropectorovertebral dysplasia' SubClassOf 'part_of' some 'Thoracic malformation' - 'Acropectorovertebral dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acropectorovertebral dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acropectorovertebral dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acropectorovertebral dysplasia' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Acropectorovertebral dysplasia' SubClassOf 'malformation syndrome' + 'Acropectorovertebral dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acropectorovertebral dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acropectorovertebral dysplasia' SubClassOf 'malformation syndrome' + 'Acropectorovertebral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acropectorovertebral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_958 Label: Acro-renal-mandibular syndrome - 'Acro-renal-mandibular syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acro-renal-mandibular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-renal-mandibular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acro-renal-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-renal-mandibular syndrome' SubClassOf 'malformation syndrome' - 'Acro-renal-mandibular syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-mandibular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-renal-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acro-renal-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acro-renal-mandibular syndrome' SubClassOf 'malformation syndrome' + 'Acro-renal-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-renal-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3035 Label: Growth delay - hydrocephaly - lung hypoplasia - 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'malformation syndrome' - 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' + 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171714 Label: Amish infantile epilepsy syndrome - 'Amish infantile epilepsy syndrome' SubClassOf 'part_of' some 'ST3GAL5-CDG' - 'Amish infantile epilepsy syndrome' SubClassOf 'disease' - 'Amish infantile epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amish infantile epilepsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amish infantile epilepsy syndrome' SubClassOf 'disease' + 'Amish infantile epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Amish infantile epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ST3GAL5-CDG' + 'Amish infantile epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Amish infantile epilepsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_955 Label: Acroosteolysis dominant type - 'Acroosteolysis dominant type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acroosteolysis dominant type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acroosteolysis dominant type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acroosteolysis dominant type' SubClassOf 'malformation syndrome' - 'Acroosteolysis dominant type' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Acroosteolysis dominant type' SubClassOf 'part_of' some 'Primary osteolysis' + 'Acroosteolysis dominant type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Acroosteolysis dominant type' SubClassOf 'malformation syndrome' + 'Acroosteolysis dominant type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Acroosteolysis dominant type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3034 Label: Delayed membranous cranial ossification - 'Delayed membranous cranial ossification' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Delayed membranous cranial ossification' SubClassOf 'malformation syndrome' - 'Delayed membranous cranial ossification' SubClassOf 'part_of' some 'Cranial malformation' - 'Delayed membranous cranial ossification' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Delayed membranous cranial ossification' SubClassOf 'malformation syndrome' + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_956 Label: Acro-pectoro-renal dysplasia - 'Acro-pectoro-renal dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acro-pectoro-renal dysplasia' SubClassOf 'part_of' some 'Syndromic breast hypoplasia/aplasia' - 'Acro-pectoro-renal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-pectoro-renal dysplasia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Acro-pectoro-renal dysplasia' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Acro-pectoro-renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-pectoro-renal dysplasia' SubClassOf 'malformation syndrome' + 'Acro-pectoro-renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Acro-pectoro-renal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-pectoro-renal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-pectoro-renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic breast hypoplasia/aplasia' + 'Acro-pectoro-renal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acro-pectoro-renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acro-pectoro-renal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3033 Label: Renal tubular dysgenesis - 'Renal tubular dysgenesis' SubClassOf 'malformation syndrome' - 'Renal tubular dysgenesis' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' + 'Renal tubular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Renal tubular dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121340 Label: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa - 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' - 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' - 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile or adult CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital or early infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_264984 Label: Exposure-related interstitial lung disease - 'Exposure-related interstitial lung disease' SubClassOf 'group of disorders' + 'Exposure-related interstitial lung disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98632 Label: Glaucoma associated with neural crest cell migration anomaly - 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'group of disorders' + 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3032 Label: NPHP3-related Meckel-like syndrome - 'NPHP3-related Meckel-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'malformation syndrome' - 'NPHP3-related Meckel-like syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'NPHP3-related Meckel-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'NPHP3-related Meckel-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'NPHP3-related Meckel-like syndrome' SubClassOf 'malformation syndrome' + 'NPHP3-related Meckel-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_98631 Label: Secondary dysgenetic glaucoma - 'Secondary dysgenetic glaucoma' SubClassOf 'group of disorders' + 'Secondary dysgenetic glaucoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_959 Label: Acro-renal-ocular syndrome - 'Acro-renal-ocular syndrome' SubClassOf 'malformation syndrome' - 'Acro-renal-ocular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-renal-ocular syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acro-renal-ocular syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acro-renal-ocular syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-renal-ocular syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-ocular syndrome' SubClassOf 'malformation syndrome' + 'Acro-renal-ocular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-renal-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-ocular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-renal-ocular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acro-renal-ocular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_98634 Label: Iridogoniodysgenesis - 'Iridogoniodysgenesis' SubClassOf 'group of disorders' + 'Iridogoniodysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98633 Label: Goniodysgenesis - 'Goniodysgenesis' SubClassOf 'group of disorders' + 'Goniodysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159793 Label: nucleophosmin (nucleolar phosphoprotein B23, numatrin) - 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' - 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' - 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'gene' - 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.1"^^http://www.w3.org/2001/XMLSchema#string + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with NPM1 somatic mutations' + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleophosmin (nucleolar phosphoprotein B23, numatrin)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_403322 Label: ER lipid raft associated 1 - 'ER lipid raft associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 62' - 'ER lipid raft associated 1' SubClassOf 'gene' + 'ER lipid raft associated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'ER lipid raft associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 62' + 'ER lipid raft associated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171719 Label: Cutis laxa-Marfanoid syndrome - 'Cutis laxa-Marfanoid syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Cutis laxa-Marfanoid syndrome' SubClassOf 'malformation syndrome' - 'Cutis laxa-Marfanoid syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cutis laxa-Marfanoid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cutis laxa-Marfanoid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutis laxa-Marfanoid syndrome' SubClassOf 'malformation syndrome' + 'Cutis laxa-Marfanoid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_159799 Label: nuclear receptor subfamily 4, group A, member 2 - 'nuclear receptor subfamily 4, group A, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'nuclear receptor subfamily 4, group A, member 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_3038 Label: Delayed speech - facial asymmetry - strabismus - ear lobe creases - 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'malformation syndrome' - 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'malformation syndrome' + 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_221109 Label: Cranial neuralgia - 'Cranial neuralgia' SubClassOf 'group of disorders' + 'Cranial neuralgia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121344 Label: adenosine monophosphate deaminase 1 - 'adenosine monophosphate deaminase 1' SubClassOf 'gene' - 'adenosine monophosphate deaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenosine monophosphate deaminase deficiency' + 'adenosine monophosphate deaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine monophosphate deaminase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine monophosphate deaminase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenosine monophosphate deaminase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_221106 Label: Isolated facial myokymia - 'Isolated facial myokymia' SubClassOf 'disease' - 'Isolated facial myokymia' SubClassOf 'part_of' some 'Acquired peripheral movement disorder' + 'Isolated facial myokymia' SubClassOf 'disease' + 'Isolated facial myokymia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_98615 Label: Pigmented conjunctival lesion - 'Pigmented conjunctival lesion' SubClassOf 'group of disorders' + 'Pigmented conjunctival lesion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_970 Label: Hereditary sensory and autonomic neuropathy type 2 - 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_102023 Label: Typhus-group rickettsiosis - 'Typhus-group rickettsiosis' SubClassOf 'group of disorders' + 'Typhus-group rickettsiosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98616 Label: Conjunctival tumor - 'Conjunctival tumor' SubClassOf 'group of disorders' + 'Conjunctival tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102022 Label: Spotted fever rickettsiosis - 'Spotted fever rickettsiosis' SubClassOf 'group of disorders' + 'Spotted fever rickettsiosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98613 Label: Conjunctival telangiectasia - 'Conjunctival telangiectasia' SubClassOf 'group of disorders' + 'Conjunctival telangiectasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_972 Label: Hereditary continuous muscle fiber activity - 'Hereditary continuous muscle fiber activity' SubClassOf 'disease' - 'Hereditary continuous muscle fiber activity' SubClassOf 'part_of' some 'Non-dystrophic myopathy' + 'Hereditary continuous muscle fiber activity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' + 'Hereditary continuous muscle fiber activity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_971 Label: Acrorenal syndrome - 'Acrorenal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrorenal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrorenal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrorenal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrorenal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrorenal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Acrorenal syndrome' SubClassOf 'malformation syndrome' + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Acrorenal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrorenal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrorenal syndrome' SubClassOf 'malformation syndrome' + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrorenal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_102024 Label: HHV-8 related disorders - 'HHV-8 related disorders' SubClassOf 'group of disorders' + 'HHV-8 related disorders' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98614 Label: Conjunctival lymphangiectasia - 'Conjunctival lymphangiectasia' SubClassOf 'group of disorders' + 'Conjunctival lymphangiectasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98619 Label: Rare isolated myopia - 'Rare isolated myopia' SubClassOf 'disease' - 'Rare isolated myopia' SubClassOf 'part_of' some 'Rare refraction anomaly' - 'Rare isolated myopia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rare isolated myopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rare isolated myopia' SubClassOf 'part_of' some 'Rare genetic refraction anomaly' + 'Rare isolated myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare isolated myopia' SubClassOf 'disease' + 'Rare isolated myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic refraction anomaly' + 'Rare isolated myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare refraction anomaly' + 'Rare isolated myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_974 Label: Adams-Oliver syndrome - 'Adams-Oliver syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Adams-Oliver syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adams-Oliver syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adams-Oliver syndrome' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Adams-Oliver syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Adams-Oliver syndrome' SubClassOf 'malformation syndrome' - 'Adams-Oliver syndrome' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Adams-Oliver syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Adams-Oliver syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Adams-Oliver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Adams-Oliver syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Adams-Oliver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adams-Oliver syndrome' SubClassOf 'malformation syndrome' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_973 Label: Congenital absence/hypoplasia of fingers excluding thumb, unilateral - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'clinical subtype' - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of fingers excluding thumb' - 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of fingers excluding thumb' Class: http://www.orpha.net/ORDO/Orphanet_98617 Label: Bulbar conjunctival dermoid or conjunctival dermolipoma - 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'group of disorders' + 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_976 Label: Adenine phosphoribosyltransferase deficiency - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'disease' - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'disease' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_102021 Label: Rickettsial disease - 'Rickettsial disease' SubClassOf 'group of disorders' + 'Rickettsial disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264968 Label: Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease - 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98618 Label: Rare refraction anomaly - 'Rare refraction anomaly' SubClassOf 'group of disorders' + 'Rare refraction anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_102020 Label: Autosomal monosomy - 'Autosomal monosomy' SubClassOf 'group of disorders' + 'Autosomal monosomy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121330 Label: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa - 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' - 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' - 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile or adult CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital or early infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_264973 Label: Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis - 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_968 Label: Acromesomelic dysplasia, Hunter-Thomson type - 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'malformation syndrome' + 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'malformation syndrome' + 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_969 Label: Acromicric dysplasia - 'Acromicric dysplasia' SubClassOf 'malformation syndrome' - 'Acromicric dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromicric dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Acromicric dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acromicric dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acromicric dysplasia' SubClassOf 'malformation syndrome' + 'Acromicric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromicric dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Acromicric dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acromicric dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_171703 Label: Microcephaly - polymicrogyria - corpus callosum agenesis - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'malformation syndrome' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'malformation syndrome' + 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98623 Label: Syndromic keratoconus - 'Syndromic keratoconus' SubClassOf 'group of disorders' + 'Syndromic keratoconus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98622 Label: Syndromic hyperopia - 'Syndromic hyperopia' SubClassOf 'group of disorders' + 'Syndromic hyperopia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_396032 Label: cat eye syndrome chromosome region, candidate 1 - 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vasculitis due to ADA2 deficiency' - 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'gene' - 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sneddon syndrome' + 'cat eye syndrome chromosome region, candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cat eye syndrome chromosome region, candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cat eye syndrome chromosome region, candidate 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vasculitis due to ADA2 deficiency' + 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sneddon syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98621 Label: Rare hyperopia and astigmatism - 'Rare hyperopia and astigmatism' SubClassOf 'group of disorders' + 'Rare hyperopia and astigmatism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3021 Label: RAPADILINO syndrome - 'RAPADILINO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'RAPADILINO syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'RAPADILINO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'RAPADILINO syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'RAPADILINO syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'RAPADILINO syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'RAPADILINO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'RAPADILINO syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'RAPADILINO syndrome' SubClassOf 'malformation syndrome' + 'RAPADILINO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'RAPADILINO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'RAPADILINO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'RAPADILINO syndrome' SubClassOf 'malformation syndrome' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'RAPADILINO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_171700 Label: Diffuse panbronchiolitis - 'Diffuse panbronchiolitis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Diffuse panbronchiolitis' SubClassOf 'disease' - 'Diffuse panbronchiolitis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse panbronchiolitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Diffuse panbronchiolitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Diffuse panbronchiolitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Diffuse panbronchiolitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Diffuse panbronchiolitis' SubClassOf 'disease' + 'Diffuse panbronchiolitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse panbronchiolitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98620 Label: Syndromic myopia - 'Syndromic myopia' SubClassOf 'group of disorders' + 'Syndromic myopia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3020 Label: Ramsay-Hunt syndrome - 'Ramsay-Hunt syndrome' SubClassOf 'disease' - 'Ramsay-Hunt syndrome' SubClassOf 'part_of' some 'Rare disease with myoclonus as a major feature' - 'Ramsay-Hunt syndrome' SubClassOf 'part_of' some 'Rare genetic disease with myoclonus as a major feature' + 'Ramsay-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with myoclonus as a major feature' + 'Ramsay-Hunt syndrome' SubClassOf 'disease' + 'Ramsay-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease with myoclonus as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_171709 Label: Male infertility due to globozoospermia - 'Male infertility due to globozoospermia' SubClassOf 'part_of' some 'Male infertility with teratozoospermia due to single gene mutation' - 'Male infertility due to globozoospermia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Male infertility due to globozoospermia' SubClassOf 'clinical subtype' - 'Male infertility due to globozoospermia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Male infertility due to globozoospermia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with teratozoospermia due to single gene mutation' + 'Male infertility due to globozoospermia' SubClassOf 'clinical subtype' + 'Male infertility due to globozoospermia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Male infertility due to globozoospermia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_3027 Label: Caudal regression sequence - 'Caudal regression sequence' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Caudal regression sequence' SubClassOf 'malformation syndrome' - 'Caudal regression sequence' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Caudal regression sequence' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Caudal regression sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Caudal regression sequence' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Caudal regression sequence' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Caudal regression sequence' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Caudal regression sequence' SubClassOf 'has_inheritance' some 'sporadic' + 'Caudal regression sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Caudal regression sequence' SubClassOf 'malformation syndrome' + 'Caudal regression sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Caudal regression sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Caudal regression sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Caudal regression sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Caudal regression sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Caudal regression sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Caudal regression sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Caudal regression sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_121334 Label: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa - 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' - 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' - 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'gene' - 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cree leukoencephalopathy' + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile or adult CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital or early infantile CACH syndrome' + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarioleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_166055 Label: Cdc42 guanine nucleotide exchange factor (GEF) 9 - 'Cdc42 guanine nucleotide exchange factor (GEF) 9' SubClassOf 'gene' - 'Cdc42 guanine nucleotide exchange factor (GEF) 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperekplexia - epilepsy' + 'Cdc42 guanine nucleotide exchange factor (GEF) 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.1"^^http://www.w3.org/2001/XMLSchema#string + 'Cdc42 guanine nucleotide exchange factor (GEF) 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hyperekplexia - epilepsy' + 'Cdc42 guanine nucleotide exchange factor (GEF) 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_171706 Label: Short stature-delayed bone age due to thyroid hormone metabolism deficiency - 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'part_of' some 'Peripheral hypothyroidism' - 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'disease' - 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'disease' + 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_403334 Label: ubiquitin specific peptidase 8 - 'ubiquitin specific peptidase 8' SubClassOf 'gene' - 'ubiquitin specific peptidase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 59' + 'ubiquitin specific peptidase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin specific peptidase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin specific peptidase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 59' Class: http://www.orpha.net/ORDO/Orphanet_3026 Label: Radial ray hypoplasia - choanal atresia - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'malformation syndrome' - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Radial ray hypoplasia - choanal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Radial ray hypoplasia - choanal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Radial ray hypoplasia - choanal atresia' SubClassOf 'malformation syndrome' + 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Radial ray hypoplasia - choanal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_140653 Label: Neuro-ophthalmological disease - 'Neuro-ophthalmological disease' SubClassOf 'group of disorders' + 'Neuro-ophthalmological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_943 Label: Malonic aciduria - 'Malonic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Malonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Malonic aciduria' SubClassOf 'disease' - 'Malonic aciduria' SubClassOf 'part_of' some 'Metabolic disease due to other fatty acid oxidation disorder' - 'Malonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Malonic aciduria' SubClassOf 'disease' + 'Malonic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Malonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Malonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease due to other fatty acid oxidation disorder' + 'Malonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_124094 Label: paired box 6 - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated optic nerve hypoplasia' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated aniridia' - 'paired box 6' SubClassOf 'gene' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aniridia - cerebellar ataxia - intellectual disability' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant keratitis' - 'paired box 6' SubClassOf 'Role in the phenotype of' some 'WAGR syndrome' - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia - presenile cataract' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated optic nerve hypoplasia' + 'paired box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated aniridia' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aniridia - cerebellar ataxia - intellectual disability' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant keratitis' + 'paired box 6' SubClassOf 'Role in the phenotype of' some 'WAGR syndrome' + 'paired box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia - presenile cataract' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_941 Label: D-glyceric aciduria - 'D-glyceric aciduria' SubClassOf 'disease' - 'D-glyceric aciduria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'D-glyceric aciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'D-glyceric aciduria' SubClassOf 'part_of' some 'Disorder of glyoxylate metabolism' - 'D-glyceric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'D-glyceric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'D-glyceric aciduria' SubClassOf 'disease' + 'D-glyceric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glyoxylate metabolism' + 'D-glyceric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_264955 Label: Langerhans cell histiocytosis in childhood and adulthood - 'Langerhans cell histiocytosis in childhood and adulthood' SubClassOf 'group of disorders' + 'Langerhans cell histiocytosis in childhood and adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98646 Label: Renal disease with cataract - 'Renal disease with cataract' SubClassOf 'group of disorders' + 'Renal disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124090 Label: paired box 3 - 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-deafness-hand syndrome' - 'paired box 3' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' - 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 1' - 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 3' - 'paired box 3' SubClassOf 'gene' + 'paired box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36.1"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-deafness-hand syndrome' + 'paired box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 3' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' + 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 1' + 'paired box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 3' Class: http://www.orpha.net/ORDO/Orphanet_98647 Label: Cardiac disease with cataract - 'Cardiac disease with cataract' SubClassOf 'group of disorders' + 'Cardiac disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98648 Label: Musculoskeletal disease with cataract - 'Musculoskeletal disease with cataract' SubClassOf 'group of disorders' + 'Musculoskeletal disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98649 Label: Dentocutaneous disease with cataract - 'Dentocutaneous disease with cataract' SubClassOf 'group of disorders' + 'Dentocutaneous disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_939 Label: 3-hydroxyisobutyric aciduria - '3-hydroxyisobutyric aciduria' SubClassOf 'disease' - '3-hydroxyisobutyric aciduria' SubClassOf 'part_of' some 'Classic organic aciduria' + '3-hydroxyisobutyric aciduria' SubClassOf 'disease' + '3-hydroxyisobutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_3010 Label: Qazi-Markouizos syndrome - 'Qazi-Markouizos syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Qazi-Markouizos syndrome' SubClassOf 'disease' - 'Qazi-Markouizos syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Qazi-Markouizos syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Qazi-Markouizos syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Qazi-Markouizos syndrome' SubClassOf 'disease' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Qazi-Markouizos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Qazi-Markouizos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Qazi-Markouizos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98653 Label: Lens position anomaly - 'Lens position anomaly' SubClassOf 'group of disorders' + 'Lens position anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_166029 Label: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia - 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98655 Label: Lens shape anomaly - 'Lens shape anomaly' SubClassOf 'group of disorders' + 'Lens shape anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_266184 Label: lysyl-tRNA synthetase - 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'lysyl-tRNA synthetase' SubClassOf 'gene' - 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' + 'lysyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'lysyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' Class: http://www.orpha.net/ORDO/Orphanet_98650 Label: Craniofacial anomaly with cataract - 'Craniofacial anomaly with cataract' SubClassOf 'group of disorders' + 'Craniofacial anomaly with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_935 Label: Short-limb skeletal dysplasia with severe combined immunodeficiency - 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'disease' + 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'disease' + 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_298784 Label: uncoupling protein 2 (mitochondrial, proton carrier) - 'uncoupling protein 2 (mitochondrial, proton carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to UCP2 deficiency' - 'uncoupling protein 2 (mitochondrial, proton carrier)' SubClassOf 'gene' + 'uncoupling protein 2 (mitochondrial, proton carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'uncoupling protein 2 (mitochondrial, proton carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hyperinsulinism due to UCP2 deficiency' + 'uncoupling protein 2 (mitochondrial, proton carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166024 Label: Multiple epiphyseal dysplasia, Al-Gazali type - 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159773 Label: mitochondrially encoded ATP synthase 8 - 'mitochondrially encoded ATP synthase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' - 'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' - 'mitochondrially encoded ATP synthase 8' SubClassOf 'gene' + 'mitochondrially encoded ATP synthase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' + 'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' + 'mitochondrially encoded ATP synthase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded ATP synthase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121360 Label: ankyrin 2, neuronal - 'ankyrin 2, neuronal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'ankyrin 2, neuronal' SubClassOf 'gene' + 'ankyrin 2, neuronal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin 2, neuronal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'ankyrin 2, neuronal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25-q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98652 Label: Lens size anomaly - 'Lens size anomaly' SubClassOf 'group of disorders' + 'Lens size anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121363 Label: ANKH inorganic pyrophosphate transport regulator - 'ANKH inorganic pyrophosphate transport regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniometaphyseal dysplasia' - 'ANKH inorganic pyrophosphate transport regulator' SubClassOf 'gene' - 'ANKH inorganic pyrophosphate transport regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial calcium pyrophosphate deposition' + 'ANKH inorganic pyrophosphate transport regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Craniometaphyseal dysplasia' + 'ANKH inorganic pyrophosphate transport regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ANKH inorganic pyrophosphate transport regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial calcium pyrophosphate deposition' + 'ANKH inorganic pyrophosphate transport regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3011 Label: Spastic tetraplegia - retinitis pigmentosa - intellectual disability - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'disease' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'disease' + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3018 Label: Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications - 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'part_of' some 'Rare systemic disease' - 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'malformation syndrome' - 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'malformation syndrome' + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_3016 Label: Radius absent - anogenital anomalies - 'Radius absent - anogenital anomalies' SubClassOf 'malformation syndrome' - 'Radius absent - anogenital anomalies' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Radius absent - anogenital anomalies' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Radius absent - anogenital anomalies' SubClassOf 'malformation syndrome' + 'Radius absent - anogenital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Radius absent - anogenital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_3015 Label: Radio-renal syndrome - 'Radio-renal syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Radio-renal syndrome' SubClassOf 'malformation syndrome' - 'Radio-renal syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Radio-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Radio-renal syndrome' SubClassOf 'malformation syndrome' + 'Radio-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_121369 Label: anthrax toxin receptor 2 - 'anthrax toxin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile hyaline fibromatosis' - 'anthrax toxin receptor 2' SubClassOf 'gene' - 'anthrax toxin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile systemic hyalinosis' + 'anthrax toxin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anthrax toxin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile hyaline fibromatosis' + 'anthrax toxin receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'anthrax toxin receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile systemic hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_3019 Label: Ramon syndrome - 'Ramon syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Ramon syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Ramon syndrome' SubClassOf 'malformation syndrome' - 'Ramon syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Ramon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ramon syndrome' SubClassOf 'malformation syndrome' + 'Ramon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_403350 Label: WD repeat domain 48 - 'WD repeat domain 48' SubClassOf 'gene' - 'WD repeat domain 48' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 60' + 'WD repeat domain 48' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.33"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 48' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 60' + 'WD repeat domain 48' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117705 Label: acyl-CoA dehydrogenase, C-2 to C-3 short chain - 'acyl-CoA dehydrogenase, C-2 to C-3 short chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short chain acyl-CoA dehydrogenase deficiency' - 'acyl-CoA dehydrogenase, C-2 to C-3 short chain' SubClassOf 'gene' + 'acyl-CoA dehydrogenase, C-2 to C-3 short chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short chain acyl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase, C-2 to C-3 short chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase, C-2 to C-3 short chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_952 Label: Acrofacial dysostosis, Weyers type - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'has_prevalence' some 'Unknown' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'malformation syndrome' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrofacial dysostosis, Weyers type' SubClassOf 'part_of' some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Weyers type' SubClassOf 'malformation syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrofacial dysostosis, Weyers type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_264944 Label: Secondary interstitial lung disease in childhood and adulthood - 'Secondary interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124080 Label: parkin RBR E3 ubiquitin protein ligase - 'parkin RBR E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'parkin RBR E3 ubiquitin protein ligase' SubClassOf 'gene' + 'parkin RBR E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'parkin RBR E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'parkin RBR E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.2-q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117700 Label: acyl-CoA dehydrogenase, C-4 to C-12 straight chain - 'acyl-CoA dehydrogenase, C-4 to C-12 straight chain' SubClassOf 'gene' - 'acyl-CoA dehydrogenase, C-4 to C-12 straight chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Medium chain acyl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase, C-4 to C-12 straight chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase, C-4 to C-12 straight chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA dehydrogenase, C-4 to C-12 straight chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Medium chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98639 Label: Lens and zonula anomaly - 'Lens and zonula anomaly' SubClassOf 'group of disorders' + 'Lens and zonula anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98637 Label: Secondary glaucoma due to a proliferation and differentiation anomaly - 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'group of disorders' + 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98638 Label: Rare disease with glaucoma as a major feature - 'Rare disease with glaucoma as a major feature' SubClassOf 'group of disorders' + 'Rare disease with glaucoma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_264949 Label: Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease - 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98635 Label: Corneogoniodysgenesis - 'Corneogoniodysgenesis' SubClassOf 'group of disorders' + 'Corneogoniodysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_950 Label: Acrodysostosis - 'Acrodysostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrodysostosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Acrodysostosis' SubClassOf 'group of disorders' - 'Acrodysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrodysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acrodysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98636 Label: Corneoiridogoniodysgenesis - 'Corneoiridogoniodysgenesis' SubClassOf 'group of disorders' + 'Corneoiridogoniodysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98645 Label: Cerebral disease with cataract - 'Cerebral disease with cataract' SubClassOf 'group of disorders' + 'Cerebral disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124088 Label: paired box 2 - 'paired box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal coloboma syndrome' - 'paired box 2' SubClassOf 'gene' - 'paired box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal hypoplasia' + 'paired box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal coloboma syndrome' + 'paired box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'paired box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 2' SubClassOf 'Major susceptibility factor in' some 'Bilateral renal hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_949 Label: Acrocraniofacial dysostosis - 'Acrocraniofacial dysostosis' SubClassOf 'malformation syndrome' - 'Acrocraniofacial dysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrocraniofacial dysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrocraniofacial dysostosis' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Acrocraniofacial dysostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Acrocraniofacial dysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrocraniofacial dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrocraniofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acrocraniofacial dysostosis' SubClassOf 'malformation syndrome' + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Acrocraniofacial dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrocraniofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrocraniofacial dysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98644 Label: Cataract associated with a metabolic disease - 'Cataract associated with a metabolic disease' SubClassOf 'group of disorders' + 'Cataract associated with a metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98643 Label: Systemic disease with cataract - 'Systemic disease with cataract' SubClassOf 'group of disorders' + 'Systemic disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98642 Label: Chromosomal anomaly with cataract - 'Chromosomal anomaly with cataract' SubClassOf 'group of disorders' + 'Chromosomal anomaly with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98641 Label: Syndromic cataract - 'Syndromic cataract' SubClassOf 'group of disorders' + 'Syndromic cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159785 Label: v-myc avian myelocytomatosis viral oncogene homolog - 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf 'gene' - 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Burkitt lymphoma' + 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf 'Part of a fusion gene in' some 'Burkitt lymphoma' + 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-myc avian myelocytomatosis viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124084 Label: parkinson protein 7 - 'parkinson protein 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' - 'parkinson protein 7' SubClassOf 'gene' - 'parkinson protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'parkinson protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.23"^^http://www.w3.org/2001/XMLSchema#string + 'parkinson protein 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' + 'parkinson protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'parkinson protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_121352 Label: aminomethyltransferase - 'aminomethyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' - 'aminomethyltransferase' SubClassOf 'gene' - 'aminomethyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' - 'aminomethyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' + 'aminomethyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neonatal glycine encephalopathy' + 'aminomethyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Atypical glycine encephalopathy' + 'aminomethyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'aminomethyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminomethyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_945 Label: Acalvaria - 'Acalvaria' SubClassOf 'has_prevalence' some 'Unknown' - 'Acalvaria' SubClassOf 'part_of' some 'Cranial malformation' - 'Acalvaria' SubClassOf 'has_inheritance' some 'sporadic' - 'Acalvaria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acalvaria' SubClassOf 'malformation syndrome' + 'Acalvaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acalvaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acalvaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acalvaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Acalvaria' SubClassOf 'malformation syndrome' + 'Acalvaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_3000 Label: Familial male-limited precocious puberty - 'Familial male-limited precocious puberty' SubClassOf 'part_of' some 'Precocious puberty' - 'Familial male-limited precocious puberty' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial male-limited precocious puberty' SubClassOf 'disease' - 'Familial male-limited precocious puberty' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial male-limited precocious puberty' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial male-limited precocious puberty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial male-limited precocious puberty' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial male-limited precocious puberty' SubClassOf 'disease' + 'Familial male-limited precocious puberty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial male-limited precocious puberty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_166038 Label: Metaphyseal chondrodysplasia, Kaitila type - 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98640 Label: Rare cataract - 'Rare cataract' SubClassOf 'group of disorders' + 'Rare cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_946 Label: Acrocephalosyndactyly - 'Acrocephalosyndactyly' SubClassOf 'group of disorders' + 'Acrocephalosyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acrocephalosyndactyly' SubClassOf 'group of disorders' + 'Acrocephalosyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocephalosyndactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrocephalosyndactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3003 Label: Pyknoachondrogenesis - 'Pyknoachondrogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyknoachondrogenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyknoachondrogenesis' SubClassOf 'malformation syndrome' - 'Pyknoachondrogenesis' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Pyknoachondrogenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pyknoachondrogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyknoachondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyknoachondrogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyknoachondrogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' + 'Pyknoachondrogenesis' SubClassOf 'malformation syndrome' + 'Pyknoachondrogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121350 Label: adenosine monophosphate deaminase 3 - 'adenosine monophosphate deaminase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenosine monophosphate deaminase deficiency' - 'adenosine monophosphate deaminase 3' SubClassOf 'gene' + 'adenosine monophosphate deaminase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine monophosphate deaminase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenosine monophosphate deaminase deficiency' + 'adenosine monophosphate deaminase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_166035 Label: Metaphyseal chondrodysplasia - retinitis pigmentosa - 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3002 Label: Immune thrombocytopenic purpura - 'Immune thrombocytopenic purpura' SubClassOf 'disease' - 'Immune thrombocytopenic purpura' SubClassOf 'has_inheritance' some 'sporadic' - 'Immune thrombocytopenic purpura' SubClassOf 'part_of' some 'Autoimmune thrombocytopenia' - 'Immune thrombocytopenic purpura' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Immune thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf 'disease' + 'Immune thrombocytopenic purpura' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune thrombocytopenia' + 'Immune thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Immune thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3005 Label: Pyle disease - 'Pyle disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyle disease' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Pyle disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyle disease' SubClassOf 'disease' - 'Pyle disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pyle disease' SubClassOf 'disease' + 'Pyle disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Pyle disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyle disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyle disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyle disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121356 Label: ankyrin 1, erythrocytic - 'ankyrin 1, erythrocytic' SubClassOf 'Role in the phenotype of' some '8p11.2 deletion syndrome' - 'ankyrin 1, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'ankyrin 1, erythrocytic' SubClassOf 'gene' + 'ankyrin 1, erythrocytic' SubClassOf 'Role in the phenotype of' some '8p11.2 deletion syndrome' + 'ankyrin 1, erythrocytic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin 1, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'ankyrin 1, erythrocytic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3004 Label: Mirror polydactyly - vertebral segmentation - limbs defects - 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'malformation syndrome' - 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'malformation syndrome' + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3006 Label: Pyridoxine-dependent epilepsy - 'Pyridoxine-dependent epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyridoxine-dependent epilepsy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Pyridoxine-dependent epilepsy' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - 'Pyridoxine-dependent epilepsy' SubClassOf 'disease' - 'Pyridoxine-dependent epilepsy' SubClassOf 'part_of' some 'Disorder of pyridoxine metabolism' - 'Pyridoxine-dependent epilepsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyridoxine-dependent epilepsy' SubClassOf 'has_prevalence' some 'Unknown' + 'Pyridoxine-dependent epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + 'Pyridoxine-dependent epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyridoxine metabolism' + 'Pyridoxine-dependent epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyridoxine-dependent epilepsy' SubClassOf 'disease' + 'Pyridoxine-dependent epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyridoxine-dependent epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyridoxine-dependent epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyridoxine-dependent epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159788 Label: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'gene' - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrotic ectodermal dysplasia with immunodeficiency' + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q13"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypohidrotic ectodermal dysplasia with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_166032 Label: Multiple epiphyseal dysplasia, with miniepiphyses - 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3008 Label: Pyruvate carboxylase deficiency - 'Pyruvate carboxylase deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' - 'Pyruvate carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pyruvate carboxylase deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Pyruvate carboxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pyruvate carboxylase deficiency' SubClassOf 'disease' - 'Pyruvate carboxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pyruvate carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gluconeogenesis disorder' + 'Pyruvate carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pyruvate carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pyruvate carboxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pyruvate carboxylase deficiency' SubClassOf 'disease' + 'Pyruvate carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyruvate carboxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_156601 Label: Rare genetic hepatic disease - 'Rare genetic hepatic disease' SubClassOf 'group of disorders' + 'Rare genetic hepatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_292401 Label: kinesin family member 11 - 'kinesin family member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - lymphedema - chorioretinopathy' - 'kinesin family member 11' SubClassOf 'gene' + 'kinesin family member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - lymphedema - chorioretinopathy' + 'kinesin family member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_156604 Label: Genetic parenchymatous liver disease - 'Genetic parenchymatous liver disease' SubClassOf 'group of disorders' + 'Genetic parenchymatous liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_266150 Label: pre-mRNA processing factor 6 - 'pre-mRNA processing factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'pre-mRNA processing factor 6' SubClassOf 'gene' + 'pre-mRNA processing factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pre-mRNA processing factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_329918 Label: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis - 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'clinical subtype' - 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'part_of' some 'Primary membranoproliferative glomerulonephritis' + 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'clinical subtype' + 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_314759 Label: Mixed functioning pituitary adenoma - 'Mixed functioning pituitary adenoma' SubClassOf 'group of disorders' + 'Mixed functioning pituitary adenoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225689 Label: Amino acid or protein metabolism disease with epilepsy - 'Amino acid or protein metabolism disease with epilepsy' SubClassOf 'group of disorders' + 'Amino acid or protein metabolism disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_360224 Label: guanine nucleotide binding protein (G protein), alpha 11 (Gq class) - 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypocalcemia' - 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf 'gene' - 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 2' + 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial hypocalciuric hypercalcemia type 2' + 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autosomal dominant hypocalcemia' + 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha 11 (Gq class)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_292410 Label: elongation factor Tu GTP binding domain containing 2 - 'elongation factor Tu GTP binding domain containing 2' SubClassOf 'gene' - 'elongation factor Tu GTP binding domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibulofacial dysostosis-microcephaly syndrome' + 'elongation factor Tu GTP binding domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'elongation factor Tu GTP binding domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'elongation factor Tu GTP binding domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibulofacial dysostosis-microcephaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_223546 Label: NIPA-like domain containing 4 - 'NIPA-like domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'NIPA-like domain containing 4' SubClassOf 'gene' - 'NIPA-like domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' + 'NIPA-like domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIPA-like domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'NIPA-like domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'NIPA-like domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' Class: http://www.orpha.net/ORDO/Orphanet_314753 Label: Functioning pituitary adenoma - 'Functioning pituitary adenoma' SubClassOf 'group of disorders' + 'Functioning pituitary adenoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225681 Label: Lysosomal disease with epilepsy - 'Lysosomal disease with epilepsy' SubClassOf 'group of disorders' + 'Lysosomal disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117741 Label: acid phosphatase 2, lysosomal - 'acid phosphatase 2, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acid phosphatase deficiency' - 'acid phosphatase 2, lysosomal' SubClassOf 'gene' + 'acid phosphatase 2, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acid phosphatase 2, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acid phosphatase deficiency' + 'acid phosphatase 2, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225686 Label: Peroxisomal disease with epilepsy - 'Peroxisomal disease with epilepsy' SubClassOf 'group of disorders' + 'Peroxisomal disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117743 Label: acyl-CoA synthetase long-chain family member 4 - 'acyl-CoA synthetase long-chain family member 4' SubClassOf 'gene' - 'acyl-CoA synthetase long-chain family member 4' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' - 'acyl-CoA synthetase long-chain family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'acyl-CoA synthetase long-chain family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3-q23"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA synthetase long-chain family member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA synthetase long-chain family member 4' SubClassOf 'Role in the phenotype of' some 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' + 'acyl-CoA synthetase long-chain family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_292419 Label: toll-like receptor adaptor molecule 1 - 'toll-like receptor adaptor molecule 1' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' - 'toll-like receptor adaptor molecule 1' SubClassOf 'gene' + 'toll-like receptor adaptor molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'toll-like receptor adaptor molecule 1' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' + 'toll-like receptor adaptor molecule 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156610 Label: Rare genetic respiratory disease - 'Rare genetic respiratory disease' SubClassOf 'group of disorders' + 'Rare genetic respiratory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_266162 Label: WD repeat containing, antisense to TP53 - 'WD repeat containing, antisense to TP53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'WD repeat containing, antisense to TP53' SubClassOf 'gene' + 'WD repeat containing, antisense to TP53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'WD repeat containing, antisense to TP53' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat containing, antisense to TP53' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_360230 Label: makorin ring finger protein 3 - 'makorin ring finger protein 3' SubClassOf 'gene' - 'makorin ring finger protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic central precocious puberty' + 'makorin ring finger protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q11-q13"^^http://www.w3.org/2001/XMLSchema#string + 'makorin ring finger protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'makorin ring finger protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Idiopathic central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_314749 Label: Rare disease with Cushing syndrome as a major feature - 'Rare disease with Cushing syndrome as a major feature' SubClassOf 'group of disorders' + 'Rare disease with Cushing syndrome as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156607 Label: Genetic biliary tract disease - 'Genetic biliary tract disease' SubClassOf 'group of disorders' + 'Genetic biliary tract disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117738 Label: acyl-CoA oxidase 1, palmitoyl - 'acyl-CoA oxidase 1, palmitoyl' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peroxisomal acyl-CoA oxidase deficiency' - 'acyl-CoA oxidase 1, palmitoyl' SubClassOf 'gene' + 'acyl-CoA oxidase 1, palmitoyl' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA oxidase 1, palmitoyl' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peroxisomal acyl-CoA oxidase deficiency' + 'acyl-CoA oxidase 1, palmitoyl' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_353576 Label: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle - 'ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle' SubClassOf 'gene' - 'ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225692 Label: Metal transport or utilization disorder with epilepsy - 'Metal transport or utilization disorder with epilepsy' SubClassOf 'group of disorders' + 'Metal transport or utilization disorder with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225696 Label: Energy metabolism disorder with epilepsy - 'Energy metabolism disorder with epilepsy' SubClassOf 'group of disorders' + 'Energy metabolism disorder with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261311 Label: 20q13.33 microdeletion syndrome - '20q13.33 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '20q13.33 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 20' - '20q13.33 microdeletion syndrome' SubClassOf 'malformation syndrome' + '20q13.33 microdeletion syndrome' SubClassOf 'malformation syndrome' + '20q13.33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_98784 Label: Autosomal dominant nocturnal frontal lobe epilepsy - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'disease' - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'disease' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_401078 Label: patched domain containing 1 - 'patched domain containing 1' SubClassOf 'gene' - 'patched domain containing 1' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual disability' + 'patched domain containing 1' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual disability' + 'patched domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.13"^^http://www.w3.org/2001/XMLSchema#string + 'patched domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_292425 Label: TNF receptor-associated factor 3 - 'TNF receptor-associated factor 3' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' - 'TNF receptor-associated factor 3' SubClassOf 'gene' + 'TNF receptor-associated factor 3' SubClassOf 'Major susceptibility factor in' some 'Herpetic encephalitis' + 'TNF receptor-associated factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TNF receptor-associated factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117728 Label: angiotensin I converting enzyme - 'angiotensin I converting enzyme' SubClassOf 'gene' - 'angiotensin I converting enzyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'angiotensin I converting enzyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiotensin I converting enzyme' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'angiotensin I converting enzyme' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_314777 Label: Familial isolated pituitary adenoma - 'Familial isolated pituitary adenoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated pituitary adenoma' SubClassOf 'disease' - 'Familial isolated pituitary adenoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial isolated pituitary adenoma' SubClassOf 'part_of' some 'Pituitary adenoma' - 'Familial isolated pituitary adenoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial isolated pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary adenoma' + 'Familial isolated pituitary adenoma' SubClassOf 'disease' + 'Familial isolated pituitary adenoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial isolated pituitary adenoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_117724 Label: acetyl-CoA acetyltransferase 1 - 'acetyl-CoA acetyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ketoacidosis due to beta-ketothiolase deficiency' - 'acetyl-CoA acetyltransferase 1' SubClassOf 'gene' + 'acetyl-CoA acetyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ketoacidosis due to beta-ketothiolase deficiency' + 'acetyl-CoA acetyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acetyl-CoA acetyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_329931 Label: C3 glomerulonephritis - 'C3 glomerulonephritis' SubClassOf 'histopathological subtype' - 'C3 glomerulonephritis' SubClassOf 'part_of' some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'C3 glomerulonephritis' SubClassOf 'histopathological subtype' + 'C3 glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_261304 Label: Paternal 20q13.2q13.3 microdeletion syndrome - 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 20' - 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 20' + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98798 Label: Isochromosomy Yq - 'Isochromosomy Yq' SubClassOf 'part_of' some 'Isochromosome Y' - 'Isochromosomy Yq' SubClassOf 'malformation syndrome' + 'Isochromosomy Yq' SubClassOf 'malformation syndrome' + 'Isochromosomy Yq' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isochromosome Y' Class: http://www.orpha.net/ORDO/Orphanet_98797 Label: Isochromosomy Yp - 'Isochromosomy Yp' SubClassOf 'malformation syndrome' - 'Isochromosomy Yp' SubClassOf 'part_of' some 'Isochromosome Y' + 'Isochromosomy Yp' SubClassOf 'malformation syndrome' + 'Isochromosomy Yp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isochromosome Y' Class: http://www.orpha.net/ORDO/Orphanet_98794 Label: Angelman syndrome due to maternal 15q11q13 deletion - 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'etiological subtype' - 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'part_of' some 'Angelman syndrome' - 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'etiological subtype' + 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98795 Label: Angelman syndrome due to paternal uniparental disomy of chromosome 15 - 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'part_of' some 'Angelman syndrome' - 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'part_of' some 'Uniparental disomy of paternal origin' - 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'etiological subtype' + 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of paternal origin' + 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Angelman syndrome' + 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98793 Label: Prader-Willi syndrome due to paternal 15q11q13 deletion - 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' - 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'etiological subtype' - 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_292437 Label: solute carrier organic anion transporter family, member 1B3 - 'solute carrier organic anion transporter family, member 1B3' SubClassOf 'gene' - 'solute carrier organic anion transporter family, member 1B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' + 'solute carrier organic anion transporter family, member 1B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' + 'solute carrier organic anion transporter family, member 1B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier organic anion transporter family, member 1B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98791 Label: Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'part_of' some 'Alpha-thalassemia-related diseases' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'disease' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_inheritance' some 'sporadic' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'disease' + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia-related diseases' + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_117709 Label: acyl-CoA dehydrogenase, short/branched chain - 'acyl-CoA dehydrogenase, short/branched chain' SubClassOf 'Disease-causing germline mutation(s) in' some '2-methylbutyryl-CoA dehydrogenase deficiency' - 'acyl-CoA dehydrogenase, short/branched chain' SubClassOf 'gene' + 'acyl-CoA dehydrogenase, short/branched chain' SubClassOf 'Disease-causing germline mutation(s) in' some '2-methylbutyryl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase, short/branched chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA dehydrogenase, short/branched chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25-q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117718 Label: aggrecan - 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia, Kimberley type' - 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial osteochondritis dissecans' - 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, aggrecan type' - 'aggrecan' SubClassOf 'gene' + 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia, Kimberley type' + 'aggrecan' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial osteochondritis dissecans' + 'aggrecan' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aggrecan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, aggrecan type' Class: http://www.orpha.net/ORDO/Orphanet_248305 Label: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency - 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314769 Label: Somatomammotropinoma - 'Somatomammotropinoma' SubClassOf 'disease' - 'Somatomammotropinoma' SubClassOf 'part_of' some 'Mixed functioning pituitary adenoma' + 'Somatomammotropinoma' SubClassOf 'disease' + 'Somatomammotropinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_117713 Label: acyl-CoA dehydrogenase, very long chain - 'acyl-CoA dehydrogenase, very long chain' SubClassOf 'gene' - 'acyl-CoA dehydrogenase, very long chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Very long chain acyl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase, very long chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase, very long chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA dehydrogenase, very long chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Very long chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_248308 Label: Rare hemorrhagic disorder - 'Rare hemorrhagic disorder' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_248302 Label: Rare acquired deficiency anemia - 'Rare acquired deficiency anemia' SubClassOf 'group of disorders' + 'Rare acquired deficiency anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329942 Label: Transient neonatal multiple acyl-CoA dehydrogenase deficiency - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_240112 Label: Progressive supranuclear palsy - progressive non fluent aphasia - 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'clinical subtype' - 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'clinical subtype' + 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_314709 Label: Primary localized amyloidosis - 'Primary localized amyloidosis' SubClassOf 'part_of' some 'AL amyloidosis' - 'Primary localized amyloidosis' SubClassOf 'clinical subtype' + 'Primary localized amyloidosis' SubClassOf 'clinical subtype' + 'Primary localized amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'AL amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_266117 Label: interleukin 17F - 'interleukin 17F' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'interleukin 17F' SubClassOf 'gene' + 'interleukin 17F' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'interleukin 17F' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 17F' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117780 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 2 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 2' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, dermatosparaxis type' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase with thrombospondin type 1 motif, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase with thrombospondin type 1 motif, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, dermatosparaxis type' Class: http://www.orpha.net/ORDO/Orphanet_221166 Label: complement component 1, q subcomponent, B chain - 'complement component 1, q subcomponent, B chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 1, q subcomponent, B chain' SubClassOf 'gene' + 'complement component 1, q subcomponent, B chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 1, q subcomponent, B chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3-p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 1, q subcomponent, B chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_318745 Label: IKAROS family zinc finger 1 (Ikaros) - 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancytopenia due to IKZF1 mutations' - 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf 'gene' - 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf 'Modifying somatic mutation in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancytopenia due to IKZF1 mutations' + 'IKAROS family zinc finger 1 (Ikaros)' SubClassOf 'Modifying somatic mutation in' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_117785 Label: phosphoglycerate dehydrogenase - 'phosphoglycerate dehydrogenase' SubClassOf 'gene' - 'phosphoglycerate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoglycerate dehydrogenase deficiency' - 'phosphoglycerate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neu-Laxova syndrome' + 'phosphoglycerate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglycerate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoglycerate dehydrogenase deficiency' + 'phosphoglycerate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglycerate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neu-Laxova syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221162 Label: complement component 1, q subcomponent, A chain - 'complement component 1, q subcomponent, A chain' SubClassOf 'gene' - 'complement component 1, q subcomponent, A chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 1, q subcomponent, A chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3-p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 1, q subcomponent, A chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 1, q subcomponent, A chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' Class: http://www.orpha.net/ORDO/Orphanet_247262 Label: Hyperphosphatasia-intellectual disability syndrome - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'disease' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314718 Label: Lethal arteriopathy syndrome due to fibulin-4 deficiency - 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'disease' - 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'disease' + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_248315 Label: Rare hemorrhagic disorder due to a coagulation factors defect - 'Rare hemorrhagic disorder due to a coagulation factors defect' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a coagulation factors defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221168 Label: complement component 1, q subcomponent, C chain - 'complement component 1, q subcomponent, C chain' SubClassOf 'gene' - 'complement component 1, q subcomponent, C chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 1, q subcomponent, C chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 1, q subcomponent, C chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 1, q subcomponent, C chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121402 Label: aprataxin - 'aprataxin' SubClassOf 'gene' - 'aprataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia - oculomotor apraxia type 1' + 'aprataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'aprataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aprataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia - oculomotor apraxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_121400 Label: adenine phosphoribosyltransferase - 'adenine phosphoribosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenine phosphoribosyltransferase deficiency' - 'adenine phosphoribosyltransferase' SubClassOf 'gene' + 'adenine phosphoribosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Adenine phosphoribosyltransferase deficiency' + 'adenine phosphoribosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'adenine phosphoribosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_266126 Label: glutamate receptor, ionotropic, N-methyl D-aspartate 2B - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf 'gene' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'West syndrome' + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_329967 Label: Intermittent hydrarthrosis - 'Intermittent hydrarthrosis' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Intermittent hydrarthrosis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Intermittent hydrarthrosis' SubClassOf 'disease' + 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Intermittent hydrarthrosis' SubClassOf 'disease' + 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_318754 Label: protein kinase, DNA-activated, catalytic polypeptide - 'protein kinase, DNA-activated, catalytic polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DNA-PKcs deficiency' - 'protein kinase, DNA-activated, catalytic polypeptide' SubClassOf 'gene' + 'protein kinase, DNA-activated, catalytic polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DNA-PKcs deficiency' + 'protein kinase, DNA-activated, catalytic polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase, DNA-activated, catalytic polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117773 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 10 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 10' SubClassOf 'gene' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase with thrombospondin type 1 motif, 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117771 Label: adenosine deaminase - 'adenosine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to adenosine deaminase deficiency' - 'adenosine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'adenosine deaminase' SubClassOf 'gene' + 'adenosine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to adenosine deaminase deficiency' + 'adenosine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'adenosine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_58017 Label: Hairy cell leukemia - 'Hairy cell leukemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hairy cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hairy cell leukemia' SubClassOf 'disease' - 'Hairy cell leukemia' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "3.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410090) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Hairy cell leukemia' SubClassOf 'disease' + 'Hairy cell leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_117776 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 13 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 13' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase with thrombospondin type 1 motif, 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221171 Label: complement component 1, s subcomponent - 'complement component 1, s subcomponent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 1, s subcomponent' SubClassOf 'gene' + 'complement component 1, s subcomponent' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 1, s subcomponent' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 1, s subcomponent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' Class: http://www.orpha.net/ORDO/Orphanet_221173 Label: CD59 molecule, complement regulatory protein - 'CD59 molecule, complement regulatory protein' SubClassOf 'gene' - 'CD59 molecule, complement regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary CD59 deficiency' + 'CD59 molecule, complement regulatory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary CD59 deficiency' + 'CD59 molecule, complement regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'CD59 molecule, complement regulatory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_314701 Label: Primary systemic amyloidosis - 'Primary systemic amyloidosis' SubClassOf 'part_of' some 'AL amyloidosis' - 'Primary systemic amyloidosis' SubClassOf 'clinical subtype' + 'Primary systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'AL amyloidosis' + 'Primary systemic amyloidosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_248326 Label: Rare hemorrhagic disorder due to a platelet anomaly - 'Rare hemorrhagic disorder due to a platelet anomaly' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to a platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_204415 Label: neutrophil cytosolic factor 4, 40kDa - 'neutrophil cytosolic factor 4, 40kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' - 'neutrophil cytosolic factor 4, 40kDa' SubClassOf 'gene' + 'neutrophil cytosolic factor 4, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neutrophil cytosolic factor 4, 40kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'neutrophil cytosolic factor 4, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_204411 Label: ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) - 'ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neutrophil immunodeficiency syndrome' - 'ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)' SubClassOf 'gene' + 'ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neutrophil immunodeficiency syndrome' + 'ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221180 Label: CD79a molecule, immunoglobulin-associated alpha - 'CD79a molecule, immunoglobulin-associated alpha' SubClassOf 'gene' - 'CD79a molecule, immunoglobulin-associated alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'CD79a molecule, immunoglobulin-associated alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'CD79a molecule, immunoglobulin-associated alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'CD79a molecule, immunoglobulin-associated alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221184 Label: CD8a molecule - 'CD8a molecule' SubClassOf 'gene' - 'CD8a molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' + 'CD8a molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string + 'CD8a molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD8a molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' Class: http://www.orpha.net/ORDO/Orphanet_329971 Label: Generalized juvenile polyposis/juvenile polyposis coli - 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'clinical subtype' - 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'part_of' some 'Juvenile polyposis syndrome' - 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile polyposis syndrome' + 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'clinical subtype' + 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_117764 Label: activin A receptor type II-like 1 - 'activin A receptor type II-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' - 'activin A receptor type II-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' - 'activin A receptor type II-like 1' SubClassOf 'gene' + 'activin A receptor type II-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'activin A receptor type II-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'activin A receptor type II-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hemorrhagic telangiectasia' + 'activin A receptor type II-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_118896 Label: ATR serine/threonine kinase - 'ATR serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' - 'ATR serine/threonine kinase' SubClassOf 'gene' - 'ATR serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' + 'ATR serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'ATR serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATR serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23"^^http://www.w3.org/2001/XMLSchema#string + 'ATR serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314731 Label: matrix metallopeptidase 14 (membrane-inserted) - 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodulosis-arthropathy-osteolysis syndrome' - 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf 'gene' - 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Torg-Winchester syndrome' + 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodulosis-arthropathy-osteolysis syndrome' + 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 14 (membrane-inserted)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Torg-Winchester syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221187 Label: complement factor D (adipsin) - 'complement factor D (adipsin)' SubClassOf 'gene' - 'complement factor D (adipsin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent Neisseria infections due to factor D deficiency' + 'complement factor D (adipsin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent Neisseria infections due to factor D deficiency' + 'complement factor D (adipsin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor D (adipsin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_329977 Label: Classic endocrine tumor of the appendix - 'Classic endocrine tumor of the appendix' SubClassOf 'clinical subtype' - 'Classic endocrine tumor of the appendix' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Classic endocrine tumor of the appendix' SubClassOf 'part_of' some 'Endocrine tumor of the appendix' - 'Classic endocrine tumor of the appendix' SubClassOf 'has_prevalence' some 'Unknown' - 'Classic endocrine tumor of the appendix' SubClassOf 'has_inheritance' some 'sporadic' + 'Classic endocrine tumor of the appendix' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic endocrine tumor of the appendix' SubClassOf 'clinical subtype' + 'Classic endocrine tumor of the appendix' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Classic endocrine tumor of the appendix' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Classic endocrine tumor of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor of the appendix' Class: http://www.orpha.net/ORDO/Orphanet_118892 Label: ATP synthase mitochondrial F1 complex assembly factor 2 - 'ATP synthase mitochondrial F1 complex assembly factor 2' SubClassOf 'gene' - 'ATP synthase mitochondrial F1 complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase mitochondrial F1 complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP synthase mitochondrial F1 complex assembly factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ATP synthase mitochondrial F1 complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_52183 Label: Premature chromosome condensation with microcephaly and intellectual disability - 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'malformation syndrome' - 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_266109 Label: interleukin 17 receptor A - 'interleukin 17 receptor A' SubClassOf 'gene' - 'interleukin 17 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'interleukin 17 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.1"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 17 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'interleukin 17 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_329984 Label: Goblet cell carcinoma - 'Goblet cell carcinoma' SubClassOf 'clinical subtype' - 'Goblet cell carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Goblet cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Goblet cell carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Goblet cell carcinoma' SubClassOf 'part_of' some 'Endocrine tumor of the appendix' + 'Goblet cell carcinoma' SubClassOf 'clinical subtype' + 'Goblet cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.025"^^http://www.w3.org/2001/XMLSchema#string) + 'Goblet cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Goblet cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor of the appendix' + 'Goblet cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_118885 Label: ATPase, aminophospholipid transporter, class I, type 8B, member 1 - 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign recurrent intrahepatic cholestasis type 1' - 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 1' - 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' - 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'gene' + 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign recurrent intrahepatic cholestasis type 1' + 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 1' + 'ATPase, aminophospholipid transporter, class I, type 8B, member 1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' Class: http://www.orpha.net/ORDO/Orphanet_221192 Label: immunoglobulin heavy constant gamma 2 (G2m marker) - 'immunoglobulin heavy constant gamma 2 (G2m marker)' SubClassOf 'gene' - 'immunoglobulin heavy constant gamma 2 (G2m marker)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' + 'immunoglobulin heavy constant gamma 2 (G2m marker)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy constant gamma 2 (G2m marker)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' + 'immunoglobulin heavy constant gamma 2 (G2m marker)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_248340 Label: Isolated delta-storage pool disease - 'Isolated delta-storage pool disease' SubClassOf 'disease' - 'Isolated delta-storage pool disease' SubClassOf 'part_of' some 'Dense granule disease' + 'Isolated delta-storage pool disease' SubClassOf 'disease' + 'Isolated delta-storage pool disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dense granule disease' Class: http://www.orpha.net/ORDO/Orphanet_117753 Label: actin, alpha, cardiac muscle 1 - 'actin, alpha, cardiac muscle 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'actin, alpha, cardiac muscle 1' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'actin, alpha, cardiac muscle 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'actin, alpha, cardiac muscle 1' SubClassOf 'gene' + 'actin, alpha, cardiac muscle 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'actin, alpha, cardiac muscle 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'actin, alpha, cardiac muscle 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, alpha, cardiac muscle 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'actin, alpha, cardiac muscle 1' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_117750 Label: actin, alpha 1, skeletal muscle - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy with excess of thin filaments' - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' - 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'actin, alpha 1, skeletal muscle' SubClassOf 'gene' + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical nemaline myopathy' + 'actin, alpha 1, skeletal muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.13"^^http://www.w3.org/2001/XMLSchema#string + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate nemaline myopathy' + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital myopathy with excess of thin filaments' + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe congenital nemaline myopathy' + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset nemaline myopathy' + 'actin, alpha 1, skeletal muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'actin, alpha 1, skeletal muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118882 Label: ATPase, Cu++ transporting, beta polypeptide - 'ATPase, Cu++ transporting, beta polypeptide' SubClassOf 'gene' - 'ATPase, Cu++ transporting, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wilson disease' + 'ATPase, Cu++ transporting, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Cu++ transporting, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Cu++ transporting, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Wilson disease' Class: http://www.orpha.net/ORDO/Orphanet_248347 Label: Rare hemorrhagic disorder due to an acquired platelet anomaly - 'Rare hemorrhagic disorder due to an acquired platelet anomaly' SubClassOf 'group of disorders' + 'Rare hemorrhagic disorder due to an acquired platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314721 Label: Atypical dentin dysplasia due to SMOC2 deficiency - 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'disease' - 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'part_of' some 'Dentin dysplasia' - 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'disease' + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentin dysplasia' + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_117759 Label: activin A receptor, type I - 'activin A receptor, type I' SubClassOf 'gene' - 'activin A receptor, type I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrodysplasia ossificans progressiva' + 'activin A receptor, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'activin A receptor, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'activin A receptor, type I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Fibrodysplasia ossificans progressiva' Class: http://www.orpha.net/ORDO/Orphanet_117757 Label: actinin, alpha 4 - 'actinin, alpha 4' SubClassOf 'gene' - 'actinin, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'actinin, alpha 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'actinin, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actinin, alpha 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118879 Label: ATPase, Cu++ transporting, alpha polypeptide - 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'gene' - 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital horn syndrome' - 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Menkes disease' - 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked distal spinal muscular atrophy' + 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Menkes disease' + 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occipital horn syndrome' + 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked distal spinal muscular atrophy' + 'ATPase, Cu++ transporting, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_364568 Label: Dysostosis with limb anomaly as a major feature - 'Dysostosis with limb anomaly as a major feature' SubClassOf 'group of disorders' + 'Dysostosis with limb anomaly as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280563 Label: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 - 'DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Warsaw breakage syndrome' - 'DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11' SubClassOf 'gene' + 'DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Warsaw breakage syndrome' Class: http://www.orpha.net/ORDO/Orphanet_58040 Label: Osteoblastoma - 'Osteoblastoma' SubClassOf 'disease' - 'Osteoblastoma' SubClassOf 'part_of' some 'Rare bone tumor' + 'Osteoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Osteoblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_248358 Label: Rare thrombotic disorder due to a coagulation factors defect - 'Rare thrombotic disorder due to a coagulation factors defect' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to a coagulation factors defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75249 Label: Familial isolated restrictive cardiomyopathy - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'disease' - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial isolated restrictive cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial isolated restrictive cardiomyopathy' SubClassOf 'disease' + 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated restrictive cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Familial isolated restrictive cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_364789 Label: FBJ murine osteosarcoma viral oncogene homolog - 'FBJ murine osteosarcoma viral oncogene homolog' SubClassOf 'gene' - 'FBJ murine osteosarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'FBJ murine osteosarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'FBJ murine osteosarcoma viral oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FBJ murine osteosarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_118872 Label: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 - 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf 'gene' - 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_364562 Label: SET binding factor 1 - 'SET binding factor 1' SubClassOf 'gene' - 'SET binding factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B3' + 'SET binding factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'SET binding factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SET binding factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B3' Class: http://www.orpha.net/ORDO/Orphanet_280558 Label: Warsaw breakage syndrome - 'Warsaw breakage syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Warsaw breakage syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Warsaw breakage syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Warsaw breakage syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Warsaw breakage syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Warsaw breakage syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Warsaw breakage syndrome' SubClassOf 'malformation syndrome' + 'Warsaw breakage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Warsaw breakage syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Warsaw breakage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Warsaw breakage syndrome' SubClassOf 'malformation syndrome' + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Warsaw breakage syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280553 Label: Fatal infantile hypertonic myofibrillar myopathy - 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'disease' - 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'disease' + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_247239 Label: Non-hereditary degenerative ataxia - 'Non-hereditary degenerative ataxia' SubClassOf 'group of disorders' + 'Non-hereditary degenerative ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Non-hereditary degenerative ataxia' SubClassOf 'group of disorders' + 'Non-hereditary degenerative ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_364577 Label: Intellectual disability-brachydactyly-Pierre Robin syndrome - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_364574 Label: Acrofacial dysostosis - 'Acrofacial dysostosis' SubClassOf 'group of disorders' + 'Acrofacial dysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118861 Label: ATPase, H+ transporting, lysosomal V0 subunit a4 - 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'gene' - 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_364799 Label: fibroblast growth factor 16 - 'fibroblast growth factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 8' - 'fibroblast growth factor 16' SubClassOf 'gene' + 'fibroblast growth factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 8' + 'fibroblast growth factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_364571 Label: Dysostosis with limb and face anomalies as a major feature - 'Dysostosis with limb and face anomalies as a major feature' SubClassOf 'group of disorders' + 'Dysostosis with limb and face anomalies as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_247234 Label: Sporadic adult-onset ataxia of unknown etiology - 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'disease' - 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'part_of' some 'Non-hereditary degenerative ataxia' - 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-hereditary degenerative ataxia' + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'disease' + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_248368 Label: Rare thrombotic disorder due to a platelet anomaly - 'Rare thrombotic disorder due to a platelet anomaly' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to a platelet anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_248365 Label: Rare thrombotic disorder due to an acquired coagulation factors defect - 'Rare thrombotic disorder due to an acquired coagulation factors defect' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to an acquired coagulation factors defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_248361 Label: Rare thrombotic disorder due to a constitutional coagulation factors defect - 'Rare thrombotic disorder due to a constitutional coagulation factors defect' SubClassOf 'group of disorders' + 'Rare thrombotic disorder due to a constitutional coagulation factors defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371077 Label: phosphatidylinositol binding clathrin assembly protein - 'phosphatidylinositol binding clathrin assembly protein' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'phosphatidylinositol binding clathrin assembly protein' SubClassOf 'gene' + 'phosphatidylinositol binding clathrin assembly protein' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'phosphatidylinositol binding clathrin assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol binding clathrin assembly protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_371071 Label: Congenital disorder of glycosylation with epilepsy as a major feature - 'Congenital disorder of glycosylation with epilepsy as a major feature' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with epilepsy as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289103 Label: Hypocalcemic rickets - 'Hypocalcemic rickets' SubClassOf 'group of disorders' + 'Hypocalcemic rickets' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364541 Label: Frontootopalatodigital syndrome - 'Frontootopalatodigital syndrome' SubClassOf 'group of disorders' + 'Frontootopalatodigital syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_303726 Label: coiled-coil domain containing 103 - 'coiled-coil domain containing 103' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'coiled-coil domain containing 103' SubClassOf 'gene' + 'coiled-coil domain containing 103' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 103' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 103' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_79399 Label: Generalized epidermolysis bullosa simplex, non-Dowling-Meara type - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'disease' - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_inheritance' some 'sporadic' + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'disease' + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280581 Label: barrier to autointegration factor 1 - 'barrier to autointegration factor 1' SubClassOf 'gene' - 'barrier to autointegration factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nestor-Guillermo progeria syndrome' + 'barrier to autointegration factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'barrier to autointegration factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nestor-Guillermo progeria syndrome' + 'barrier to autointegration factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_53271 Label: Muenke syndrome - 'Muenke syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Muenke syndrome' SubClassOf 'malformation syndrome' - 'Muenke syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Muenke syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Muenke syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Muenke syndrome' SubClassOf 'malformation syndrome' + 'Muenke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Muenke syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Muenke syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muenke syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Muenke syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79394 Label: Congenital non-bullous ichthyosiform erythroderma - 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'disease' + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'disease' + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_247242 Label: Acquired ataxia - 'Acquired ataxia' SubClassOf 'group of disorders' + 'Acquired ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79391 Label: Immune deficiency with skin involvement - 'Immune deficiency with skin involvement' SubClassOf 'group of disorders' + 'Immune deficiency with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_353524 Label: KIAA1549 - 'KIAA1549' SubClassOf 'gene' - 'KIAA1549' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'KIAA1549' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA1549' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'KIAA1549' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118855 Label: ATPase, H+ transporting, lysosomal accessory protein 2 - 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Hedera type' - 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf 'gene' - 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked parkinsonism-spasticity syndrome' + 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Hedera type' + 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked parkinsonism-spasticity syndrome' + 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, H+ transporting, lysosomal accessory protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79397 Label: Epidermolysis bullosa simplex with mottled pigmentation - 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'disease' + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_247245 Label: Superficial siderosis - 'Superficial siderosis' SubClassOf 'disease' - 'Superficial siderosis' SubClassOf 'part_of' some 'Acquired ataxia' - 'Superficial siderosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Superficial siderosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Superficial siderosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Superficial siderosis' SubClassOf 'disease' + 'Superficial siderosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Superficial siderosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired ataxia' + 'Superficial siderosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_79396 Label: Epidermolysis bullosa simplex, Dowling-Meara type - 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'disease' + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'disease' + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79395 Label: Keratoderma hereditarium mutilans with ichthyosis - 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' - 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'disease' - 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'part_of' some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'disease' + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_204452 Label: beta-carotene oxygenase 1 - 'beta-carotene oxygenase 1' SubClassOf 'gene' - 'beta-carotene oxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypercarotenemia and vitamin A deficiency' + 'beta-carotene oxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'beta-carotene oxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beta-carotene oxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypercarotenemia and vitamin A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_75234 Label: Cholesteryl ester storage disease - 'Cholesteryl ester storage disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cholesteryl ester storage disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholesteryl ester storage disease' SubClassOf 'clinical subtype' - 'Cholesteryl ester storage disease' SubClassOf 'part_of' some 'Lysosomal acid lipase deficiency' - 'Cholesteryl ester storage disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cholesteryl ester storage disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholesteryl ester storage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal acid lipase deficiency' + 'Cholesteryl ester storage disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Cholesteryl ester storage disease' SubClassOf 'clinical subtype' + 'Cholesteryl ester storage disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cholesteryl ester storage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_75233 Label: Wolman disease - 'Wolman disease' SubClassOf 'part_of' some 'Lysosomal acid lipase deficiency' - 'Wolman disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wolman disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wolman disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Wolman disease' SubClassOf 'clinical subtype' + 'Wolman disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wolman disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolman disease' SubClassOf 'clinical subtype' + 'Wolman disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolman disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wolman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal acid lipase deficiency' + 'Wolman disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Wolman disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79390 Label: Rare photodermatosis - 'Rare photodermatosis' SubClassOf 'group of disorders' + 'Rare photodermatosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_353516 Label: topoisomerase (DNA) II alpha 170kDa - 'topoisomerase (DNA) II alpha 170kDa' SubClassOf 'gene' - 'topoisomerase (DNA) II alpha 170kDa' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' + 'topoisomerase (DNA) II alpha 170kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'topoisomerase (DNA) II alpha 170kDa' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' + 'topoisomerase (DNA) II alpha 170kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280576 Label: Nestor-Guillermo progeria syndrome - 'Nestor-Guillermo progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'malformation syndrome' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'part_of' some 'Primary osteolysis' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nestor-Guillermo progeria syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' + 'Nestor-Guillermo progeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Nestor-Guillermo progeria syndrome' SubClassOf 'malformation syndrome' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Nestor-Guillermo progeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Nestor-Guillermo progeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_303717 Label: RAB40A, member RAS oncogene family-like - 'RAB40A, member RAS oncogene family-like' SubClassOf 'gene' - 'RAB40A, member RAS oncogene family-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness - intellectual disability, Martin-Probst type' Class: http://www.orpha.net/ORDO/Orphanet_118849 Label: ATPase, Ca++ transporting, type 2C, member 1 - 'ATPase, Ca++ transporting, type 2C, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial benign chronic pemphigus' - 'ATPase, Ca++ transporting, type 2C, member 1' SubClassOf 'gene' + 'ATPase, Ca++ transporting, type 2C, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial benign chronic pemphigus' + 'ATPase, Ca++ transporting, type 2C, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Ca++ transporting, type 2C, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303711 Label: leucine zipper transcription factor-like 1 - 'leucine zipper transcription factor-like 1' SubClassOf 'gene' - 'leucine zipper transcription factor-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'leucine zipper transcription factor-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'leucine zipper transcription factor-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine zipper transcription factor-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364559 Label: Dysostosis - 'Dysostosis' SubClassOf 'group of disorders' + 'Dysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117797 Label: phosphorylase kinase, beta - 'phosphorylase kinase, beta' SubClassOf 'gene' - 'phosphorylase kinase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' + 'phosphorylase kinase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase kinase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' + 'phosphorylase kinase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118844 Label: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 - 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrokeratosis verruciformis of Hopf' - 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Darier disease' - 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf 'gene' + 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrokeratosis verruciformis of Hopf' + 'ATPase, Ca++ transporting, cardiac muscle, slow twitch 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Darier disease' Class: http://www.orpha.net/ORDO/Orphanet_117799 Label: paired-like homeobox 2a - 'paired-like homeobox 2a' SubClassOf 'gene' - 'paired-like homeobox 2a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' + 'paired-like homeobox 2a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeobox 2a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeobox 2a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' Class: http://www.orpha.net/ORDO/Orphanet_117793 Label: phosphorylase kinase, alpha 2 (liver) - 'phosphorylase kinase, alpha 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver phosphorylase kinase deficiency' - 'phosphorylase kinase, alpha 2 (liver)' SubClassOf 'gene' + 'phosphorylase kinase, alpha 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver phosphorylase kinase deficiency' + 'phosphorylase kinase, alpha 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase kinase, alpha 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_247257 Label: Inhalational anthrax - 'Inhalational anthrax' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Inhalational anthrax' SubClassOf 'has_inheritance' some 'sporadic' - 'Inhalational anthrax' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Inhalational anthrax' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Inhalational anthrax' SubClassOf 'disease' + 'Inhalational anthrax' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Inhalational anthrax' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Inhalational anthrax' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Inhalational anthrax' SubClassOf 'disease' + 'Inhalational anthrax' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_118840 Label: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 - 'ATPase, Ca++ transporting, cardiac muscle, fast twitch 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brody myopathy' - 'ATPase, Ca++ transporting, cardiac muscle, fast twitch 1' SubClassOf 'gene' + 'ATPase, Ca++ transporting, cardiac muscle, fast twitch 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Ca++ transporting, cardiac muscle, fast twitch 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brody myopathy' + 'ATPase, Ca++ transporting, cardiac muscle, fast twitch 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117790 Label: phosphorylase kinase, alpha 1 (muscle) - 'phosphorylase kinase, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' - 'phosphorylase kinase, alpha 1 (muscle)' SubClassOf 'gene' + 'phosphorylase kinase, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase kinase, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase kinase, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_280569 Label: Rapidly progressive glomerulonephritis - 'Rapidly progressive glomerulonephritis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Rapidly progressive glomerulonephritis' SubClassOf 'has_prevalence' some 'Unknown' - 'Rapidly progressive glomerulonephritis' SubClassOf 'disease' - 'Rapidly progressive glomerulonephritis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Rapidly progressive glomerulonephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rapidly progressive glomerulonephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rapidly progressive glomerulonephritis' SubClassOf 'disease' + 'Rapidly progressive glomerulonephritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Rapidly progressive glomerulonephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Rapidly progressive glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_79375 Label: Hyperpigmentation of the skin - 'Hyperpigmentation of the skin' SubClassOf 'group of disorders' + 'Hyperpigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99889 Label: Cushing syndrome due to ectopic ACTH secretion - 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'part_of' some 'ACTH-dependent Cushing syndrome' - 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'has_prevalence' some 'Unknown' - 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'disease' + 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH-dependent Cushing syndrome' + 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314795 Label: SHOX-related short stature - 'SHOX-related short stature' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'SHOX-related short stature' SubClassOf 'disease' - 'SHOX-related short stature' SubClassOf 'has_prevalence' some 'Unknown' - 'SHOX-related short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'SHOX-related short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SHOX-related short stature' SubClassOf 'disease' + 'SHOX-related short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'SHOX-related short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79376 Label: Hypopigmentation of the skin - 'Hypopigmentation of the skin' SubClassOf 'group of disorders' + 'Hypopigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79373 Label: Ectodermal dysplasia syndrome - 'Ectodermal dysplasia syndrome' SubClassOf 'group of disorders' + 'Ectodermal dysplasia syndrome' SubClassOf 'group of disorders' + 'Ectodermal dysplasia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) + 'Ectodermal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ectodermal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_79374 Label: Pigmentation anomaly of the skin - 'Pigmentation anomaly of the skin' SubClassOf 'group of disorders' + 'Pigmentation anomaly of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118831 Label: solute carrier family 34 (type II sodium/phosphate contransporter), member 2 - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary alveolar microlithiasis' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 2' SubClassOf 'gene' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary alveolar microlithiasis' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79372 Label: Sebaceous gland anomaly - 'Sebaceous gland anomaly' SubClassOf 'group of disorders' + 'Sebaceous gland anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79370 Label: Syndromic nail anomaly - 'Syndromic nail anomaly' SubClassOf 'group of disorders' + 'Syndromic nail anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_53296 Label: Familial cutaneous collagenoma - 'Familial cutaneous collagenoma' SubClassOf 'disease' - 'Familial cutaneous collagenoma' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' + 'Familial cutaneous collagenoma' SubClassOf 'disease' + 'Familial cutaneous collagenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_363071 Label: aquaporin 5 - 'aquaporin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-epidermolytic palmoplantar keratoderma' - 'aquaporin 5' SubClassOf 'gene' + 'aquaporin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aquaporin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'aquaporin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Non-epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_303747 Label: exosome component 3 - 'exosome component 3' SubClassOf 'gene' - 'exosome component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'exosome component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p11"^^http://www.w3.org/2001/XMLSchema#string + 'exosome component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'exosome component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_1717 Label: Distal trisomy 19q - 'Distal trisomy 19q' SubClassOf 'malformation syndrome' - 'Distal trisomy 19q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 19' + 'Distal trisomy 19q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 19' + 'Distal trisomy 19q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118834 Label: solute carrier family 34 (type II sodium/phosphate contransporter), member 3 - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypophosphatemic rickets with hypercalciuria' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 3' SubClassOf 'gene' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hypophosphatemic rickets with hypercalciuria' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1716 Label: Distal trisomy 18q - 'Distal trisomy 18q' SubClassOf 'malformation syndrome' - 'Distal trisomy 18q' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 18' + 'Distal trisomy 18q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 18' + 'Distal trisomy 18q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1715 Label: Trisomy 18p - 'Trisomy 18p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' - 'Trisomy 18p' SubClassOf 'malformation syndrome' + 'Trisomy 18p' SubClassOf 'malformation syndrome' + 'Trisomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' Class: http://www.orpha.net/ORDO/Orphanet_364526 Label: Primary bone dysplasia - 'Primary bone dysplasia' SubClassOf 'group of disorders' + 'Primary bone dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79379 Label: Skin vascular disease - 'Skin vascular disease' SubClassOf 'group of disorders' + 'Skin vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118838 Label: solute carrier family 35 (GDP-fucose transporter), member C1 - 'solute carrier family 35 (GDP-fucose transporter), member C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukocyte adhesion deficiency type II' - 'solute carrier family 35 (GDP-fucose transporter), member C1' SubClassOf 'gene' + 'solute carrier family 35 (GDP-fucose transporter), member C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (GDP-fucose transporter), member C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (GDP-fucose transporter), member C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukocyte adhesion deficiency type II' Class: http://www.orpha.net/ORDO/Orphanet_79377 Label: Dermis disorder - 'Dermis disorder' SubClassOf 'group of disorders' + 'Dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79378 Label: Dermis elastic tissue disorder - 'Dermis elastic tissue disorder' SubClassOf 'group of disorders' + 'Dermis elastic tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_371040 Label: Primary qualitative or quantitative defects of alpha-dystroglycan - 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'group of disorders' + 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1723 Label: Mosaic trisomy 2 - 'Mosaic trisomy 2' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 2' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 2' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_1724 Label: Mosaic trisomy 20 - 'Mosaic trisomy 20' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 20' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 20' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99892 Label: ACTH-dependent Cushing syndrome - 'ACTH-dependent Cushing syndrome' SubClassOf 'group of disorders' + 'ACTH-dependent Cushing syndrome' SubClassOf 'group of disorders' + 'ACTH-dependent Cushing syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168172 Label: adenylate cyclase 10 (soluble) - 'adenylate cyclase 10 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic hypercalciuria' - 'adenylate cyclase 10 (soluble)' SubClassOf 'gene' + 'adenylate cyclase 10 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24"^^http://www.w3.org/2001/XMLSchema#string + 'adenylate cyclase 10 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate cyclase 10 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic hypercalciuria' Class: http://www.orpha.net/ORDO/Orphanet_371047 Label: Congenital disorder of glycosylation with neurological involvement - 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'group of disorders' + 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99893 Label: ACTH-independent Cushing syndrome - 'ACTH-independent Cushing syndrome' SubClassOf 'group of disorders' + 'ACTH-independent Cushing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261330 Label: Distal 22q11.2 microdeletion syndrome - 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 22' - 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 22q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 22' + 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314790 Label: Null pituitary adenoma - 'Null pituitary adenoma' SubClassOf 'histopathological subtype' - 'Null pituitary adenoma' SubClassOf 'part_of' some 'Non-functioning pituitary adenoma' + 'Null pituitary adenoma' SubClassOf 'histopathological subtype' + 'Null pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_289157 Label: Hypocalcemic vitamin D-dependent rickets - 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'part_of' some 'Hypocalcemic rickets' - 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'disease' - 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'disease' + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypocalcemic rickets' + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99898 Label: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_168179 Label: dual oxidase maturation factor 2 - 'dual oxidase maturation factor 2' SubClassOf 'gene' - 'dual oxidase maturation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'dual oxidase maturation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thyroid dyshormonogenesis' + 'dual oxidase maturation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'dual oxidase maturation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79384 Label: Rare urticaria - 'Rare urticaria' SubClassOf 'group of disorders' + 'Rare urticaria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79385 Label: Unclassified genetic skin disorder - 'Unclassified genetic skin disorder' SubClassOf 'group of disorders' + 'Unclassified genetic skin disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314786 Label: Silent pituitary adenoma - 'Silent pituitary adenoma' SubClassOf 'histopathological subtype' - 'Silent pituitary adenoma' SubClassOf 'part_of' some 'Non-functioning pituitary adenoma' + 'Silent pituitary adenoma' SubClassOf 'histopathological subtype' + 'Silent pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_79386 Label: Rare skin tumor or hamartoma - 'Rare skin tumor or hamartoma' SubClassOf 'group of disorders' + 'Rare skin tumor or hamartoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79387 Label: Metabolic disease with skin involvement - 'Metabolic disease with skin involvement' SubClassOf 'group of disorders' + 'Metabolic disease with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79380 Label: Mixed dermis disorder - 'Mixed dermis disorder' SubClassOf 'group of disorders' + 'Mixed dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261318 Label: Trisomy 20p - 'Trisomy 20p' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 20p' SubClassOf 'malformation syndrome' - 'Trisomy 20p' SubClassOf 'part_of' some 'Partial trisomy of chromosome 20' - 'Trisomy 20p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 20p' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Trisomy 20p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 20p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trisomy 20p' SubClassOf 'malformation syndrome' + 'Trisomy 20p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trisomy 20p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 20p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 20p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_79381 Label: Unclassified dermis disorder - 'Unclassified dermis disorder' SubClassOf 'group of disorders' + 'Unclassified dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118821 Label: solute carrier family 26 (anion exchanger), member 4 - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'gene' - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thyroid hypoplasia' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Athyreosis' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79382 Label: Subcutaneous tissue disease - 'Subcutaneous tissue disease' SubClassOf 'group of disorders' + 'Subcutaneous tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79383 Label: Lymphedema - 'Lymphedema' SubClassOf 'group of disorders' + 'Lymphedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364536 Label: Primary bone dysplasia with micromelia - 'Primary bone dysplasia with micromelia' SubClassOf 'group of disorders' + 'Primary bone dysplasia with micromelia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118825 Label: solute carrier family 2 (facilitated glucose transporter), member 10 - 'solute carrier family 2 (facilitated glucose transporter), member 10' SubClassOf 'gene' - 'solute carrier family 2 (facilitated glucose transporter), member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arterial tortuosity syndrome' + 'solute carrier family 2 (facilitated glucose transporter), member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 2 (facilitated glucose transporter), member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 2 (facilitated glucose transporter), member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Arterial tortuosity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1727 Label: 22q11.2 microduplication syndrome - '22q11.2 microduplication syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '22q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 22' - '22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '22q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' - '22q11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '22q11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '22q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '22q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_79388 Label: Mucopolysaccharidosis with skin involvement - 'Mucopolysaccharidosis with skin involvement' SubClassOf 'group of disorders' + 'Mucopolysaccharidosis with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79389 Label: Premature aging - 'Premature aging' SubClassOf 'group of disorders' + 'Premature aging' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_364531 Label: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments - 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'group of disorders' + 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118828 Label: solute carrier family 2 (facilitated glucose transporter), member 2 - 'solute carrier family 2 (facilitated glucose transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to GLUT2 deficiency' - 'solute carrier family 2 (facilitated glucose transporter), member 2' SubClassOf 'gene' + 'solute carrier family 2 (facilitated glucose transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to GLUT2 deficiency' + 'solute carrier family 2 (facilitated glucose transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.2-q27"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 2 (facilitated glucose transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303739 Label: KAT8 regulatory NSL complex subunit 1 - 'KAT8 regulatory NSL complex subunit 1' SubClassOf 'Role in the phenotype of' some '17q21.31 microdeletion syndrome' - 'KAT8 regulatory NSL complex subunit 1' SubClassOf 'Role in the phenotype of' some 'Koolen-De Vries syndrome due to a point mutation' - 'KAT8 regulatory NSL complex subunit 1' SubClassOf 'gene' + 'KAT8 regulatory NSL complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Koolen-De Vries syndrome due to a point mutation' + 'KAT8 regulatory NSL complex subunit 1' SubClassOf 'Role in the phenotype of' some '17q21.31 microdeletion syndrome' + 'KAT8 regulatory NSL complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'KAT8 regulatory NSL complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_263310 Label: Thymoma type A - 'Thymoma type A' SubClassOf 'histopathological subtype' - 'Thymoma type A' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymoma type A' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymoma type A' SubClassOf 'part_of' some 'Thymoma' - 'Thymoma type A' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Thymoma type A' SubClassOf 'histopathological subtype' + 'Thymoma type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymoma type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymoma' + 'Thymoma type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Thymoma type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_168165 Label: left-right determination factor 2 - 'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' - 'left-right determination factor 2' SubClassOf 'gene' + 'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus' + 'left-right determination factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'left-right determination factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261323 Label: 21q22.11q22.12 microdeletion syndrome - '21q22.11q22.12 microdeletion syndrome' SubClassOf 'malformation syndrome' - '21q22.11q22.12 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '21q22.11q22.12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 21' + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 21' + '21q22.11q22.12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '21q22.11q22.12 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79350 Label: 3-phosphoserine phosphatase deficiency - '3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Neurometabolic disorder due to serine deficiency' - '3-phosphoserine phosphatase deficiency' SubClassOf 'disease' + '3-phosphoserine phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disorder due to serine deficiency' + '3-phosphoserine phosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_328840 Label: myopalladin - 'myopalladin' SubClassOf 'gene' - 'myopalladin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'myopalladin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'myopalladin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'myopalladin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated restrictive cardiomyopathy' + 'myopalladin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'myopalladin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99868 Label: Thymic carcinoma - 'Thymic carcinoma' SubClassOf 'disease' - 'Thymic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thymic carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymic carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymic carcinoma' SubClassOf 'part_of' some 'Thymic epithelial neoplasm' + 'Thymic carcinoma' SubClassOf 'disease' + 'Thymic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic epithelial neoplasm' + 'Thymic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymic carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_364766 Label: mitochondrially encoded tRNA asparagine - 'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' - 'mitochondrially encoded tRNA asparagine' SubClassOf 'gene' + 'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' + 'mitochondrially encoded tRNA asparagine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA asparagine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_79353 Label: Epidermal disease - 'Epidermal disease' SubClassOf 'group of disorders' + 'Epidermal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261349 Label: 2p15p16.1 microdeletion syndrome - '2p15p16.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2p15p16.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2p15p16.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2p15p16.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 2' + '2p15p16.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 2' + '2p15p16.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2p15p16.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2p15p16.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2p15p16.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_263317 Label: Thymoma type B - 'Thymoma type B' SubClassOf 'histopathological subtype' - 'Thymoma type B' SubClassOf 'part_of' some 'Thymoma' - 'Thymoma type B' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymoma type B' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymoma type B' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Thymoma type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymoma' + 'Thymoma type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymoma type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymoma type B' SubClassOf 'histopathological subtype' + 'Thymoma type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) Class: http://www.orpha.net/ORDO/Orphanet_99867 Label: Thymoma - 'Thymoma' SubClassOf 'part_of' some 'Thymic epithelial neoplasm' - 'Thymoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thymoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymoma' SubClassOf 'disease' - 'Thymoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Thymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymoma' SubClassOf 'disease' + 'Thymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic epithelial neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_79354 Label: Ichthyosis - 'Ichthyosis' SubClassOf 'group of disorders' + 'Ichthyosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79351 Label: 3-phosphoglycerate dehydrogenase deficiency - '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'disease' - '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disorder due to serine deficiency' + '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'disease' + '3-phosphoglycerate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disorder due to serine deficiency' Class: http://www.orpha.net/ORDO/Orphanet_247203 Label: Collecting duct carcinoma - 'Collecting duct carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Collecting duct carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Collecting duct carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Collecting duct carcinoma' SubClassOf 'histopathological subtype' + 'Collecting duct carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Collecting duct carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Collecting duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Collecting duct carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_99869 Label: Thymic neuroendocrine carcinoma - 'Thymic neuroendocrine carcinoma' SubClassOf 'disease' - 'Thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymic neuroendocrine carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Thymic epithelial neoplasm' - 'Thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Thymic neuroendocrine carcinoma' SubClassOf 'disease' + 'Thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic epithelial neoplasm' + 'Thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79357 Label: Hereditary palmoplantar keratoderma - 'Hereditary palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Hereditary palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118817 Label: solute carrier family 26 (anion exchanger), member 3 - 'solute carrier family 26 (anion exchanger), member 3' SubClassOf 'gene' - 'solute carrier family 26 (anion exchanger), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital chloride diarrhea' + 'solute carrier family 26 (anion exchanger), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital chloride diarrhea' + 'solute carrier family 26 (anion exchanger), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_79358 Label: Porokeratosis - 'Porokeratosis' SubClassOf 'group of disorders' + 'Porokeratosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79355 Label: Erythrokeratoderma - 'Erythrokeratoderma' SubClassOf 'group of disorders' + 'Erythrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79356 Label: Acrokeratoderma - 'Acrokeratoderma' SubClassOf 'group of disorders' + 'Acrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118813 Label: solute carrier family 26 (anion exchanger), member 2 - 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'gene' - 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diastrophic dwarfism' - 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 4' - 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1B' - 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atelosteogenesis type II' + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Diastrophic dwarfism' + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 4' + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31-q34"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1B' + 'solute carrier family 26 (anion exchanger), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atelosteogenesis type II' Class: http://www.orpha.net/ORDO/Orphanet_79359 Label: Other epidermal disorder - 'Other epidermal disorder' SubClassOf 'group of disorders' + 'Other epidermal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1702 Label: Non-distal trisomy 13q - 'Non-distal trisomy 13q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 13' - 'Non-distal trisomy 13q' SubClassOf 'malformation syndrome' + 'Non-distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 13' + 'Non-distal trisomy 13q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99874 Label: Adult pulmonary Langerhans cell histiocytosis - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis specific to adulthood' - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'disease' + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis' + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'disease' + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult pulmonary Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis specific to adulthood' Class: http://www.orpha.net/ORDO/Orphanet_371064 Label: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature - 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'group of disorders' + 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99875 Label: Ehlers-Danlos syndrome type 7A - 'Ehlers-Danlos syndrome type 7A' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome, arthrochalasic type' - 'Ehlers-Danlos syndrome type 7A' SubClassOf 'etiological subtype' - 'Ehlers-Danlos syndrome type 7A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome type 7A' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ehlers-Danlos syndrome type 7A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome type 7A' SubClassOf 'etiological subtype' + 'Ehlers-Danlos syndrome type 7A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome type 7A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome, arthrochalasic type' + 'Ehlers-Danlos syndrome type 7A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122980 Label: laminin, gamma 2 - 'laminin, gamma 2' SubClassOf 'gene' - 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' - 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa inversa' - 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'laminin, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25-q31"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' + 'laminin, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa inversa' + 'laminin, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' Class: http://www.orpha.net/ORDO/Orphanet_263324 Label: Thymoma type AB - 'Thymoma type AB' SubClassOf 'part_of' some 'Thymoma' - 'Thymoma type AB' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymoma type AB' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymoma type AB' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thymoma type AB' SubClassOf 'histopathological subtype' + 'Thymoma type AB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymoma type AB' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Thymoma type AB' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymoma type AB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymoma' + 'Thymoma type AB' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_99876 Label: Ehlers-Danlos syndrome type 7B - 'Ehlers-Danlos syndrome type 7B' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome, arthrochalasic type' - 'Ehlers-Danlos syndrome type 7B' SubClassOf 'etiological subtype' - 'Ehlers-Danlos syndrome type 7B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ehlers-Danlos syndrome type 7B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ehlers-Danlos syndrome type 7B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome type 7B' SubClassOf 'etiological subtype' + 'Ehlers-Danlos syndrome type 7B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ehlers-Danlos syndrome type 7B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome type 7B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome, arthrochalasic type' Class: http://www.orpha.net/ORDO/Orphanet_99877 Label: Familial parathyroid adenoma - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Familial primary hyperparathyroidism' - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Rare parathyroid tumor' - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Genetic endocrine tumor' - 'Familial parathyroid adenoma' SubClassOf 'disease' + 'Familial parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parathyroid tumor' + 'Familial parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hyperparathyroidism' + 'Familial parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Familial parathyroid adenoma' SubClassOf 'disease' + 'Familial parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_99870 Label: Letterer-Siwe disease - 'Letterer-Siwe disease' SubClassOf 'disease' - 'Letterer-Siwe disease' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Letterer-Siwe disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Letterer-Siwe disease' SubClassOf 'part_of' some 'Langerhans cell histiocytosis specific to childhood' - 'Letterer-Siwe disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Letterer-Siwe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis specific to childhood' + 'Letterer-Siwe disease' SubClassOf 'disease' + 'Letterer-Siwe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Letterer-Siwe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis' + 'Letterer-Siwe disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Letterer-Siwe disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_168194 Label: Rare cardiac tumor - 'Rare cardiac tumor' SubClassOf 'group of disorders' + 'Rare cardiac tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99871 Label: Eosinophilic granuloma - 'Eosinophilic granuloma' SubClassOf 'part_of' some 'Langerhans cell histiocytosis in childhood and adulthood' - 'Eosinophilic granuloma' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Eosinophilic granuloma' SubClassOf 'disease' + 'Eosinophilic granuloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis' + 'Eosinophilic granuloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis in childhood and adulthood' + 'Eosinophilic granuloma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99872 Label: Hashimoto-Pritzker syndrome - 'Hashimoto-Pritzker syndrome' SubClassOf 'part_of' some 'Langerhans cell histiocytosis specific to childhood' - 'Hashimoto-Pritzker syndrome' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Hashimoto-Pritzker syndrome' SubClassOf 'disease' - 'Hashimoto-Pritzker syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hashimoto-Pritzker syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hashimoto-Pritzker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hashimoto-Pritzker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hashimoto-Pritzker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis' + 'Hashimoto-Pritzker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hashimoto-Pritzker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis specific to childhood' + 'Hashimoto-Pritzker syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99873 Label: Hand-Sch�ller-Christian disease - 'Hand-Sch�ller-Christian disease' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Hand-Sch�ller-Christian disease' SubClassOf 'part_of' some 'Langerhans cell histiocytosis in childhood and adulthood' - 'Hand-Sch�ller-Christian disease' SubClassOf 'disease' + 'Hand-Sch�ller-Christian disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis in childhood and adulthood' + 'Hand-Sch�ller-Christian disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Langerhans cell histiocytosis' + 'Hand-Sch�ller-Christian disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363060 Label: low density lipoprotein receptor-related protein associated protein 1 - 'low density lipoprotein receptor-related protein associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rare isolated myopia' - 'low density lipoprotein receptor-related protein associated protein 1' SubClassOf 'gene' + 'low density lipoprotein receptor-related protein associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor-related protein associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Rare isolated myopia' Class: http://www.orpha.net/ORDO/Orphanet_79360 Label: Other genetic epidermal disease - 'Other genetic epidermal disease' SubClassOf 'group of disorders' + 'Other genetic epidermal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79361 Label: Inherited epidermolysis bullosa - 'Inherited epidermolysis bullosa' SubClassOf 'group of disorders' + 'Inherited epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Inherited epidermolysis bullosa' SubClassOf 'group of disorders' + 'Inherited epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Inherited epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.96"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Inherited epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79362 Label: Epidermal appendage anomaly - 'Epidermal appendage anomaly' SubClassOf 'group of disorders' + 'Epidermal appendage anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79363 Label: Hair anomaly - 'Hair anomaly' SubClassOf 'group of disorders' + 'Hair anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261337 Label: Distal 22q11.2 microduplication syndrome - 'Distal 22q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 22' - 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Distal 22q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 22q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_99879 Label: Familial isolated hyperparathyroidism - 'Familial isolated hyperparathyroidism' SubClassOf 'disease' - 'Familial isolated hyperparathyroidism' SubClassOf 'part_of' some 'Familial primary hyperparathyroidism' + 'Familial isolated hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hyperparathyroidism' + 'Familial isolated hyperparathyroidism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79364 Label: Alopecia - 'Alopecia' SubClassOf 'group of disorders' + 'Alopecia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99878 Label: Primary parathyroids hyperplasia - 'Primary parathyroids hyperplasia' SubClassOf 'disease' - 'Primary parathyroids hyperplasia' SubClassOf 'part_of' some 'Familial primary hyperparathyroidism' + 'Primary parathyroids hyperplasia' SubClassOf 'disease' + 'Primary parathyroids hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_79365 Label: Hypertrichosis - 'Hypertrichosis' SubClassOf 'group of disorders' + 'Hypertrichosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79366 Label: Isolated hair shaft abnormality - 'Isolated hair shaft abnormality' SubClassOf 'group of disorders' + 'Isolated hair shaft abnormality' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329903 Label: Immunoglobulin-mediated membranoproliferative glomerulonephritis - 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'clinical subtype' - 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'part_of' some 'Primary membranoproliferative glomerulonephritis' + 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'clinical subtype' + 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_1708 Label: Mosaic trisomy 16 - 'Mosaic trisomy 16' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 16' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 16' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_79367 Label: Syndromic hair shaft abnormality - 'Syndromic hair shaft abnormality' SubClassOf 'group of disorders' + 'Syndromic hair shaft abnormality' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118807 Label: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 - 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf 'gene' - 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' - 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' + 'solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_1707 Label: Distal trisomy 15q - 'Distal trisomy 15q' SubClassOf 'part_of' some '15q overgrowth syndrome' - 'Distal trisomy 15q' SubClassOf 'etiological subtype' + 'Distal trisomy 15q' SubClassOf 'etiological subtype' + 'Distal trisomy 15q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '15q overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79368 Label: Nail anomaly - 'Nail anomaly' SubClassOf 'group of disorders' + 'Nail anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79369 Label: Isolated nail anomaly - 'Isolated nail anomaly' SubClassOf 'group of disorders' + 'Isolated nail anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122989 Label: lysosomal-associated membrane protein 2 - 'lysosomal-associated membrane protein 2' SubClassOf 'gene' - 'lysosomal-associated membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to LAMP-2 deficiency' + 'lysosomal-associated membrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysosomal-associated membrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq24"^^http://www.w3.org/2001/XMLSchema#string + 'lysosomal-associated membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to LAMP-2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_118803 Label: solute carrier family 25 (mitochondrial carrier: glutamate), member 22 - 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' - 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early myoclonic encephalopathy' - 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'gene' - 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early myoclonic encephalopathy' + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1703 Label: Mosaic trisomy 14 - 'Mosaic trisomy 14' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Mosaic trisomy 14' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 14' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_303758 Label: gremlin 1, DAN family BMP antagonist - 'gremlin 1, DAN family BMP antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' - 'gremlin 1, DAN family BMP antagonist' SubClassOf 'gene' + 'gremlin 1, DAN family BMP antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' + 'gremlin 1, DAN family BMP antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gremlin 1, DAN family BMP antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1706 Label: Mosaic trisomy 15 - 'Mosaic trisomy 15' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 15' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Mosaic trisomy 15' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1705 Label: Distal trisomy 14q - 'Distal trisomy 14q' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Distal trisomy 14q' SubClassOf 'malformation syndrome' - 'Distal trisomy 14q' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Distal trisomy 14q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 14' + 'Distal trisomy 14q' SubClassOf 'malformation syndrome' + 'Distal trisomy 14q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Distal trisomy 14q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 14' + 'Distal trisomy 14q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' Class: http://www.orpha.net/ORDO/Orphanet_99880 Label: Hyperparathyroidism-jaw tumor syndrome - 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' - 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'disease' - 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'part_of' some 'Familial primary hyperparathyroidism' + 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'disease' + 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_1711 Label: Mosaic trisomy 17 - 'Mosaic trisomy 17' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 17' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 17' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_1713 Label: 17p11.2 microduplication syndrome - '17p11.2 microduplication syndrome' SubClassOf 'malformation syndrome' - '17p11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' + '17p11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '17p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_122992 Label: like-glycosyltransferase - 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'like-glycosyltransferase' SubClassOf 'gene' - 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'like-glycosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'like-glycosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'like-glycosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122995 Label: linker for activation of T cells family, member 2 - 'linker for activation of T cells family, member 2' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'linker for activation of T cells family, member 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_99887 Label: Acute megakaryoblastic leukemia in Down syndrome - 'Acute megakaryoblastic leukemia in Down syndrome' SubClassOf 'clinical subtype' - 'Acute megakaryoblastic leukemia in Down syndrome' SubClassOf 'part_of' some 'Acute megakaryoblastic leukemia' + 'Acute megakaryoblastic leukemia in Down syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute megakaryoblastic leukemia' + 'Acute megakaryoblastic leukemia in Down syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_261344 Label: Trisomy 1q - 'Trisomy 1q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 1' - 'Trisomy 1q' SubClassOf 'malformation syndrome' + 'Trisomy 1q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 1' + 'Trisomy 1q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99885 Label: Permanent neonatal diabetes mellitus - 'Permanent neonatal diabetes mellitus' SubClassOf 'part_of' some 'Neonatal diabetes mellitus' - 'Permanent neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Permanent neonatal diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Permanent neonatal diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Permanent neonatal diabetes mellitus' SubClassOf 'disease' - 'Permanent neonatal diabetes mellitus' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Permanent neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410158) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Permanent neonatal diabetes mellitus' SubClassOf 'disease' + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Permanent neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal diabetes mellitus' + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Permanent neonatal diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99886 Label: Transient neonatal diabetes mellitus - 'Transient neonatal diabetes mellitus' SubClassOf 'disease' - 'Transient neonatal diabetes mellitus' SubClassOf 'part_of' some 'Neonatal diabetes mellitus' + 'Transient neonatal diabetes mellitus' SubClassOf 'disease' + 'Transient neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_371054 Label: X-linked congenital disorder of glycosylation with intellectual disability as a major feature - 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'group of disorders' + 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263335 Label: Moderately-differentiated thymic neuroendocrine carcinoma - 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' - 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Thymic neuroendocrine carcinoma' - 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic neuroendocrine carcinoma' + 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' + 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_263331 Label: Well-differentiated thymic neuroendocrine carcinoma - 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' - 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Thymic neuroendocrine carcinoma' - 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' + 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic neuroendocrine carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_166108 Label: Intellectual disability, Birk-Barel type - 'Intellectual disability, Birk-Barel type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability, Birk-Barel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability, Birk-Barel type' SubClassOf 'disease' - 'Intellectual disability, Birk-Barel type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability, Birk-Barel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability, Birk-Barel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability, Birk-Barel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability, Birk-Barel type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1770 Label: Gonadal dysgenesis, XY type - associated anomalies - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'malformation syndrome' - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'malformation syndrome' + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_99865 Label: Spermatocytic seminoma - 'Spermatocytic seminoma' SubClassOf 'disease' - 'Spermatocytic seminoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spermatocytic seminoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Spermatocytic seminoma' SubClassOf 'part_of' some 'Testicular germ cell tumor' + 'Spermatocytic seminoma' SubClassOf 'disease' + 'Spermatocytic seminoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spermatocytic seminoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Spermatocytic seminoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spermatocytic seminoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular germ cell tumor' + 'Spermatocytic seminoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_166105 Label: FASTKD2-related infantile mitochondrial encephalomyopathy - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'disease' - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'disease' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171612 Label: Autosomal dominant spastic paraplegia type 37 - 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 37' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 37' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_99860 Label: Precursor B-cell acute lymphoblastic leukemia - 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf 'part_of' some 'Acute lymphoblastic leukemia' - 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf 'disease' + 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute lymphoblastic leukemia' + 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263355 Label: ATR-X-related syndrome - 'ATR-X-related syndrome' SubClassOf 'group of disorders' + 'ATR-X-related syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99861 Label: Precursor T-cell acute lymphoblastic leukemia - 'Precursor T-cell acute lymphoblastic leukemia' SubClassOf 'disease' - 'Precursor T-cell acute lymphoblastic leukemia' SubClassOf 'part_of' some 'Acute lymphoblastic leukemia' + 'Precursor T-cell acute lymphoblastic leukemia' SubClassOf 'disease' + 'Precursor T-cell acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_166100 Label: Stickler syndrome type 3 - 'Stickler syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Stickler syndrome type 3' SubClassOf 'malformation syndrome' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Stickler syndrome type 3' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with collagen disease' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with collagen disease' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Stickler syndrome type 3' SubClassOf 'malformation syndrome' + 'Stickler syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Stickler syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_171617 Label: Autosomal dominant spastic paraplegia type 38 - 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 38' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant spastic paraplegia type 38' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1779 Label: Dysmorphism - cleft palate - loose skin - 'Dysmorphism - cleft palate - loose skin' SubClassOf 'malformation syndrome' - 'Dysmorphism - cleft palate - loose skin' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Dysmorphism - cleft palate - loose skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Dysmorphism - cleft palate - loose skin' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324294 Label: T-cell immunodeficiency with epidermodysplasia verruciformis - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'disease' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309152 Label: GM2 gangliosidosis - 'GM2 gangliosidosis' SubClassOf 'group of disorders' + 'GM2 gangliosidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1778 Label: Facial dysmorphism - shawl scrotum - joint laxity - 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'malformation syndrome' - 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'malformation syndrome' + 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1777 Label: Temtamy syndrome - 'Temtamy syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Temtamy syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Temtamy syndrome' SubClassOf 'malformation syndrome' - 'Temtamy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Temtamy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Temtamy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Temtamy syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Temtamy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Temtamy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Temtamy syndrome' SubClassOf 'malformation syndrome' + 'Temtamy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Temtamy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Temtamy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Temtamy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122974 Label: laminin, beta 3 - 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' - 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' - 'laminin, beta 3' SubClassOf 'gene' - 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' + 'laminin, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' + 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'laminin, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_309155 Label: Sandhoff disease, infantile form - 'Sandhoff disease, infantile form' SubClassOf 'clinical subtype' - 'Sandhoff disease, infantile form' SubClassOf 'part_of' some 'Sandhoff disease' + 'Sandhoff disease, infantile form' SubClassOf 'clinical subtype' + 'Sandhoff disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_1775 Label: Dyskeratosis congenita - 'Dyskeratosis congenita' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Dyskeratosis congenita' SubClassOf 'disease' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Hereditary poikiloderma' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Conjunctival tumor' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' - 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dyskeratosis congenita' SubClassOf 'disease' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' + 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conjunctival tumor' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Dyskeratosis congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dyskeratosis congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dyskeratosis congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_324290 Label: Early-onset Lafora body disease - 'Early-onset Lafora body disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset Lafora body disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset Lafora body disease' SubClassOf 'disease' - 'Early-onset Lafora body disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Early-onset Lafora body disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Early-onset Lafora body disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Early-onset Lafora body disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset Lafora body disease' SubClassOf 'disease' + 'Early-onset Lafora body disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset Lafora body disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_122971 Label: laminin, beta 2 (laminin S) - 'laminin, beta 2 (laminin S)' SubClassOf 'gene' - 'laminin, beta 2 (laminin S)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synaptic congenital myasthenic syndromes' - 'laminin, beta 2 (laminin S)' SubClassOf 'Disease-causing germline mutation(s) in' some 'LAMB2-related infantile-onset nephrotic syndrome' - 'laminin, beta 2 (laminin S)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pierson syndrome' + 'laminin, beta 2 (laminin S)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3-p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, beta 2 (laminin S)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Synaptic congenital myasthenic syndromes' + 'laminin, beta 2 (laminin S)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pierson syndrome' + 'laminin, beta 2 (laminin S)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, beta 2 (laminin S)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'LAMB2-related infantile-onset nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1772 Label: 45,X/46,XY mixed gonadal dysgenesis - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_inheritance' some 'sporadic' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'malformation syndrome' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_prevalence' some 'Unknown' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Variable' - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'part_of' some 'Y chromosome number anomaly' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Y chromosome number anomaly' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'malformation syndrome' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_79468 Label: Acanthokeratolytic verrucous nevus - 'Acanthokeratolytic verrucous nevus' SubClassOf 'clinical subtype' - 'Acanthokeratolytic verrucous nevus' SubClassOf 'part_of' some 'Linear verrucous nevus syndrome' + 'Acanthokeratolytic verrucous nevus' SubClassOf 'clinical subtype' + 'Acanthokeratolytic verrucous nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79467 Label: Verrucous nevus - 'Verrucous nevus' SubClassOf 'part_of' some 'Linear verrucous nevus syndrome' - 'Verrucous nevus' SubClassOf 'clinical subtype' + 'Verrucous nevus' SubClassOf 'clinical subtype' + 'Verrucous nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79466 Label: Inflammatory linear verrucous epidermal nevus - 'Inflammatory linear verrucous epidermal nevus' SubClassOf 'part_of' some 'Linear verrucous nevus syndrome' - 'Inflammatory linear verrucous epidermal nevus' SubClassOf 'clinical subtype' + 'Inflammatory linear verrucous epidermal nevus' SubClassOf 'clinical subtype' + 'Inflammatory linear verrucous epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324299 Label: Multiple paragangliomas associated with polycythemia - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'clinical subtype' - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Multiple paragangliomas associated with polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple paragangliomas associated with polycythemia' SubClassOf 'clinical subtype' + 'Multiple paragangliomas associated with polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Multiple paragangliomas associated with polycythemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_99856 Label: Primary syringomyelia - 'Primary syringomyelia' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Primary syringomyelia' SubClassOf 'morphological anomaly' - 'Primary syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' + 'Primary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syringomyelia' + 'Primary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the neurenteric canal, spinal cord and column' + 'Primary syringomyelia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99857 Label: Secondary syringomyelia - 'Secondary syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' - 'Secondary syringomyelia' SubClassOf 'disease' + 'Secondary syringomyelia' SubClassOf 'disease' + 'Secondary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99858 Label: Idiopathic syringomyelia - 'Idiopathic syringomyelia' SubClassOf 'clinical subtype' - 'Idiopathic syringomyelia' SubClassOf 'part_of' some 'Primary syringomyelia' + 'Idiopathic syringomyelia' SubClassOf 'clinical subtype' + 'Idiopathic syringomyelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99854 Label: Cree leukoencephalopathy - 'Cree leukoencephalopathy' SubClassOf 'clinical subtype' - 'Cree leukoencephalopathy' SubClassOf 'part_of' some 'CACH syndrome' + 'Cree leukoencephalopathy' SubClassOf 'clinical subtype' + 'Cree leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206613 Label: Infectious disease with peripheral neuropathy - 'Infectious disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Infectious disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_263347 Label: MRCS syndrome - 'MRCS syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MRCS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MRCS syndrome' SubClassOf 'disease' - 'MRCS syndrome' SubClassOf 'part_of' some 'Retinal dystrophy' - 'MRCS syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'MRCS syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'MRCS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'MRCS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MRCS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MRCS syndrome' SubClassOf 'disease' + 'MRCS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'MRCS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_99853 Label: Ovarioleukodystrophy - 'Ovarioleukodystrophy' SubClassOf 'clinical subtype' - 'Ovarioleukodystrophy' SubClassOf 'part_of' some 'CACH syndrome' + 'Ovarioleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' + 'Ovarioleukodystrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_166119 Label: Isolated osteopoikilosis - 'Isolated osteopoikilosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Isolated osteopoikilosis' SubClassOf 'disease' + 'Isolated osteopoikilosis' SubClassOf 'disease' + 'Isolated osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_99852 Label: RAVINE syndrome - 'RAVINE syndrome' SubClassOf 'part_of' some 'Leukodystrophy' - 'RAVINE syndrome' SubClassOf 'disease' - 'RAVINE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'RAVINE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'RAVINE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'RAVINE syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_166113 Label: Bazex syndrome - 'Bazex syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Bazex syndrome' SubClassOf 'disease' - 'Bazex syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bazex syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bazex syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Bazex syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Bazex syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Bazex syndrome' SubClassOf 'disease' + 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Bazex syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bazex syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_122964 Label: laminin, alpha 3 - 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' - 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'LOC syndrome' - 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' - 'laminin, alpha 3' SubClassOf 'gene' + 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'LOC syndrome' + 'laminin, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Junctional epidermolysis bullosa, Herlitz type' + 'laminin, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1766 Label: Dysequilibrium syndrome - 'Dysequilibrium syndrome' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' - 'Dysequilibrium syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Dysequilibrium syndrome' SubClassOf 'disease' - 'Dysequilibrium syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dysequilibrium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dysequilibrium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital cerebellar ataxia' + 'Dysequilibrium syndrome' SubClassOf 'disease' + 'Dysequilibrium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dysequilibrium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1765 Label: Dyschondrosteosis - nephritis - 'Dyschondrosteosis - nephritis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dyschondrosteosis - nephritis' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Dyschondrosteosis - nephritis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Dyschondrosteosis - nephritis' SubClassOf 'malformation syndrome' - 'Dyschondrosteosis - nephritis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dyschondrosteosis - nephritis' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Dyschondrosteosis - nephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dyschondrosteosis - nephritis' SubClassOf 'malformation syndrome' + 'Dyschondrosteosis - nephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Dyschondrosteosis - nephritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dyschondrosteosis - nephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_309162 Label: Sandhoff disease, juvenile form - 'Sandhoff disease, juvenile form' SubClassOf 'clinical subtype' - 'Sandhoff disease, juvenile form' SubClassOf 'part_of' some 'Sandhoff disease' + 'Sandhoff disease, juvenile form' SubClassOf 'clinical subtype' + 'Sandhoff disease, juvenile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_1768 Label: Familial caudal dysgenesis - 'Familial caudal dysgenesis' SubClassOf 'malformation syndrome' - 'Familial caudal dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial caudal dysgenesis' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Familial caudal dysgenesis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Familial caudal dysgenesis' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Familial caudal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial caudal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Familial caudal dysgenesis' SubClassOf 'malformation syndrome' + 'Familial caudal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial caudal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Familial caudal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Familial caudal dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_171607 Label: X-linked spastic paraplegia type 34 - 'X-linked spastic paraplegia type 34' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked spastic paraplegia type 34' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spastic paraplegia type 34' SubClassOf 'part_of' some 'X-linked pure spastic paraplegia' - 'X-linked spastic paraplegia type 34' SubClassOf 'disease' - 'X-linked spastic paraplegia type 34' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'X-linked spastic paraplegia type 34' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked spastic paraplegia type 34' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked spastic paraplegia type 34' SubClassOf 'disease' + 'X-linked spastic paraplegia type 34' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked spastic paraplegia type 34' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked spastic paraplegia type 34' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spastic paraplegia type 34' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1762 Label: Trisomy Xq28 - 'Trisomy Xq28' SubClassOf 'malformation syndrome' - 'Trisomy Xq28' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Trisomy Xq28' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X' - 'Trisomy Xq28' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trisomy Xq28' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Trisomy Xq28' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Trisomy Xq28' SubClassOf 'malformation syndrome' + 'Trisomy Xq28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Trisomy Xq28' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trisomy Xq28' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy Xq28' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy Xq28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trisomy Xq28' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_309169 Label: Sandhoff disease, adult form - 'Sandhoff disease, adult form' SubClassOf 'part_of' some 'Sandhoff disease' - 'Sandhoff disease, adult form' SubClassOf 'clinical subtype' + 'Sandhoff disease, adult form' SubClassOf 'clinical subtype' + 'Sandhoff disease, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_1764 Label: Familial dysautonomia - 'Familial dysautonomia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Familial dysautonomia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Primary orthostatic hypotension' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Familial dysautonomia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Familial dysautonomia' SubClassOf 'part_of' some 'Congenital alacrima' - 'Familial dysautonomia' SubClassOf 'disease' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'Familial dysautonomia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital alacrima' + 'Familial dysautonomia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial dysautonomia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial dysautonomia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial dysautonomia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' + 'Familial dysautonomia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122961 Label: laminin, alpha 2 - 'laminin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy type 1A' - 'laminin, alpha 2' SubClassOf 'gene' + 'laminin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'laminin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy type 1A' + 'laminin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118908 Label: alpha thalassemia/mental retardation syndrome X-linked - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-Lowry-Hoar syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter-Waziri syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Fineman-Myers syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Alpha-thalassemia - myelodysplastic syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'gene' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holmes-Gang syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-thalassemia - X-linked intellectual disability syndrome' - 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juberg-Marsidi syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-Lowry-Hoar syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carpenter-Waziri syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Fineman-Myers syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Alpha-thalassemia - myelodysplastic syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Holmes-Gang syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-thalassemia - X-linked intellectual disability syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juberg-Marsidi syndrome' + 'alpha thalassemia/mental retardation syndrome X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79455 Label: Cutaneous mastocytoma - 'Cutaneous mastocytoma' SubClassOf 'part_of' some 'Cutaneous mastocytosis' - 'Cutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cutaneous mastocytoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutaneous mastocytoma' SubClassOf 'disease' - 'Cutaneous mastocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Cutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous mastocytosis' + 'Cutaneous mastocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous mastocytoma' SubClassOf 'disease' + 'Cutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_118918 Label: ataxin 10 - 'ataxin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 10' - 'ataxin 10' SubClassOf 'gene' + 'ataxin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ataxin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string + 'ataxin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 10' Class: http://www.orpha.net/ORDO/Orphanet_79457 Label: Maculopapular cutaneous mastocytosis - 'Maculopapular cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Maculopapular cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Maculopapular cutaneous mastocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Maculopapular cutaneous mastocytosis' SubClassOf 'part_of' some 'Cutaneous mastocytosis' - 'Maculopapular cutaneous mastocytosis' SubClassOf 'disease' + 'Maculopapular cutaneous mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "450.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Maculopapular cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous mastocytosis' + 'Maculopapular cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maculopapular cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Maculopapular cutaneous mastocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79456 Label: Diffuse cutaneous mastocytosis - 'Diffuse cutaneous mastocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse cutaneous mastocytosis' SubClassOf 'part_of' some 'Cutaneous mastocytosis' - 'Diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse cutaneous mastocytosis' SubClassOf 'disease' - 'Diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diffuse cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse cutaneous mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous mastocytosis' + 'Diffuse cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse cutaneous mastocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79459 Label: Follicular atrophoderma-basal cell carcinoma - 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'clinical subtype' - 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'part_of' some 'Bazex-Dupr�-Christol syndrome' + 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'clinical subtype' + 'Follicular atrophoderma-basal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bazex-Dupr�-Christol syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118913 Label: ataxin 1 - 'ataxin 1' SubClassOf 'gene' - 'ataxin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 1' + 'ataxin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p23"^^http://www.w3.org/2001/XMLSchema#string + 'ataxin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ataxin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_79458 Label: Oley syndrome - 'Oley syndrome' SubClassOf 'part_of' some 'Congenital absence of the eyebrow/eyelashes' - 'Oley syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Oley syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Oley syndrome' SubClassOf 'malformation syndrome' - 'Oley syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Oley syndrome' SubClassOf 'part_of' some 'Malignant tumor of palpebral epidermis' + 'Oley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of palpebral epidermis' + 'Oley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Oley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of the eyebrow/eyelashes' + 'Oley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Oley syndrome' SubClassOf 'malformation syndrome' + 'Oley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' Class: http://www.orpha.net/ORDO/Orphanet_122957 Label: L-2-hydroxyglutarate dehydrogenase - 'L-2-hydroxyglutarate dehydrogenase' SubClassOf 'gene' - 'L-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'L-2-hydroxyglutaric aciduria' + 'L-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'L-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'L-2-hydroxyglutaric aciduria' + 'L-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1759 Label: Thoraco-abdominal enteric duplication - 'Thoraco-abdominal enteric duplication' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Thoraco-abdominal enteric duplication' SubClassOf 'malformation syndrome' + 'Thoraco-abdominal enteric duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Thoraco-abdominal enteric duplication' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233655 Label: Rare genetic vascular disease - 'Rare genetic vascular disease' SubClassOf 'group of disorders' + 'Rare genetic vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99849 Label: Glycogen storage disease due to muscle beta-enolase deficiency - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_79450 Label: Non hereditary congenital primary lymphedema - 'Non hereditary congenital primary lymphedema' SubClassOf 'disease' - 'Non hereditary congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non hereditary congenital primary lymphedema' SubClassOf 'has_prevalence' some 'Unknown' - 'Non hereditary congenital primary lymphedema' SubClassOf 'part_of' some 'Congenital primary lymphedema' + 'Non hereditary congenital primary lymphedema' SubClassOf 'disease' + 'Non hereditary congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non hereditary congenital primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary lymphedema' + 'Non hereditary congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99845 Label: Genetic recurrent myoglobinuria - 'Genetic recurrent myoglobinuria' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' - 'Genetic recurrent myoglobinuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some 'sporadic' - 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Genetic recurrent myoglobinuria' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Genetic recurrent myoglobinuria' SubClassOf 'part_of' some 'Other metabolic disease' - 'Genetic recurrent myoglobinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Genetic recurrent myoglobinuria' SubClassOf 'disease' + 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Genetic recurrent myoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Genetic recurrent myoglobinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genetic recurrent myoglobinuria' SubClassOf 'disease' + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_99846 Label: Autosomal dominant myoglobinuria - 'Autosomal dominant myoglobinuria' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Autosomal dominant myoglobinuria' SubClassOf 'disease' - 'Autosomal dominant myoglobinuria' SubClassOf 'part_of' some 'Other metabolic disease' + 'Autosomal dominant myoglobinuria' SubClassOf 'disease' + 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' Class: http://www.orpha.net/ORDO/Orphanet_79452 Label: Milroy disease - 'Milroy disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Milroy disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Milroy disease' SubClassOf 'disease' - 'Milroy disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Milroy disease' SubClassOf 'part_of' some 'Congenital primary lymphedema' + 'Milroy disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Milroy disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital primary lymphedema' + 'Milroy disease' SubClassOf 'disease' + 'Milroy disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Milroy disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Milroy disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_263339 Label: Poorly differentiated thymic neuroendocrine carcinoma - 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Thymic neuroendocrine carcinoma' - 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' - 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'histopathological subtype' + 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thymic neuroendocrine carcinoma' + 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_99842 Label: Leukocyte adhesion deficiency type I - 'Leukocyte adhesion deficiency type I' SubClassOf 'part_of' some 'Leukocyte adhesion deficiency' - 'Leukocyte adhesion deficiency type I' SubClassOf 'clinical subtype' - 'Leukocyte adhesion deficiency type I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukocyte adhesion deficiency type I' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Leukocyte adhesion deficiency type I' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Leukocyte adhesion deficiency type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukocyte adhesion deficiency type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukocyte adhesion deficiency type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Leukocyte adhesion deficiency type I' SubClassOf 'clinical subtype' + 'Leukocyte adhesion deficiency type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukocyte adhesion deficiency' Class: http://www.orpha.net/ORDO/Orphanet_206644 Label: Progressive muscular dystrophy - 'Progressive muscular dystrophy' SubClassOf 'group of disorders' + 'Progressive muscular dystrophy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99844 Label: Leukocyte adhesion deficiency type III - 'Leukocyte adhesion deficiency type III' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukocyte adhesion deficiency type III' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukocyte adhesion deficiency type III' SubClassOf 'part_of' some 'Leukocyte adhesion deficiency' - 'Leukocyte adhesion deficiency type III' SubClassOf 'part_of' some 'Osteopetrosis' - 'Leukocyte adhesion deficiency type III' SubClassOf 'clinical subtype' - 'Leukocyte adhesion deficiency type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Leukocyte adhesion deficiency type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukocyte adhesion deficiency' + 'Leukocyte adhesion deficiency type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukocyte adhesion deficiency type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Leukocyte adhesion deficiency type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukocyte adhesion deficiency type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukocyte adhesion deficiency type III' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99843 Label: Leukocyte adhesion deficiency type II - 'Leukocyte adhesion deficiency type II' SubClassOf 'clinical subtype' - 'Leukocyte adhesion deficiency type II' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Leukocyte adhesion deficiency type II' SubClassOf 'part_of' some 'Leukocyte adhesion deficiency' - 'Leukocyte adhesion deficiency type II' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'Leukocyte adhesion deficiency type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukocyte adhesion deficiency type II' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Leukocyte adhesion deficiency type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukocyte adhesion deficiency type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Leukocyte adhesion deficiency type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukocyte adhesion deficiency type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukocyte adhesion deficiency type II' SubClassOf 'clinical subtype' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Leukocyte adhesion deficiency type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukocyte adhesion deficiency' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_171634 Label: AF4/FMR2 family, member 1 - 'AF4/FMR2 family, member 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'AF4/FMR2 family, member 1' SubClassOf 'gene' + 'AF4/FMR2 family, member 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'AF4/FMR2 family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'AF4/FMR2 family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206647 Label: Myotonic dystrophy - 'Myotonic dystrophy' SubClassOf 'group of disorders' + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf 'group of disorders' + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "189.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myotonic dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_309178 Label: Tay-Sachs disease, B variant, infantile form - 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'part_of' some 'Tay-Sachs disease' - 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_168268 Label: TSEN54 tRNA splicing endonuclease subunit - 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 5' - 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 4' - 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'gene' - 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' - 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 5' + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 4' + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' + 'TSEN54 tRNA splicing endonuclease subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_1752 Label: Trisomy 8q - 'Trisomy 8q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 8q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 8' - 'Trisomy 8q' SubClassOf 'malformation syndrome' - 'Trisomy 8q' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Trisomy 8q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 8q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trisomy 8q' SubClassOf 'malformation syndrome' + 'Trisomy 8q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 8q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_1757 Label: Fibular dimelia - diplopodia - 'Fibular dimelia - diplopodia' SubClassOf 'has_inheritance' some 'sporadic' - 'Fibular dimelia - diplopodia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fibular dimelia - diplopodia' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Fibular dimelia - diplopodia' SubClassOf 'malformation syndrome' - 'Fibular dimelia - diplopodia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fibular dimelia - diplopodia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fibular dimelia - diplopodia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fibular dimelia - diplopodia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Fibular dimelia - diplopodia' SubClassOf 'malformation syndrome' + 'Fibular dimelia - diplopodia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1756 Label: Caudal duplication - 'Caudal duplication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Caudal duplication' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Caudal duplication' SubClassOf 'malformation syndrome' - 'Caudal duplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Caudal duplication' SubClassOf 'has_prevalence' some 'Unknown' - 'Caudal duplication' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Caudal duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Caudal duplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Caudal duplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Caudal duplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Caudal duplication' SubClassOf 'malformation syndrome' + 'Caudal duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_46348 Label: Paroxysmal extreme pain disorder - 'Paroxysmal extreme pain disorder' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Paroxysmal extreme pain disorder' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Paroxysmal extreme pain disorder' SubClassOf 'disease' - 'Paroxysmal extreme pain disorder' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paroxysmal extreme pain disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paroxysmal extreme pain disorder' SubClassOf 'part_of' some 'Rare genetic neurological disorder' + 'Paroxysmal extreme pain disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Paroxysmal extreme pain disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paroxysmal extreme pain disorder' SubClassOf 'disease' + 'Paroxysmal extreme pain disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal extreme pain disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paroxysmal extreme pain disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Paroxysmal extreme pain disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122948 Label: L1 cell adhesion molecule - 'L1 cell adhesion molecule' SubClassOf 'gene' - 'L1 cell adhesion molecule' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked complicated spastic paraplegia type 1' - 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrocephalus with stenosis of the aqueduct of Sylvius' - 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked complicated corpus callosum dysgenesis' - 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'MASA syndrome' + 'L1 cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'L1 cell adhesion molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked complicated spastic paraplegia type 1' + 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrocephalus with stenosis of the aqueduct of Sylvius' + 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked complicated corpus callosum dysgenesis' + 'L1 cell adhesion molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'MASA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122945 Label: keratin 9 - 'keratin 9' SubClassOf 'gene' - 'keratin 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' + 'keratin 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_1747 Label: Mosaic trisomy 7 - 'Mosaic trisomy 7' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 7' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 7' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_79447 Label: X-linked lethal multiple pterygium syndrome - 'X-linked lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple pterygium syndrome' - 'X-linked lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' + 'X-linked lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple pterygium syndrome' + 'X-linked lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79445 Label: Pseudopseudohypoparathyroidism - 'Pseudopseudohypoparathyroidism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudopseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some 'Albright hereditary osteodystrophy' - 'Pseudopseudohypoparathyroidism' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudopseudohypoparathyroidism' SubClassOf 'clinical subtype' + 'Pseudopseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pseudopseudohypoparathyroidism' SubClassOf 'clinical subtype' + 'Pseudopseudohypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudopseudohypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79444 Label: Pseudohypoparathyroidism type 1C - 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some 'Albright hereditary osteodystrophy' - 'Pseudohypoparathyroidism type 1C' SubClassOf 'clinical subtype' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudohypoparathyroidism type 1C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoparathyroidism type 1C' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79443 Label: Pseudohypoparathyroidism type 1A - 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoparathyroidism type 1A' SubClassOf 'clinical subtype' - 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some 'Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'clinical subtype' + 'Pseudohypoparathyroidism type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_394615 Label: synaptojanin 1 - 'synaptojanin 1' SubClassOf 'gene' - 'synaptojanin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'synaptojanin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'synaptojanin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synaptojanin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_171640 Label: transcription factor 3 - 'transcription factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'transcription factor 3' SubClassOf 'gene' - 'transcription factor 3' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'transcription factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'transcription factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'transcription factor 3' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_371007 Label: Congenital muscular dystrophy with hyperlaxity - 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'disease' + 'Congenital muscular dystrophy with hyperlaxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121493 Label: ATPase type 13A2 - 'ATPase type 13A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kufor-Rakeb syndrome' - 'ATPase type 13A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonim due to ATP13A2 deficiency' - 'ATPase type 13A2' SubClassOf 'gene' + 'ATPase type 13A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase type 13A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kufor-Rakeb syndrome' + 'ATPase type 13A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase type 13A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonim due to ATP13A2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_168272 Label: FAST kinase domains 2 - 'FAST kinase domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FASTKD2-related infantile mitochondrial encephalomyopathy' - 'FAST kinase domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'FAST kinase domains 2' SubClassOf 'gene' + 'FAST kinase domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FASTKD2-related infantile mitochondrial encephalomyopathy' + 'FAST kinase domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FAST kinase domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'FAST kinase domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_371024 Label: Qualitative or quantitative defects of alpha-dystroglycan - 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171622 Label: Autosomal recessive spastic paraplegia type 32 - 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 32' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 32' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_206634 Label: Genetic skeletal muscle disease - 'Genetic skeletal muscle disease' SubClassOf 'group of disorders' + 'Genetic skeletal muscle disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99832 Label: Resistance to thyrotropin-releasing hormone syndrome - 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'disease' - 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'disease' + 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_206638 Label: Acquired skeletal muscle disease - 'Acquired skeletal muscle disease' SubClassOf 'group of disorders' + 'Acquired skeletal muscle disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122940 Label: keratin 86 - 'keratin 86' SubClassOf 'gene' - 'keratin 86' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'keratin 86' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 86' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'keratin 86' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1742 Label: Trisomy 5p - 'Trisomy 5p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trisomy 5p' SubClassOf 'malformation syndrome' - 'Trisomy 5p' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 5p' SubClassOf 'part_of' some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' - 'Trisomy 5p' SubClassOf 'part_of' some 'Chromosomal disease with overgrowth' - 'Trisomy 5p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Trisomy 5p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal disease with overgrowth' + 'Trisomy 5p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 5p' SubClassOf 'malformation syndrome' + 'Trisomy 5p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 5p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 5p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 5p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_255117 Label: Autosomal dominant optic atrophy and late-onset deafness - 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121497 Label: ATPase, Na+/K+ transporting, alpha 2 polypeptide - 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' - 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'gene' + 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_309185 Label: Tay-Sachs disease, B variant, juvenile form - 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'clinical subtype' - 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'part_of' some 'Tay-Sachs disease' + 'Tay-Sachs disease, B variant, juvenile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tay-Sachs disease' + 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_171629 Label: Autosomal recessive spastic paraplegia type 35 - 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 35' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 35' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1745 Label: Distal trisomy 6p - 'Distal trisomy 6p' SubClassOf 'malformation syndrome' - 'Distal trisomy 6p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal trisomy 6p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 6' - 'Distal trisomy 6p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Distal trisomy 6p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal trisomy 6p' SubClassOf 'malformation syndrome' + 'Distal trisomy 6p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 6' + 'Distal trisomy 6p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Distal trisomy 6p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_324262 Label: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'clinical subtype' - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'clinical subtype' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122936 Label: keratin 85 - 'keratin 85' SubClassOf 'gene' - 'keratin 85' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' + 'keratin 85' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' + 'keratin 85' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 85' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1738 Label: Trisomy 4p - 'Trisomy 4p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 4' - 'Trisomy 4p' SubClassOf 'malformation syndrome' + 'Trisomy 4p' SubClassOf 'malformation syndrome' + 'Trisomy 4p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_79433 Label: Oculocutaneous albinism type 3 - 'Oculocutaneous albinism type 3' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculocutaneous albinism type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 3' SubClassOf 'disease' - 'Oculocutaneous albinism type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Oculocutaneous albinism type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 3' SubClassOf 'disease' + 'Oculocutaneous albinism type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79432 Label: Oculocutaneous albinism type 2 - 'Oculocutaneous albinism type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 2' SubClassOf 'disease' - 'Oculocutaneous albinism type 2' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculocutaneous albinism type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 2' SubClassOf 'disease' + 'Oculocutaneous albinism type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "46.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79435 Label: Oculocutaneous albinism type 4 - 'Oculocutaneous albinism type 4' SubClassOf 'disease' - 'Oculocutaneous albinism type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 4' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Oculocutaneous albinism type 4' SubClassOf 'part_of' some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 4' SubClassOf 'disease' + 'Oculocutaneous albinism type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_79434 Label: Oculocutaneous albinism type 1B - 'Oculocutaneous albinism type 1B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 1B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 1B' SubClassOf 'clinical subtype' - 'Oculocutaneous albinism type 1B' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Oculocutaneous albinism type 1B' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculocutaneous albinism type 1B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' + 'Oculocutaneous albinism type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 1B' SubClassOf 'clinical subtype' + 'Oculocutaneous albinism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99825 Label: Nipah virus disease - 'Nipah virus disease' SubClassOf 'disease' - 'Nipah virus disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nipah virus disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nipah virus disease' SubClassOf 'part_of' some 'Infectious encephalitis' + 'Nipah virus disease' SubClassOf 'disease' + 'Nipah virus disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nipah virus disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nipah virus disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_99826 Label: Marburg hemorrhagic fever - 'Marburg hemorrhagic fever' SubClassOf 'disease' - 'Marburg hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Marburg hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Marburg hemorrhagic fever' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Marburg hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Marburg hemorrhagic fever' SubClassOf 'disease' + 'Marburg hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Marburg hemorrhagic fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79431 Label: Oculocutaneous albinism type 1A - 'Oculocutaneous albinism type 1A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 1A' SubClassOf 'clinical subtype' - 'Oculocutaneous albinism type 1A' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Oculocutaneous albinism type 1A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 1A' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculocutaneous albinism type 1A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism type 1A' SubClassOf 'clinical subtype' + 'Oculocutaneous albinism type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism type 1A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 1A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' + 'Oculocutaneous albinism type 1A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99824 Label: Lassa fever - 'Lassa fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lassa fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Lassa fever' SubClassOf 'disease' - 'Lassa fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Lassa fever' SubClassOf 'disease' + 'Lassa fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Lassa fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_79430 Label: Hermansky-Pudlak syndrome - 'Hermansky-Pudlak syndrome' SubClassOf 'part_of' some 'Syndromic oculocutaneous albinism' - 'Hermansky-Pudlak syndrome' SubClassOf 'disease' - 'Hermansky-Pudlak syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hermansky-Pudlak syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hermansky-Pudlak syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hermansky-Pudlak syndrome' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' - 'Hermansky-Pudlak syndrome' SubClassOf 'part_of' some 'Dense granule disease' + 'Hermansky-Pudlak syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410170) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "55.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic oculocutaneous albinism' + 'Hermansky-Pudlak syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hermansky-Pudlak syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal-related organelles' + 'Hermansky-Pudlak syndrome' SubClassOf 'disease' + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dense granule disease' + 'Hermansky-Pudlak syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hermansky-Pudlak syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99829 Label: Yellow fever - 'Yellow fever' SubClassOf 'part_of' some 'Arbovirus fever' - 'Yellow fever' SubClassOf 'disease' - 'Yellow fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Yellow fever' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Yellow fever' SubClassOf 'disease' + 'Yellow fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Yellow fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arbovirus fever' Class: http://www.orpha.net/ORDO/Orphanet_99827 Label: Crimean-Congo hemorrhagic fever - 'Crimean-Congo hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Crimean-Congo hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Crimean-Congo hemorrhagic fever' SubClassOf 'disease' - 'Crimean-Congo hemorrhagic fever' SubClassOf 'has_prevalence' some 'Unknown' + 'Crimean-Congo hemorrhagic fever' SubClassOf 'disease' + 'Crimean-Congo hemorrhagic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Crimean-Congo hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_99828 Label: Dengue fever - 'Dengue fever' SubClassOf 'part_of' some 'Arbovirus fever' - 'Dengue fever' SubClassOf 'has_prevalence' some 'Unknown' - 'Dengue fever' SubClassOf 'disease' - 'Dengue fever' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Dengue fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Dengue fever' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1300.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Dengue fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arbovirus fever' + 'Dengue fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122932 Label: keratin 83 - 'keratin 83' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' - 'keratin 83' SubClassOf 'gene' + 'keratin 83' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'keratin 83' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 83' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_83472 Label: CAMOS syndrome - 'CAMOS syndrome' SubClassOf 'malformation syndrome' - 'CAMOS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CAMOS syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'CAMOS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CAMOS syndrome' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' - 'CAMOS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CAMOS syndrome' SubClassOf 'malformation syndrome' + 'CAMOS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CAMOS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CAMOS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital cerebellar ataxia' + 'CAMOS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_83471 Label: Thymic aplasia - 'Thymic aplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Thymic aplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymic aplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thymic aplasia' SubClassOf 'part_of' some 'Immunodeficiency due to absence of thymus' - 'Thymic aplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thymic aplasia' SubClassOf 'disease' + 'Thymic aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thymic aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to absence of thymus' + 'Thymic aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Thymic aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thymic aplasia' SubClassOf 'disease' + 'Thymic aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_159810 Label: phosphorylase kinase, gamma 2 (testis) - 'phosphorylase kinase, gamma 2 (testis)' SubClassOf 'gene' - 'phosphorylase kinase, gamma 2 (testis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver phosphorylase kinase deficiency' + 'phosphorylase kinase, gamma 2 (testis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver phosphorylase kinase deficiency' + 'phosphorylase kinase, gamma 2 (testis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase kinase, gamma 2 (testis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_158766 Label: Typical urticaria pigmentosa - 'Typical urticaria pigmentosa' SubClassOf 'clinical subtype' - 'Typical urticaria pigmentosa' SubClassOf 'part_of' some 'Maculopapular cutaneous mastocytosis' + 'Typical urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maculopapular cutaneous mastocytosis' + 'Typical urticaria pigmentosa' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_158769 Label: Plaque-form urticaria pigmentosa - 'Plaque-form urticaria pigmentosa' SubClassOf 'clinical subtype' - 'Plaque-form urticaria pigmentosa' SubClassOf 'part_of' some 'Maculopapular cutaneous mastocytosis' + 'Plaque-form urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maculopapular cutaneous mastocytosis' + 'Plaque-form urticaria pigmentosa' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_83473 Label: Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_inheritance' some 'sporadic' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'malformation syndrome' + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'malformation syndrome' + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_309111 Label: Combined pancreatic lipase-colipase deficiency - 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'disease' - 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'part_of' some 'Disorder of lipid absorption and transport' + 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'disease' + 'Combined pancreatic lipase-colipase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_83476 Label: West-Nile encephalitis - 'West-Nile encephalitis' SubClassOf 'disease' - 'West-Nile encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'West-Nile encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'West-Nile encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'West-Nile encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'West-Nile encephalitis' SubClassOf 'has_prevalence' some 'Unknown' + 'West-Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'West-Nile encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'West-Nile encephalitis' SubClassOf 'disease' + 'West-Nile encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'West-Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'West-Nile encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.92"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_159813 Label: pleiomorphic adenoma gene-like 1 - 'pleiomorphic adenoma gene-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' - 'pleiomorphic adenoma gene-like 1' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 6' - 'pleiomorphic adenoma gene-like 1' SubClassOf 'gene' + 'pleiomorphic adenoma gene-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' + 'pleiomorphic adenoma gene-like 1' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 6' + 'pleiomorphic adenoma gene-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24-q25"^^http://www.w3.org/2001/XMLSchema#string + 'pleiomorphic adenoma gene-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206662 Label: Inclusion myopathy - 'Inclusion myopathy' SubClassOf 'group of disorders' + 'Inclusion myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_218358 Label: syntrophin, alpha 1 - 'syntrophin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'syntrophin, alpha 1' SubClassOf 'gene' + 'syntrophin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'syntrophin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'syntrophin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171659 Label: core-binding factor, beta subunit - 'core-binding factor, beta subunit' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' - 'core-binding factor, beta subunit' SubClassOf 'gene' + 'core-binding factor, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'core-binding factor, beta subunit' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'core-binding factor, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99817 Label: Non-polyposis Turcot syndrome - 'Non-polyposis Turcot syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Non-polyposis Turcot syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-polyposis Turcot syndrome' SubClassOf 'part_of' some 'Hereditary nonpolyposis colon cancer' - 'Non-polyposis Turcot syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Non-polyposis Turcot syndrome' SubClassOf 'disease' - 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Non-polyposis Turcot syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Non-polyposis Turcot syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary nonpolyposis colon cancer' + 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-polyposis Turcot syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Non-polyposis Turcot syndrome' SubClassOf 'disease' + 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99819 Label: Familial gestational hyperthyroidism - 'Familial gestational hyperthyroidism' SubClassOf 'part_of' some 'Rare hyperthyroidism' - 'Familial gestational hyperthyroidism' SubClassOf 'disease' - 'Familial gestational hyperthyroidism' SubClassOf 'part_of' some 'Genetic hypertension' - 'Familial gestational hyperthyroidism' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Familial gestational hyperthyroidism' SubClassOf 'disease' + 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_99818 Label: Turcot syndrome with polyposis - 'Turcot syndrome with polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Turcot syndrome with polyposis' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Turcot syndrome with polyposis' SubClassOf 'part_of' some 'Familial adenomatous polyposis' - 'Turcot syndrome with polyposis' SubClassOf 'clinical subtype' - 'Turcot syndrome with polyposis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Turcot syndrome with polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Turcot syndrome with polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial adenomatous polyposis' + 'Turcot syndrome with polyposis' SubClassOf 'clinical subtype' + 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99812 Label: LIG4 syndrome - 'LIG4 syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LIG4 syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'LIG4 syndrome' SubClassOf 'disease' - 'LIG4 syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'LIG4 syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'LIG4 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'LIG4 syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'LIG4 syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LIG4 syndrome' SubClassOf 'disease' + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'LIG4 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LIG4 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'LIG4 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_171663 Label: runt-related transcription factor 1; translocated to, 1 (cyclin D-related) - 'runt-related transcription factor 1; translocated to, 1 (cyclin D-related)' SubClassOf 'gene' - 'runt-related transcription factor 1; translocated to, 1 (cyclin D-related)' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'runt-related transcription factor 1; translocated to, 1 (cyclin D-related)' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'runt-related transcription factor 1; translocated to, 1 (cyclin D-related)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22"^^http://www.w3.org/2001/XMLSchema#string + 'runt-related transcription factor 1; translocated to, 1 (cyclin D-related)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_309115 Label: Disorder of mitochondrial fatty acid oxidation - 'Disorder of mitochondrial fatty acid oxidation' SubClassOf 'group of disorders' + 'Disorder of mitochondrial fatty acid oxidation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_83467 Label: Morvan syndrome - 'Morvan syndrome' SubClassOf 'disease' - 'Morvan syndrome' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Morvan syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' + 'Morvan syndrome' SubClassOf 'disease' + 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_83468 Label: Solitary bone cyst - 'Solitary bone cyst' SubClassOf 'has_inheritance' some 'sporadic' - 'Solitary bone cyst' SubClassOf 'disease' - 'Solitary bone cyst' SubClassOf 'part_of' some 'Rare bone tumor' - 'Solitary bone cyst' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Solitary bone cyst' SubClassOf 'has_prevalence' some 'Unknown' + 'Solitary bone cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Solitary bone cyst' SubClassOf 'disease' + 'Solitary bone cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Solitary bone cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_122928 Label: keratin 81 - 'keratin 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' - 'keratin 81' SubClassOf 'gene' + 'keratin 81' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'keratin 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 81' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83469 Label: Desmoplastic small round cell tumor - 'Desmoplastic small round cell tumor' SubClassOf 'has_prevalence' some 'Unknown' - 'Desmoplastic small round cell tumor' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' - 'Desmoplastic small round cell tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Desmoplastic small round cell tumor' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Desmoplastic small round cell tumor' SubClassOf 'disease' - 'Desmoplastic small round cell tumor' SubClassOf 'has_inheritance' some 'sporadic' + 'Desmoplastic small round cell tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Desmoplastic small round cell tumor' SubClassOf 'disease' + 'Desmoplastic small round cell tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Desmoplastic small round cell tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Desmoplastic small round cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' + 'Desmoplastic small round cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Desmoplastic small round cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_139217 Label: deafness, autosomal recessive 31 - 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'deafness, autosomal recessive 31' SubClassOf 'gene' - 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'deafness, autosomal recessive 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q32"^^http://www.w3.org/2001/XMLSchema#string + 'deafness, autosomal recessive 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_122925 Label: keratin 6B - 'keratin 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' - 'keratin 6B' SubClassOf 'gene' + 'keratin 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' + 'keratin 6B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 6B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324251 Label: vacuolar protein sorting 37 homolog A (S. cerevisiae) - 'vacuolar protein sorting 37 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 53' - 'vacuolar protein sorting 37 homolog A (S. cerevisiae)' SubClassOf 'gene' + 'vacuolar protein sorting 37 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 37 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 53' + 'vacuolar protein sorting 37 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83483 Label: La Crosse encephalitis - 'La Crosse encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'La Crosse encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'La Crosse encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'La Crosse encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'La Crosse encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'La Crosse encephalitis' SubClassOf 'disease' + 'La Crosse encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.91"^^http://www.w3.org/2001/XMLSchema#string) + 'La Crosse encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'La Crosse encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'La Crosse encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'La Crosse encephalitis' SubClassOf 'disease' + 'La Crosse encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_79408 Label: Severe generalized recessive dystrophic epidermolysis bullosa - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'disease' - 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'disease' + 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.042"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_158778 Label: Isolated bone marrow mastocytosis - 'Isolated bone marrow mastocytosis' SubClassOf 'part_of' some 'Indolent systemic mastocytosis' - 'Isolated bone marrow mastocytosis' SubClassOf 'clinical subtype' + 'Isolated bone marrow mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent systemic mastocytosis' + 'Isolated bone marrow mastocytosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_83482 Label: Mycoplasma encephalitis - 'Mycoplasma encephalitis' SubClassOf 'disease' - 'Mycoplasma encephalitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Mycoplasma encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Mycoplasma encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mycoplasma encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Mycoplasma encephalitis' SubClassOf 'has_inheritance' some 'sporadic' + 'Mycoplasma encephalitis' SubClassOf 'disease' + 'Mycoplasma encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Mycoplasma encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycoplasma encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mycoplasma encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_309120 Label: Acyl-CoA dehydrogenase deficiency - 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'group of disorders' + 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159821 Label: prominin 1 - 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' - 'prominin 1' SubClassOf 'gene' - 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinal macular dystrophy type 2' - 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'prominin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stargardt disease' + 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'prominin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15"^^http://www.w3.org/2001/XMLSchema#string + 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinal macular dystrophy type 2' + 'prominin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_79409 Label: Recessive dystrophic epidermolysis bullosa inversa - 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'disease' - 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'disease' + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_158775 Label: Smouldering systemic mastocytosis - 'Smouldering systemic mastocytosis' SubClassOf 'clinical subtype' - 'Smouldering systemic mastocytosis' SubClassOf 'part_of' some 'Indolent systemic mastocytosis' + 'Smouldering systemic mastocytosis' SubClassOf 'clinical subtype' + 'Smouldering systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_206659 Label: Non-dystrophic myopathy with collagen 6 anomaly - 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'group of disorders' + 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_255138 Label: Pyruvate dehydrogenase E1-beta deficiency - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_83484 Label: St. Louis encephalitis - 'St. Louis encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' - 'St. Louis encephalitis' SubClassOf 'disease' - 'St. Louis encephalitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'St. Louis encephalitis' SubClassOf 'has_inheritance' some 'sporadic' - 'St. Louis encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'St. Louis encephalitis' SubClassOf 'has_prevalence' some 'Unknown' + 'St. Louis encephalitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'St. Louis encephalitis' SubClassOf 'disease' + 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'St. Louis encephalitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'St. Louis encephalitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99810 Label: Familial porencephaly - 'Familial porencephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial porencephaly' SubClassOf 'etiological subtype' - 'Familial porencephaly' SubClassOf 'part_of' some 'Porencephaly' - 'Familial porencephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial porencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial porencephaly' SubClassOf 'etiological subtype' + 'Familial porencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial porencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial porencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porencephaly' + 'Familial porencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial porencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_255132 Label: Adult-onset autosomal recessive sideroblastic anemia - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'disease' - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'disease' + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_99811 Label: Neuronal intestinal pseudoobstruction - 'Neuronal intestinal pseudoobstruction' SubClassOf 'part_of' some 'Chronic intestinal pseudoobstruction' - 'Neuronal intestinal pseudoobstruction' SubClassOf 'etiological subtype' + 'Neuronal intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic intestinal pseudoobstruction' + 'Neuronal intestinal pseudoobstruction' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_206656 Label: Non-dystrophic myopathy - 'Non-dystrophic myopathy' SubClassOf 'group of disorders' + 'Non-dystrophic myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171649 Label: SCL/TAL1 interrupting locus - 'SCL/TAL1 interrupting locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'SCL/TAL1 interrupting locus' SubClassOf 'gene' - 'SCL/TAL1 interrupting locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'SCL/TAL1 interrupting locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SCL/TAL1 interrupting locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'SCL/TAL1 interrupting locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'SCL/TAL1 interrupting locus' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_206653 Label: Autosomal recessive distal myopathy - 'Autosomal recessive distal myopathy' SubClassOf 'group of disorders' + 'Autosomal recessive distal myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_158772 Label: Nodular urticaria pigmentosa - 'Nodular urticaria pigmentosa' SubClassOf 'part_of' some 'Maculopapular cutaneous mastocytosis' - 'Nodular urticaria pigmentosa' SubClassOf 'clinical subtype' + 'Nodular urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maculopapular cutaneous mastocytosis' + 'Nodular urticaria pigmentosa' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_171647 Label: pre-B-cell leukemia homeobox 1 - 'pre-B-cell leukemia homeobox 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'pre-B-cell leukemia homeobox 1' SubClassOf 'gene' + 'pre-B-cell leukemia homeobox 1' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'pre-B-cell leukemia homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'pre-B-cell leukemia homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206650 Label: Autosomal dominant distal myopathy - 'Autosomal dominant distal myopathy' SubClassOf 'group of disorders' + 'Autosomal dominant distal myopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99807 Label: PEHO-like syndrome - 'PEHO-like syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'PEHO-like syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'PEHO-like syndrome' SubClassOf 'disease' + 'PEHO-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'PEHO-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'PEHO-like syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99806 Label: Oculootodental syndrome - 'Oculootodental syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Oculootodental syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oculootodental syndrome' SubClassOf 'malformation syndrome' - 'Oculootodental syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oculootodental syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 11' + 'Oculootodental syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculootodental syndrome' SubClassOf 'malformation syndrome' + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 11' + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_99803 Label: Haddad syndrome - 'Haddad syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Haddad syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Haddad syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Haddad syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Haddad syndrome' SubClassOf 'malformation syndrome' - 'Haddad syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Haddad syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Haddad syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Haddad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Haddad syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Haddad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Haddad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Haddad syndrome' SubClassOf 'malformation syndrome' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Haddad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_99802 Label: Hemimegalencephaly - 'Hemimegalencephaly' SubClassOf 'malformation syndrome' - 'Hemimegalencephaly' SubClassOf 'part_of' some 'Cerebral malformation' - 'Hemimegalencephaly' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Hemimegalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Hemimegalencephaly' SubClassOf 'malformation syndrome' + 'Hemimegalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_79410 Label: Pretibial dystrophic epidermolysis bullosa - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'disease' - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'disease' + 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122917 Label: keratin 6A - 'keratin 6A' SubClassOf 'gene' - 'keratin 6A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' + 'keratin 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 6A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' + 'keratin 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79411 Label: Transient bullous dermolysis of the newborn - 'Transient bullous dermolysis of the newborn' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Transient bullous dermolysis of the newborn' SubClassOf 'part_of' some 'Dystrophic epidermolysis bullosa' - 'Transient bullous dermolysis of the newborn' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Transient bullous dermolysis of the newborn' SubClassOf 'disease' - 'Transient bullous dermolysis of the newborn' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transient bullous dermolysis of the newborn' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Transient bullous dermolysis of the newborn' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transient bullous dermolysis of the newborn' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Transient bullous dermolysis of the newborn' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Transient bullous dermolysis of the newborn' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transient bullous dermolysis of the newborn' SubClassOf 'disease' + 'Transient bullous dermolysis of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dystrophic epidermolysis bullosa' + 'Transient bullous dermolysis of the newborn' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_310474 Label: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) - 'protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)' SubClassOf 'gene' - 'protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309127 Label: 3-hydroxyacyl-CoA dehydrogenase deficiency - '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'group of disorders' + '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_79414 Label: Woolly hair nevus - 'Woolly hair nevus' SubClassOf 'disease' - 'Woolly hair nevus' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' + 'Woolly hair nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' + 'Woolly hair nevus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324240 Label: nucleolar protein 3 (apoptosis repressor with CARD domain) - 'nucleolar protein 3 (apoptosis repressor with CARD domain)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cortical myoclonus' - 'nucleolar protein 3 (apoptosis repressor with CARD domain)' SubClassOf 'gene' + 'nucleolar protein 3 (apoptosis repressor with CARD domain)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cortical myoclonus' + 'nucleolar protein 3 (apoptosis repressor with CARD domain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'nucleolar protein 3 (apoptosis repressor with CARD domain)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122913 Label: keratin 5 - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized epidermolysis bullosa simplex' - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with circinate migratory erythema' - 'keratin 5' SubClassOf 'gene' - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with mottled pigmentation' - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Dowling-Meara type' - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' - 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' + 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized epidermolysis bullosa simplex' + 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with circinate migratory erythema' + 'keratin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with mottled pigmentation' + 'keratin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dowling-Degos disease' + 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Dowling-Meara type' + 'keratin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' Class: http://www.orpha.net/ORDO/Orphanet_394606 Label: tRNA methyltransferase 10 homolog A (S. cerevisiae) - 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf 'gene' - 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' + 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q23"^^http://www.w3.org/2001/XMLSchema#string + 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293462 Label: Pre-Descemet corneal dystrophy - 'Pre-Descemet corneal dystrophy' SubClassOf 'disease' - 'Pre-Descemet corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pre-Descemet corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Pre-Descemet corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pre-Descemet corneal dystrophy' SubClassOf 'disease' + 'Pre-Descemet corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pre-Descemet corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pre-Descemet corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Pre-Descemet corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_83452 Label: Complex regional pain syndrome - 'Complex regional pain syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Complex regional pain syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Complex regional pain syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Complex regional pain syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Complex regional pain syndrome' SubClassOf 'disease' + 'Complex regional pain syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Complex regional pain syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "26.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Complex regional pain syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Complex regional pain syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Complex regional pain syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_83451 Label: Florid cemento-osseous dysplasia - 'Florid cemento-osseous dysplasia' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' - 'Florid cemento-osseous dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Florid cemento-osseous dysplasia' SubClassOf 'disease' - 'Florid cemento-osseous dysplasia' SubClassOf 'has_prevalence' some 'Unknown' + 'Florid cemento-osseous dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Florid cemento-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Florid cemento-osseous dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Florid cemento-osseous dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309133 Label: Metabolic disease due to other fatty acid oxidation disorder - 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'group of disorders' + 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1797 Label: Autosomal dominant spondylocostal dysostosis - 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'malformation syndrome' - 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_83454 Label: Glomuvenous malformation - 'Glomuvenous malformation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glomuvenous malformation' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'Glomuvenous malformation' SubClassOf 'malformation syndrome' - 'Glomuvenous malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glomuvenous malformation' SubClassOf 'part_of' some 'Venous malformation' - 'Glomuvenous malformation' SubClassOf 'has_prevalence' some 'Unknown' + 'Glomuvenous malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glomuvenous malformation' SubClassOf 'malformation syndrome' + 'Glomuvenous malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_1794 Label: Oculomaxillofacial dysostosis - 'Oculomaxillofacial dysostosis' SubClassOf 'malformation syndrome' - 'Oculomaxillofacial dysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Oculomaxillofacial dysostosis' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Oculomaxillofacial dysostosis' SubClassOf 'malformation syndrome' + 'Oculomaxillofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Oculomaxillofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_309136 Label: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'group of disorders' + 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_83453 Label: Vulvovaginal gingival syndrome - 'Vulvovaginal gingival syndrome' SubClassOf 'part_of' some 'Rare non-malformative uterovaginal or vulvovaginal disease' - 'Vulvovaginal gingival syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Vulvovaginal gingival syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Vulvovaginal gingival syndrome' SubClassOf 'part_of' some 'Rare mucosal lichen planus' - 'Vulvovaginal gingival syndrome' SubClassOf 'disease' - 'Vulvovaginal gingival syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Vulvovaginal gingival syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Vulvovaginal gingival syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mucosal lichen planus' + 'Vulvovaginal gingival syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Vulvovaginal gingival syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative uterovaginal or vulvovaginal disease' + 'Vulvovaginal gingival syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_403288 Label: mitochondrial calcium uptake 1 - 'mitochondrial calcium uptake 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal myopathy with extrapyramidal signs' - 'mitochondrial calcium uptake 1' SubClassOf 'gene' + 'mitochondrial calcium uptake 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial calcium uptake 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial calcium uptake 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Proximal myopathy with extrapyramidal signs' Class: http://www.orpha.net/ORDO/Orphanet_1795 Label: Peripheral dysostosis - 'Peripheral dysostosis' SubClassOf 'malformation syndrome' - 'Peripheral dysostosis' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Peripheral dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Peripheral dysostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309130 Label: Disorder of carnitine cycle and carnitine transport - 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'group of disorders' + 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122911 Label: keratin 3 - 'keratin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meesmann corneal dystrophy' - 'keratin 3' SubClassOf 'gene' + 'keratin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meesmann corneal dystrophy' + 'keratin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_83450 Label: Regional odontodysplasia - 'Regional odontodysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Regional odontodysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Regional odontodysplasia' SubClassOf 'disease' - 'Regional odontodysplasia' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Regional odontodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Regional odontodysplasia' SubClassOf 'disease' + 'Regional odontodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Regional odontodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1798 Label: Dysostosis, Stanescu type - 'Dysostosis, Stanescu type' SubClassOf 'malformation syndrome' - 'Dysostosis, Stanescu type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dysostosis, Stanescu type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysostosis, Stanescu type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dysostosis, Stanescu type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Dysostosis, Stanescu type' SubClassOf 'malformation syndrome' + 'Dysostosis, Stanescu type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dysostosis, Stanescu type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dysostosis, Stanescu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dysostosis, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_1799 Label: Familial developmental dysphasia - 'Familial developmental dysphasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial developmental dysphasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial developmental dysphasia' SubClassOf 'part_of' some 'Specific language disorder' - 'Familial developmental dysphasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial developmental dysphasia' SubClassOf 'clinical syndrome' + 'Familial developmental dysphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial developmental dysphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial developmental dysphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Specific language disorder' + 'Familial developmental dysphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial developmental dysphasia' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171676 Label: Periventricular leukomalacia - 'Periventricular leukomalacia' SubClassOf 'disease' - 'Periventricular leukomalacia' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Periventricular leukomalacia' SubClassOf 'disease' + 'Periventricular leukomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1790 Label: Hypomandibular faciocranial dysostosis - 'Hypomandibular faciocranial dysostosis' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'malformation syndrome' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'part_of' some 'Cranial malformation' - 'Hypomandibular faciocranial dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypomandibular faciocranial dysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypomandibular faciocranial dysostosis' SubClassOf 'malformation syndrome' + 'Hypomandibular faciocranial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomandibular faciocranial dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypomandibular faciocranial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_218376 Label: major histocompatibility complex, class I, A - 'major histocompatibility complex, class I, A' SubClassOf 'Major susceptibility factor in' some 'Birdshot chorioretinopathy' - 'major histocompatibility complex, class I, A' SubClassOf 'gene' + 'major histocompatibility complex, class I, A' SubClassOf 'Major susceptibility factor in' some 'Birdshot chorioretinopathy' + 'major histocompatibility complex, class I, A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class I, A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1791 Label: Frontofacionasal dysplasia - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Frontofacionasal dysplasia' SubClassOf 'malformation syndrome' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Median facial cleft' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Frontofacionasal dysplasia' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Frontofacionasal dysplasia' SubClassOf 'malformation syndrome' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_171684 Label: Idiopathic bilateral vestibulopathy - 'Idiopathic bilateral vestibulopathy' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'Idiopathic bilateral vestibulopathy' SubClassOf 'disease' + 'Idiopathic bilateral vestibulopathy' SubClassOf 'disease' + 'Idiopathic bilateral vestibulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_171680 Label: Lissencephaly due to TUBA1A mutation - 'Lissencephaly due to TUBA1A mutation' SubClassOf 'part_of' some 'Lissencephaly' - 'Lissencephaly due to TUBA1A mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lissencephaly due to TUBA1A mutation' SubClassOf 'malformation syndrome' + 'Lissencephaly due to TUBA1A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly' + 'Lissencephaly due to TUBA1A mutation' SubClassOf 'malformation syndrome' + 'Lissencephaly due to TUBA1A mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79405 Label: Junctional epidermolysis bullosa inversa - 'Junctional epidermolysis bullosa inversa' SubClassOf 'disease' - 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Junctional epidermolysis bullosa inversa' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa inversa' SubClassOf 'disease' + 'Junctional epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Junctional epidermolysis bullosa inversa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Junctional epidermolysis bullosa inversa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122904 Label: keratin 17 - 'keratin 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sebocystomatosis' - 'keratin 17' SubClassOf 'gene' - 'keratin 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' + 'keratin 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sebocystomatosis' + 'keratin 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' Class: http://www.orpha.net/ORDO/Orphanet_79406 Label: Late-onset junctional epidermolysis bullosa - 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Late-onset junctional epidermolysis bullosa' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' - 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Late-onset junctional epidermolysis bullosa' SubClassOf 'disease' + 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Late-onset junctional epidermolysis bullosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Late-onset junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Late-onset junctional epidermolysis bullosa' SubClassOf 'disease' + 'Late-onset junctional epidermolysis bullosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_79403 Label: Junctional epidermolysis bullosa - pyloric atresia - 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'disease' - 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'disease' + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_79404 Label: Junctional epidermolysis bullosa, Herlitz type - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' - 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'disease' + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'disease' + 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_403281 Label: excision repair cross-complementation group 6-like 2 - 'excision repair cross-complementation group 6-like 2' SubClassOf 'gene' - 'excision repair cross-complementation group 6-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancytopenia-developmental delay syndrome' + 'excision repair cross-complementation group 6-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 6-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.32"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 6-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pancytopenia-developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122901 Label: keratin 16 - 'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' - 'keratin 16' SubClassOf 'gene' - 'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' + 'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pachyonychia congenita' + 'keratin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79401 Label: Epidermolysis bullosa simplex, Ogna type - 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_prevalence' some 'Unknown' - 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'part_of' some 'Basal epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'disease' - 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'disease' + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basal epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_79402 Label: Generalized junctional epidermolysis bullosa, non-Herlitz type - 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' - 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa, non-Herlitz type' - 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_prevalence' some 'Unknown' - 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' + 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa, non-Herlitz type' Class: http://www.orpha.net/ORDO/Orphanet_122907 Label: keratin 2 - 'keratin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Superficial epidermolytic ichthyosis' - 'keratin 2' SubClassOf 'gene' + 'keratin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Superficial epidermolytic ichthyosis' + 'keratin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 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'Non-syndromic developmental defect of the eye' + 'Congenital primary aphakia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital primary aphakia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Congenital primary aphakia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital primary aphakia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1787 Label: Acrofacial dysostosis, Palagonia type - 'Acrofacial dysostosis, Palagonia type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrofacial dysostosis, Palagonia type' 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cell leukemia - 'Aleukemic mast cell leukemia' SubClassOf 'disease' - 'Aleukemic mast cell leukemia' SubClassOf 'part_of' some 'Mast cell leukemia' + 'Aleukemic mast cell leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mast cell leukemia' + 'Aleukemic mast cell leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1788 Label: Acrofacial dysostosis, Rodr�guez type - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'malformation syndrome' - 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'malformation syndrome' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_158796 Label: Classic mast cell leukemia - 'Classic mast cell leukemia' SubClassOf 'part_of' some 'Mast cell leukemia' - 'Classic mast cell leukemia' SubClassOf 'disease' + 'Classic mast cell leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mast cell leukemia' + 'Classic mast cell leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_158793 Label: Lymphoadenopathic mastocytosis with eosinophilia - 'Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf 'part_of' some 'Aggressive systemic mastocytosis' - 'Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf 'clinical subtype' + 'Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive systemic mastocytosis' + 'Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_289098 Label: Disorders of vitamin D metabolism - 'Disorders of vitamin D metabolism' SubClassOf 'group of disorders' + 'Disorders of vitamin D metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1782 Label: Dysosteosclerosis - 'Dysosteosclerosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Dysosteosclerosis' SubClassOf 'malformation syndrome' - 'Dysosteosclerosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysosteosclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dysosteosclerosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dysosteosclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Dysosteosclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dysosteosclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysosteosclerosis' SubClassOf 'malformation syndrome' + 'Dysosteosclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Dysosteosclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dysosteosclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dysosteosclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_303801 Label: kelch-like family member 3 - 'kelch-like family member 3' SubClassOf 'gene' - 'kelch-like family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2D' + 'kelch-like family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2D' + 'kelch-like family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string + 'kelch-like family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303805 Label: cullin 3 - 'cullin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2E' - 'cullin 3' SubClassOf 'gene' + 'cullin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cullin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36.2"^^http://www.w3.org/2001/XMLSchema#string + 'cullin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoaldosteronism type 2E' Class: http://www.orpha.net/ORDO/Orphanet_292385 Label: rhomboid 5 homolog 2 (Drosophila) - 'rhomboid 5 homolog 2 (Drosophila)' SubClassOf 'gene' - 'rhomboid 5 homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-esophageal carcinoma syndrome' + 'rhomboid 5 homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'rhomboid 5 homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'rhomboid 5 homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Palmoplantar keratoderma-esophageal carcinoma syndrome' Class: http://www.orpha.net/ORDO/Orphanet_292381 Label: G protein-coupled receptor 179 - 'G protein-coupled receptor 179' SubClassOf 'gene' - 'G protein-coupled receptor 179' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'G protein-coupled receptor 179' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 179' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'G protein-coupled receptor 179' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98727 Label: Atrial defect and interauricular communication - 'Atrial defect and interauricular communication' SubClassOf 'group of disorders' + 'Atrial defect and interauricular communication' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_322852 Label: small nuclear ribonucleoprotein polypeptide E - 'small nuclear ribonucleoprotein polypeptide E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'small nuclear ribonucleoprotein polypeptide E' SubClassOf 'gene' + 'small nuclear ribonucleoprotein polypeptide E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'small nuclear ribonucleoprotein polypeptide E' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'small nuclear ribonucleoprotein polypeptide E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98729 Label: Congenital pulmonary veins anomaly - 'Congenital pulmonary veins anomaly' SubClassOf 'group of disorders' + 'Congenital pulmonary veins anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238755 Label: Autosomal dominant limb-girdle muscular dystrophy type 1H - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98724 Label: Congenital great vessels anomaly - 'Congenital great vessels anomaly' SubClassOf 'group of disorders' + 'Congenital great vessels anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98723 Label: Hypoplastic right heart syndrome - 'Hypoplastic right heart syndrome' SubClassOf 'group of disorders' + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf 'group of disorders' + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic right heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_238750 Label: 4q21 microdeletion syndrome - '4q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '4q21 microdeletion syndrome' SubClassOf 'malformation syndrome' - '4q21 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 4' - '4q21 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '4q21 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '4q21 microdeletion syndrome' SubClassOf 'malformation syndrome' + '4q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 4' + '4q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '4q21 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '4q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '4q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '4q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98725 Label: Ascending aorta anomaly - 'Ascending aorta anomaly' SubClassOf 'group of disorders' + 'Ascending aorta anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98731 Label: Arteriovenous fistula - 'Arteriovenous fistula' SubClassOf 'group of disorders' + 'Arteriovenous fistula' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98733 Label: Noonan syndrome and Noonan-related syndrome - 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'group of disorders' + 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_167635 Label: Scleromyxedema - 'Scleromyxedema' SubClassOf 'part_of' some 'Lichen myxedematosus' - 'Scleromyxedema' SubClassOf 'disease' + 'Scleromyxedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lichen myxedematosus' + 'Scleromyxedema' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121429 Label: arylsulfatase B - 'arylsulfatase B' SubClassOf 'gene' - 'arylsulfatase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 6, rapidly progressing' - 'arylsulfatase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 6, slowly progressing' + 'arylsulfatase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'arylsulfatase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'arylsulfatase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 6, rapidly progressing' + 'arylsulfatase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 6, slowly progressing' Class: http://www.orpha.net/ORDO/Orphanet_292376 Label: chordin-like 1 - 'chordin-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital megalocornea' - 'chordin-like 1' SubClassOf 'gene' + 'chordin-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital megalocornea' + 'chordin-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chordin-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121427 Label: arylsulfatase A - 'arylsulfatase A' SubClassOf 'gene' - 'arylsulfatase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, adult form' - 'arylsulfatase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, late infantile form' - 'arylsulfatase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachromatic leukodystrophy, juvenile form' + 'arylsulfatase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'arylsulfatase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metachromatic leukodystrophy, late infantile form' + 'arylsulfatase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metachromatic leukodystrophy, juvenile form' + 'arylsulfatase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metachromatic leukodystrophy, adult form' + 'arylsulfatase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_238769 Label: 1q44 microdeletion syndrome - '1q44 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '1q44 microdeletion syndrome' SubClassOf 'malformation syndrome' - '1q44 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 1' - '1q44 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '1q44 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '1q44 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '1q44 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '1q44 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1q44 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '1q44 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 1' + '1q44 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '1q44 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98719 Label: Pulmonary artery or pulmonary branch anomaly - 'Pulmonary artery or pulmonary branch anomaly' SubClassOf 'group of disorders' + 'Pulmonary artery or pulmonary branch anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98718 Label: Aortic malformation - 'Aortic malformation' SubClassOf 'group of disorders' + 'Aortic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_322841 Label: mesenchyme homeobox 1 - 'mesenchyme homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' - 'mesenchyme homeobox 1' SubClassOf 'gene' + 'mesenchyme homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'mesenchyme homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mesenchyme homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238766 Label: Ptosis - syndactyly - learning difficulties - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'malformation syndrome' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Ptosis - syndactyly - learning difficulties' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ptosis - syndactyly - learning difficulties' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ptosis - syndactyly - learning difficulties' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ptosis - syndactyly - learning difficulties' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ptosis - syndactyly - learning difficulties' SubClassOf 'malformation syndrome' + 'Ptosis - syndactyly - learning difficulties' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ptosis - syndactyly - learning difficulties' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_98717 Label: Transposition of the great arteries and conotruncal cardiac anomaly - 'Transposition of the great arteries and conotruncal cardiac anomaly' SubClassOf 'group of disorders' + 'Transposition of the great arteries and conotruncal cardiac anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238763 Label: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'malformation syndrome' - 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'part_of' some 'Hereditary glaucoma' + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary glaucoma' + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'malformation syndrome' + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98716 Label: Heart position anomaly - 'Heart position anomaly' SubClassOf 'group of disorders' + 'Heart position anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98715 Label: Uveitis - 'Uveitis' SubClassOf 'group of disorders' + 'Uveitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "38.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Uveitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98714 Label: Metabolic disease with macular cherry-red spot - 'Metabolic disease with macular cherry-red spot' SubClassOf 'group of disorders' + 'Metabolic disease with macular cherry-red spot' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_405470 Label: methyltransferase like 23 - 'methyltransferase like 23' SubClassOf 'gene' - 'methyltransferase like 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'methyltransferase like 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methyltransferase like 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'methyltransferase like 23' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98713 Label: Metabolic disease with pigmentary retinitis - 'Metabolic disease with pigmentary retinitis' SubClassOf 'group of disorders' + 'Metabolic disease with pigmentary retinitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98712 Label: Metabolic disease with cataract - 'Metabolic disease with cataract' SubClassOf 'group of disorders' + 'Metabolic disease with cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98721 Label: Congenital tricuspid malformation - 'Congenital tricuspid malformation' SubClassOf 'group of disorders' + 'Congenital tricuspid malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98722 Label: Atrioventricular canal defect - 'Atrioventricular canal defect' SubClassOf 'group of disorders' + 'Atrioventricular canal defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98720 Label: Atrioventricular valve anomaly - 'Atrioventricular valve anomaly' SubClassOf 'group of disorders' + 'Atrioventricular valve anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121431 Label: arylsulfatase E (chondrodysplasia punctata 1) - 'arylsulfatase E (chondrodysplasia punctata 1)' SubClassOf 'gene' - 'arylsulfatase E (chondrodysplasia punctata 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachytelephalangic chondrodysplasia punctata' + 'arylsulfatase E (chondrodysplasia punctata 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.33"^^http://www.w3.org/2001/XMLSchema#string + 'arylsulfatase E (chondrodysplasia punctata 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'arylsulfatase E (chondrodysplasia punctata 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachytelephalangic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_121437 Label: aristaless related homeobox - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partington syndrome' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile epileptic-dyskinetic encephalopathy' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lissencephaly with abnormal genitalia' - 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity - intellectual disability - X-linked epilepsy' - 'aristaless related homeobox' SubClassOf 'gene' + 'aristaless related homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.3"^^http://www.w3.org/2001/XMLSchema#string + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partington syndrome' + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lissencephaly with abnormal genitalia' + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'aristaless related homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile epileptic-dyskinetic encephalopathy' + 'aristaless related homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aristaless related homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity - intellectual disability - X-linked epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_188809 Label: synaptic Ras GTPase activating protein 1 - 'synaptic Ras GTPase activating protein 1' SubClassOf 'gene' - 'synaptic Ras GTPase activating protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'synaptic Ras GTPase activating protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'synaptic Ras GTPase activating protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'synaptic Ras GTPase activating protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_121435 Label: armadillo repeat gene deleted in velocardiofacial syndrome - 'armadillo repeat gene deleted in velocardiofacial syndrome' SubClassOf 'gene' - 'armadillo repeat gene deleted in velocardiofacial syndrome' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'armadillo repeat gene deleted in velocardiofacial syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'armadillo repeat gene deleted in velocardiofacial syndrome' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'armadillo repeat gene deleted in velocardiofacial syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98709 Label: Ectodermal malformation syndrome associated with ocular features - 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'group of disorders' + 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_103920 Label: Undetermined colitis - 'Undetermined colitis' SubClassOf 'group of disorders' + 'Undetermined colitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121417 Label: ADP-ribosylation factor-like 11 - 'ADP-ribosylation factor-like 11' SubClassOf 'Major susceptibility factor in' some 'B-cell chronic lymphocytic leukemia' - 'ADP-ribosylation factor-like 11' SubClassOf 'gene' + 'ADP-ribosylation factor-like 11' SubClassOf 'Major susceptibility factor in' some 'B-cell chronic lymphocytic leukemia' + 'ADP-ribosylation factor-like 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.12"^^http://www.w3.org/2001/XMLSchema#string + 'ADP-ribosylation factor-like 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_314802 Label: Short stature due to partial GHR deficiency - 'Short stature due to partial GHR deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Short stature due to partial GHR deficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Short stature due to partial GHR deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Short stature due to partial GHR deficiency' SubClassOf 'disease' + 'Short stature due to partial GHR deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Short stature due to partial GHR deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Short stature due to partial GHR deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Short stature due to partial GHR deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98702 Label: Connective tissue disease with eye involvement - 'Connective tissue disease with eye involvement' SubClassOf 'group of disorders' + 'Connective tissue disease with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98701 Label: Phakomatosis with eye involvement - 'Phakomatosis with eye involvement' SubClassOf 'group of disorders' + 'Phakomatosis with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98704 Label: Onycho-patellar syndrome with eye involvement - 'Onycho-patellar syndrome with eye involvement' SubClassOf 'group of disorders' + 'Onycho-patellar syndrome with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98703 Label: Disease with potential neoplastic degeneration associated with ocular features - 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'group of disorders' + 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98706 Label: Oculocutaneous or ocular albinism - 'Oculocutaneous or ocular albinism' SubClassOf 'group of disorders' + 'Oculocutaneous or ocular albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_205590 Label: glutamate receptor, ionotropic, kainate 2 - 'glutamate receptor, ionotropic, kainate 2' SubClassOf 'gene' - 'glutamate receptor, ionotropic, kainate 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'glutamate receptor, ionotropic, kainate 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.3"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor, ionotropic, kainate 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, ionotropic, kainate 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98708 Label: Pigmentation disorder with eye involvement, excluding albinism - 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'group of disorders' + 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_205594 Label: NHP2 ribonucleoprotein - 'NHP2 ribonucleoprotein' SubClassOf 'gene' - 'NHP2 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'NHP2 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string + 'NHP2 ribonucleoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NHP2 ribonucleoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' Class: http://www.orpha.net/ORDO/Orphanet_169793 Label: Severe hemophilia B - 'Severe hemophilia B' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Severe hemophilia B' SubClassOf 'clinical subtype' - 'Severe hemophilia B' SubClassOf 'part_of' some 'Hemophilia B' - 'Severe hemophilia B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe hemophilia B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Severe hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe hemophilia B' SubClassOf 'clinical subtype' + 'Severe hemophilia B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia B' + 'Severe hemophilia B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_98710 Label: Metabolic disease associated with ocular features - 'Metabolic disease associated with ocular features' SubClassOf 'group of disorders' + 'Metabolic disease associated with ocular features' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98711 Label: Metabolic disease with corneal opacity - 'Metabolic disease with corneal opacity' SubClassOf 'group of disorders' + 'Metabolic disease with corneal opacity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169796 Label: Moderately severe hemophilia B - 'Moderately severe hemophilia B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Moderately severe hemophilia B' SubClassOf 'clinical subtype' - 'Moderately severe hemophilia B' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Moderately severe hemophilia B' SubClassOf 'part_of' some 'Hemophilia B' - 'Moderately severe hemophilia B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Moderately severe hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Moderately severe hemophilia B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia B' + 'Moderately severe hemophilia B' SubClassOf 'clinical subtype' + 'Moderately severe hemophilia B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Moderately severe hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Moderately severe hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_103917 Label: Autoimmune enteropathy type 3 - 'Autoimmune enteropathy type 3' SubClassOf 'disease' - 'Autoimmune enteropathy type 3' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' - 'Autoimmune enteropathy type 3' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'Autoimmune enteropathy type 3' SubClassOf 'disease' + 'Autoimmune enteropathy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe immune-mediated enteropathy' + 'Autoimmune enteropathy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_103918 Label: Tropical pancreatitis - 'Tropical pancreatitis' SubClassOf 'disease' - 'Tropical pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Tropical pancreatitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Tropical pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Tropical pancreatitis' SubClassOf 'disease' + 'Tropical pancreatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_121424 Label: mesencephalic astrocyte-derived neurotrophic factor - 'mesencephalic astrocyte-derived neurotrophic factor' SubClassOf 'gene' - 'mesencephalic astrocyte-derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' + 'mesencephalic astrocyte-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mesencephalic astrocyte-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'mesencephalic astrocyte-derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial pancreatic carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_169799 Label: Mild hemophilia B - 'Mild hemophilia B' SubClassOf 'clinical subtype' - 'Mild hemophilia B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mild hemophilia B' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mild hemophilia B' SubClassOf 'part_of' some 'Hemophilia B' - 'Mild hemophilia B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Mild hemophilia B' SubClassOf 'clinical subtype' + 'Mild hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Mild hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mild hemophilia B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mild hemophilia B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia B' + 'Mild hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_103916 Label: Autoimmune enteropathy type 2 - 'Autoimmune enteropathy type 2' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Autoimmune enteropathy type 2' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' - 'Autoimmune enteropathy type 2' SubClassOf 'disease' + 'Autoimmune enteropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Autoimmune enteropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe immune-mediated enteropathy' + 'Autoimmune enteropathy type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_188814 Label: apolipoprotein A-II - 'apolipoprotein A-II' SubClassOf 'gene' - 'apolipoprotein A-II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to Apolipoprotein AII variant' + 'apolipoprotein A-II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apolipoprotein A-II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein A-II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial renal amyloidosis due to Apolipoprotein AII variant' Class: http://www.orpha.net/ORDO/Orphanet_240103 Label: Progressive supranuclear palsy - corticobasal syndrome - 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'clinical subtype' - 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_103919 Label: Autoimmune pancreatitis - 'Autoimmune pancreatitis' SubClassOf 'disease' - 'Autoimmune pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Autoimmune pancreatitis' SubClassOf 'part_of' some 'Immunoglobulin G4-related sclerosing disease' + 'Autoimmune pancreatitis' SubClassOf 'disease' + 'Autoimmune pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Autoimmune pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunoglobulin G4-related sclerosing disease' Class: http://www.orpha.net/ORDO/Orphanet_121421 Label: ADP-ribosylation factor-like 6 - 'ADP-ribosylation factor-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'ADP-ribosylation factor-like 6' SubClassOf 'gene' - 'ADP-ribosylation factor-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'ADP-ribosylation factor-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ADP-ribosylation factor-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADP-ribosylation factor-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'ADP-ribosylation factor-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_83418 Label: Proximal spinal muscular atrophy type 2 - 'Proximal spinal muscular atrophy type 2' SubClassOf 'clinical subtype' - 'Proximal spinal muscular atrophy type 2' SubClassOf 'part_of' some 'Proximal spinal muscular atrophy' - 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Proximal spinal muscular atrophy type 2' SubClassOf 'clinical subtype' + 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proximal spinal muscular atrophy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal spinal muscular atrophy' + 'Proximal spinal muscular atrophy type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proximal spinal muscular atrophy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proximal spinal muscular atrophy type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.23"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_103910 Label: Congenital enterocyte heparan sulfate deficiency - 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'disease' - 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'disease' + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_103912 Label: Epithelio-exfoliative colitis - deafness - 'Epithelio-exfoliative colitis - deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Epithelio-exfoliative colitis - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Epithelio-exfoliative colitis - deafness' SubClassOf 'disease' - 'Epithelio-exfoliative colitis - deafness' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' + 'Epithelio-exfoliative colitis - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Epithelio-exfoliative colitis - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Epithelio-exfoliative colitis - deafness' SubClassOf 'disease' + 'Epithelio-exfoliative colitis - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Epithelio-exfoliative colitis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_314811 Label: Short stature due to GHSR deficiency - 'Short stature due to GHSR deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature due to GHSR deficiency' SubClassOf 'disease' - 'Short stature due to GHSR deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Short stature due to GHSR deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' - 'Short stature due to GHSR deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Short stature due to GHSR deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Short stature due to GHSR deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Short stature due to GHSR deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature due to GHSR deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature due to GHSR deficiency' SubClassOf 'disease' + 'Short stature due to GHSR deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Short stature due to GHSR deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature due to GHSR deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_83419 Label: Proximal spinal muscular atrophy type 3 - 'Proximal spinal muscular atrophy type 3' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Proximal spinal muscular atrophy type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy type 3' SubClassOf 'clinical subtype' - 'Proximal spinal muscular atrophy type 3' SubClassOf 'part_of' some 'Proximal spinal muscular atrophy' - 'Proximal spinal muscular atrophy type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Proximal spinal muscular atrophy type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proximal spinal muscular atrophy type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Proximal spinal muscular atrophy type 3' SubClassOf 'clinical subtype' + 'Proximal spinal muscular atrophy type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Proximal spinal muscular atrophy type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_205584 Label: natriuretic peptide A - 'natriuretic peptide A' SubClassOf 'gene' - 'natriuretic peptide A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'natriuretic peptide A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' + 'natriuretic peptide A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'natriuretic peptide A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.21"^^http://www.w3.org/2001/XMLSchema#string + 'natriuretic peptide A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' + 'natriuretic peptide A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_98700 Label: Pigmentation disorder with eye involvement - 'Pigmentation disorder with eye involvement' SubClassOf 'group of disorders' + 'Pigmentation disorder with eye involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121415 Label: arginase 1 - 'arginase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Argininemia' - 'arginase 1' SubClassOf 'gene' + 'arginase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Argininemia' + 'arginase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23"^^http://www.w3.org/2001/XMLSchema#string + 'arginase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_83420 Label: Proximal spinal muscular atrophy type 4 - 'Proximal spinal muscular atrophy type 4' SubClassOf 'clinical subtype' - 'Proximal spinal muscular atrophy type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Proximal spinal muscular atrophy type 4' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Proximal spinal muscular atrophy type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy type 4' SubClassOf 'part_of' some 'Proximal spinal muscular atrophy' + 'Proximal spinal muscular atrophy type 4' SubClassOf 'clinical subtype' + 'Proximal spinal muscular atrophy type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Proximal spinal muscular atrophy type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal spinal muscular atrophy' + 'Proximal spinal muscular atrophy type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Proximal spinal muscular atrophy type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_121412 Label: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) - 'ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)' SubClassOf 'gene' - 'ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' + 'ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periventricular nodular heterotopia' + 'ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_103907 Label: Chronic diarrhea due to glucoamylase deficiency - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disease' - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disease' + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' Class: http://www.orpha.net/ORDO/Orphanet_159889 Label: acyl-CoA dehydrogenase, long chain - 'acyl-CoA dehydrogenase, long chain' SubClassOf 'gene' - 'acyl-CoA dehydrogenase, long chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain acyl-CoA dehydrogenase deficiency' + 'acyl-CoA dehydrogenase, long chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase, long chain' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acyl-CoA dehydrogenase, long chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_103908 Label: Congenital sodium diarrhea - 'Congenital sodium diarrhea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital sodium diarrhea' SubClassOf 'part_of' some 'Congenital intestinal transport defect' - 'Congenital sodium diarrhea' SubClassOf 'disease' + 'Congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal transport defect' + 'Congenital sodium diarrhea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital sodium diarrhea' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121410 Label: aquaporin 2 (collecting duct) - 'aquaporin 2 (collecting duct)' SubClassOf 'gene' - 'aquaporin 2 (collecting duct)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nephrogenic diabetes insipidus' + 'aquaporin 2 (collecting duct)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'aquaporin 2 (collecting duct)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nephrogenic diabetes insipidus' + 'aquaporin 2 (collecting duct)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_103909 Label: Diarrhea-vomiting due to trehalase deficiency - 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disease' - 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disease' + 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410077) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7700.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' Class: http://www.orpha.net/ORDO/Orphanet_117810 Label: phytanoyl-CoA 2-hydroxylase - 'phytanoyl-CoA 2-hydroxylase' SubClassOf 'gene' - 'phytanoyl-CoA 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' + 'phytanoyl-CoA 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'phytanoyl-CoA 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phytanoyl-CoA 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_98767 Label: Spinocerebellar ataxia type 11 - 'Spinocerebellar ataxia type 11' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 11' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 11' SubClassOf 'disease' + 'Spinocerebellar ataxia type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 11' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98768 Label: Spinocerebellar ataxia type 13 - 'Spinocerebellar ataxia type 13' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 13' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 13' SubClassOf 'disease' - 'Spinocerebellar ataxia type 13' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 13' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 13' SubClassOf 'disease' + 'Spinocerebellar ataxia type 13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98769 Label: Spinocerebellar ataxia type 15/16 - 'Spinocerebellar ataxia type 15/16' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 15/16' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 15/16' SubClassOf 'disease' + 'Spinocerebellar ataxia type 15/16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 15/16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 15/16' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117818 Label: phosphatidylinositol glycan anchor biosynthesis, class M - 'phosphatidylinositol glycan anchor biosynthesis, class M' SubClassOf 'gene' - 'phosphatidylinositol glycan anchor biosynthesis, class M' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' + 'phosphatidylinositol glycan anchor biosynthesis, class M' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class M' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class M' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' Class: http://www.orpha.net/ORDO/Orphanet_408692 Label: sarcolemma associated protein - 'sarcolemma associated protein' SubClassOf 'gene' - 'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sarcolemma associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sarcolemma associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.2-p14.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159897 Label: chromosome 10 open reading frame 2 - 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' - 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile onset spinocerebellar ataxia' - 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' - 'chromosome 10 open reading frame 2' SubClassOf 'gene' - 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' + 'chromosome 10 open reading frame 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' + 'chromosome 10 open reading frame 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile onset spinocerebellar ataxia' + 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'chromosome 10 open reading frame 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' Class: http://www.orpha.net/ORDO/Orphanet_121487 Label: ATPase, class V, type 10A - 'ATPase, class V, type 10A' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' - 'ATPase, class V, type 10A' SubClassOf 'gene' + 'ATPase, class V, type 10A' SubClassOf 'Role in the phenotype of' some 'Angelman syndrome' + 'ATPase, class V, type 10A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q12"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, class V, type 10A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98771 Label: Spinocerebellar ataxia type 18 - 'Spinocerebellar ataxia type 18' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 18' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 18' SubClassOf 'disease' - 'Spinocerebellar ataxia type 18' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 18' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 18' SubClassOf 'disease' + 'Spinocerebellar ataxia type 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159893 Label: actin, beta - 'actin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baraitser-Winter syndrome' - 'actin, beta' SubClassOf 'gene' - 'actin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental malformations - deafness - dystonia' + 'actin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Developmental malformations - deafness - dystonia' + 'actin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Baraitser-Winter syndrome' + 'actin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121482 Label: atrophin 1 - 'atrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentatorubral pallidoluysian atrophy' - 'atrophin 1' SubClassOf 'gene' + 'atrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dentatorubral pallidoluysian atrophy' + 'atrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p"^^http://www.w3.org/2001/XMLSchema#string + 'atrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98773 Label: Spinocerebellar ataxia type 21 - 'Spinocerebellar ataxia type 21' SubClassOf 'disease' - 'Spinocerebellar ataxia type 21' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 21' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spinocerebellar ataxia type 21' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 21' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 21' SubClassOf 'disease' + 'Spinocerebellar ataxia type 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 21' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spinocerebellar ataxia type 21' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 21' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_309192 Label: Tay-Sachs disease, B variant, adult form - 'Tay-Sachs disease, B variant, adult form' SubClassOf 'clinical subtype' - 'Tay-Sachs disease, B variant, adult form' SubClassOf 'part_of' some 'Tay-Sachs disease' + 'Tay-Sachs disease, B variant, adult form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_159895 Label: aminoacylase 1 - 'aminoacylase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurological conditions associated with aminoacylase 1 deficiency' - 'aminoacylase 1' SubClassOf 'gene' + 'aminoacylase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminoacylase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurological conditions associated with aminoacylase 1 deficiency' + 'aminoacylase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98772 Label: Spinocerebellar ataxia type 19/22 - 'Spinocerebellar ataxia type 19/22' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 19/22' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 19/22' SubClassOf 'disease' - 'Spinocerebellar ataxia type 19/22' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 19/22' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 19/22' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 19/22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 19/22' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 19/22' SubClassOf 'disease' + 'Spinocerebellar ataxia type 19/22' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117820 Label: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Macrodactyly of fingers, unilateral' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'CLOVE syndrome' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'gene' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Macrodactyly of toes, unilateral' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Megalencephaly-capillary malformation-polymicrogyria syndrome' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Modifying somatic mutation in' some 'Hereditary nonpolyposis colon cancer' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemihyperplasia-multiple lipomatosis syndrome' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Macrodactyly of fingers, unilateral' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'CLOVE syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cowden syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Macrodactyly of toes, unilateral' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Megalencephaly-capillary malformation-polymicrogyria syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemihyperplasia-multiple lipomatosis syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Modifying somatic mutation in' some 'Hereditary nonpolyposis colon cancer' Class: http://www.orpha.net/ORDO/Orphanet_238722 Label: Familial congenital mirror movements - 'Familial congenital mirror movements' SubClassOf 'disease' - 'Familial congenital mirror movements' SubClassOf 'part_of' some 'Rare movement disorder' - 'Familial congenital mirror movements' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial congenital mirror movements' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial congenital mirror movements' SubClassOf 'part_of' some 'Rare genetic movement disorder' - 'Familial congenital mirror movements' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial congenital mirror movements' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial congenital mirror movements' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial congenital mirror movements' SubClassOf 'disease' + 'Familial congenital mirror movements' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial congenital mirror movements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare movement disorder' + 'Familial congenital mirror movements' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial congenital mirror movements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_98758 Label: Spinocerebellar ataxia type 6 - 'Spinocerebellar ataxia type 6' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 6' SubClassOf 'disease' + 'Spinocerebellar ataxia type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 6' SubClassOf 'disease' + 'Spinocerebellar ataxia type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_98759 Label: Spinocerebellar ataxia type 17 - 'Spinocerebellar ataxia type 17' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Spinocerebellar ataxia type 17' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Spinocerebellar ataxia type 17' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 17' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 17' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Spinocerebellar ataxia type 17' SubClassOf 'disease' - 'Spinocerebellar ataxia type 17' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 17' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Spinocerebellar ataxia type 17' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Spinocerebellar ataxia type 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.047"^^http://www.w3.org/2001/XMLSchema#string) + 'Spinocerebellar ataxia type 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Spinocerebellar ataxia type 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 17' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98756 Label: Spinocerebellar ataxia type 2 - 'Spinocerebellar ataxia type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Spinocerebellar ataxia type 2' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Spinocerebellar ataxia type 2' SubClassOf 'disease' - 'Spinocerebellar ataxia type 2' SubClassOf 'part_of' some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spinocerebellar ataxia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98757 Label: Spinocerebellar ataxia type 3 - 'Spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 3' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Spinocerebellar ataxia type 3' SubClassOf 'disease' - 'Spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 3' SubClassOf 'disease' + 'Spinocerebellar ataxia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_156638 Label: Rare genetic endocrine disease - 'Rare genetic endocrine disease' SubClassOf 'group of disorders' + 'Rare genetic endocrine disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117825 Label: phosphoinositide kinase, FYVE finger containing - 'phosphoinositide kinase, FYVE finger containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fleck corneal dystrophy' - 'phosphoinositide kinase, FYVE finger containing' SubClassOf 'gene' + 'phosphoinositide kinase, FYVE finger containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fleck corneal dystrophy' + 'phosphoinositide kinase, FYVE finger containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoinositide kinase, FYVE finger containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117822 Label: PTEN induced putative kinase 1 - 'PTEN induced putative kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' - 'PTEN induced putative kinase 1' SubClassOf 'gene' + 'PTEN induced putative kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PTEN induced putative kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'PTEN induced putative kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121474 Label: ATM serine/threonine kinase - 'ATM serine/threonine kinase' SubClassOf 'gene' - 'ATM serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia-telangiectasia' - 'ATM serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' - 'ATM serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia-telangiectasia variant' - 'ATM serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' - 'ATM serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined cervical dystonia' + 'ATM serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Combined cervical dystonia' + 'ATM serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATM serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia-telangiectasia' + 'ATM serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ataxia-telangiectasia variant' + 'ATM serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Mantle cell lymphoma' + 'ATM serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'ATM serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'B-cell chronic lymphocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_98766 Label: Spinocerebellar ataxia type 5 - 'Spinocerebellar ataxia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 5' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 5' SubClassOf 'disease' + 'Spinocerebellar ataxia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98765 Label: Spinocerebellar ataxia type 4 - 'Spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 4' SubClassOf 'disease' - 'Spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 4' SubClassOf 'has_prevalence' some 'Unknown' - 'Spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 4' SubClassOf 'disease' + 'Spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98764 Label: Spinocerebellar ataxia type 27 - 'Spinocerebellar ataxia type 27' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 27' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 27' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spinocerebellar ataxia type 27' SubClassOf 'disease' - 'Spinocerebellar ataxia type 27' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spinocerebellar ataxia type 27' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 27' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 27' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 27' SubClassOf 'disease' + 'Spinocerebellar ataxia type 27' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 27' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_98763 Label: Spinocerebellar ataxia type 14 - 'Spinocerebellar ataxia type 14' SubClassOf 'disease' - 'Spinocerebellar ataxia type 14' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 14' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 14' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spinocerebellar ataxia type 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 14' SubClassOf 'disease' + 'Spinocerebellar ataxia type 14' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98762 Label: Spinocerebellar ataxia type 12 - 'Spinocerebellar ataxia type 12' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 12' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 12' SubClassOf 'disease' - 'Spinocerebellar ataxia type 12' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 12' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Spinocerebellar ataxia type 12' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 12' SubClassOf 'disease' + 'Spinocerebellar ataxia type 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 12' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 12' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_98761 Label: Spinocerebellar ataxia type 10 - 'Spinocerebellar ataxia type 10' SubClassOf 'has_prevalence' some 'Unknown' - 'Spinocerebellar ataxia type 10' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 10' SubClassOf 'disease' - 'Spinocerebellar ataxia type 10' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 10' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 10' SubClassOf 'disease' + 'Spinocerebellar ataxia type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 4' Class: http://www.orpha.net/ORDO/Orphanet_121472 Label: ataxia, cerebellar, Cayman type - 'ataxia, cerebellar, Cayman type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia, Cayman type' - 'ataxia, cerebellar, Cayman type' SubClassOf 'gene' + 'ataxia, cerebellar, Cayman type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia, Cayman type' + 'ataxia, cerebellar, Cayman type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ataxia, cerebellar, Cayman type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98760 Label: Spinocerebellar ataxia type 8 - 'Spinocerebellar ataxia type 8' SubClassOf 'has_prevalence' some 'Unknown' - 'Spinocerebellar ataxia type 8' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 8' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 8' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 8' SubClassOf 'disease' + 'Spinocerebellar ataxia type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 8' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225713 Label: Other metabolic disease with epilepsy - 'Other metabolic disease with epilepsy' SubClassOf 'group of disorders' + 'Other metabolic disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225710 Label: Sterol metabolism disorder with epilepsy - 'Sterol metabolism disorder with epilepsy' SubClassOf 'group of disorders' + 'Sterol metabolism disorder with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156629 Label: Genetic hypertension - 'Genetic hypertension' SubClassOf 'group of disorders' + 'Genetic hypertension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121468 Label: argininosuccinate synthase 1 - 'argininosuccinate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute neonatal citrullinemia type I' - 'argininosuccinate synthase 1' SubClassOf 'gene' - 'argininosuccinate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset citrullinemia type I' + 'argininosuccinate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'argininosuccinate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute neonatal citrullinemia type I' + 'argininosuccinate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset citrullinemia type I' + 'argininosuccinate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225707 Label: Metabolic neurotransmission anomaly with epilepsy - 'Metabolic neurotransmission anomaly with epilepsy' SubClassOf 'group of disorders' + 'Metabolic neurotransmission anomaly with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121461 Label: asp (abnormal spindle) homolog, microcephaly associated (Drosophila) - 'asp (abnormal spindle) homolog, microcephaly associated (Drosophila)' SubClassOf 'gene' - 'asp (abnormal spindle) homolog, microcephaly associated (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'asp (abnormal spindle) homolog, microcephaly associated (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'asp (abnormal spindle) homolog, microcephaly associated (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'asp (abnormal spindle) homolog, microcephaly associated (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_298644 Label: Disorder of thiamine metabolism and transport - 'Disorder of thiamine metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of thiamine metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of thiamine metabolism and transport' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Disorder of thiamine metabolism and transport' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Disorder of thiamine metabolism and transport' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Disorder of thiamine metabolism and transport' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98755 Label: Spinocerebellar ataxia type 1 - 'Spinocerebellar ataxia type 1' SubClassOf 'disease' - 'Spinocerebellar ataxia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Spinocerebellar ataxia type 1' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Spinocerebellar ataxia type 1' SubClassOf 'part_of' some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 1' SubClassOf 'disease' + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Spinocerebellar ataxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' Class: http://www.orpha.net/ORDO/Orphanet_98754 Label: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'part_of' some 'Prader-Willi syndrome' - 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_238744 Label: Mammary-digital-nail syndrome - 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Mammary-digital-nail syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mammary-digital-nail syndrome' SubClassOf 'malformation syndrome' - 'Mammary-digital-nail syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some 'Excess breast volume or number' - 'Mammary-digital-nail syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Mammary-digital-nail syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Mammary-digital-nail syndrome' SubClassOf 'malformation syndrome' + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Mammary-digital-nail syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' + 'Mammary-digital-nail syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mammary-digital-nail syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_360280 Label: MLX, MAX dimerization protein - 'MLX, MAX dimerization protein' SubClassOf 'gene' - 'MLX, MAX dimerization protein' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' + 'MLX, MAX dimerization protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'MLX, MAX dimerization protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MLX, MAX dimerization protein' SubClassOf 'Major susceptibility factor in' some 'Takayasu arteritis' Class: http://www.orpha.net/ORDO/Orphanet_225700 Label: Mitochondrial disease with epilepsy - 'Mitochondrial disease with epilepsy' SubClassOf 'group of disorders' + 'Mitochondrial disease with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225703 Label: Mitochondrial disease with peripheral neuropathy - 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'group of disorders' + 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156619 Label: Rare genetic urogenital disease - 'Rare genetic urogenital disease' SubClassOf 'group of disorders' + 'Rare genetic urogenital disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121449 Label: N-acylsphingosine amidohydrolase (acid ceramidase) 1 - 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary myoclonus - progressive distal muscular atrophy' - 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf 'gene' - 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Farber lipogranulomatosis' + 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary myoclonus - progressive distal muscular atrophy' + 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Farber lipogranulomatosis' + 'N-acylsphingosine amidohydrolase (acid ceramidase) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117805 Label: paired-like homeobox 2b - 'paired-like homeobox 2b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' - 'paired-like homeobox 2b' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' - 'paired-like homeobox 2b' SubClassOf 'gene' - 'paired-like homeobox 2b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'paired-like homeobox 2b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'paired-like homeobox 2b' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p13"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeobox 2b' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' + 'paired-like homeobox 2b' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeobox 2b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121457 Label: aspartoacylase - 'aspartoacylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mild Canavan disease' - 'aspartoacylase' SubClassOf 'gene' - 'aspartoacylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe Canavan disease' + 'aspartoacylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'aspartoacylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mild Canavan disease' + 'aspartoacylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe Canavan disease' + 'aspartoacylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156622 Label: Genetic urogenital tract malformation - 'Genetic urogenital tract malformation' SubClassOf 'group of disorders' + 'Genetic urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121455 Label: argininosuccinate lyase - 'argininosuccinate lyase' SubClassOf 'gene' - 'argininosuccinate lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Argininosuccinic aciduria' + 'argininosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Argininosuccinic aciduria' + 'argininosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'argininosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.21"^^http://www.w3.org/2001/XMLSchema#string 2. Classes Added: Class: http://www.orpha.net/ORDO/Orphanet_2129 Label: Hemihypertrophy - intestinal web - corneal opacity + 'Hemihypertrophy - intestinal web - corneal opacity' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2161 Label: Holoacardius amorphus + 'Holoacardius amorphus' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1235 Label: Ectodermal dysplasia - absent dermatoglyphs + 'Ectodermal dysplasia - absent dermatoglyphs' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_409941 Label: not inherited + 'not inherited' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409944 Label: Neonatal + 'Neonatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409943 Label: Antenatal + 'Antenatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409946 Label: Childhood + 'Childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409945 Label: Infancy + 'Infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409948 Label: Adult + 'Adult' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409947 Label: Adolescent + 'Adolescent' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409949 Label: Elderly + 'Elderly' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409950 Label: All ages + 'All ages' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409968 Label: prevalence at birth + 'prevalence at birth' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409967 Label: annual incidence + 'annual incidence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_409969 Label: lifetime prevalence + 'lifetime prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409966 Label: point prevalence + 'point prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409973 Label: Case + 'Case' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_409970 Label: cases/families + 'cases/families' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_409979 Label: 1 / 1 000 000 + '1 / 1 000 000' SubClassOf 'annual incidence' + '1 / 1 000 000' SubClassOf 'point prevalence' + '1 / 1 000 000' SubClassOf 'lifetime prevalence' + '1 / 1 000 000' SubClassOf 'prevalence at birth' Class: http://www.orpha.net/ORDO/Orphanet_409978 Label: 6-9 / 10 000 + '6-9 / 10 000' SubClassOf 'annual incidence' + '6-9 / 10 000' SubClassOf 'point prevalence' + '6-9 / 10 000' SubClassOf 'lifetime prevalence' + '6-9 / 10 000' SubClassOf 'prevalence at birth' Class: http://www.orpha.net/ORDO/Orphanet_409977 Label: 1-9 / 100 000 + '1-9 / 100 000' SubClassOf 'annual incidence' + '1-9 / 100 000' SubClassOf 'prevalence at birth' + '1-9 / 100 000' SubClassOf 'lifetime prevalence' + '1-9 / 100 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409976 Label: 1-9 / 1 000 000 + '1-9 / 1 000 000' SubClassOf 'prevalence at birth' + '1-9 / 1 000 000' SubClassOf 'point prevalence' + '1-9 / 1 000 000' SubClassOf 'lifetime prevalence' + '1-9 / 1 000 000' SubClassOf 'annual incidence' Class: http://www.orpha.net/ORDO/Orphanet_409975 Label: 1-5 / 10 000 + '1-5 / 10 000' SubClassOf 'lifetime prevalence' + '1-5 / 10 000' SubClassOf 'annual incidence' + '1-5 / 10 000' SubClassOf 'prevalence at birth' + '1-5 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409974 Label: Family + 'Family' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_409980 Label: 1 / 1000 + '1 / 1000' SubClassOf 'prevalence at birth' + '1 / 1000' SubClassOf 'annual incidence' + '1 / 1000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409984 Label: Europe + 'Europe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409983 Label: Africa + 'Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409985 Label: Oceania + 'Oceania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409986 Label: North America + 'North America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409987 Label: Latin America + 'Latin America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409989 Label: South East Asia + 'South East Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409991 Label: Worldwide + 'Worldwide' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409995 Label: Albania + 'Albania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409992 Label: Not defined + 'Not defined' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409996 Label: Algeria + 'Algeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409929 Label: autosomal dominant + 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409938 Label: y linked + 'y linked' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409939 Label: Inheritance with unknown mechanism + 'Inheritance with unknown mechanism' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409934 Label: x linked dominant + 'x linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409936 Label: oligogenic + 'oligogenic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_3446 Label: Weaver-like syndrome + 'Weaver-like syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_409937 Label: semi-dominant + 'semi-dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409930 Label: autosomal recessive + 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409931 Label: multigenic / multifactorial + 'multigenic / multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409932 Label: x linked recessive + 'x linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409933 Label: mitochondrial inheritance + 'mitochondrial inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409843 Label: nuclear factor I/A + 'nuclear factor I/A' SubClassOf 'Role in the phenotype of' some '1p31p32 microdeletion syndrome' + 'nuclear factor I/A' SubClassOf 'has_chromosomal_location' value "1p31.3-p31.2"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear factor I/A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_409859 Label: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3' SubClassOf 'Part of a fusion gene in' some ''Acute myeloid leukemia with t(9;11)(p22;q23)'' + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3' SubClassOf 'has_chromosomal_location' value "9p22"^^http://www.w3.org/2001/XMLSchema#string + 'myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_414069 Label: leiomodin 3 (fetal) + 'leiomodin 3 (fetal)' SubClassOf 'has_chromosomal_location' value "3p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'leiomodin 3 (fetal)' SubClassOf 'gene with protein product' + 'leiomodin 3 (fetal)' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Severe congenital nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_409839 Label: crystallin, beta A2 + 'crystallin, beta A2' SubClassOf 'gene with protein product' + 'crystallin, beta A2' SubClassOf 'has_chromosomal_location' value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_409866 Label: ribophorin I + 'ribophorin I' SubClassOf 'gene with protein product' + 'ribophorin I' SubClassOf 'Part of a fusion gene in' some ''Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)'' + 'ribophorin I' SubClassOf 'has_chromosomal_location' value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_409871 Label: RNA binding motif protein 15 + 'RNA binding motif protein 15' SubClassOf 'gene with protein product' + 'RNA binding motif protein 15' SubClassOf 'has_chromosomal_location' value "1p13"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 15' SubClassOf 'Part of a fusion gene in' some ''Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)'' Class: http://www.orpha.net/ORDO/Orphanet_409876 Label: megakaryoblastic leukemia (translocation) 1 + 'megakaryoblastic leukemia (translocation) 1' SubClassOf 'gene with protein product' + 'megakaryoblastic leukemia (translocation) 1' SubClassOf 'Part of a fusion gene in' some ''Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)'' + 'megakaryoblastic leukemia (translocation) 1' SubClassOf 'has_chromosomal_location' value "22q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_409811 Label: kelch-like family member 9 + 'kelch-like family member 9' SubClassOf 'gene with protein product' + 'kelch-like family member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'KLHL9-related childhood-onset distal myopathy' + 'kelch-like family member 9' SubClassOf 'has_chromosomal_location' value "9p22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_91128 Label: Graft rejection after lung transplantation + 'Graft rejection after lung transplantation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_138728 Label: major histocompatibility complex, class II, DQ alpha 1 + 'major histocompatibility complex, class II, DQ alpha 1' SubClassOf 'gene with protein product' + 'major histocompatibility complex, class II, DQ alpha 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic achalasia' + 'major histocompatibility complex, class II, DQ alpha 1' SubClassOf 'has_chromosomal_location' value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410128 Label: Malta + 'Malta' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410125 Label: Malaysia + 'Malaysia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410120 Label: Luxembourg + 'Luxembourg' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410122 Label: Macedonia, the former Yugoslav Republic of + 'Macedonia, the former Yugoslav Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410114 Label: Lebanon + 'Lebanon' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410115 Label: Lesotho + 'Lesotho' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410117 Label: Libyan Arab Jamahiriya + 'Libyan Arab Jamahiriya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410119 Label: Lithuania + 'Lithuania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410110 Label: Kuwait + 'Kuwait' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410113 Label: Latvia + 'Latvia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410109 Label: Korea, Republic of + 'Korea, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410106 Label: Kenya + 'Kenya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410104 Label: Jordan + 'Jordan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410101 Label: Jamaica + 'Jamaica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410102 Label: Japan + 'Japan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410100 Label: Italy + 'Italy' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410162 Label: Panama + 'Panama' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410161 Label: Palestinian Territory, occupied + 'Palestinian Territory, occupied' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410164 Label: Paraguay + 'Paraguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410166 Label: Philippines + 'Philippines' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410165 Label: Peru + 'Peru' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410168 Label: Poland + 'Poland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410169 Label: Portugal + 'Portugal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410153 Label: Nigeria + 'Nigeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410151 Label: Nicaragua + 'Nicaragua' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410150 Label: New Zealand + 'New Zealand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410157 Label: Norway + 'Norway' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410159 Label: Pakistan + 'Pakistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410158 Label: Oman + 'Oman' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410146 Label: Nepal + 'Nepal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410141 Label: Morocco + 'Morocco' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410147 Label: Netherlands + 'Netherlands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410134 Label: Mexico + 'Mexico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410138 Label: Mongolia + 'Mongolia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410136 Label: Moldova, Republic of + 'Moldova, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410196 Label: South Africa + 'South Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410198 Label: Spain + 'Spain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410199 Label: Sri Lanka + 'Sri Lanka' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410193 Label: Slovenia + 'Slovenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410192 Label: Slovakia + 'Slovakia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410191 Label: Singapore + 'Singapore' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410190 Label: Sierra leone + 'Sierra leone' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410187 Label: Senegal + 'Senegal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410188 Label: Serbia + 'Serbia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410186 Label: Saudi Arabia + 'Saudi Arabia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410174 Label: Russian Federation + 'Russian Federation' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410172 Label: Reunion + 'Reunion' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410173 Label: Romania + 'Romania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410171 Label: Qatar + 'Qatar' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410170 Label: Puerto rico + 'Puerto rico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_400742 Label: NECAP endocytosis associated 1 + 'NECAP endocytosis associated 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Early infantile epileptic encephalopathy' + 'NECAP endocytosis associated 1' SubClassOf 'gene with protein product' + 'NECAP endocytosis associated 1' SubClassOf 'has_chromosomal_location' value "12p13.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_289385 Label: Malignancy diagnosed during pregnancy + 'Malignancy diagnosed during pregnancy' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Malignancy diagnosed during pregnancy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_410205 Label: Switzerland + 'Switzerland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410204 Label: Sweden + 'Sweden' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410207 Label: Taiwan, Province of China + 'Taiwan, Province of China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410200 Label: Sudan + 'Sudan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410222 Label: Ukraine + 'Ukraine' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410223 Label: United Arab Emirates + 'United Arab Emirates' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410228 Label: Uzbekistan + 'Uzbekistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410227 Label: Uruguay + 'Uruguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410224 Label: United Kingdom + 'United Kingdom' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410225 Label: United States + 'United States' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410210 Label: Thailand + 'Thailand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410212 Label: Togo + 'Togo' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410217 Label: Turkey + 'Turkey' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410216 Label: Tunisia + 'Tunisia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410230 Label: Venezuela + 'Venezuela' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410231 Label: Viet Nam + 'Viet Nam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410238 Label: Zimbabwe + 'Zimbabwe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410299 Label: non-coding RNA + 'non-coding RNA' SubClassOf 'genetic material' Class: http://www.orpha.net/ORDO/Orphanet_410297 Label: disorder-associated locus + 'disorder-associated locus' SubClassOf 'genetic material' Class: http://www.orpha.net/ORDO/Orphanet_410298 Label: gene with protein product + 'gene with protein product' SubClassOf 'genetic material' Class: http://www.orpha.net/ORDO/Orphanet_410340 Label: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2' SubClassOf 'gene with protein product' + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2' SubClassOf 'has_chromosomal_location' value "8p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant deafness-onychodystrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98336 Label: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection + 'Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_410502 Label: POC1 centriolar protein B + 'POC1 centriolar protein B' SubClassOf 'gene with protein product' + 'POC1 centriolar protein B' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Cone rod dystrophy' + 'POC1 centriolar protein B' SubClassOf 'has_chromosomal_location' value "12q21.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410515 Label: heterogeneous nuclear ribonucleoprotein D-like + 'heterogeneous nuclear ribonucleoprotein D-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1G' + 'heterogeneous nuclear ribonucleoprotein D-like' SubClassOf 'has_chromosomal_location' value "4q21.22"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein D-like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_410532 Label: family with sequence similarity 65, member B + 'family with sequence similarity 65, member B' SubClassOf 'gene with protein product' + 'family with sequence similarity 65, member B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'family with sequence similarity 65, member B' SubClassOf 'has_chromosomal_location' value "6p22.3-p21.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410540 Label: vesicle-associated membrane protein 7 + 'vesicle-associated membrane protein 7' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis' + 'vesicle-associated membrane protein 7' SubClassOf 'has_chromosomal_location' value "Yq12"^^http://www.w3.org/2001/XMLSchema#string + 'vesicle-associated membrane protein 7' SubClassOf 'gene with protein product' + 'vesicle-associated membrane protein 7' SubClassOf 'has_chromosomal_location' value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_60039 Label: Pudendal neuralgia + 'Pudendal neuralgia' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' + 'Pudendal neuralgia' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value "16.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Pudendal neuralgia' SubClassOf 'has_AgeOfOnset' some 'Adult' + 'Pudendal neuralgia' SubClassOf 'has_inheritance' some 'not inherited' + 'Pudendal neuralgia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_410642 Label: transducin (beta)-like 1 X-linked receptor 1 + 'transducin (beta)-like 1 X-linked receptor 1' SubClassOf 'gene with protein product' + 'transducin (beta)-like 1 X-linked receptor 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'transducin (beta)-like 1 X-linked receptor 1' SubClassOf 'has_chromosomal_location' value "3q26.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410622 Label: coiled-coil domain containing 22 + 'coiled-coil domain containing 22' SubClassOf 'has_chromosomal_location' value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 22' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some '3C syndrome' + 'coiled-coil domain containing 22' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_410627 Label: alpha-2-macroglobulin-like 1 + 'alpha-2-macroglobulin-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'alpha-2-macroglobulin-like 1' SubClassOf 'has_chromosomal_location' value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'alpha-2-macroglobulin-like 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_410615 Label: jumonji domain containing 1C + 'jumonji domain containing 1C' SubClassOf 'has_chromosomal_location' value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'jumonji domain containing 1C' SubClassOf 'Major susceptibility factor in' some 'Germinoma of the central nervous system' + 'jumonji domain containing 1C' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_C003 Label: epidemiology Class: http://www.orpha.net/ORDO/Orphanet_C004 Label: prevalence + 'prevalence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_C009 Label: geography Class: http://www.orpha.net/ORDO/Orphanet_410675 Label: SPEG complex locus + 'SPEG complex locus' SubClassOf 'gene with protein product' + 'SPEG complex locus' SubClassOf 'has_chromosomal_location' value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'SPEG complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy' Class: http://www.orpha.net/ORDO/Orphanet_410685 Label: zinc finger and BTB domain containing 20 + 'zinc finger and BTB domain containing 20' SubClassOf 'has_chromosomal_location' value "3q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger and BTB domain containing 20' SubClassOf 'gene with protein product' + 'zinc finger and BTB domain containing 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability - cataracts - calcified pinnae - myopathy' Class: http://www.orpha.net/ORDO/Orphanet_410692 Label: laminin, alpha 1 + 'laminin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' + 'laminin, alpha 1' SubClassOf 'gene with protein product' + 'laminin, alpha 1' SubClassOf 'has_chromosomal_location' value "18p11.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410701 Label: transmembrane protein 98 + 'transmembrane protein 98' SubClassOf 'gene with protein product' + 'transmembrane protein 98' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nanophthalmia' + 'transmembrane protein 98' SubClassOf 'has_chromosomal_location' value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_412839 Label: SET domain containing 2 + 'SET domain containing 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Sotos syndrome' + 'SET domain containing 2' SubClassOf 'gene with protein product' + 'SET domain containing 2' SubClassOf 'has_chromosomal_location' value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_412866 Label: ribosomal protein S28 + 'ribosomal protein S28' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S28' SubClassOf 'gene with protein product' + 'ribosomal protein S28' SubClassOf 'has_chromosomal_location' value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410726 Label: F-box protein 31 + 'F-box protein 31' SubClassOf 'gene with protein product' + 'F-box protein 31' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'F-box protein 31' SubClassOf 'has_chromosomal_location' value "16q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_412855 Label: TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) + 'TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)' SubClassOf 'gene with protein product' + 'TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Blackfan-Diamond anemia' + 'TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)' SubClassOf 'has_chromosomal_location' value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410706 Label: zinc finger, SWIM-type containing 6 + 'zinc finger, SWIM-type containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromelic frontonasal dysplasia' + 'zinc finger, SWIM-type containing 6' SubClassOf 'gene with protein product' + 'zinc finger, SWIM-type containing 6' SubClassOf 'has_chromosomal_location' value "5q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410737 Label: protein tyrosine phosphatase, receptor type, F + 'protein tyrosine phosphatase, receptor type, F' SubClassOf 'has_chromosomal_location' value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, receptor type, F' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Isolated breast aplasia' + 'protein tyrosine phosphatase, receptor type, F' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_410859 Label: anillin, actin binding protein + 'anillin, actin binding protein' SubClassOf 'has_chromosomal_location' value "7p15-p14"^^http://www.w3.org/2001/XMLSchema#string + 'anillin, actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'anillin, actin binding protein' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_410849 Label: FEZ family zinc finger 1 + 'FEZ family zinc finger 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Kallmann syndrome' + 'FEZ family zinc finger 1' SubClassOf 'gene with protein product' + 'FEZ family zinc finger 1' SubClassOf 'has_chromosomal_location' value "7q31.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_411411 Label: small nuclear ribonucleoprotein polypeptides B and B1 + 'small nuclear ribonucleoprotein polypeptides B and B1' SubClassOf 'gene with protein product' + 'small nuclear ribonucleoprotein polypeptides B and B1' SubClassOf 'has_chromosomal_location' value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'small nuclear ribonucleoprotein polypeptides B and B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-costo-mandibular syndrome' Class: http://www.orpha.net/ORDO/Orphanet_966 Label: Hypertrichosis-acromegaloid facial appearance syndrome + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'part_of' some 'Hypertrichosis' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'malformation syndrome' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000') + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal' Class: http://www.orpha.net/ORDO/Orphanet_353548 Label: solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 + 'solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1' SubClassOf 'gene with protein product' + 'solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1' SubClassOf 'has_chromosomal_location' value "9p24"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Dicarboxylic aminoaciduria' Class: http://www.orpha.net/ORDO/Orphanet_412653 Label: transmembrane protein 240 + 'transmembrane protein 240' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 21' + 'transmembrane protein 240' SubClassOf 'gene with protein product' + 'transmembrane protein 240' SubClassOf 'has_chromosomal_location' value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_412643 Label: ameloblastin (enamel matrix protein) + 'ameloblastin (enamel matrix protein)' SubClassOf 'gene with protein product' + 'ameloblastin (enamel matrix protein)' SubClassOf 'has_chromosomal_location' value "4q21"^^http://www.w3.org/2001/XMLSchema#string + 'ameloblastin (enamel matrix protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_412551 Label: splicing factor 3b, subunit 1, 155kDa + 'splicing factor 3b, subunit 1, 155kDa' SubClassOf 'has_chromosomal_location' value "2q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'splicing factor 3b, subunit 1, 155kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acquired idiopathic sideroblastic anemia' + 'splicing factor 3b, subunit 1, 155kDa' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_413615 Label: tRNA nucleotidyl transferase, CCA-adding, 1 + 'tRNA nucleotidyl transferase, CCA-adding, 1' SubClassOf 'gene with protein product' + 'tRNA nucleotidyl transferase, CCA-adding, 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' + 'tRNA nucleotidyl transferase, CCA-adding, 1' SubClassOf 'has_chromosomal_location' value "3p25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_412573 Label: spermidine/spermine N1-acetyltransferase 1 + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'has_chromosomal_location' value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'Candidate gene tested in' some 'Keratosis follicularis spinulosa decalvans' + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_413970 Label: hyperpolarization activated cyclic nucleotide-gated potassium channel 1 + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 1' SubClassOf 'has_chromosomal_location' value "5p12"^^http://www.w3.org/2001/XMLSchema#string + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_413976 Label: solute carrier family 13 (sodium-dependent citrate transporter), member 5 + 'solute carrier family 13 (sodium-dependent citrate transporter), member 5' SubClassOf 'gene with protein product' + 'solute carrier family 13 (sodium-dependent citrate transporter), member 5' SubClassOf 'has_chromosomal_location' value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 13 (sodium-dependent citrate transporter), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_413979 Label: potassium voltage-gated channel, Shab-related subfamily, member 1 + 'potassium voltage-gated channel, Shab-related subfamily, member 1' SubClassOf 'has_chromosomal_location' value "20q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium voltage-gated channel, Shab-related subfamily, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'potassium voltage-gated channel, Shab-related subfamily, member 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_413847 Label: major histocompatibility complex, class I, C + 'major histocompatibility complex, class I, C' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'major histocompatibility complex, class I, C' SubClassOf 'has_chromosomal_location' value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'major histocompatibility complex, class I, C' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_293928 Label: sodium channel, voltage gated, type VIII, alpha subunit + 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'has_chromosomal_location' value "12q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'gene with protein product' + 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_412206 Label: Primary failure of tooth eruption + 'Primary failure of tooth eruption' SubClassOf 'disease' + 'Primary failure of tooth eruption' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_410099 Label: Israel + 'Israel' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410097 Label: Ireland + 'Ireland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410095 Label: Iran, Islamic Republic of + 'Iran, Islamic Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410096 Label: Iraq + 'Iraq' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410094 Label: Indonesia + 'Indonesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410093 Label: India + 'India' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410092 Label: Iceland + 'Iceland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410091 Label: Hungary + 'Hungary' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410090 Label: Hong Kong + 'Hong Kong' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_90055 Label: Rejection after corneal transplantation + 'Rejection after corneal transplantation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_410008 Label: Azerbaijan + 'Azerbaijan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410004 Label: Armenia + 'Armenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410007 Label: Austria + 'Austria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410006 Label: Australia + 'Australia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410003 Label: Argentina + 'Argentina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_411117 Label: coiled-coil domain containing 151 + 'coiled-coil domain containing 151' SubClassOf 'gene with protein product' + 'coiled-coil domain containing 151' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 151' SubClassOf 'has_chromosomal_location' value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_410036 Label: Chile + 'Chile' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410031 Label: Canada + 'Canada' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410037 Label: China + 'China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410047 Label: Croatia + 'Croatia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410045 Label: Costa rica + 'Costa rica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410040 Label: Colombia + 'Colombia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410048 Label: Cuba + 'Cuba' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410049 Label: Cyprus + 'Cyprus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410010 Label: Bahrain + 'Bahrain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410011 Label: Bangladesh + 'Bangladesh' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410013 Label: Belarus + 'Belarus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410014 Label: Belgium + 'Belgium' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410015 Label: Belize + 'Belize' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410019 Label: Bolivia + 'Bolivia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410020 Label: Bosnia and Herzegovina + 'Bosnia and Herzegovina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410025 Label: Brunei Darussalam + 'Brunei Darussalam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410023 Label: Brazil + 'Brazil' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410026 Label: Bulgaria + 'Bulgaria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410077 Label: Greenland + 'Greenland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410079 Label: Guadeloupe + 'Guadeloupe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410073 Label: Germany + 'Germany' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410076 Label: Greece + 'Greece' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410081 Label: Guatemala + 'Guatemala' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410089 Label: Honduras + 'Honduras' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410086 Label: Haiti + 'Haiti' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410050 Label: Czech Republic + 'Czech Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410059 Label: Eritrea + 'Eritrea' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410051 Label: Denmark + 'Denmark' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410054 Label: Dominican Republic + 'Dominican Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410056 Label: Egypt + 'Egypt' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410055 Label: Ecuador + 'Ecuador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410057 Label: El Salvador + 'El Salvador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410060 Label: Estonia + 'Estonia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410065 Label: Finland + 'Finland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410063 Label: Faroe Islands + 'Faroe Islands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410068 Label: French Polynesia + 'French Polynesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410066 Label: France + 'France' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_402736 Label: spalt-like transcription factor 2 + 'spalt-like transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Ocular coloboma' + 'spalt-like transcription factor 2' SubClassOf 'gene with protein product' + 'spalt-like transcription factor 2' SubClassOf 'has_chromosomal_location' value "14q11.1-q12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_411370 Label: RAS p21 protein activator 2 + 'RAS p21 protein activator 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Noonan syndrome' + 'RAS p21 protein activator 2' SubClassOf 'has_chromosomal_location' value "3q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'RAS p21 protein activator 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_123361 Label: notch 1 + 'notch 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' + 'notch 1' SubClassOf 'has_chromosomal_location' value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'notch 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial bicuspid aortic valve' + 'notch 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_35123 Label: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_310221 Label: SMAD family member 6 + 'SMAD family member 6' SubClassOf 'gene with protein product' + 'SMAD family member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial bicuspid aortic valve' + 'SMAD family member 6' SubClassOf 'has_chromosomal_location' value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_65250 Label: Perineural cyst + 'Perineural cyst' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Perineural cyst' SubClassOf 'disease' + 'Perineural cyst' SubClassOf 'has_inheritance' some 'not inherited' + 'Perineural cyst' SubClassOf ('has_annual_incidence_range' some '1-5 / 10 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Perineural cyst' SubClassOf 'has_AgeOfOnset' some 'Adult' Class: http://www.orpha.net/ORDO/Orphanet_413026 Label: solute carrier family 17 (vesicular nucleotide transporter), member 9 + 'solute carrier family 17 (vesicular nucleotide transporter), member 9' SubClassOf 'gene with protein product' + 'solute carrier family 17 (vesicular nucleotide transporter), member 9' SubClassOf 'has_chromosomal_location' value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 17 (vesicular nucleotide transporter), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Disseminated superficial actinic porokeratosis' Class: http://www.orpha.net/ORDO/Orphanet_413011 Label: calsequestrin 1 (fast-twitch, skeletal muscle) + 'calsequestrin 1 (fast-twitch, skeletal muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathy due to calsequestrin and SERCA1 protein overload' + 'calsequestrin 1 (fast-twitch, skeletal muscle)' SubClassOf 'has_chromosomal_location' value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'calsequestrin 1 (fast-twitch, skeletal muscle)' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_3336 Label: Tom�-Brunet-Fardeau syndrome + 'Tom�-Brunet-Fardeau syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3122 Label: Sinus node disease - myopia + 'Sinus node disease - myopia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_168420 Label: nucleoporin 214kDa + 'nucleoporin 214kDa' SubClassOf 'Part of a fusion gene in' some ''Acute myeloid leukemia with t(6;9)(p23;q34)'' + 'nucleoporin 214kDa' SubClassOf 'gene with protein product' + 'nucleoporin 214kDa' SubClassOf 'has_chromosomal_location' value "9q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_168426 Label: DEK proto-oncogene + 'DEK proto-oncogene' SubClassOf 'has_chromosomal_location' value "6p23"^^http://www.w3.org/2001/XMLSchema#string + 'DEK proto-oncogene' SubClassOf 'Part of a fusion gene in' some ''Acute myeloid leukemia with t(6;9)(p23;q34)'' + 'DEK proto-oncogene' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_3046 Label: Intellectual disability-unusual facies, Davis-Lafer type + 'Intellectual disability-unusual facies, Davis-Lafer type' SubClassOf 'obsolete_class 3. Classes Deleted : Class: http://www.orpha.net/ORDO/Orphanet_121086 Label: disrupted in renal carcinoma 2 + 'disrupted in renal carcinoma 2' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' + 'disrupted in renal carcinoma 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_121084 Label: disrupted in renal carcinoma 1 + 'disrupted in renal carcinoma 1' SubClassOf 'gene' + 'disrupted in renal carcinoma 1' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_360196 Label: formin binding protein 4 + 'formin binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' + 'formin binding protein 4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_119010 Label: B-cell CLL/lymphoma 7B + 'B-cell CLL/lymphoma 7B' SubClassOf 'gene' + 'B-cell CLL/lymphoma 7B' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50838 Label: Carpal tunnel syndrome + 'Carpal tunnel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_228113 Label: Anal fistula + 'Anal fistula' SubClassOf 'disease' + 'Anal fistula' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'Anal fistula' SubClassOf 'has_prevalence' some '1-5 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_90065 Label: Acquired aneurysmal subarachnoid hemorrhage + 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'disease' + 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_242335 Label: solute carrier organic anion transporter family, member 5A1 + 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' + 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_242331 Label: sulfatase 1 + 'sulfatase 1' SubClassOf 'gene' + 'sulfatase 1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' Class: http://www.orpha.net/ORDO/Orphanet_108945 Label: Variable + 'Variable' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108946 Label: No data available + 'No data available' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108941 Label: Neonatal/infancy + 'Neonatal/infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108942 Label: Childhood + 'Childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108943 Label: Adolescence / Young adulthood + 'Adolescence / Young adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108944 Label: Adulthood + 'Adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108936 Label: mitochondrial inheritance + 'mitochondrial inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108937 Label: multigenic / multifactorial + 'multigenic / multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108934 Label: x linked recessive + 'x linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108935 Label: x linked dominant + 'x linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108938 Label: sporadic + 'sporadic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108932 Label: autosomal dominant + 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108933 Label: autosomal recessive + 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108930 Label: No data available + 'No data available' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108923 Label: 1 / 1000 + '1 / 1000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108924 Label: 6-9 / 10 000 + '6-9 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108925 Label: 1-5 / 10 000 + '1-5 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108926 Label: 1-9 / 100 000 + '1-9 / 100 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108927 Label: 1-9 / 1 000 000 + '1-9 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108928 Label: 1 / 1 000 000 + '1 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108929 Label: Unknown + 'Unknown' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_159194 Label: DnaJ (Hsp40) homolog, subfamily C, member 30 + 'DnaJ (Hsp40) homolog, subfamily C, member 30' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily C, member 30' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_212587 Label: spinocerebellar ataxia 21 + 'spinocerebellar ataxia 21' SubClassOf 'gene' + 'spinocerebellar ataxia 21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 21' Class: http://www.orpha.net/ORDO/Orphanet_311462 Label: intraflagellar transport 88 + 'intraflagellar transport 88' SubClassOf 'Modifying germline mutation in' some 'Jeune syndrome' + 'intraflagellar transport 88' SubClassOf 'Modifying germline mutation in' some 'Meckel syndrome' + 'intraflagellar transport 88' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_123286 Label: MLX interacting protein-like + 'MLX interacting protein-like' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'MLX interacting protein-like' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2870 Label: Peyronie syndrome + 'Peyronie syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_254723 Label: Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'disease' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Hypertrichosis' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_254712 Label: Familial sinus histiocytosis with massive lymphadenopathy + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254707 Label: Faisalabad histiocytosis + 'Faisalabad histiocytosis' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' + 'Faisalabad histiocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Faisalabad histiocytosis' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Faisalabad histiocytosis' SubClassOf 'disease' + 'Faisalabad histiocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Faisalabad histiocytosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_123352 Label: mirror-image polydactyly 1 + 'mirror-image polydactyly 1' SubClassOf 'gene' + 'mirror-image polydactyly 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laurin-Sandrow syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2848 Label: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_151 Label: Familial renal cell carcinoma + 'Familial renal cell carcinoma' SubClassOf 'Rare renal tumor' + 'Familial renal cell carcinoma' SubClassOf 'Genetic renal tumor' + 'Familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Familial renal cell carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Familial renal cell carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121506 Label: eukaryotic translation initiation factor 4H + 'eukaryotic translation initiation factor 4H' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'eukaryotic translation initiation factor 4H' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_97365 Label: Solitary renal cyst + 'Solitary renal cyst' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_120497 Label: Williams Beuren syndrome chromosome region 22 + 'Williams Beuren syndrome chromosome region 22' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'Williams Beuren syndrome chromosome region 22' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_120507 Label: Williams Beuren syndrome chromosome region 27 + 'Williams Beuren syndrome chromosome region 27' SubClassOf 'gene' + 'Williams Beuren syndrome chromosome region 27' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35066 Label: Idiopathic cutaneous and mucosal candidiasis + 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_137577 Label: Neonatal hypoxic and ischemic brain injury + 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_inheritance' some 'sporadic' + 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'disease' + 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Neonatal hypoxic and ischemic brain injury' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_123986 Label: oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) + 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'gene' + 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oxoglutaricaciduria' Class: http://www.orpha.net/ORDO/Orphanet_118347 Label: ring finger protein 139 + 'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' + 'ring finger protein 139' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_119773 Label: sorting nexin 3 + 'sorting nexin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'MMEP syndrome' + 'sorting nexin 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_122538 Label: HSPB (heat shock 27kDa) associated protein 1 + 'HSPB (heat shock 27kDa) associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' + 'HSPB (heat shock 27kDa) associated protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_118472 Label: spermidine/spermine N1-acetyltransferase 1 + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'gene' + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis follicularis spinulosa decalvans' Class: http://www.orpha.net/ORDO/Orphanet_121833 Label: FK506 binding protein 6, 36kDa + 'FK506 binding protein 6, 36kDa' SubClassOf 'gene' + 'FK506 binding protein 6, 36kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121826 Label: fragile histidine triad + 'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' + 'fragile histidine triad' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_159959 Label: transmembrane protein 114 + 'transmembrane protein 114' SubClassOf 'gene' + 'transmembrane protein 114' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' Class: http://www.orpha.net/ORDO/Orphanet_321640 Label: solute carrier family 52 (riboflavin transporter), member 1 + 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'gene' + 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_402011 Label: Acute myeloid leukemia with t(8;16)(p11;p13) + 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_C012 Label: point prevalence Class: http://www.orpha.net/ORDO/Orphanet_870 Label: Down syndrome + 'Down syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'Down syndrome' SubClassOf 'malformation syndrome' + 'Down syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Down syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Down syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' + 'Down syndrome' SubClassOf 'part_of' some 'Syndromic keratoconus' + 'Down syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Down syndrome' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Down syndrome' SubClassOf 'part_of' some 'Malposition of external canthus' + 'Down syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Down syndrome' SubClassOf 'part_of' some 'Syndromic epicanthus' + 'Down syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Down syndrome' SubClassOf 'part_of' some 'Secondary ectropion' + 'Down syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Down syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Down syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' + 'Down syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_100642 Label: Gonorrhea + 'Gonorrhea' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_159725 Label: intercellular adhesion molecule 1 + 'intercellular adhesion molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'intercellular adhesion molecule 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_159765 Label: mercaptopyruvate sulfurtransferase + 'mercaptopyruvate sulfurtransferase' SubClassOf 'gene' + 'mercaptopyruvate sulfurtransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' Class: http://www.orpha.net/ORDO/Orphanet_924 Label: Acanthosis nigricans + 'Acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acanthosis nigricans' SubClassOf 'disease' + 'Acanthosis nigricans' SubClassOf 'part_of' some 'Other genetic epidermal disease' + 'Acanthosis nigricans' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Acanthosis nigricans' SubClassOf 'part_of' some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_159799 Label: nuclear receptor subfamily 4, group A, member 2 + 'nuclear receptor subfamily 4, group A, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'nuclear receptor subfamily 4, group A, member 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_303717 Label: RAB40A, member RAS oncogene family-like + 'RAB40A, member RAS oncogene family-like' SubClassOf 'gene' + 'RAB40A, member RAS oncogene family-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness - intellectual disability, Martin-Probst type' Class: http://www.orpha.net/ORDO/Orphanet_122995 Label: linker for activation of T cells family, member 2 + 'linker for activation of T cells family, member 2' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'linker for activation of T cells family, member 2' SubClassOf 'gene'